Incidental Mutation 'IGL01305:Fasl'
ID 73409
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fasl
Ensembl Gene ENSMUSG00000000817
Gene Name Fas ligand
Synonyms Fasl, CD95L, APT1LG1, Tnfsf6, Fas-L, CD178
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.418) question?
Stock # IGL01305
Quality Score
Status
Chromosome 1
Chromosomal Location 161608260-161616064 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 161609407 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 193 (V193A)
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: V193A

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000000834
Gene: ENSMUSG00000000817
AA Change: V193A

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
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aco2 A G 15: 81,797,915 (GRCm39) E663G possibly damaging Het
Adam29 T A 8: 56,324,879 (GRCm39) H525L probably benign Het
Adamts6 T A 13: 104,526,590 (GRCm39) V506E probably damaging Het
Ankfy1 G A 11: 72,655,617 (GRCm39) E1101K probably damaging Het
Arap3 C T 18: 38,124,380 (GRCm39) probably null Het
Asxl3 T A 18: 22,649,503 (GRCm39) H497Q probably benign Het
Caln1 A G 5: 130,698,392 (GRCm39) E96G probably damaging Het
Cdh23 T C 10: 60,148,403 (GRCm39) T2653A probably damaging Het
Cdk5rap2 T A 4: 70,298,472 (GRCm39) I87F possibly damaging Het
Chi3l1 A G 1: 134,110,554 (GRCm39) probably benign Het
Col27a1 A G 4: 63,218,978 (GRCm39) probably benign Het
Crybg3 T A 16: 59,349,590 (GRCm39) H934L probably damaging Het
Cyp2d22 G A 15: 82,255,869 (GRCm39) T461I probably damaging Het
Dhcr24 T C 4: 106,429,475 (GRCm39) F183L possibly damaging Het
Dnajc13 T C 9: 104,107,836 (GRCm39) probably null Het
Dusp16 A T 6: 134,695,824 (GRCm39) S336T probably benign Het
F930017D23Rik T G 10: 43,480,371 (GRCm39) noncoding transcript Het
Fgf5 T C 5: 98,423,175 (GRCm39) Y187H probably damaging Het
Focad C A 4: 88,311,784 (GRCm39) Q1423K probably benign Het
Gabrp T C 11: 33,505,055 (GRCm39) T249A probably damaging Het
Galnt5 A T 2: 57,915,354 (GRCm39) K637* probably null Het
Gm20479 G A 7: 27,056,812 (GRCm39) R2525* probably null Het
Grm6 A T 11: 50,750,346 (GRCm39) D503V probably benign Het
Hmg20a A T 9: 56,394,934 (GRCm39) D216V probably damaging Het
Lyst C T 13: 13,852,641 (GRCm39) R2214C probably benign Het
Micu2 T A 14: 58,181,082 (GRCm39) D184V probably damaging Het
Nabp2 T A 10: 128,244,631 (GRCm39) I52F probably damaging Het
Nat8f7 A T 6: 85,684,570 (GRCm39) L90* probably null Het
Or2z2 A T 11: 58,346,088 (GRCm39) M229K probably damaging Het
Or4k47 T C 2: 111,451,546 (GRCm39) N291S probably damaging Het
Pphln1 A G 15: 93,386,985 (GRCm39) E273G probably damaging Het
Ppil1 C A 17: 29,482,862 (GRCm39) V14F possibly damaging Het
Relt A T 7: 100,500,905 (GRCm39) L28Q probably damaging Het
Rpl21 A G 5: 146,770,996 (GRCm39) probably benign Het
Rrp36 A T 17: 46,979,017 (GRCm39) probably benign Het
Skic8 C A 9: 54,635,470 (GRCm39) V44L probably damaging Het
St8sia5 G A 18: 77,342,358 (GRCm39) G320D probably damaging Het
Taf2 T C 15: 54,911,670 (GRCm39) E582G probably damaging Het
Tas2r116 T A 6: 132,832,406 (GRCm39) N2K probably benign Het
Tmem168 A T 6: 13,583,045 (GRCm39) V612E probably damaging Het
Unc79 A G 12: 102,968,130 (GRCm39) S119G probably damaging Het
Washc5 T A 15: 59,227,688 (GRCm39) K425* probably null Het
Wtap G T 17: 13,186,782 (GRCm39) T255K probably benign Het
Zfp148 T C 16: 33,277,313 (GRCm39) V134A probably benign Het
Other mutations in Fasl
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R9322:Fasl UTSW 1 161,609,512 (GRCm39) missense probably damaging 1.00
R9723:Fasl UTSW 1 161,615,535 (GRCm39) missense probably benign 0.05
Posted On 2013-10-07