Incidental Mutation 'IGL00784:Faim'
ID277951
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faim
Ensembl Gene ENSMUSG00000032463
Gene NameFas apoptotic inhibitory molecule
SynonymsFaim-L, Faim-S
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.297) question?
Stock #IGL00784
Quality Score
Status
Chromosome9
Chromosomal Location98986373-99002021 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 98992165 bp
ZygosityHeterozygous
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]
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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 13,849,263 probably benign Het
Arhgef33 A T 17: 80,368,230 I403L probably benign Het
Cd4 A G 6: 124,872,989 V121A possibly damaging Het
Cep89 T A 7: 35,405,707 V132E possibly damaging Het
Dock10 A G 1: 80,572,449 probably benign Het
Hnrnpl T C 7: 28,820,642 F482L probably benign Het
Ift122 T A 6: 115,905,902 H659Q probably benign Het
Jhy T C 9: 40,922,752 T291A probably benign Het
Nbeal2 T C 9: 110,629,763 probably benign Het
Ncaph2 A G 15: 89,370,040 D367G probably damaging Het
Nmt2 T A 2: 3,314,809 F279I probably damaging Het
Oas2 A G 5: 120,738,363 F15S probably damaging Het
Pold2 T C 11: 5,872,412 E419G probably benign Het
Scn7a T G 2: 66,692,564 E932A probably damaging Het
Stradb T C 1: 58,988,529 S73P probably damaging Het
Syce1l A G 8: 113,652,862 D120G probably benign Het
Unc80 G A 1: 66,608,437 G1512E probably benign Het
Vps13b G T 15: 35,846,900 D2610Y probably damaging Het
Other mutations in Faim
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00772:Faim APN 9 98992165 missense probably damaging 1.00
IGL00783:Faim APN 9 98992165 missense probably damaging 1.00
IGL00785:Faim APN 9 98992165 missense probably damaging 1.00
IGL00786:Faim APN 9 98992165 missense probably damaging 1.00
IGL00809:Faim APN 9 98992165 missense probably damaging 1.00
IGL00811:Faim APN 9 98992165 missense probably damaging 1.00
IGL00813:Faim APN 9 98992165 missense probably damaging 1.00
IGL00814:Faim APN 9 98992165 missense probably damaging 1.00
IGL00815:Faim APN 9 98992165 missense probably damaging 1.00
IGL00816:Faim APN 9 98992165 missense probably damaging 1.00
IGL00817:Faim APN 9 98992165 missense probably damaging 1.00
IGL00821:Faim APN 9 98992165 missense probably damaging 1.00
IGL01330:Faim APN 9 98992535 missense probably damaging 1.00
IGL01925:Faim APN 9 98990919 unclassified probably benign
IGL02703:Faim APN 9 98992201 missense probably benign 0.09
R0638:Faim UTSW 9 98992096 splice site probably benign
R1251:Faim UTSW 9 98992634 missense probably damaging 0.99
R5476:Faim UTSW 9 98992729 missense probably damaging 1.00
R5901:Faim UTSW 9 98992142 missense probably benign 0.01
R6250:Faim UTSW 9 98992123 start codon destroyed probably benign 0.15
R7282:Faim UTSW 9 98992126 missense probably benign
Posted On2015-04-16