|Institutional Source||Beutler Lab|
|Gene Name||baculoviral IAP repeat-containing 7 (livin)|
|Synonyms||KIAP, Livin, ML-IAP|
|Is this an essential gene?||Probably non essential (E-score: 0.135)|
|Stock #||R7459 (G1)|
|Chromosomal Location||180929023-180934010 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to C at 180929357 bp|
|Amino Acid Change||Serine to Proline at position 71 (S71P)|
|Ref Sequence||ENSEMBL: ENSMUSP00000104503 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000108875]|
|Predicted Effect||possibly damaging
AA Change: S71P
PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
AA Change: S71P
|Coding Region Coverage||
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||
|Other mutations in Birc7||
(F):5'- AGAGCTGCTGTCTTTTCCATGG -3'
(R):5'- TGCCTGGAAGAGTGCTAAGTAG -3'
(F):5'- TCCATGGGGCCTGAGAGTAG -3'
(R):5'- AGATGGCCAGTCGTAGAA -3'