Myo5c - SNV Details



 Gene Information 
Gene Name Myo5c
Old Gene Names for Myo5c 9130003o20rik , Bb085560
Gene Description myosin VC [Source:MGI Symbol;Acc:MGI:2442485]
Uniprot Name
CCDS Name
Gene GO
motor activity; myosin complex; protein binding; ATP binding; molecular_function
Homolog in other species MYO5C
Omim http://omim.org/entry/610022
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
MEDIAN(HIGH IN KIDNEY, LIVER, IMM GROUP, OSTEO GROUP, PROSTATE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000033590
Chromosome 9
Coordinate 75,263,042     (Assembly: GRCm38)    
Ref Base A
Codon Change Ata/Gta
Var Base G
Zygosity Heterozygous
Read Depth 50
Allele Frequency
A:R0.46
G:V0.54
Amino Acid Position 485
Amino Acid Change I->V (Isoleucine -> Valine)
Sample ID IGL01503
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 40 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0.01
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000042229:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000042229 Superfamily 13
799 Description available Search pathways
Myosin head, motor domain Myosin_head_motor_dom IPR001609 ENSMUSP00000042229 Pfam 70
741 Description available Search pathways
Myosin head, motor domain Myosin_head_motor_dom IPR001609 ENSMUSP00000042229 Smart 61
754 Description available Search pathways

 Availability Details 
Availability Progeny Cryopreserved