Incidental Mutation 'R9004:Faf1'
ID 685133
Institutional Source Beutler Lab
Gene Symbol Faf1
Ensembl Gene ENSMUSG00000010517
Gene Name Fas-associated factor 1
Synonyms Dffrx, Fam
MMRRC Submission 068834-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9004 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 109533873-109821157 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 109698550 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 337 (T337A)
Ref Sequence ENSEMBL: ENSMUSP00000099785 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102724]
AlphaFold P54731
Predicted Effect probably benign
Transcript: ENSMUST00000102724
AA Change: T337A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099785
Gene: ENSMUSG00000010517
AA Change: T337A

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.3%
Validation Efficiency 100% (69/69)
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: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T A 10: 100,454,197 (GRCm39) probably benign Het
2310057N15Rik C A 16: 88,570,986 (GRCm39) C18F probably damaging Het
Abca7 T A 10: 79,841,483 (GRCm39) M941K probably damaging Het
Abcd2 A G 15: 91,075,051 (GRCm39) I254T probably benign Het
Abcg8 C A 17: 85,004,790 (GRCm39) T519K probably benign Het
Adcy9 A G 16: 4,106,378 (GRCm39) V1149A probably damaging Het
Alg10b A G 15: 90,109,894 (GRCm39) Y69C probably damaging Het
Arhgef10l T C 4: 140,279,921 (GRCm39) D529G probably damaging Het
Ascc3 T A 10: 50,718,276 (GRCm39) C1990S probably benign Het
BC034090 T A 1: 155,102,138 (GRCm39) N42I possibly damaging Het
Bptf G A 11: 106,945,713 (GRCm39) P2509S probably damaging Het
Carmil1 T A 13: 24,225,662 (GRCm39) D1042V probably damaging Het
Ccny A G 18: 9,332,883 (GRCm39) V216A possibly damaging Het
Cdr2 T C 7: 120,557,722 (GRCm39) N268D probably benign Het
Cep152 T C 2: 125,453,020 (GRCm39) S351G probably benign Het
Chrm1 T C 19: 8,655,909 (GRCm39) C205R possibly damaging Het
Dalrd3 C A 9: 108,449,430 (GRCm39) D454E probably benign Het
Dmbt1 T C 7: 130,713,798 (GRCm39) L1622P unknown Het
Eif2s2 A G 2: 154,720,404 (GRCm39) Y172H probably benign Het
Ell T A 8: 71,031,604 (GRCm39) S101T probably damaging Het
Fhad1 A T 4: 141,649,735 (GRCm39) probably benign Het
Gen1 T C 12: 11,305,022 (GRCm39) probably benign Het
Gfap A G 11: 102,782,268 (GRCm39) I414T probably benign Het
Ginm1 A C 10: 7,651,019 (GRCm39) V129G probably damaging Het
Helq C T 5: 100,926,598 (GRCm39) probably benign Het
Hoxb3 A G 11: 96,237,137 (GRCm39) D405G possibly damaging Het
Hsp90aa1 A G 12: 110,659,045 (GRCm39) V584A probably damaging Het
Iglc2 T C 16: 19,017,425 (GRCm39) K59R probably benign Het
Inhba T C 13: 16,201,526 (GRCm39) S363P probably benign Het
Kif1c A G 11: 70,615,958 (GRCm39) K656E probably benign Het
Mroh4 G T 15: 74,486,171 (GRCm39) L492I possibly damaging Het
Mthfd1 C T 12: 76,350,754 (GRCm39) T712M probably benign Het
Naaladl1 C A 19: 6,155,965 (GRCm39) D46E probably damaging Het
Nbea C T 3: 55,910,359 (GRCm39) V1279I probably benign Het
Nceh1 T A 3: 27,293,726 (GRCm39) D161E possibly damaging Het
Nck2 A T 1: 43,593,510 (GRCm39) N239I Het
Nlrx1 C T 9: 44,167,644 (GRCm39) R751H probably benign Het
Or10ag54 T A 2: 87,099,695 (GRCm39) F190Y possibly damaging Het
Or8b46 A G 9: 38,450,530 (GRCm39) Y113C probably benign Het
Or8g17 C A 9: 38,930,580 (GRCm39) V86L probably benign Het
Oscar A T 7: 3,619,040 (GRCm39) C13S possibly damaging Het
Pappa2 T A 1: 158,763,979 (GRCm39) I511F probably damaging Het
Pappa2 T C 1: 158,764,518 (GRCm39) D331G possibly damaging Het
Pde4c C T 8: 71,199,515 (GRCm39) S265L possibly damaging Het
Pex1 A G 5: 3,662,914 (GRCm39) S502G probably benign Het
Pigl A G 11: 62,403,779 (GRCm39) Y237C probably damaging Het
Pkd1 A T 17: 24,799,421 (GRCm39) Q2880L probably benign Het
Pkhd1l1 A T 15: 44,406,768 (GRCm39) H2335L probably benign Het
Ppp1r17 A G 6: 56,008,513 (GRCm39) E151G probably damaging Het
Ppp1r27 A G 11: 120,441,849 (GRCm39) Y11H probably damaging Het
Prss54 C A 8: 96,292,137 (GRCm39) K147N possibly damaging Het
Ptchd3 T A 11: 121,732,687 (GRCm39) F526I possibly damaging Het
Ptprt T C 2: 161,608,314 (GRCm39) N661D probably benign Het
Rfpl4b T C 10: 38,697,771 (GRCm39) probably benign Het
Sdad1 T C 5: 92,439,820 (GRCm39) T402A probably benign Het
Stk32c T C 7: 138,702,859 (GRCm39) D178G probably damaging Het
Tas2r119 T C 15: 32,178,109 (GRCm39) L225P probably damaging Het
Tdpoz4 A T 3: 93,704,018 (GRCm39) E105V probably benign Het
Tlk1 A G 2: 70,552,290 (GRCm39) I520T probably damaging Het
Tmf1 A G 6: 97,152,738 (GRCm39) V445A probably benign Het
Tomm6 T C 17: 47,998,833 (GRCm39) D40G possibly damaging Het
Traf6 C A 2: 101,520,443 (GRCm39) Q164K probably benign Het
Tspoap1 A G 11: 87,670,284 (GRCm39) H150R Het
Ube2g2 A T 10: 77,479,434 (GRCm39) M126L probably benign Het
Unc45b A G 11: 82,819,515 (GRCm39) D496G probably damaging Het
Vmn1r74 A C 7: 11,580,840 (GRCm39) I47L probably benign Het
Vmn2r88 A T 14: 51,650,624 (GRCm39) L112F Het
Wwc2 A C 8: 48,373,732 (GRCm39) L45V probably damaging Het
Zfp459 A C 13: 67,556,714 (GRCm39) I123R probably 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
IGL01398:Faf1 APN 4 109,593,793 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- TCCCGTCAGATATATCACAGAAGC -3'
(R):5'- CTGTATTTCTGCATTGCCACAAATG -3'

Sequencing Primer
(F):5'- CGTCAGATATATCACAGAAGCTAAAC -3'
(R):5'- CACAGTAGTATAAGAGAACATCA -3'
Posted On 2021-10-11