Hmmr - SNV Details



 Gene Information 
Gene Name Hmmr
Old Gene Names for Hmmr Rhamm , Aa386826
Gene Description hyaluronan mediated motility receptor (RHAMM) [Source:MGI Symbol;Acc:MGI:104667]
MGI phenotype Mice homozygous for mutations of this gene are viable and show no gross anatomical abnormalities, however fertility is impaired. It has also been shown that mutant mice are less susceptible to the formation of aggressive fibromatosis.
Uniprot Name
CCDS Name
Gene GO
phosphorelay signal transduction system; membrane; cytoplasm; hyaluronic acid binding; cell surface; signal transducer activity
Homolog in other species HMMR
Omim http://omim.org/entry/600936
Immgen Expression
MEDIAN(HIGH IN B.GC.SP, PROB.FRBC.FL, PREB.FRD.FL, DC8+.TH, TGD.VG5+.ACT.IEL, NK.MCMV1.SP, T.8EFF.SP.OT1.D6.VSVOVA, TGD.TH, T.4SP24-.TH, T.8SP24-.TH, DC.LC.SK)
Gnf Expression
MEDIAN
MEDIAN(HIGH IN TESTIS, FERTILIZEDEGG, OOCYTE, IMM GROUP, OSTEO GROUP, EMB GROUP)
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000020330
Chromosome 11
Coordinate 40,715,415     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 24
Allele Frequency
A:R0.33
G:V0.67
Amino Acid Change C->R (Cysteine -> Arginine)
Sample ID IGL03327
Median Base Quality 41
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved