Incidental Mutation 'IGL01398:Faf1'
ID 79537
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faf1
Ensembl Gene ENSMUSG00000010517
Gene Name Fas-associated factor 1
Synonyms Dffrx, Fam
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01398
Quality Score
Status
Chromosome 4
Chromosomal Location 109533873-109821157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 109593793 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 124 (I124F)
Ref Sequence ENSEMBL: ENSMUSP00000099785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102724]
AlphaFold P54731
Predicted Effect probably damaging
Transcript: ENSMUST00000102724
AA Change: I124F

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099785
Gene: ENSMUSG00000010517
AA Change: I124F

DomainStartEndE-ValueType
Pfam:UBA_4 8 43 2.5e-10 PFAM
low complexity region 68 82 N/A INTRINSIC
internal_repeat_1 109 155 3.24e-5 PROSPERO
low complexity region 174 180 N/A INTRINSIC
internal_repeat_1 204 250 3.24e-5 PROSPERO
UAS 335 480 3.79e-69 SMART
coiled coil region 496 560 N/A INTRINSIC
UBX 565 647 2.32e-33 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Interaction of Fas ligand (TNFSF6) with the FAS antigen (TNFRSF6) mediates programmed cell death, also called apoptosis, in a number of organ systems. The protein encoded by this gene binds to FAS antigen and can initiate apoptosis or enhance apoptosis initiated through FAS antigen. Initiation of apoptosis by the protein encoded by this gene requires a ubiquitin-like domain but not the FAS-binding domain. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous fail to develop beyond 2-cell stage. Mice homozygous for a hypomorphic gene trap allele exhibit decreased susceptibility to dopaminergic neuron neurotoxicity. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 T C 11: 69,772,548 (GRCm39) D521G probably damaging Het
Apol11b G A 15: 77,522,219 (GRCm39) T26M probably damaging Het
Best2 T A 8: 85,735,956 (GRCm39) Y326F probably damaging Het
Clca3a1 T C 3: 144,722,512 (GRCm39) T287A possibly damaging Het
Cyp26a1 C T 19: 37,686,395 (GRCm39) T13I probably damaging Het
Dhcr7 T C 7: 143,395,056 (GRCm39) S188P probably damaging Het
Eml3 T G 19: 8,911,598 (GRCm39) probably benign Het
Fkbp9 T A 6: 56,837,790 (GRCm39) probably benign Het
Foxq1 G A 13: 31,743,434 (GRCm39) D179N probably damaging Het
Frem1 C T 4: 82,868,599 (GRCm39) V1443M possibly damaging Het
Gpnmb T A 6: 49,027,365 (GRCm39) M363K probably benign Het
Grm3 T C 5: 9,535,762 (GRCm39) probably benign Het
Ints3 A G 3: 90,300,130 (GRCm39) L929P probably damaging Het
Myh11 T A 16: 14,019,964 (GRCm39) I1823F probably damaging Het
Nudt9 T C 5: 104,212,979 (GRCm39) *351Q probably null Het
Or2ak6 A T 11: 58,592,593 (GRCm39) H22L probably benign Het
Or4c107 C T 2: 88,789,193 (GRCm39) P128S probably damaging Het
Or8k38 A T 2: 86,488,032 (GRCm39) F257I probably damaging Het
Pgr15l C T X: 96,121,785 (GRCm39) T392I probably benign Het
Sdk1 C A 5: 141,923,332 (GRCm39) L318I probably benign Het
Sult1c2 C A 17: 54,269,180 (GRCm39) V279L possibly damaging Het
Tek T C 4: 94,738,014 (GRCm39) I688T probably damaging Het
Telo2 A T 17: 25,324,748 (GRCm39) D477E probably benign Het
Ubr3 T A 2: 69,789,997 (GRCm39) Y884N probably damaging Het
Upf3a C A 8: 13,836,221 (GRCm39) H92Q probably damaging Het
Vmn2r51 C T 7: 9,836,341 (GRCm39) E147K probably benign Het
Vps54 A G 11: 21,245,403 (GRCm39) probably benign Het
Zdhhc14 T C 17: 5,762,738 (GRCm39) I214T possibly damaging Het
Other mutations in Faf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Faf1 APN 4 109,697,578 (GRCm39) missense probably benign 0.10
IGL00569:Faf1 APN 4 109,819,077 (GRCm39) makesense probably null
IGL01640:Faf1 APN 4 109,697,600 (GRCm39) missense probably damaging 1.00
IGL01739:Faf1 APN 4 109,534,278 (GRCm39) splice site probably benign
IGL02265:Faf1 APN 4 109,600,101 (GRCm39) missense probably benign 0.00
IGL02372:Faf1 APN 4 109,792,779 (GRCm39) missense probably benign 0.17
IGL02999:Faf1 APN 4 109,719,090 (GRCm39) missense probably benign 0.01
R0058:Faf1 UTSW 4 109,593,821 (GRCm39) missense probably benign 0.00
R0058:Faf1 UTSW 4 109,593,821 (GRCm39) missense probably benign 0.00
R0098:Faf1 UTSW 4 109,792,696 (GRCm39) missense probably damaging 0.99
R0098:Faf1 UTSW 4 109,792,696 (GRCm39) missense probably damaging 0.99
R0183:Faf1 UTSW 4 109,792,807 (GRCm39) missense probably benign
R0463:Faf1 UTSW 4 109,748,138 (GRCm39) missense probably benign 0.02
R0505:Faf1 UTSW 4 109,697,600 (GRCm39) missense possibly damaging 0.91
R0755:Faf1 UTSW 4 109,819,036 (GRCm39) missense probably benign 0.00
R1705:Faf1 UTSW 4 109,534,199 (GRCm39) start gained probably benign
R2061:Faf1 UTSW 4 109,568,005 (GRCm39) missense probably damaging 1.00
R2132:Faf1 UTSW 4 109,568,042 (GRCm39) missense probably damaging 1.00
R2133:Faf1 UTSW 4 109,568,042 (GRCm39) missense probably damaging 1.00
R2696:Faf1 UTSW 4 109,698,525 (GRCm39) missense possibly damaging 0.92
R3937:Faf1 UTSW 4 109,614,889 (GRCm39) splice site probably benign
R3939:Faf1 UTSW 4 109,719,076 (GRCm39) missense probably damaging 1.00
R4602:Faf1 UTSW 4 109,584,625 (GRCm39) missense probably benign
R4727:Faf1 UTSW 4 109,697,564 (GRCm39) missense probably damaging 0.96
R4860:Faf1 UTSW 4 109,600,093 (GRCm39) missense probably damaging 0.99
R4860:Faf1 UTSW 4 109,600,093 (GRCm39) missense probably damaging 0.99
R4896:Faf1 UTSW 4 109,699,496 (GRCm39) missense probably benign 0.02
R4913:Faf1 UTSW 4 109,792,746 (GRCm39) missense possibly damaging 0.96
R5688:Faf1 UTSW 4 109,652,010 (GRCm39) missense probably damaging 1.00
R5721:Faf1 UTSW 4 109,792,863 (GRCm39) missense probably benign 0.34
R5905:Faf1 UTSW 4 109,748,126 (GRCm39) missense probably benign 0.03
R6190:Faf1 UTSW 4 109,719,012 (GRCm39) missense probably damaging 0.97
R6364:Faf1 UTSW 4 109,818,997 (GRCm39) missense possibly damaging 0.46
R6454:Faf1 UTSW 4 109,699,531 (GRCm39) missense probably benign 0.27
R6805:Faf1 UTSW 4 109,719,049 (GRCm39) missense probably damaging 1.00
R7101:Faf1 UTSW 4 109,783,153 (GRCm39) missense probably benign 0.12
R7381:Faf1 UTSW 4 109,719,134 (GRCm39) missense probably damaging 0.99
R7392:Faf1 UTSW 4 109,652,040 (GRCm39) missense probably benign 0.01
R7584:Faf1 UTSW 4 109,783,154 (GRCm39) missense probably damaging 0.99
R7660:Faf1 UTSW 4 109,719,034 (GRCm39) missense probably damaging 0.98
R7678:Faf1 UTSW 4 109,687,061 (GRCm39) missense probably benign 0.00
R7715:Faf1 UTSW 4 109,568,011 (GRCm39) missense probably damaging 0.99
R7721:Faf1 UTSW 4 109,593,794 (GRCm39) missense probably damaging 1.00
R8773:Faf1 UTSW 4 109,699,507 (GRCm39) missense possibly damaging 0.81
R9004:Faf1 UTSW 4 109,698,550 (GRCm39) missense probably benign 0.01
R9028:Faf1 UTSW 4 109,748,105 (GRCm39) missense possibly damaging 0.54
R9646:Faf1 UTSW 4 109,652,016 (GRCm39) missense probably damaging 1.00
R9700:Faf1 UTSW 4 109,748,179 (GRCm39) missense possibly damaging 0.48
Z1176:Faf1 UTSW 4 109,697,553 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05