Incidental Mutation 'R8507:Fas'
ID 655675
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 067843-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R8507 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 34268066-34305172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34304626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 296 (R296C)
Ref Sequence ENSEMBL: ENSMUSP00000025691 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025691]
AlphaFold P25446
PDB Structure Structure of the FAS/FADD death domain assembly [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000025691
AA Change: R296C

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000025691
Gene: ENSMUSG00000024778
AA Change: R296C

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam7 A G 14: 68,763,773 (GRCm39) C126R probably damaging Het
Agpat5 G A 8: 18,928,043 (GRCm39) V203I possibly damaging Het
Ankrd12 T A 17: 66,293,904 (GRCm39) R510* probably null Het
Anxa6 C T 11: 54,904,696 (GRCm39) A22T probably benign Het
Barx2 A T 9: 31,770,309 (GRCm39) L73Q probably damaging Het
BC024139 T C 15: 76,004,333 (GRCm39) K702R possibly damaging Het
Cc2d1a T C 8: 84,861,605 (GRCm39) K739R probably benign Het
Cdk12 A G 11: 98,141,111 (GRCm39) T1451A unknown Het
Chd7 A G 4: 8,858,675 (GRCm39) E2367G probably damaging Het
Cp A G 3: 20,025,193 (GRCm39) Y384C probably damaging Het
Dnah14 T A 1: 181,468,979 (GRCm39) W1270R probably benign Het
Dyrk2 G T 10: 118,696,567 (GRCm39) S230R probably damaging Het
Epn3 A T 11: 94,384,602 (GRCm39) S290R probably damaging Het
Fmnl1 A T 11: 103,084,859 (GRCm39) N659I unknown Het
Gas8 T C 8: 124,257,777 (GRCm39) probably null Het
Gpr156 A G 16: 37,768,598 (GRCm39) T40A probably benign Het
Hey1 G C 3: 8,729,836 (GRCm39) A207G probably benign Het
Htr3b C A 9: 48,876,177 (GRCm39) probably benign Het
Itgal C T 7: 126,928,607 (GRCm39) T1044I probably benign Het
Itprid2 A G 2: 79,475,208 (GRCm39) Q389R probably benign Het
Kcnip4 T G 5: 48,639,997 (GRCm39) D38A possibly damaging Het
Kcnma1 G T 14: 23,641,706 (GRCm39) Q216K probably benign Het
Kdsr T A 1: 106,671,400 (GRCm39) E203V probably null Het
Lrp1b T C 2: 41,298,387 (GRCm39) E999G Het
Malt1 T A 18: 65,603,594 (GRCm39) W577R probably damaging Het
Mroh2b A C 15: 4,978,572 (GRCm39) T1373P probably damaging Het
Mymk A G 2: 26,952,712 (GRCm39) probably null Het
Myo1f T A 17: 33,816,992 (GRCm39) H707Q probably benign Het
Ncam2 C A 16: 81,309,867 (GRCm39) H452Q possibly damaging Het
Ndrg4 A G 8: 96,404,975 (GRCm39) M1V probably null Het
Nps C T 7: 134,874,079 (GRCm39) S83L probably damaging Het
Nup155 T A 15: 8,177,044 (GRCm39) Y1040* probably null Het
Or1j15 T C 2: 36,459,443 (GRCm39) Y278H probably damaging Het
Or2ak4 C T 11: 58,648,985 (GRCm39) Q165* probably null Het
Or4f7 T C 2: 111,645,051 (GRCm39) T7A probably benign Het
Or5h22 C T 16: 58,895,243 (GRCm39) V67M possibly damaging Het
Pak1ip1 G A 13: 41,162,770 (GRCm39) R191Q probably benign Het
Pcdh17 G A 14: 84,683,384 (GRCm39) probably benign Het
Pcdhgc5 G T 18: 37,952,945 (GRCm39) R73L probably benign Het
Peg10 C CTCA 6: 4,756,453 (GRCm39) probably benign Het
Plat G T 8: 23,262,248 (GRCm39) G91W probably damaging Het
Plscr4 C T 9: 92,372,843 (GRCm39) R322* probably null Het
Plxnd1 A T 6: 115,943,866 (GRCm39) N1144K probably damaging Het
Ppp1r1b G T 11: 98,246,310 (GRCm39) E133D probably damaging Het
Ptpn13 A G 5: 103,705,815 (GRCm39) E1396G probably damaging Het
Reps1 T C 10: 17,970,218 (GRCm39) S272P probably damaging Het
Ric8b T C 10: 84,816,039 (GRCm39) V430A probably damaging Het
Septin10 A T 10: 59,012,825 (GRCm39) N264K possibly damaging Het
Sgms1 A T 19: 32,137,109 (GRCm39) F152L probably benign Het
Snapc1 C A 12: 74,011,506 (GRCm39) F57L probably damaging Het
Spidr A G 16: 15,786,540 (GRCm39) L401P probably damaging Het
Spn C T 7: 126,735,728 (GRCm39) V260M probably damaging Het
Sptan1 G A 2: 29,916,596 (GRCm39) A2095T probably damaging Het
Tbc1d15 A G 10: 115,038,407 (GRCm39) probably null Het
Thsd7b T A 1: 129,605,790 (GRCm39) F510L probably benign Het
Trpm5 T A 7: 142,632,050 (GRCm39) I920F probably damaging Het
Tspear C A 10: 77,710,898 (GRCm39) H507N probably benign Het
Vmn2r108 T A 17: 20,683,195 (GRCm39) K670* probably null Het
Vmn2r75 A T 7: 85,797,685 (GRCm39) C709* probably null Het
Wdfy3 G T 5: 102,020,767 (GRCm39) S2494R probably benign Het
Zfp456 A T 13: 67,515,108 (GRCm39) F199L probably damaging Het
Zfp830 A G 11: 82,655,529 (GRCm39) Q111R probably benign Het
Znrf1 G A 8: 112,263,842 (GRCm39) A24T probably damaging Het
Other mutations in Fas
AlleleSourceChrCoordTypePredicted EffectPPH 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
P0021:Fas UTSW 19 34,284,610 (GRCm39) missense probably damaging 0.98
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
R8837:Fas UTSW 19 34,296,049 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGCTGAAGACATGACAATCCAG -3'
(R):5'- ACACCAGGAGTTGCCAATG -3'

Sequencing Primer
(F):5'- CTGAAGACATGACAATCCAGGAAGC -3'
(R):5'- CAGGAGTTGCCAATGTCAATAC -3'
Posted On 2020-10-20