Incidental Mutation 'IGL01640:Faf1'
ID93101
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faf1
Ensembl Gene ENSMUSG00000010517
Gene NameFas-associated factor 1
SynonymsDffrx, Fam
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01640
Quality Score
Status
Chromosome4
Chromosomal Location109676588-109963960 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 109840403 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 309 (F309I)
Ref Sequence ENSEMBL: ENSMUSP00000099785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102724]
Predicted Effect probably damaging
Transcript: ENSMUST00000102724
AA Change: F309I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099785
Gene: ENSMUSG00000010517
AA Change: F309I

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155204
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003H04Rik T C 3: 124,579,938 T3A probably damaging Het
4933402N03Rik A T 7: 131,139,119 S123T possibly damaging Het
Adamts17 A T 7: 67,029,680 T559S probably damaging Het
Adh4 C T 3: 138,429,027 probably benign Het
Arel1 G A 12: 84,920,701 T783M probably damaging Het
B3gntl1 C T 11: 121,673,020 E5K probably benign Het
Fhod3 T G 18: 25,115,793 M1343R probably benign Het
Fnbp1 A G 2: 31,105,291 F44L probably damaging Het
Gm3633 A T 14: 42,638,367 Y206* probably null Het
Gprc6a A C 10: 51,627,084 F228V probably damaging Het
Il31ra T C 13: 112,531,758 I453V possibly damaging Het
Kif2a A G 13: 106,974,552 I529T probably damaging Het
Lrrc19 C T 4: 94,638,508 V271I probably damaging Het
Ncaph2 A G 15: 89,363,838 probably null Het
Nek5 A G 8: 22,120,840 I49T probably benign Het
Nhlrc3 A T 3: 53,453,537 probably benign Het
Olfr616 A G 7: 103,565,021 V86A probably damaging Het
Olfr659 A T 7: 104,671,664 S321C probably damaging Het
Olfr945 C A 9: 39,258,263 M136I probably damaging Het
Pcnx2 T C 8: 125,801,558 T1308A probably benign Het
Pla2g6 T C 15: 79,304,313 N448S probably benign Het
Pole T A 5: 110,298,266 L571Q probably null Het
Rufy1 A G 11: 50,390,378 probably benign Het
Sftpd C A 14: 41,172,635 A276S probably benign Het
Slc35f4 A C 14: 49,318,768 V176G probably damaging Het
Snrpb T C 2: 130,175,331 D89G probably benign Het
Stab2 A T 10: 86,954,171 V577D probably benign Het
Synrg A C 11: 83,981,508 S152R probably damaging Het
Tcrg-V7 T C 13: 19,178,090 probably benign Het
Trpm1 A G 7: 64,226,897 E682G probably damaging Het
Unc80 T C 1: 66,679,585 I2989T probably benign Het
Vmn1r116 A G 7: 20,872,448 T65A probably benign Het
Zfp469 G A 8: 122,271,270 probably benign Het
Other mutations in Faf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00519:Faf1 APN 4 109840381 missense probably benign 0.10
IGL00569:Faf1 APN 4 109961880 makesense probably null
IGL01398:Faf1 APN 4 109736596 missense probably damaging 0.99
IGL01739:Faf1 APN 4 109677081 splice site probably benign
IGL02265:Faf1 APN 4 109742904 missense probably benign 0.00
IGL02372:Faf1 APN 4 109935582 missense probably benign 0.17
IGL02999:Faf1 APN 4 109861893 missense probably benign 0.01
R0058:Faf1 UTSW 4 109736624 missense probably benign 0.00
R0058:Faf1 UTSW 4 109736624 missense probably benign 0.00
R0098:Faf1 UTSW 4 109935499 missense probably damaging 0.99
R0098:Faf1 UTSW 4 109935499 missense probably damaging 0.99
R0183:Faf1 UTSW 4 109935610 missense probably benign
R0463:Faf1 UTSW 4 109890941 missense probably benign 0.02
R0505:Faf1 UTSW 4 109840403 missense possibly damaging 0.91
R0755:Faf1 UTSW 4 109961839 missense probably benign 0.00
R1705:Faf1 UTSW 4 109677002 start gained probably benign
R2061:Faf1 UTSW 4 109710808 missense probably damaging 1.00
R2132:Faf1 UTSW 4 109710845 missense probably damaging 1.00
R2133:Faf1 UTSW 4 109710845 missense probably damaging 1.00
R2696:Faf1 UTSW 4 109841328 missense possibly damaging 0.92
R3937:Faf1 UTSW 4 109757692 splice site probably benign
R3939:Faf1 UTSW 4 109861879 missense probably damaging 1.00
R4602:Faf1 UTSW 4 109727428 missense probably benign
R4727:Faf1 UTSW 4 109840367 missense probably damaging 0.96
R4860:Faf1 UTSW 4 109742896 missense probably damaging 0.99
R4860:Faf1 UTSW 4 109742896 missense probably damaging 0.99
R4896:Faf1 UTSW 4 109842299 missense probably benign 0.02
R4913:Faf1 UTSW 4 109935549 missense possibly damaging 0.96
R5688:Faf1 UTSW 4 109794813 missense probably damaging 1.00
R5721:Faf1 UTSW 4 109935666 missense probably benign 0.34
R5905:Faf1 UTSW 4 109890929 missense probably benign 0.03
R6190:Faf1 UTSW 4 109861815 missense probably damaging 0.97
R6364:Faf1 UTSW 4 109961800 missense possibly damaging 0.46
R6454:Faf1 UTSW 4 109842334 missense probably benign 0.27
R6805:Faf1 UTSW 4 109861852 missense probably damaging 1.00
R7101:Faf1 UTSW 4 109925956 missense probably benign 0.12
R7381:Faf1 UTSW 4 109861937 missense probably damaging 0.99
R7392:Faf1 UTSW 4 109794843 missense probably benign 0.01
R7584:Faf1 UTSW 4 109925957 missense probably damaging 0.99
R7660:Faf1 UTSW 4 109861837 missense probably damaging 0.98
R7678:Faf1 UTSW 4 109829864 missense probably benign 0.00
R7715:Faf1 UTSW 4 109710814 missense probably damaging 0.99
R7721:Faf1 UTSW 4 109736597 missense probably damaging 1.00
Posted On2013-12-09