4932438A13Rik - SNV Details



 Gene Information 
Gene Name 4932438a13rik
Old Gene Names for 4932438A13Rik B830039d19rik , D630029k19rik
Gene Description RIKEN cDNA 4932438A13 gene [Source:MGI Symbol;Acc:MGI:2444631]
Uniprot Name
CCDS Name
Gene GO
lipid metabolic process; lipid storage; spermatogenesis; adipose tissue development; protein binding; integral component of membrane; fat cell differentiation; nucleus localization; nucleus; regulation of cell growth; molecular_function
Homolog in other species KIAA1109
Immgen Expression
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
MEDIAN(LOW IN PROB.FRBC.FL, DC8+.TH, DC.LC.SK)
HIGH
HIGH
HIGH
HIGH
HIGH
HIGH
HIGH
HIGH
Gnf Expression
MEDIAN
MEDIAN(HIGH IN TESTIS)
LOW/MEDIAN
HIGH(LOWER IN TESTIS, FERTILIZEDEGG, OOCYTE, LIVER, EMB GROUP)
HIGH(LOWER IN FERTILIZED EGG, OOCYTE, PANCREAS, SPLEEN, BONE MARROW, THYROID)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000037270
Chromosome 3
Coordinate 37,002,635     (Assembly: GRCm38)    
Ref Base A
Var Base T
Zygosity Heterozygous
Read Depth 55
Allele Frequency
A:R0.36
T:V0.62
Amino Acid Change I->F (Isoleucine -> Phenylalanine)
Sample ID IGL03264
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 39 Other Mutations

 Predictions 
Polyphen Score 0.92
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Progeny Cryopreserved