Pbrm1,Smim4 - SNV Details



 Gene Information 
Gene Name Pbrm1 , Smim4
Old Gene Names for Pbrm1 Pb1 , 2610016f04rik
Old Gene Names for Smim4 2010107h07rik
Gene Description polybromo 1 [Source:MGI Symbol;Acc:MGI:1923998],small itegral membrane protein 4 [Source:MGI Symbol;Acc:MGI:1913737]
MGI phenotype NO_PHENOTYPE,Homozygous null mice display embryonic lethality with hypoplastic cardiac ventricular chambers and malformation of the placenta.
Uniprot Name
CCDS Name
Gene GO
mitochondrion; integral component of membrane; biological_process; molecular_function
positive regulation of transcription
DNA-templated; chromatin binding; heart morphogenesis; vasculogenesis involved in coronary vascular morphogenesis; placenta development; cardiac vascular smooth muscle cell development; DNA binding; protein binding; negative regulation of cell proliferation; nucleus; chromatin modification; epicardium-derived cardiac endothelial cell differentiation; blood vessel remodeling; kinetochore; heart development; transcription
DNA-templated
Homolog in other species PBRM1,NO_HOMOLOG
Omim NO_OMIM,http://omim.org/entry/606083
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP, DC.LC.SK)
HIGH
HIGH,NO_IMMGEN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058351
Chromosome 14
Coordinate 31,088,922     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 44
Allele Frequency
T:R0.61
A:V0.39
Amino Acid Change S->C (Serine -> Cysteine)
Sample ID IGL00484
Median Base Quality 37.5
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 51 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Unknown

 Availability Details 
Availability Cryopreserved