Mutagenetix > Incidental Mutation

Incidental Mutation 'P0021:Fas'

7641

Institutional Source

Beutler Lab

Gene Symbol

Fas

Ensembl Gene

ENSMUSG00000024778

Gene Name

Fas cell surface death receptor

Synonyms

APO-1, Tnfrsf6, TNFR6, CD95

MMRRC Submission

038274-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

P0021 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

34268066-34305172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34284610 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 39 (E39G)

Ref Sequence

ENSEMBL: ENSMUSP00000108091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025691] [ENSMUST00000112472]

AlphaFold

P25446

Predicted Effect

probably benign
Transcript: ENSMUST00000025691
AA Change: E39G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000025691
Gene: ENSMUSG00000024778
AA Change: E39G

Domain	Start	End	E-Value	Type
TNFR	44	78	2.43e0	SMART
TNFR	81	123	3.21e-8	SMART
TNFR	125	161	9.45e-6	SMART
transmembrane domain	170	187	N/A	INTRINSIC
DEATH	212	306	2.82e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112472
AA Change: E39G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108091
Gene: ENSMUSG00000024778
AA Change: E39G

Domain	Start	End	E-Value	Type
Blast:TNFR	44	61	5e-6	BLAST
SCOP:d1jmab1	44	61	1e-3	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 73.1%
3x: 63.5%
10x: 31.6%
20x: 17.3%

Validation Efficiency

79% (146/184)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mutations in this locus affect immune function and homozygotes show varying severity of lymphadenopathy, splenomegaly, lymphocytic infiltrations, elevated immunoglobulin levels, autoantibodies, impaired clonal deletion of T cells, and lupus-like disease. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 7 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Fig4	A	G	10: 41,127,821 (GRCm39)	S548P	probably damaging	Het
Msh4	T	A	3: 153,594,455 (GRCm39)	E115D	probably damaging	Het
Ptpn13	A	G	5: 103,676,686 (GRCm39)	E683G	probably benign	Het
Rasgrp3	G	T	17: 75,807,708 (GRCm39)	R255L	probably damaging	Het
Rnf168	C	T	16: 32,117,705 (GRCm39)	T422I	probably damaging	Het
Smarcd1	T	C	15: 99,610,242 (GRCm39)		probably benign	Het
Stxbp1	T	C	2: 32,713,550 (GRCm39)	K29E	probably damaging	Het

Other mutations in Fas

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Fas	APN	19	34,296,018 (GRCm39)	missense	probably damaging	1.00
IGL01677:Fas	APN	19	34,296,218 (GRCm39)	missense	probably benign	0.09
IGL01834:Fas	APN	19	34,296,003 (GRCm39)	missense	probably benign	0.33
IGL02130:Fas	APN	19	34,292,695 (GRCm39)	missense	probably benign	0.01
IGL02424:Fas	APN	19	34,304,434 (GRCm39)	missense	probably damaging	1.00
IGL02532:Fas	APN	19	34,293,999 (GRCm39)	missense	probably damaging	0.99
IGL02569:Fas	APN	19	34,297,962 (GRCm39)	missense	possibly damaging	0.93
amarena	UTSW	19	34,296,049 (GRCm39)	missense	probably benign	0.01
bing	UTSW	19	34,293,969 (GRCm39)	missense	probably damaging	1.00
cherry	UTSW	19	34,304,540 (GRCm39)	missense	probably damaging	0.99
R0525:Fas	UTSW	19	34,296,727 (GRCm39)	missense	probably damaging	1.00
R0588:Fas	UTSW	19	34,304,540 (GRCm39)	missense	probably damaging	0.99
R1465:Fas	UTSW	19	34,294,013 (GRCm39)	missense	probably damaging	1.00
R1465:Fas	UTSW	19	34,294,013 (GRCm39)	missense	probably damaging	1.00
R2077:Fas	UTSW	19	34,297,953 (GRCm39)	splice site	probably benign
R2283:Fas	UTSW	19	34,284,649 (GRCm39)	missense	probably damaging	1.00
R4154:Fas	UTSW	19	34,296,228 (GRCm39)	missense	possibly damaging	0.72
R5252:Fas	UTSW	19	34,294,043 (GRCm39)	missense	probably damaging	0.99
R5943:Fas	UTSW	19	34,297,987 (GRCm39)	critical splice donor site	probably null
R6474:Fas	UTSW	19	34,293,969 (GRCm39)	missense	probably damaging	1.00
R6837:Fas	UTSW	19	34,284,564 (GRCm39)	missense	probably damaging	0.97
R7640:Fas	UTSW	19	34,284,564 (GRCm39)	missense	possibly damaging	0.46
R8507:Fas	UTSW	19	34,304,626 (GRCm39)	missense	probably benign	0.00
R8837:Fas	UTSW	19	34,296,049 (GRCm39)	missense	probably benign	0.01

Posted On

2012-10-29