Incidental Mutation 'IGL02092:Birc7'
ID 279459
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Birc7
Ensembl Gene ENSMUSG00000038840
Gene Name baculoviral IAP repeat-containing 7
Synonyms ML-IAP, Livin, KIAP
Accession Numbers
Essential gene? Probably non essential (E-score: 0.103) question?
Stock # IGL02092
Quality Score
Status
Chromosome 2
Chromosomal Location 180570816-180575803 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 180574979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 238 (R238S)
Ref Sequence ENSEMBL: ENSMUSP00000104503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103053] [ENSMUST00000108873] [ENSMUST00000108875] [ENSMUST00000148905] [ENSMUST00000151494]
AlphaFold A2AWP0
Predicted Effect probably benign
Transcript: ENSMUST00000103053
SMART Domains Protein: ENSMUSP00000099342
Gene: ENSMUSG00000027574

DomainStartEndE-ValueType
Pfam:NKAIN 1 206 4.3e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108873
SMART Domains Protein: ENSMUSP00000104501
Gene: ENSMUSG00000027574

DomainStartEndE-ValueType
Pfam:NKAIN 1 180 2.9e-90 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108875
AA Change: R238S

PolyPhen 2 Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000104503
Gene: ENSMUSG00000038840
AA Change: R238S

DomainStartEndE-ValueType
BIR 91 162 1.41e-32 SMART
low complexity region 227 238 N/A INTRINSIC
RING 239 272 1.65e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137859
Predicted Effect probably benign
Transcript: ENSMUST00000139929
SMART Domains Protein: ENSMUSP00000116965
Gene: ENSMUSG00000027574

DomainStartEndE-ValueType
Pfam:NKAIN 15 144 2.3e-45 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148905
SMART Domains Protein: ENSMUSP00000119925
Gene: ENSMUSG00000027574

DomainStartEndE-ValueType
Pfam:NKAIN 1 66 1.4e-36 PFAM
Pfam:NKAIN 64 140 8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000151494
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the inhibitor of apoptosis protein (IAP) family, and contains a single copy of a baculovirus IAP repeat (BIR) as well as a RING-type zinc finger domain. The BIR domain is essential for inhibitory activity and interacts with caspases, while the RING finger domain sometimes enhances antiapoptotic activity but does not inhibit apoptosis alone. Elevated levels of the encoded protein may be associated with cancer progression and play a role in chemotherapy sensitivity. Alternative splicing results in multiple transcript variants [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal retinal morphology and function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010H22Rik T A 5: 98,714,627 (GRCm39) probably benign Het
Cdc42bpg C A 19: 6,366,856 (GRCm39) probably benign Het
Ces3a T C 8: 105,776,962 (GRCm39) probably benign Het
Cntnap2 T C 6: 46,211,137 (GRCm39) F517S probably damaging Het
Cracr2b A G 7: 141,044,869 (GRCm39) E201G probably damaging Het
Cyth3 T C 5: 143,693,140 (GRCm39) probably benign Het
Exoc2 A T 13: 31,059,260 (GRCm39) N611K probably benign Het
Fign A T 2: 63,810,927 (GRCm39) N114K possibly damaging Het
Gabrb3 A G 7: 57,415,334 (GRCm39) T135A probably damaging Het
Htra3 T C 5: 35,828,416 (GRCm39) K155E probably damaging Het
Inpp5f T C 7: 128,286,948 (GRCm39) L609S probably damaging Het
Kcp C A 6: 29,489,031 (GRCm39) probably null Het
Map4k4 A G 1: 40,025,943 (GRCm39) K311R probably benign Het
Map4k4 A G 1: 40,063,508 (GRCm39) K1228E probably damaging Het
Muc20 G A 16: 32,614,642 (GRCm39) S245F probably damaging Het
Or10ak8 A G 4: 118,774,187 (GRCm39) L159S possibly damaging Het
Or7g33 T A 9: 19,449,046 (GRCm39) Y60F probably damaging Het
Or8b36 T G 9: 37,937,917 (GRCm39) S272A possibly damaging Het
Pi4ka A G 16: 17,136,360 (GRCm39) M892T probably benign Het
Ptpn22 A G 3: 103,784,637 (GRCm39) T234A probably damaging Het
Sema4g G A 19: 44,981,078 (GRCm39) probably null Het
Slc35a3 A G 3: 116,474,781 (GRCm39) S204P probably damaging Het
Speer4f2 C T 5: 17,581,627 (GRCm39) Q190* probably null Het
Szt2 A G 4: 118,220,529 (GRCm39) probably benign Het
Tacr1 T C 6: 82,380,900 (GRCm39) Y104H probably damaging Het
Trim23 A G 13: 104,324,120 (GRCm39) E173G probably benign Het
Trpm6 T C 19: 18,749,695 (GRCm39) I8T possibly damaging Het
Trpv1 T A 11: 73,136,905 (GRCm39) probably benign Het
Ufsp2 T C 8: 46,448,701 (GRCm39) probably null Het
Wwc2 T C 8: 48,317,570 (GRCm39) D669G unknown Het
Zfp940 T C 7: 29,545,626 (GRCm39) T94A probably benign Het
Zfp947 T G 17: 22,366,477 (GRCm39) D17A probably damaging Het
Other mutations in Birc7
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4514001:Birc7 UTSW 2 180,573,099 (GRCm39) missense possibly damaging 0.96
R0427:Birc7 UTSW 2 180,571,307 (GRCm39) critical splice donor site probably null
R0626:Birc7 UTSW 2 180,573,098 (GRCm39) missense probably benign 0.01
R1597:Birc7 UTSW 2 180,570,974 (GRCm39) missense possibly damaging 0.83
R2115:Birc7 UTSW 2 180,572,642 (GRCm39) missense possibly damaging 0.94
R5557:Birc7 UTSW 2 180,574,772 (GRCm39) missense probably benign 0.00
R5594:Birc7 UTSW 2 180,575,129 (GRCm39) critical splice donor site probably null
R6325:Birc7 UTSW 2 180,571,243 (GRCm39) missense probably benign 0.00
R7459:Birc7 UTSW 2 180,571,150 (GRCm39) missense possibly damaging 0.74
R7947:Birc7 UTSW 2 180,575,103 (GRCm39) missense probably damaging 0.99
R8886:Birc7 UTSW 2 180,574,786 (GRCm39) unclassified probably benign
Posted On 2015-04-16