Rln1 - SNV Details



 Gene Information 
Gene Name Rln1
Gene Description relaxin 1 [Source:MGI Symbol;Acc:MGI:97931]
MGI phenotype Inactivation of this locus is compatible with fertility but not normal mammary gland development. Postpartum, homozygous mutant females exhibit slight nipples that are insufficient for suckling.
Uniprot Name
CCDS Name
Gene GO
prostate gland growth; hormone activity; adenylate cyclase-modulating G-protein coupled receptor signaling pathway; extracellular region; receptor binding; developmental growth; regulation of nitric oxide mediated signal transduction
Homolog in other species RLN1
Omim http://omim.org/entry/179730
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.DPSM.TH, T.8EFF.SP.OT1.D6.VSVOVA, T.8MEM.LN,TGD.SP,T.4FP3+25+.SP,T.4NVE.PP)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000039097
Chromosome 19
Coordinate 29,332,014     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 12
Allele Frequency
C:R0.33
T:V0.67
Amino Acid Change V->I (Valine -> Isoleucine)
Sample ID IGL00515
Median Base Quality 37
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 28 Other Mutations

 Predictions 
Polyphen Score 0.93
Polyphen Prediction Possibly damaging

 Availability Details 
Availability