Incidental Mutation 'R1251:Faim'
ID 151765
Institutional Source Beutler Lab
Gene Symbol Faim
Ensembl Gene ENSMUSG00000032463
Gene Name Fas apoptotic inhibitory molecule
Synonyms Faim-L, Faim-S
MMRRC Submission 039318-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.352) question?
Stock # R1251 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 98868426-98884074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 98874687 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 78 (T78M)
Ref Sequence ENSEMBL: ENSMUSP00000140627 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035038] [ENSMUST00000112911] [ENSMUST00000185472]
AlphaFold Q9WUD8
Predicted Effect probably damaging
Transcript: ENSMUST00000035038
AA Change: T78M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000035038
Gene: ENSMUSG00000032463
AA Change: T78M

DomainStartEndE-ValueType
Pfam:FAIM1 1 177 3e-98 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112911
AA Change: T100M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000108532
Gene: ENSMUSG00000032463
AA Change: T100M

DomainStartEndE-ValueType
Pfam:FAIM1 25 197 9.8e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000185472
AA Change: T78M

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000140627
Gene: ENSMUSG00000032463
AA Change: T78M

DomainStartEndE-ValueType
Pfam:FAIM1 1 175 1.8e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186837
Predicted Effect noncoding transcript
Transcript: ENSMUST00000187211
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene protects against death receptor-triggered apoptosis and regulates B-cell signaling and differentiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]
PHENOTYPE: Mice homozygous for a null allele have thymocytes with an enhanced susceptibility to FAS-induced apoptosis, and B cells that more susceptible to activation induced cell death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb10 C T 8: 124,688,791 (GRCm39) G495D probably damaging Het
Acap2 A T 16: 30,926,989 (GRCm39) Y509N probably damaging Het
Adcy9 T A 16: 4,129,395 (GRCm39) E497V probably damaging Het
Bcat2 T G 7: 45,225,410 (GRCm39) L56R probably damaging Het
Ccdc146 T C 5: 21,498,370 (GRCm39) M952V probably benign Het
Ccdc39 T C 3: 33,880,629 (GRCm39) K446R probably damaging Het
Cfap46 C T 7: 139,181,181 (GRCm39) V2607I probably benign Het
Clec18a T C 8: 111,808,270 (GRCm39) I54V possibly damaging Het
Coil A G 11: 88,873,125 (GRCm39) E455G possibly damaging Het
Copg1 A T 6: 87,866,989 (GRCm39) K75* probably null Het
Cyp2j12 G A 4: 96,003,903 (GRCm39) Q238* probably null Het
Eif3i T C 4: 129,487,178 (GRCm39) E229G probably damaging Het
Exoc2 T A 13: 31,070,259 (GRCm39) N411Y probably benign Het
Eya2 T A 2: 165,596,404 (GRCm39) M305K probably damaging Het
Fgg T A 3: 82,920,287 (GRCm39) D355E probably benign Het
Foxn1 A G 11: 78,249,611 (GRCm39) L638P probably damaging Het
Grid2ip A T 5: 143,371,770 (GRCm39) E664D possibly damaging Het
Il1rn A G 2: 24,235,582 (GRCm39) R21G probably damaging Het
Ilrun C T 17: 28,005,044 (GRCm39) probably null Het
Inpp4b G A 8: 82,617,382 (GRCm39) G220R probably benign Het
Irx6 A G 8: 93,404,881 (GRCm39) S250G possibly damaging Het
Lyst T C 13: 13,809,068 (GRCm39) I246T probably benign Het
Mcm3 G A 1: 20,882,896 (GRCm39) Q353* probably null Het
Mfhas1 A G 8: 36,058,207 (GRCm39) Y894C probably damaging Het
Mfsd13a T C 19: 46,360,492 (GRCm39) L348P probably damaging Het
Necab1 A G 4: 15,111,192 (GRCm39) probably null Het
Nectin3 A T 16: 46,284,205 (GRCm39) S160T possibly damaging Het
Npc2 A G 12: 84,807,658 (GRCm39) S67P probably damaging Het
Or5e1 T G 7: 108,354,114 (GRCm39) F17C probably damaging Het
Or5m9b G A 2: 85,905,164 (GRCm39) V27M probably benign Het
Pcnx3 A G 19: 5,727,210 (GRCm39) F1108L probably benign Het
Phf21a G A 2: 92,189,544 (GRCm39) S601N probably benign Het
Pold1 C T 7: 44,184,475 (GRCm39) V842I probably benign Het
Rabgap1 A G 2: 37,433,246 (GRCm39) probably null Het
Setd1a T A 7: 127,396,596 (GRCm39) probably benign Het
Sgo2a A T 1: 58,039,121 (GRCm39) probably null Het
Sult2a8 T A 7: 14,159,350 (GRCm39) K90* probably null Het
Tlr2 T C 3: 83,745,576 (GRCm39) D169G possibly damaging Het
Tmem95 A G 11: 69,767,655 (GRCm39) F153S probably benign Het
Tube1 G T 10: 39,010,204 (GRCm39) G10* probably null Het
Vmn2r10 T C 5: 109,143,890 (GRCm39) M687V probably benign Het
Zc3h8 G A 2: 128,777,289 (GRCm39) P117S probably benign Het
Zeb1 T A 18: 5,705,089 (GRCm39) D18E probably damaging Het
Other mutations in Faim
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00783:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00784:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00785:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00786:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00809:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00811:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00813:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00814:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00815:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00816:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00817:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL00821:Faim APN 9 98,874,218 (GRCm39) missense probably damaging 1.00
IGL01330:Faim APN 9 98,874,588 (GRCm39) missense probably damaging 1.00
IGL01925:Faim APN 9 98,872,972 (GRCm39) unclassified probably benign
IGL02703:Faim APN 9 98,874,254 (GRCm39) missense probably benign 0.09
R0638:Faim UTSW 9 98,874,149 (GRCm39) splice site probably benign
R5476:Faim UTSW 9 98,874,782 (GRCm39) missense probably damaging 1.00
R5901:Faim UTSW 9 98,874,195 (GRCm39) missense probably benign 0.01
R6250:Faim UTSW 9 98,874,176 (GRCm39) start codon destroyed probably benign 0.15
R7282:Faim UTSW 9 98,874,179 (GRCm39) missense probably benign
R8034:Faim UTSW 9 98,874,786 (GRCm39) missense possibly damaging 0.91
Predicted Primers PCR Primer
(F):5'- ATGACTACCCTGGGAAACCTGGAC -3'
(R):5'- GATATCACAATGGCCGGAAGGCTC -3'

Sequencing Primer
(F):5'- AGTACTGCCATTAGAACACTCTG -3'
(R):5'- GGTCTTTGACCTGTTCTCCA -3'
Posted On 2014-01-29