Incidental Mutation 'R1465:Fas'
ID 201118
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 039519-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.134) question?
Stock # R1465 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 34268066-34305172 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34294013 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Arginine at position 123 (C123R)
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 damaging
Transcript: ENSMUST00000025691
AA Change: C123R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025691
Gene: ENSMUSG00000024778
AA Change: C123R

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: 97.3%
  • 3x: 96.5%
  • 10x: 93.6%
  • 20x: 86.6%
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: 105 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310030G06Rik A G 9: 50,651,866 (GRCm39) Y121H probably damaging Het
Abca13 G T 11: 9,349,303 (GRCm39) G3626W probably damaging Het
Acvr1c A G 2: 58,174,973 (GRCm39) Y192H probably damaging Het
Afm A T 5: 90,698,200 (GRCm39) D534V probably damaging Het
Agl T C 3: 116,565,021 (GRCm39) E1076G probably benign Het
Ahcyl T C 16: 45,974,211 (GRCm39) K389E probably benign Het
Angptl3 A T 4: 98,925,757 (GRCm39) H361L probably benign Het
Apob T C 12: 8,061,421 (GRCm39) F3301S possibly damaging Het
Arhgef33 T A 17: 80,674,730 (GRCm39) C376S possibly damaging Het
Ass1 A G 2: 31,410,428 (GRCm39) *413W probably null Het
Atp6v1h T A 1: 5,165,911 (GRCm39) L127Q probably damaging Het
Bcl2l1 G A 2: 152,671,870 (GRCm39) S14F probably damaging Het
Bhmt1b T G 18: 87,775,382 (GRCm39) F302V probably damaging Het
Birc6 G A 17: 74,930,853 (GRCm39) A2477T probably benign Het
Bpifb9a G A 2: 154,112,941 (GRCm39) A589T possibly damaging Het
Casp9 C A 4: 141,533,151 (GRCm39) T252K probably benign Het
Cct4 G A 11: 22,952,922 (GRCm39) D533N probably damaging Het
Clcn6 A C 4: 148,098,358 (GRCm39) I555S probably damaging Het
Col4a4 A T 1: 82,475,543 (GRCm39) probably null Het
Cyp2d10 A T 15: 82,288,129 (GRCm39) probably null Het
D930048N14Rik A G 11: 51,545,740 (GRCm39) probably benign Het
Dhfr A G 13: 92,504,815 (GRCm39) probably benign Het
Dlg5 T C 14: 24,204,764 (GRCm39) probably null Het
Dnah11 T C 12: 118,002,430 (GRCm39) E2240G probably damaging Het
Dnmt3a A G 12: 3,916,088 (GRCm39) E17G probably damaging Het
Dock1 A G 7: 134,384,138 (GRCm39) T670A probably benign Het
Dpy19l2 A G 9: 24,580,618 (GRCm39) M241T probably benign Het
Dpy19l4 A G 4: 11,296,034 (GRCm39) S212P probably damaging Het
Ephb6 T C 6: 41,593,040 (GRCm39) F426S probably damaging Het
F5 A T 1: 164,026,402 (GRCm39) D1658V probably benign Het
Faah A T 4: 115,856,755 (GRCm39) V469E probably damaging Het
Fhod1 T C 8: 106,065,546 (GRCm39) probably benign Het
Filip1 A G 9: 79,805,589 (GRCm39) V55A probably benign Het
Frmpd1 G A 4: 45,273,197 (GRCm39) R372Q probably damaging Het
Glyctk C T 9: 106,034,806 (GRCm39) G87S probably damaging Het
Golga3 T C 5: 110,357,744 (GRCm39) L1080P probably damaging Het
Gpr137 T C 19: 6,915,812 (GRCm39) T281A probably benign Het
Grap2 T A 15: 80,532,612 (GRCm39) probably null Het
Hlcs T C 16: 94,069,151 (GRCm39) D170G probably damaging Het
Hook1 A G 4: 95,901,493 (GRCm39) T484A probably benign Het
Hoxa5 T A 6: 52,180,771 (GRCm39) H187L probably benign Het
Inpp1 G T 1: 52,829,253 (GRCm39) S255R probably benign Het
Inpp4b T A 8: 82,494,786 (GRCm39) V67E probably damaging Het
Iqgap3 A G 3: 87,994,616 (GRCm39) N105S probably damaging Het
Kcnq5 A G 1: 21,539,692 (GRCm39) probably null Het
Klhl1 T C 14: 96,477,649 (GRCm39) N473S probably benign Het
Klk1b24 C A 7: 43,840,785 (GRCm39) T71N probably benign Het
Loxhd1 A G 18: 77,468,269 (GRCm39) probably null Het
Lrp1b C T 2: 41,001,071 (GRCm39) R2165Q probably benign Het
Lrp2bp A T 8: 46,478,272 (GRCm39) Q328L possibly damaging Het
Lrrc63 T A 14: 75,344,829 (GRCm39) K419N possibly damaging Het
Lrrc9 A G 12: 72,547,533 (GRCm39) N150S probably benign Het
Lrrn4 C A 2: 132,713,995 (GRCm39) C317F probably damaging Het
Ltbp2 T C 12: 84,860,074 (GRCm39) S627G probably damaging Het
Macf1 A T 4: 123,386,947 (GRCm39) S1224T probably damaging Het
Meis2 A C 2: 115,889,151 (GRCm39) H200Q probably benign Het
Mesd C A 7: 83,544,790 (GRCm39) A80E probably benign Het
Mtor G T 4: 148,610,450 (GRCm39) probably benign Het
Myo3a T C 2: 22,467,939 (GRCm39) F398L probably benign Het
Nagpa G T 16: 5,019,392 (GRCm39) probably benign Het
Nanp A G 2: 150,872,749 (GRCm39) C60R probably benign Het
Nectin2 T G 7: 19,464,041 (GRCm39) M313L probably benign Het
Nek4 C T 14: 30,678,844 (GRCm39) H123Y probably damaging Het
Nploc4 A G 11: 120,299,607 (GRCm39) V371A probably damaging Het
Ntrk3 T C 7: 78,005,762 (GRCm39) probably benign Het
Or11g7 A G 14: 50,690,634 (GRCm39) T42A possibly damaging Het
Or13c7b A G 4: 43,820,723 (GRCm39) F213L probably benign Het
Or52n4 T C 7: 104,294,153 (GRCm39) N140S probably benign Het
Or5b109 T A 19: 13,212,265 (GRCm39) V217E possibly damaging Het
Pcdh20 T A 14: 88,706,673 (GRCm39) Q209L probably benign Het
Pcdhb20 G A 18: 37,637,750 (GRCm39) R92H probably damaging Het
Pgap1 T C 1: 54,567,714 (GRCm39) H377R probably benign Het
Phyhipl G T 10: 70,406,798 (GRCm39) P52Q probably damaging Het
Plekhg4 T C 8: 106,107,672 (GRCm39) probably benign Het
Pwwp2a T A 11: 43,596,383 (GRCm39) V516E possibly damaging Het
Rack1 T C 11: 48,692,586 (GRCm39) V69A probably damaging Het
Rexo5 T A 7: 119,400,581 (GRCm39) probably null Het
Rnf123 T C 9: 107,948,665 (GRCm39) probably benign Het
Rock1 G T 18: 10,072,863 (GRCm39) Q1161K possibly damaging Het
Rps6ka2 T C 17: 7,560,266 (GRCm39) L568P probably damaging Het
Seh1l T C 18: 67,917,054 (GRCm39) S78P probably damaging Het
Serpinb3b A T 1: 107,083,573 (GRCm39) probably null Het
Setd1a T C 7: 127,387,512 (GRCm39) probably benign Het
Setx G T 2: 29,030,401 (GRCm39) probably null Het
Sh3bp1 T C 15: 78,791,545 (GRCm39) probably benign Het
Shc2 G T 10: 79,467,136 (GRCm39) R146S probably damaging Het
Skap2 T C 6: 51,886,348 (GRCm39) T5A probably benign Het
Skor2 A T 18: 76,964,340 (GRCm39) probably benign Het
Slc35a3 T C 3: 116,480,983 (GRCm39) I93M probably benign Het
Sohlh1 C T 2: 25,733,359 (GRCm39) G295D probably damaging Het
Speg A G 1: 75,405,128 (GRCm39) probably benign Het
Sult2a8 A C 7: 14,150,208 (GRCm39) C168G probably benign Het
Tax1bp1 T C 6: 52,704,179 (GRCm39) probably benign Het
Tbc1d4 T C 14: 101,685,124 (GRCm39) I1176V possibly damaging Het
Tcof1 A G 18: 60,952,026 (GRCm39) probably benign Het
Thada A T 17: 84,744,104 (GRCm39) F735I possibly damaging Het
Tle1 A C 4: 72,058,068 (GRCm39) H52Q probably damaging Het
Tmem101 A T 11: 102,044,155 (GRCm39) V244E probably damaging Het
Tnfrsf26 C A 7: 143,171,668 (GRCm39) C95F probably damaging Het
Uspl1 T C 5: 149,150,842 (GRCm39) S482P probably benign Het
Vmn2r118 G T 17: 55,917,935 (GRCm39) N192K probably benign Het
Vmn2r14 C T 5: 109,368,195 (GRCm39) V266I possibly damaging Het
Vmn2r51 A G 7: 9,834,249 (GRCm39) I263T probably damaging Het
Zfp937 T A 2: 150,080,967 (GRCm39) C332* probably null Het
Zscan21 T A 5: 138,123,470 (GRCm39) S50T probably benign 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
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
Predicted Primers PCR Primer
(F):5'- TGATGGCGGCAATGGTTTCCAG -3'
(R):5'- AGCCCCGAACTCTCATTCAGTGTG -3'

Sequencing Primer
(F):5'- gccagaagagggcatcag -3'
(R):5'- GGTTCTACTCTCAGAAGGCAG -3'
Posted On 2014-05-23