Allele/Variant

Mc4rM6Btlr

Species
Mus musculus
Symbol
Mc4rM6Btlr
Category
allele
Allele of gene
Mc4r
Transgenic Constructs
None
Synonyms
  • Big_mac
Description
ENU-induced A to T transversion at base pair 66,859,856 (v38) on chromosome 18, or base pair 632 in the GenBank genomic region NC_000084 for the Mc4r gene. The mutation corresponds to residue 632 in the mRNA sequence NM_016977 within exon 1 of 1 total exons. The mutation results in an asparagine to isoleucine substitution at position 62 (N62I) in the MC4R protein.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

NC_000084.7:g.66992927T>A

Symbol
NC_000084.7:g.66992927T>A
Category
Variant
Variant type
point mutation
Overlaps
Mc4r
Location
18:66992927
Nucleotide Change
T>A
Most Severe Consequence
  • missense variant
See all consequences
HGVS.g name
  • NC_000084.7:g.66992927T>A
  • (GRCm39)18:66992927T>A
HGVS.c name
  • ENSEMBL:ENSMUST00000057942.1:c.185A>T
  • RefSeq:NM_016977.4:c.185A>T
HGVS.p name
  • ENSEMBL:ENSMUSP00000054776:p.Asn62Ile
  • RefSeq:NP_058673.2:p.Asn62Ile
Synonyms
Not Available
Notes
Not Available
Cross references
MGI:6304420
References
All alleles with this variant

Genome location
Assembly version
GRCm39
Viewer Help
66.9910M66.9915M66.9920M66.9925M66.9930M66.9935M
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_000084.7:g.66992927T>A

Variant
NC_000084.7:g.66992927T>A
Variant type:
point_mutation
Sequence feature
Sequence feature type
Associated gene
Location
Molecular consequence
Codon and amino acid change
NM_016977.4
mRNAExon 1 / 1
  • missense variant
184aAc186
[62]N[62]
=>
aTc
I
ENSMUST00000057942
mRNAExon 1 / 1
  • missense variant
184aAc186
[62]N[62]
=>
aTc
I
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Phenotypes

Phenotype
Annotation details
Source
References
increased body weight
MGI
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Disease Associations

No data available