Myo1b - SNV Details



 Gene Information 
Gene Name Myo1b
Old Gene Names for Myo1b Aa406997
Gene Description myosin IB [Source:MGI Symbol;Acc:MGI:107752]
Uniprot Name
CCDS Name
Gene GO
motor activity; cytoplasm; brush border; myosin complex; protein binding; microfilament motor activity; actin filament-based movement; calmodulin binding; actin filament bundle assembly; filopodium; phosphatidylinositol-4
5-bisphosphate binding; ATP binding; plasma membrane; actin binding; phosphatidylinositol-3
4
5-trisphosphate binding; cell periphery
Homolog in other species MYO1B
Omim http://omim.org/entry/606537
Immgen Expression
LOW(HIGH IN DC.LC.SK)
Gnf Expression
MEDIAN(HIGH IN M1)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000018417
Chromosome 1
Coordinate 51,784,531     (Assembly: GRCm38)    
Ref Base A
Codon Change tTc/tCc
Var Base G
Zygosity Heterozygous
Read Depth 63
Allele Frequency
A:R0.54
G:V0.46
Amino Acid Position 399
Amino Acid Change F->S (Phenylalanine -> Serine)
Sample ID IGL01550
Median Base Quality 41
Backgrounds Balb/c:C57BL/6
Source Walter and Eliza Hall Institute (WEHI-G1)
Other variants in this mouse 29 Other Mutations

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

 Protein domains 
ENSMUSP00000040447:
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
Myosin head, motor domain Myosin_head_motor_dom IPR001609 ENSMUSP00000040447 Prints 382
410 Description available Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000040447 Superfamily 15
758 Description available Search pathways
Myosin head, motor domain Myosin_head_motor_dom IPR001609 ENSMUSP00000040447 Pfam 18
688 Description available Search pathways
Myosin head, motor domain Myosin_head_motor_dom IPR001609 ENSMUSP00000040447 Smart 9
702 Description available Search pathways

 Availability Details 
Availability Cryopreserved