Mutagenetix > Incidental Mutation

Incidental Mutation 'N/A - 535:Gm12778'

219

Institutional Source

Beutler Lab

Gene Symbol

Gm12778

Ensembl Gene

ENSMUSG00000081491

Gene Name

predicted gene 12778

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

N/A - 535 of strain bumble

Quality Score

Status

Validated

Chromosome

Chromosomal Location

33875137-33875469 bp(+) (GRCm39)

Type of Mutation

exon

DNA Base Change (assembly)

T to A at 33875347 bp (GRCm39)

Zygosity

Homozygous

Amino Acid Change

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122341

Coding Region Coverage

1x: 83.1%
3x: 57.4%

Validation Efficiency

88% (80/91)

Allele List at MGI

Other mutations in this stock

Total: 11 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Cacna1e	A	T	1: 154,341,510 (GRCm39)	L1166Q	probably damaging	Het
Cd44	T	C	2: 102,644,534 (GRCm39)	M481V	possibly damaging	Het
Eif4g3	T	A	4: 137,847,739 (GRCm39)	V220D	probably damaging	Het
Klhl29	C	T	12: 5,134,019 (GRCm39)	A773T	probably damaging	Homo
Lifr	A	T	15: 7,216,434 (GRCm39)	H803L	possibly damaging	Het
Macf1	T	C	4: 123,367,601 (GRCm39)	T822A	possibly damaging	Het
Obscn	A	T	11: 58,891,134 (GRCm39)	C1653S	possibly damaging	Het
Ogdh	T	C	11: 6,274,911 (GRCm39)	L180P	possibly damaging	Het
Rnf5	T	C	17: 34,822,330 (GRCm39)	S40G	possibly damaging	Het
Sbf2	T	C	7: 109,911,959 (GRCm39)	T1696A	probably benign	Het
Ska2	C	T	11: 87,008,680 (GRCm39)		probably benign	Het

Nature of Mutation

DNA sequencing using the SOLiD technique identified a G to T transversion at position 238 of the Gm12778 transcript. The mutated nucleotide causes a tryptophan to arginine substitution at amino acid 80 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The predicted Gm12778 gene encodes a putative 119 amino acid protein. Analysis of the sequence using SMART found homology to ribosomal proteins.

The W80R change is predicted to be probably damaging by the PolyPhen program.

Posted On

2010-05-04