Incidental Mutation 'IGL02015:Xiap'
ID183721
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xiap
Ensembl Gene ENSMUSG00000025860
Gene NameX-linked inhibitor of apoptosis
SynonymsIAP3, 1110015C02Rik, Aipa, ILP-1, Birc4, Api3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02015
Quality Score
Status
ChromosomeX
Chromosomal Location42059679-42109656 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 42096610 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153528 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026978] [ENSMUST00000055483] [ENSMUST00000115094] [ENSMUST00000115095] [ENSMUST00000126375] [ENSMUST00000224454]
Predicted Effect probably benign
Transcript: ENSMUST00000026978
SMART Domains Protein: ENSMUSP00000026978
Gene: ENSMUSG00000025860

DomainStartEndE-ValueType
BIR 24 95 3.67e-31 SMART
BIR 161 232 7.44e-41 SMART
BIR 262 331 6.06e-32 SMART
PDB:2KNA|A 351 436 5e-41 PDB
low complexity region 437 446 N/A INTRINSIC
RING 449 483 4.05e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000055483
SMART Domains Protein: ENSMUSP00000061074
Gene: ENSMUSG00000025860

DomainStartEndE-ValueType
BIR 24 95 3.67e-31 SMART
BIR 161 232 7.44e-41 SMART
BIR 262 331 6.06e-32 SMART
PDB:2KNA|A 351 436 5e-41 PDB
low complexity region 437 446 N/A INTRINSIC
RING 449 483 4.05e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115094
SMART Domains Protein: ENSMUSP00000110746
Gene: ENSMUSG00000025860

DomainStartEndE-ValueType
BIR 24 95 3.67e-31 SMART
BIR 161 232 7.44e-41 SMART
BIR 262 331 6.06e-32 SMART
PDB:2KNA|A 351 436 5e-41 PDB
low complexity region 437 446 N/A INTRINSIC
RING 449 483 4.05e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000115095
SMART Domains Protein: ENSMUSP00000110747
Gene: ENSMUSG00000025860

DomainStartEndE-ValueType
BIR 24 95 3.67e-31 SMART
BIR 161 232 7.44e-41 SMART
BIR 262 331 6.06e-32 SMART
PDB:2KNA|A 351 436 5e-41 PDB
low complexity region 437 446 N/A INTRINSIC
RING 449 483 4.05e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000126375
SMART Domains Protein: ENSMUSP00000121482
Gene: ENSMUSG00000025860

DomainStartEndE-ValueType
PDB:2POI|A 10 53 3e-20 PDB
SCOP:d1jd5a_ 22 52 8e-7 SMART
Blast:BIR 24 53 4e-13 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150635
Predicted Effect probably benign
Transcript: ENSMUST00000224454
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the inhibitor of apoptosis (IAP) family of proteins. While first identified for its role in blocking apoptosis, this protein modulates many other signaling processes including nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB) pathways and inflammatory responses. This protein blocks apoptosis by binding and inhibiting target caspases after they have been activated. Binding occurs to some, but not all, caspases. This protein has several conserved regions, including baculoviral IAP repeat (BIR) motifs and a RING finger E3 ligase domain. In humans, mutations in this gene are linked to immunodeficiency in X-linked lymphoproliferative syndrome type-2 (XLP-2). A pseudogene of this gene is found on chromosome 7. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2014]
PHENOTYPE: Homozygous null mutants are indistinguishable from normal littermates, but increased levels of protein from other Birc gene family members suggest a compensatory mechanism in the absence of the Birc4 gene's product. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcl9l C A 9: 44,508,801 probably null Het
C1qtnf12 A G 4: 155,962,744 probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
D430041D05Rik A G 2: 104,230,404 Y1382H probably damaging Het
Fut1 A T 7: 45,618,975 M118L probably damaging Het
Fzd5 A T 1: 64,736,342 C87S probably damaging Het
Gmcl1 A G 6: 86,707,457 V361A possibly damaging Het
Inpp4a T G 1: 37,389,712 F700V probably damaging Het
Klk1b21 A T 7: 44,104,358 Q22L probably benign Het
Lrp2 T A 2: 69,527,578 Q369L probably benign Het
Mtor C T 4: 148,540,113 Q2117* probably null Het
Naip2 A T 13: 100,161,607 S640R possibly damaging Het
Nt5e T C 9: 88,367,237 I408T probably damaging Het
Olfr509 T A 7: 108,646,013 N188Y probably damaging Het
Olfr572 G A 7: 102,928,192 R188H probably benign Het
Olfr924 T C 9: 38,848,794 S227P probably damaging Het
Plxna1 A G 6: 89,342,451 L590P probably damaging Het
Ppp1r35 T C 5: 137,780,031 probably benign Het
Prmt2 G A 10: 76,226,255 Q39* probably null Het
Ptprg A T 14: 12,237,782 N1413I possibly damaging Het
Ranbp10 C A 8: 105,779,990 G233C probably damaging Het
Rapgef2 A G 3: 79,092,064 probably benign Het
Rilpl2 T C 5: 124,469,813 T115A probably benign Het
Scaf4 T C 16: 90,258,846 S108G unknown Het
Scn10a C T 9: 119,664,951 V430M probably benign Het
Sf3b3 T C 8: 110,816,290 E845G possibly damaging Het
Skint2 C T 4: 112,624,128 R63* probably null Het
Slc35b4 A T 6: 34,170,548 V35D probably damaging Het
Slc6a3 A T 13: 73,544,714 Y151F possibly damaging Het
Susd1 G A 4: 59,315,745 T689I possibly damaging Het
Tbx21 T C 11: 97,098,914 D484G probably benign Het
Tln2 C T 9: 67,361,439 probably benign Het
Traf3 A G 12: 111,252,740 N242S probably benign Het
Zcchc6 A G 13: 59,789,258 Y790H probably damaging Het
Other mutations in Xiap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Xiap APN X 42094552 missense probably damaging 1.00
IGL02093:Xiap APN X 42099827 splice site probably benign
R5022:Xiap UTSW X 42094465 missense probably benign 0.34
R5023:Xiap UTSW X 42094465 missense probably benign 0.34
R5057:Xiap UTSW X 42094465 missense probably benign 0.34
Posted On2014-05-07