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; integral to membrane; adipose tissue development; protein binding; 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 36,974,311     (Assembly: GRCm38)    
Ref Base A
Codon Change Aac/Gac
Var Base G
Zygosity Heterozygous
Read Depth 69
Allele Frequency
A:R0.49
G:V0.51
Amino Acid Position 2376
Amino Acid Change N->D (Asparagine -> Aspartic acid)
Sample ID IGL01638
Median Base Quality 37
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 33 Other Mutations

 Predictions 
Polyphen Score 0.96
Polyphen Prediction Probably damaging
Sift Score 0.34
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved