Birc6 - SNV Details



 Gene Information 
Gene Name Birc6
Old Gene Names for Birc6 A430040a19rik , A430032g04rik , Aa501170 , Bruce , D630005a10rik
Gene Description baculoviral IAP repeat-containing 6 [Source:MGI Symbol;Acc:MGI:1276108]
MGI phenotype Homozygous mice exhibit perinatal lethality and exhibit placental defects.
Uniprot Name
CCDS Name
Gene GO
spongiotrophoblast layer development; cell division; trans-Golgi network; membrane; apoptotic process; mitosis; negative regulation of apoptotic process; placenta development; midbody; protein transport; intracellular; cysteine-type endopeptidase inhibitor activity; acid-amino acid ligase activity; cellular protein modification process; ubiquitin-protein ligase activity; regulation of cytokinesis; protein binding; protein ubiquitination; labyrinthine layer development; endosome; regulation of cell proliferation; microtubule organizing center; spindle pole; positive regulation of cell proliferation; Golgi apparatus
Homolog in other species BIRC6
Omim http://omim.org/entry/605638
Immgen Expression
HIGH
Gnf Expression
LOW
MEDIAN
HIGH
MEDIAN/HIGH(HIGH IN PANCREAS, DORSALSTRIATUM, LIVER, EMBRYODAY6.5, SPLEEN, IMM.G2, THYROID)
HIGH
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024073
Chromosome 17
Coordinate 74,660,611     (Assembly: GRCm38)    
Ref Base T
Codon Change cTc/cAc
Var Base A
Zygosity Heterozygous
Read Depth 23
Allele Frequency
T:R0.57
A:V0.44
Amino Acid Position 4170
Amino Acid Change L->H (Leucine -> Histidine)
Sample ID IGL01657
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Sift Score 0
Sift Prediction deleterious
Druggable Yes, View known drug interactions

 Availability Details 
Availability Progeny Cryopreserved