1700001J03Rik - SNV Details



 Gene Information 
Gene Name 1700001j03rik
Gene Description RIKEN cDNA 1700001J03 gene [Source:MGI Symbol;Acc:MGI:1916532]
Uniprot Name
CCDS Name
Gene GO
regulation of small GTPase mediated signal transduction; intracellular; small GTPase mediated signal transduction; guanyl-nucleotide exchange factor activity; cellular_component; biological_process; molecular_function
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
LOW(HIGH IN TESTIS)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000095040
Chromosome 5
Coordinate 146,183,548     (Assembly: GRCm38)    
Ref Base T
Codon Change tAc/tGc
Var Base C
Zygosity Heterozygous
Read Depth 80
Allele Frequency
T:R0.50
C:V0.50
Amino Acid Position 160
Amino Acid Change Y->C (Tyrosine -> Cysteine)
Sample ID IGL02022
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Progeny Cryopreserved