|Institutional Source||Beutler Lab|
|Gene Name||baculoviral IAP repeat-containing 3|
|Synonyms||Api2, cIAP2, cIAP-2, HIAP2, IAP2, MIAP2, MIHC, RNF49|
|Is this an essential gene?||Possibly essential (E-score: 0.511)|
|Stock #||R4169 (G1)|
|Chromosomal Location||7848699-7873186 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 7849683 bp|
|Amino Acid Change||Aspartic acid to Valine at position 535 (D535V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000013949 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000013949]|
|Predicted Effect||possibly damaging
AA Change: D535V
PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
AA Change: D535V
|Predicted Effect||probably benign
|Meta Mutation Damage Score||0.0656|
|Coding Region Coverage||
|Validation Efficiency||98% (48/49)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the IAP family of proteins that inhibit apoptosis by binding to tumor necrosis factor receptor-associated factors TRAF1 and TRAF2, probably by interfering with activation of ICE-like proteases. The encoded protein inhibits apoptosis induced by serum deprivation but does not affect apoptosis resulting from exposure to menadione, a potent inducer of free radicals. It contains 3 baculovirus IAP repeats and a ring finger domain. Transcript variants encoding the same isoform have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for disruptions in this gene have a reduced susceptibility to endotoxic shock. Mice homozygous for a knock-in allele exhibit increased B cell survival and proliferation, lymph node hyperplasia, lymphocytic infiltrates in the lungs, and enlarged gut-associated lympoid tissue. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Birc3||
(F):5'- CGCCTCCAGTTTCCAAGCAC -3'
(R):5'- CGTGCACATGAAATAAATACAGTTGC -3'
(F):5'- ACTGGTCCCACGGCATATGATG -3'
(R):5'- CTACAATCACAGTATCCAGGAGGTTG -3'