Rgma - SNV Details



 Gene Information 
Gene Name Rgma
Old Gene Names for Rgma Bc059072
Gene Description RGM domain family, member A [Source:MGI Symbol;Acc:MGI:2679262]
Uniprot Name
CCDS Name
Gene GO
positive regulation of protein phosphorylation; BMP signaling pathway; protein binding; cell surface; neural tube closure; anchored to membrane; plasma membrane; coreceptor activity; regulation of BMP signaling pathway
Homolog in other species RGMA
Omim http://omim.org/entry/607362
Immgen Expression
MEDIAN(LOWER IN TGD.VG5+.ACT.IEL)
Gnf Expression
MEDIAN(HIGH IN PREOPTIC)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000070509
Chromosome 7
Coordinate 73,417,433     (Assembly: GRCm38)    
Ref Base C
Codon Change caC/caA
Var Base A
Zygosity Heterozygous
Read Depth 28
Allele Frequency
C:R0.50
A:V0.50
Amino Acid Position 255
Amino Acid Change H->Q (Histidine -> Glutamine)
Sample ID IGL02034
Median Base Quality 39
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 34 Other Mutations

 Predictions 
Polyphen Score 0.85
Polyphen Prediction Possibly damaging
Sift Score 0.57
Sift Prediction tolerated

 Protein domains 
ENSMUSP00000091870:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Repulsive guidance molecule, C-terminal RGM_C IPR009496 ENSMUSP00000091870 Pfam 225
426 Description available Search pathways

 Availability Details 
Availability