Incidental Mutation 'IGL01329:Birc2'
ID 74428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Birc2
Ensembl Gene ENSMUSG00000057367
Gene Name baculoviral IAP repeat-containing 2
Synonyms cIAP1, Api1, HIAP1, cIAP-1, MIAP1, mcIAP1, MIHB, IAP1
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # IGL01329
Quality Score
Status
Chromosome 9
Chromosomal Location 7818228-7837065 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 7860733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 195 (Y195C)
Ref Sequence ENSEMBL: ENSMUSP00000111336 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000013949] [ENSMUST00000115672] [ENSMUST00000115673] [ENSMUST00000159323]
AlphaFold Q62210
Predicted Effect probably damaging
Transcript: ENSMUST00000013949
AA Change: Y195C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000013949
Gene: ENSMUSG00000032000
AA Change: Y195C

DomainStartEndE-ValueType
BIR 27 98 1.92e-34 SMART
low complexity region 132 145 N/A INTRINSIC
BIR 167 237 2.12e-36 SMART
BIR 253 324 1.5e-36 SMART
CARD 438 525 7.29e-4 SMART
RING 555 589 1.43e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000115672
AA Change: Y195C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111336
Gene: ENSMUSG00000032000
AA Change: Y195C

DomainStartEndE-ValueType
BIR 27 98 1.92e-34 SMART
low complexity region 132 145 N/A INTRINSIC
BIR 167 237 2.12e-36 SMART
BIR 253 324 1.5e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115673
SMART Domains Protein: ENSMUSP00000111337
Gene: ENSMUSG00000032000

DomainStartEndE-ValueType
BIR 27 98 1.92e-34 SMART
low complexity region 132 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000159323
SMART Domains Protein: ENSMUSP00000125652
Gene: ENSMUSG00000032000

DomainStartEndE-ValueType
BIR 27 98 1.92e-34 SMART
low complexity region 132 145 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000161642
SMART Domains Protein: ENSMUSP00000125512
Gene: ENSMUSG00000032000

DomainStartEndE-ValueType
SCOP:d1g73d_ 4 35 1e-6 SMART
PDB:3T6P|A 4 106 2e-39 PDB
low complexity region 107 125 N/A INTRINSIC
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 is a member of a family of proteins that inhibits apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. This encoded protein inhibits apoptosis induced by serum deprivation and menadione, a potent inducer of free radicals. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
PHENOTYPE: Homozygous null mice showed a modest reduction in the number of lymphocytes. Mice homozygous for a knock-in allele exhibit increased T cell poliferation and IFNG secretion in response to anti-CD3 stimulation. [provided by MGI curators]
Allele List at MGI

All alleles(4) : Targeted, knock-out(2) Gene trapped(2)

Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,944,166 (GRCm39) probably null Het
Ankib1 A T 5: 3,784,194 (GRCm39) probably benign Het
Cand2 T C 6: 115,759,755 (GRCm39) I142T probably benign Het
Cdh15 T C 8: 123,592,062 (GRCm39) probably benign Het
Ceacam5 G A 7: 17,479,534 (GRCm39) G217D probably damaging Het
Cfap54 T A 10: 92,917,385 (GRCm39) H25L unknown Het
Cfap95 A G 19: 23,630,100 (GRCm39) probably benign Het
Col22a1 A G 15: 71,778,889 (GRCm39) V266A probably benign Het
D3Ertd751e A G 3: 41,703,132 (GRCm39) D69G probably benign Het
Dnah3 T C 7: 119,622,164 (GRCm39) I1518V probably damaging Het
Entpd8 A G 2: 24,974,358 (GRCm39) K381R probably benign Het
Fli1 T A 9: 32,335,397 (GRCm39) K345I probably damaging Het
G6pd2 T C 5: 61,967,281 (GRCm39) V352A probably damaging Het
Gbp11 C T 5: 105,475,482 (GRCm39) probably null Het
Gm11992 A G 11: 9,018,383 (GRCm39) *292W probably null Het
Ifnar2 T A 16: 91,188,599 (GRCm39) probably benign Het
Impg1 T C 9: 80,230,111 (GRCm39) K661R probably benign Het
Inf2 G T 12: 112,578,290 (GRCm39) E651* probably null Het
Ints1 A G 5: 139,753,258 (GRCm39) probably benign Het
Iqcf4 T C 9: 106,447,832 (GRCm39) K26E probably benign Het
Map4k3 A G 17: 80,951,613 (GRCm39) V289A probably benign Het
Mis18bp1 T C 12: 65,205,215 (GRCm39) K319R possibly damaging Het
Nubpl T C 12: 52,352,638 (GRCm39) V291A probably damaging Het
Or4f56 A G 2: 111,703,295 (GRCm39) F302L probably benign Het
Or4k15c C T 14: 50,321,454 (GRCm39) R228H probably benign Het
Or8b57 A G 9: 40,003,324 (GRCm39) S313P possibly damaging Het
Or8k38 T C 2: 86,488,551 (GRCm39) N84D probably benign Het
Otof A G 5: 30,598,723 (GRCm39) S29P probably benign Het
Pcca A G 14: 122,927,545 (GRCm39) D436G possibly damaging Het
Rasef T A 4: 73,645,882 (GRCm39) T496S probably damaging Het
Saa2 A G 7: 46,402,896 (GRCm39) D49G probably benign Het
Scart1 T A 7: 139,804,552 (GRCm39) probably null Het
Scn2a A G 2: 65,547,852 (GRCm39) I1015V probably benign Het
Sim2 T C 16: 93,907,119 (GRCm39) Y154H possibly damaging Het
Spag17 A G 3: 100,002,865 (GRCm39) H1863R probably benign Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Svil A G 18: 5,064,501 (GRCm39) E1111G probably benign Het
Trabd2b T C 4: 114,266,322 (GRCm39) V112A probably damaging Het
Vmn1r205 T C 13: 22,776,273 (GRCm39) I276M probably benign Het
Vps13d A T 4: 144,882,776 (GRCm39) I939N possibly damaging Het
Zc3h11a T C 1: 133,553,600 (GRCm39) M515V probably benign Het
Zfp457 T C 13: 67,442,330 (GRCm39) T82A possibly damaging Het
Other mutations in Birc2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00909:Birc2 APN 9 7,833,666 (GRCm39) missense probably damaging 1.00
IGL00972:Birc2 APN 9 7,833,716 (GRCm39) missense probably benign 0.36
IGL02852:Birc2 APN 9 7,854,484 (GRCm39) missense probably damaging 0.99
IGL02888:Birc2 APN 9 7,819,559 (GRCm39) missense probably benign 0.22
IGL03135:Birc2 APN 9 7,849,722 (GRCm39) splice site probably benign
IGL03399:Birc2 APN 9 7,821,088 (GRCm39) missense probably damaging 1.00
1mM(1):Birc2 UTSW 9 7,819,409 (GRCm39) missense probably damaging 0.98
R0409:Birc2 UTSW 9 7,819,385 (GRCm39) missense possibly damaging 0.61
R0478:Birc2 UTSW 9 7,860,348 (GRCm39) missense probably damaging 1.00
R0905:Birc2 UTSW 9 7,851,052 (GRCm39) makesense probably null
R1617:Birc2 UTSW 9 7,826,952 (GRCm39) missense possibly damaging 0.66
R1864:Birc2 UTSW 9 7,819,518 (GRCm39) missense probably benign 0.06
R1934:Birc2 UTSW 9 7,854,500 (GRCm39) missense possibly damaging 0.89
R2005:Birc2 UTSW 9 7,860,342 (GRCm39) missense probably damaging 1.00
R2156:Birc2 UTSW 9 7,826,939 (GRCm39) missense probably damaging 1.00
R2519:Birc2 UTSW 9 7,821,180 (GRCm39) missense possibly damaging 0.46
R2867:Birc2 UTSW 9 7,834,478 (GRCm39) start codon destroyed probably null 0.08
R2867:Birc2 UTSW 9 7,834,478 (GRCm39) start codon destroyed probably null 0.08
R3019:Birc2 UTSW 9 7,857,390 (GRCm39) critical splice donor site probably null
R4028:Birc2 UTSW 9 7,819,352 (GRCm39) missense probably benign 0.01
R4169:Birc2 UTSW 9 7,849,684 (GRCm39) missense possibly damaging 0.78
R4243:Birc2 UTSW 9 7,834,386 (GRCm39) missense probably benign 0.00
R4250:Birc2 UTSW 9 7,818,936 (GRCm39) missense probably benign 0.00
R4584:Birc2 UTSW 9 7,833,675 (GRCm39) missense probably damaging 1.00
R4952:Birc2 UTSW 9 7,836,741 (GRCm39) missense probably damaging 0.99
R4964:Birc2 UTSW 9 7,860,553 (GRCm39) missense probably benign 0.01
R5017:Birc2 UTSW 9 7,818,886 (GRCm39) nonsense probably null
R5338:Birc2 UTSW 9 7,857,360 (GRCm39) missense probably benign 0.01
R5395:Birc2 UTSW 9 7,861,175 (GRCm39) missense probably damaging 1.00
R5877:Birc2 UTSW 9 7,849,347 (GRCm39) missense probably damaging 1.00
R5914:Birc2 UTSW 9 7,857,343 (GRCm39) makesense probably null
R6148:Birc2 UTSW 9 7,849,684 (GRCm39) missense possibly damaging 0.78
R6163:Birc2 UTSW 9 7,819,036 (GRCm39) missense probably benign 0.15
R6471:Birc2 UTSW 9 7,857,421 (GRCm39) missense probably benign 0.00
R6747:Birc2 UTSW 9 7,860,262 (GRCm39) critical splice donor site probably null
R6752:Birc2 UTSW 9 7,857,345 (GRCm39) missense probably benign 0.10
R6789:Birc2 UTSW 9 7,836,966 (GRCm39) intron probably benign
R6795:Birc2 UTSW 9 7,833,873 (GRCm39) missense possibly damaging 0.81
R6812:Birc2 UTSW 9 7,854,418 (GRCm39) missense probably damaging 0.99
R6941:Birc2 UTSW 9 7,819,469 (GRCm39) missense probably benign 0.00
R7105:Birc2 UTSW 9 7,819,442 (GRCm39) missense probably damaging 1.00
R7135:Birc2 UTSW 9 7,818,762 (GRCm39) missense probably damaging 1.00
R7233:Birc2 UTSW 9 7,827,009 (GRCm39) missense probably damaging 1.00
R7460:Birc2 UTSW 9 7,818,762 (GRCm39) missense probably damaging 1.00
R7517:Birc2 UTSW 9 7,819,424 (GRCm39) missense probably benign 0.00
R8078:Birc2 UTSW 9 7,858,742 (GRCm39) missense probably damaging 0.98
R8101:Birc2 UTSW 9 7,861,005 (GRCm39) missense probably benign 0.00
R8146:Birc2 UTSW 9 7,818,797 (GRCm39) missense probably damaging 1.00
R8314:Birc2 UTSW 9 7,872,942 (GRCm39) intron probably benign
R8371:Birc2 UTSW 9 7,849,427 (GRCm39) missense probably damaging 1.00
R8396:Birc2 UTSW 9 7,834,301 (GRCm39) missense probably benign 0.05
R9009:Birc2 UTSW 9 7,833,937 (GRCm39) missense probably benign
R9497:Birc2 UTSW 9 7,861,028 (GRCm39) nonsense probably null
Posted On 2013-10-07