Incidental Mutation 'IGL00816:Faim'
ID277986
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: 0.492) question?
Stock #IGL00816
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 A T 13: 81,397,203 D5654E probably benign Het
Alg6 A G 4: 99,742,361 S146G probably null Het
Anks1 T C 17: 28,059,393 probably null Het
Bcor T C X: 12,037,820 I1662V probably damaging Het
Bzw1 T C 1: 58,399,054 F98L probably damaging Het
Cdc14b A G 13: 64,205,403 V453A probably benign Het
Copg1 G T 6: 87,893,898 A228S possibly damaging Het
D1Pas1 A G 1: 186,969,412 I513V possibly damaging Het
Efemp1 G A 11: 28,926,223 V463M probably benign Het
Ep400 T A 5: 110,735,490 probably benign Het
Fgd3 A G 13: 49,264,786 probably benign Het
Furin C A 7: 80,392,567 G427W probably damaging Het
Glycam1 T G 15: 103,564,232 D25A probably damaging Het
Gpr119 A G X: 48,674,170 L30P probably damaging Het
Gria1 T A 11: 57,317,742 M752K possibly damaging Het
Mcph1 C T 8: 18,632,397 P517S possibly damaging Het
Mug1 T A 6: 121,882,638 Y1199N probably damaging Het
Myt1 A G 2: 181,807,515 D663G probably damaging Het
Ppp1r1c A T 2: 79,709,897 probably null Het
Rab1a C T 11: 20,224,727 T100M possibly damaging Het
Rfx6 A G 10: 51,678,405 K114R probably benign Het
Rmdn1 T C 4: 19,595,119 V177A probably benign Het
Setd5 T G 6: 113,111,414 L168V probably damaging Het
Slc25a10 A T 11: 120,495,150 probably benign Het
Slc38a7 A T 8: 95,844,120 I252N probably damaging Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Taar8c A T 10: 24,101,275 I213N probably damaging Het
Tagln3 A T 16: 45,724,193 C38* probably null Het
Tmcc2 C A 1: 132,380,698 A153S probably benign Het
Tuft1 A T 3: 94,615,831 I291N probably damaging Het
Vmn2r10 T A 5: 109,002,585 M198L possibly damaging Het
Vps13d T A 4: 145,155,994 M1004L probably benign Het
Wfdc3 T C 2: 164,743,025 probably benign Het
Wfikkn2 G A 11: 94,238,095 Q407* probably null Het
Zfp106 T C 2: 120,526,848 I1189V probably benign Het
Zic2 T A 14: 122,478,559 C364* probably null 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
IGL00784: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
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
R8034:Faim UTSW 9 98992733 missense possibly damaging 0.91
Posted On2015-04-16