Dync2h1 - SNV Details

 Human Rare Diseases 
Short rib-polydactyly syndrome, Majewski type
Short rib-polydactyly syndrome, Verma-Naumoff type
Jeune syndrome

 Gene Information 
Gene Name Dync2h1
Old Gene Names for Dync2h1 Ai448217 , Dnchc2 , 4432416o06rik , D030010h02rik , D330044f14rik
Gene Description dynein cytoplasmic 2 heavy chain 1 [Source:MGI Symbol;Acc:MGI:107736]
MGI phenotype Mice homozygous for a gene trap allele exhibit embryonic lethality at E12.5 with altered heart looping. Mice homozygous for one ENU-induced mutations exhibit embryonic lethality and altered left-right axis patterning.
Uniprot Name
Gene GO
ATPase activity; microtubule-based movement; dorsal/ventral pattern formation; Golgi organization; microtubule; motile primary cilium; microtubule motor activity; protein processing; cilium assembly; nucleoside-triphosphatase activity; cilium morphogenesis; embryonic limb morphogenesis; apical part of cell; determination of left/right symmetry; nucleotide binding; ATP binding; forebrain development; plasma membrane; cilium axoneme; dynein complex; asymmetric protein localization; Golgi apparatus
Homolog in other species DYNC2H1
Omim http://omim.org/entry/603297
Immgen Expression
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000047193
Chromosome 9
Coordinate 7,142,246     (Assembly: GRCm38)    
Ref Base A
Codon Change cTg/cCg
Var Base G
Zygosity Heterozygous
Read Depth 73
Allele Frequency
Amino Acid Position 1233
Amino Acid Change L->P (Leucine -> Proline)
Sample ID IGL02342
Median Base Quality 39
Backgrounds C57BL/6j
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 54 Other Mutations

Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved