Mdn1 - SNV Details



 Gene Information 
Gene Name Mdn1
Old Gene Names for Mdn1 D4abb1e , 4833432b22rik , Aa958993 , Gm135
Gene Description midasin homolog (yeast) [Source:MGI Symbol;Acc:MGI:1926159]
Uniprot Name
CCDS Name
Gene GO
ATPase activity; nucleoside-triphosphatase activity; protein complex assembly; protein binding; nucleus; cellular_component; protein dimerization activity; nucleotide binding; ATP binding; biological_process; molecular_function
Homolog in other species MDN1
Immgen Expression
MEDIAN(LOW IN GN.BM, HIGH IN B.GC.SP, PROB.FRBC.FL)
Gnf Expression
LOW
LOW
LOW
MEDIAN
MEDIAN
MEDIAN(HIGH IN EMB GROUP, PLACENTA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000058006
Chromosome 4
Coordinate 32,669,591     (Assembly: GRCm38)    
Ref Base T
Codon Change gaT/gaG
Var Base G
Zygosity Heterozygous
Read Depth 15
Allele Frequency
T:R0.47
G:V0.53
Amino Acid Position 409
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL01901
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 41 Other Mutations

 Predictions 
Sift Score 0
Sift Prediction deleterious

 Protein domains 
ENSMUSP00000136222:
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 ENSMUSP00000136222 Superfamily 299
596 Description available Search pathways
Midasin Midasin IPR012099 ENSMUSP00000136222 PIRSF 7
5580 Description available Search pathways
ATPase, dynein-related, AAA domain ATPase_dyneun-rel_AAA IPR011704 ENSMUSP00000136222 Pfam 325
445 Description available Search pathways

 Availability Details 
Availability Cryopreserved