Incidental Mutation 'R9322:Fasl'
ID 706246
Institutional Source Beutler Lab
Gene Symbol Fasl
Ensembl Gene ENSMUSG00000000817
Gene Name Fas ligand
Synonyms Fasl, CD95L, APT1LG1, Tnfsf6, Fas-L, CD178
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.374) question?
Stock # R9322 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 161608260-161616064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 161609512 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 158 (L158Q)
Ref Sequence ENSEMBL: ENSMUSP00000000834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000000834] [ENSMUST00000193648]
AlphaFold P41047
Predicted Effect probably damaging
Transcript: ENSMUST00000000834
AA Change: L158Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000000834
Gene: ENSMUSG00000000817
AA Change: L158Q

DomainStartEndE-ValueType
low complexity region 45 70 N/A INTRINSIC
transmembrane domain 78 100 N/A INTRINSIC
TNF 143 279 2.29e-54 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000193648
SMART Domains Protein: ENSMUSP00000141422
Gene: ENSMUSG00000000817

DomainStartEndE-ValueType
Pfam:TNF 1 69 2.3e-15 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the tumor necrosis factor superfamily. The primary function of the encoded transmembrane protein is the induction of apoptosis triggered by binding to FAS. The FAS/FASLG signaling pathway is essential for immune system regulation, including activation-induced cell death (AICD) of T cells and cytotoxic T lymphocyte induced cell death. It has also been implicated in the progression of several cancers. Defects in this gene may be related to some cases of systemic lupus erythematosus (SLE). Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2014]
PHENOTYPE: Mice homozygous for a spontaneous allele, knock-out allele, or allele producting only the soluble isoform exhibit premature death due to the development of systemic lupus erythematosus, autoimmune glomerulonephritis, hepatomegaly, lymphadenopathy, and hypergammaglobulinaemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 A G 11: 110,192,331 (GRCm39) V727A probably damaging Het
Arhgef33 T A 17: 80,677,818 (GRCm39) L455* probably null Het
Arnt T C 3: 95,397,929 (GRCm39) S591P probably benign Het
Asic4 A G 1: 75,446,462 (GRCm39) M335V probably benign Het
Atp1a2 A G 1: 172,107,625 (GRCm39) S665P possibly damaging Het
Cat T C 2: 103,303,333 (GRCm39) N148S probably damaging Het
Ccdc121rt3 T A 5: 112,503,272 (GRCm39) Y144F probably damaging Het
Ccdc9 T C 7: 16,012,360 (GRCm39) D274G probably damaging Het
Ciao3 G C 17: 25,998,548 (GRCm39) Q217H probably damaging Het
Csnk1g2 T C 10: 80,474,978 (GRCm39) Y332H probably damaging Het
Csrnp1 T C 9: 119,801,853 (GRCm39) E402G probably damaging Het
Dchs2 T A 3: 83,189,001 (GRCm39) I1455N possibly damaging Het
Dnah12 A T 14: 26,492,934 (GRCm39) I1232F possibly damaging Het
Dsn1 C T 2: 156,843,669 (GRCm39) V144I possibly damaging Het
Efcab3 A T 11: 104,765,199 (GRCm39) E2501V probably benign Het
Epha6 A T 16: 60,245,118 (GRCm39) S360R probably damaging Het
Filip1 A T 9: 79,727,014 (GRCm39) V535E probably benign Het
Fmo5 A T 3: 97,546,190 (GRCm39) K168* probably null Het
Gm5157 T G 7: 20,919,431 (GRCm39) K37N probably benign Het
Grm8 T A 6: 27,363,728 (GRCm39) I596F possibly damaging Het
Il23a T C 10: 128,132,990 (GRCm39) E123G probably benign Het
Itpr2 T C 6: 146,226,587 (GRCm39) T1386A probably benign Het
Krt79 T A 15: 101,840,245 (GRCm39) Q317L possibly damaging Het
Lhx4 A G 1: 155,578,353 (GRCm39) I263T probably benign Het
Med4 T C 14: 73,747,601 (GRCm39) L34P probably damaging Het
Mid1 C G X: 168,768,003 (GRCm39) P384A probably benign Het
Mief2 A T 11: 60,621,844 (GRCm39) H138L possibly damaging Het
Nat3 A T 8: 68,000,162 (GRCm39) K14* probably null Het
Nbeal1 T A 1: 60,297,818 (GRCm39) I1216N possibly damaging Het
Nlrp1b T C 11: 71,108,118 (GRCm39) E461G probably benign Het
Or11h23 C A 14: 50,948,507 (GRCm39) T240N probably damaging Het
Or5aq7 T C 2: 86,938,561 (GRCm39) T57A probably damaging Het
Or5p4 C T 7: 107,680,727 (GRCm39) T242M probably damaging Het
Pdha2 C A 3: 140,916,550 (GRCm39) M319I probably benign Het
Pik3r2 A G 8: 71,227,494 (GRCm39) V43A possibly damaging Het
Psd T A 19: 46,301,880 (GRCm39) E902V probably damaging Het
Psme3 A C 11: 101,211,437 (GRCm39) H198P probably damaging Het
Rlbp1 T C 7: 79,027,003 (GRCm39) D219G possibly damaging Het
Scn1b C A 7: 30,824,517 (GRCm39) W57L probably damaging Het
Sfrp2 T C 3: 83,674,006 (GRCm39) I53T probably damaging Het
Skic2 T C 17: 35,066,439 (GRCm39) probably null Het
Slc18a3 A G 14: 32,185,282 (GRCm39) I367T probably benign Het
Slc44a2 A T 9: 21,258,246 (GRCm39) R499W probably damaging Het
St18 A G 1: 6,865,747 (GRCm39) D75G probably benign Het
Trim67 C A 8: 125,549,967 (GRCm39) Y532* probably null Het
Ttc16 C T 2: 32,664,952 (GRCm39) probably benign Het
Usp7 A T 16: 8,517,124 (GRCm39) S487T probably damaging Het
Vmn2r104 T C 17: 20,263,087 (GRCm39) T125A probably benign Het
Vmn2r70 T C 7: 85,208,498 (GRCm39) T660A possibly damaging Het
Zer1 A T 2: 30,000,923 (GRCm39) V166D probably benign Het
Other mutations in Fasl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01305:Fasl APN 1 161,609,407 (GRCm39) missense probably damaging 0.99
IGL01510:Fasl APN 1 161,609,522 (GRCm39) missense possibly damaging 0.50
riogrande UTSW 1 161,615,733 (GRCm39) missense probably benign
riogrande2 UTSW 1 161,614,707 (GRCm39) missense probably benign 0.00
ANU22:Fasl UTSW 1 161,609,407 (GRCm39) missense probably damaging 0.99
R0012:Fasl UTSW 1 161,615,733 (GRCm39) missense probably benign
R0454:Fasl UTSW 1 161,615,523 (GRCm39) missense probably benign 0.16
R2167:Fasl UTSW 1 161,614,707 (GRCm39) missense probably benign 0.00
R3794:Fasl UTSW 1 161,609,306 (GRCm39) missense probably benign 0.16
R3911:Fasl UTSW 1 161,615,760 (GRCm39) missense probably benign 0.10
R4082:Fasl UTSW 1 161,609,420 (GRCm39) missense probably damaging 1.00
R4596:Fasl UTSW 1 161,615,838 (GRCm39) missense probably benign 0.31
R4622:Fasl UTSW 1 161,614,703 (GRCm39) missense probably benign 0.00
R6785:Fasl UTSW 1 161,609,404 (GRCm39) missense probably benign 0.10
R6969:Fasl UTSW 1 161,609,244 (GRCm39) missense probably damaging 0.98
R7248:Fasl UTSW 1 161,615,760 (GRCm39) missense possibly damaging 0.90
R7336:Fasl UTSW 1 161,615,557 (GRCm39) missense probably damaging 1.00
R8135:Fasl UTSW 1 161,614,697 (GRCm39) missense probably benign
R9723:Fasl UTSW 1 161,615,535 (GRCm39) missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- TCCAGTAGTGCAGTAGTTCAAC -3'
(R):5'- CGTGCTGAAGAAACTCAGTGG -3'

Sequencing Primer
(F):5'- AGTAGTGCAGTAGTTCAACCTCTTC -3'
(R):5'- CTGAAGAAACTCAGTGGGGGAC -3'
Posted On 2022-04-18