Allele/Variant

Rasgrp1m1Btlr

Species
Mus musculus
Symbol
Rasgrp1m1Btlr
Category
allele
Allele of gene
Rasgrp1
Transgenic Constructs
None
Synonyms
  • grouper
Description
ENU-induced A to T transversion at base pair 117,302,004 (v38) on chromosome 2, or base pair 40,874 in the GenBank genomic region NC_000068 encoding Rasgrp1. The mutation corresponds to residue 514 in the mRNA sequence NM_011246 within exon 4 of 17 total exons. The mutation results in substitution of lysine 116 for a premature stop codon (K116*).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000068.8:g.117132485T>A

Symbol
NC_000068.8:g.117132485T>A
Category
Variant
Variant type
point mutation
Overlaps
Rasgrp1
Location
2:117132485
Nucleotide Change
T>A
Most Severe Consequence
  • stop gained
See all consequences
HGVS.g name
  • (GRCm39)2:117132485T>A
  • NC_000068.8:g.117132485T>A
HGVS.c name
  • ENSEMBL:ENSMUST00000102534.1:c.346A>T
  • ENSEMBL:ENSMUST00000172901.1:c.346A>T
HGVS.p name
  • ENSEMBL:ENSMUSP00000099593:p.Lys116Ter
  • ENSEMBL:ENSMUSP00000133449:p.Lys116Ter
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:6200006
References
Not Available
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
117.12M117.13M117.14M117.15M117.16M117.17M
Variant Types and ConsequencesOnly variants associated to alleles are shown in the graphics above. See all variants in JBrowse.

Variant Molecular Consequences

Predicted effect of NC_000068.8:g.117132485T>A

Variant
NC_000068.8:g.117132485T>A
Variant type:
point_mutation
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
ENSMUST00000172901
mRNAExon 4 / 15
  • stop gained
346Aag348
[116]K[116]
=>
Tag
*
ENSMUST00000173252
mRNAExon 4 / 14
  • stop gained
346Aag348
[116]K[116]
=>
Tag
*
ENSMUST00000173541
mRNAExon 4 / 16
  • stop gained
346Aag348
[116]K[116]
=>
Tag
*
NM_011246.3
mRNAExon 4 / 17
  • stop gained
346Aag348
[116]K[116]
=>
Tag
*
ENSMUST00000174770
mRNAExon 4 / 15
  • stop gained
346Aag348
[116]K[116]
=>
Tag
*
ENSMUST00000102534
mRNAExon 4 / 17
  • stop gained
346Aag348
[116]K[116]
=>
Tag
*
Showing 1 - 6 of 6 rows
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Phenotypes

Phenotype
Annotation details
Source
References
abnormal humoral immune response
MGI
decreased CD4-positive, CD25-positive, alpha-beta regulatory T cell number
MGI
decreased CD8-positive, naive alpha-beta T cell number
MGI
decreased IgM level
MGI
increased CD8-positive, alpha-beta memory T cell number
MGI
increased effector memory CD4-positive, alpha-beta T cell number
MGI
increased IgA level
MGI
increased IgE level
MGI
increased IgM level
MGI
increased NK cell number
MGI
Showing 1 - 10 of 10 rows
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Disease Associations

No data available