Incidental Mutation 'IGL00821:Faim'
ID 277993
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faim
Ensembl Gene ENSMUSG00000032463
Gene Name Fas apoptotic inhibitory molecule
Synonyms Faim-L, Faim-S
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.352) question?
Stock # IGL00821
Quality Score
Status
Chromosome 9
Chromosomal Location 98868426-98884074 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 98874218 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Arginine at position 15 (G15R)
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: G15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035038
Gene: ENSMUSG00000032463
AA Change: G15R

DomainStartEndE-ValueType
Pfam:FAIM1 1 177 3e-98 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112911
AA Change: G37R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108532
Gene: ENSMUSG00000032463
AA Change: G37R

DomainStartEndE-ValueType
Pfam:FAIM1 25 197 9.8e-90 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000185472
AA Change: G15R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000140627
Gene: ENSMUSG00000032463
AA Change: G15R

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
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cad T C 5: 31,218,828 (GRCm39) Y550H probably damaging Het
Cep350 A G 1: 155,737,950 (GRCm39) V2631A probably benign Het
Cpa2 A G 6: 30,564,411 (GRCm39) D414G probably benign Het
Dhx38 T C 8: 110,282,286 (GRCm39) I714V probably benign Het
Dis3 T C 14: 99,328,922 (GRCm39) I277V probably benign Het
Espl1 T C 15: 102,208,248 (GRCm39) L418P probably damaging Het
F7 A G 8: 13,078,802 (GRCm39) T78A probably benign Het
Golga3 C A 5: 110,352,799 (GRCm39) H897N possibly damaging Het
Itgae T A 11: 73,013,974 (GRCm39) D724E probably damaging Het
Klb A T 5: 65,529,492 (GRCm39) Y340F probably damaging Het
Kmt2b A T 7: 30,270,038 (GRCm39) L2436Q probably damaging Het
Krt17 A G 11: 100,151,457 (GRCm39) L112P probably damaging Het
Lrp2 T A 2: 69,289,860 (GRCm39) N3660Y probably damaging Het
Mia2 T C 12: 59,217,106 (GRCm39) probably null Het
Myh2 C T 11: 67,088,223 (GRCm39) probably benign Het
Nr2f1 A G 13: 78,346,233 (GRCm39) probably benign Het
Odf2l T A 3: 144,856,748 (GRCm39) S568T probably damaging Het
Parl G A 16: 20,116,958 (GRCm39) P80S probably damaging Het
Ppfibp2 T G 7: 107,329,083 (GRCm39) F531V probably damaging Het
Prpf40b A G 15: 99,214,382 (GRCm39) E854G probably benign Het
Rere A G 4: 150,703,920 (GRCm39) K1551E probably damaging Het
Sacm1l A T 9: 123,399,614 (GRCm39) Q302L possibly damaging Het
Slc41a2 A G 10: 83,149,394 (GRCm39) probably benign Het
Smchd1 T C 17: 71,705,618 (GRCm39) T994A possibly damaging Het
Ubxn7 G A 16: 32,188,216 (GRCm39) D125N probably damaging Het
Zfp667 A G 7: 6,308,396 (GRCm39) N355D possibly damaging Het
Zfp839 T C 12: 110,831,441 (GRCm39) probably null Het
Zfpm2 T A 15: 40,966,783 (GRCm39) N957K 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
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
R1251:Faim UTSW 9 98,874,687 (GRCm39) missense probably damaging 0.99
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
Posted On 2015-04-16