Incidental Mutation 'IGL02093:Xiap'
ID 279517
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xiap
Ensembl Gene ENSMUSG00000025860
Gene Name X-linked inhibitor of apoptosis
Synonyms IAP3, Api3, 1110015C02Rik, ILP-1, Birc4, Aipa
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02093
Quality Score
Status
Chromosome X
Chromosomal Location 41148556-41198533 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 41188704 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000110747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026978] [ENSMUST00000055483] [ENSMUST00000115094] [ENSMUST00000115095]
AlphaFold Q60989
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 noncoding transcript
Transcript: ENSMUST00000145065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150635
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,160,396 (GRCm39) Y41F probably benign Het
Amigo1 T C 3: 108,095,214 (GRCm39) Y238H probably benign Het
Ankrd17 A G 5: 90,390,822 (GRCm39) S2283P possibly damaging Het
Apobec4 A G 1: 152,632,119 (GRCm39) H49R possibly damaging Het
Arhgap44 T C 11: 64,965,360 (GRCm39) K34R probably damaging Het
Arsg A G 11: 109,416,272 (GRCm39) Y173C possibly damaging Het
Arv1 C A 8: 125,457,617 (GRCm39) L56M probably damaging Het
B3glct A T 5: 149,656,150 (GRCm39) R194S probably benign Het
Ccdc39 T A 3: 33,886,717 (GRCm39) Y297F probably benign Het
Dnah8 A G 17: 30,936,854 (GRCm39) E1552G probably damaging Het
Dnajb9 T C 12: 44,253,987 (GRCm39) H140R probably damaging Het
Dock5 T G 14: 68,076,992 (GRCm39) probably benign Het
Egr2 G A 10: 67,375,854 (GRCm39) G92D probably damaging Het
Evi2a G A 11: 79,418,490 (GRCm39) S40L probably benign Het
Fshr A G 17: 89,309,317 (GRCm39) probably null Het
Glce G A 9: 61,977,821 (GRCm39) T21I probably damaging Het
Gucy2d C A 7: 98,092,755 (GRCm39) S44* probably null Het
Heatr5a T C 12: 51,962,858 (GRCm39) E1014G possibly damaging Het
Hnrnpll A T 17: 80,351,933 (GRCm39) H337Q probably benign Het
Jhy G T 9: 40,856,163 (GRCm39) probably null Het
Kat5 A T 19: 5,653,903 (GRCm39) M427K probably benign Het
Lama5 G A 2: 179,830,380 (GRCm39) P1876S probably damaging Het
Lamc3 C A 2: 31,777,667 (GRCm39) H104Q probably damaging Het
Lcn5 T C 2: 25,548,462 (GRCm39) Y84H probably damaging Het
Mageb18 T A X: 91,163,872 (GRCm39) K123N probably damaging Het
Mfhas1 T A 8: 36,056,498 (GRCm39) N324K probably damaging Het
Nagk T C 6: 83,776,352 (GRCm39) F189S probably damaging Het
Nbas T A 12: 13,610,963 (GRCm39) M2218K probably benign Het
Nuak2 C A 1: 132,259,850 (GRCm39) P543T probably benign Het
Or2ag17 C T 7: 106,390,030 (GRCm39) M59I probably benign Het
Or5bh3 C T X: 49,098,705 (GRCm39) M136I possibly damaging Het
Prl8a9 T C 13: 27,743,436 (GRCm39) Y123C probably damaging Het
Rapgef5 T C 12: 117,682,867 (GRCm39) F220S probably damaging Het
Rexo4 T C 2: 26,852,530 (GRCm39) D135G probably benign Het
Slc39a10 C T 1: 46,874,369 (GRCm39) R311Q probably damaging Het
Slfn10-ps A T 11: 82,923,016 (GRCm39) noncoding transcript Het
Tfrc A G 16: 32,449,012 (GRCm39) E717G probably benign Het
Tg T A 15: 66,564,223 (GRCm39) N1141K possibly damaging Het
Topors T C 4: 40,261,467 (GRCm39) S606G probably damaging Het
Usp11 A G X: 20,585,591 (GRCm39) D827G probably benign Het
Vmn2r1 A T 3: 64,012,130 (GRCm39) M664L probably benign Het
Vmn2r14 A T 5: 109,368,275 (GRCm39) M239K possibly damaging Het
Zfp2 G A 11: 50,791,831 (GRCm39) P71S probably benign Het
Zhx1 T A 15: 57,916,264 (GRCm39) T661S probably benign Het
Other mutations in Xiap
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01389:Xiap APN X 41,183,429 (GRCm39) missense probably damaging 1.00
IGL02015:Xiap APN X 41,185,487 (GRCm39) unclassified probably benign
R5022:Xiap UTSW X 41,183,342 (GRCm39) missense probably benign 0.34
R5023:Xiap UTSW X 41,183,342 (GRCm39) missense probably benign 0.34
R5057:Xiap UTSW X 41,183,342 (GRCm39) missense probably benign 0.34
Posted On 2015-04-16