Dnm1l - SNV Details



 Human Rare Diseases 
Lethal encephalopathy due to mitochondrial and peroxisomal fission defect

 Gene Information 
Gene Name Dnm1l
Old Gene Names for Dnm1l Dnmlp1 , 6330417m19rik , Ai450666
Gene Description dynamin 1-like [Source:MGI Symbol;Acc:MGI:1921256]
MGI phenotype Mice homozygous for a knock-out allele exhibit embryonic lethality at E11.5 with internal hemorrhage and small size. Mice heterozygous for an ENU induced allele have dilated cardiomyopathy and congestive heart failure, homozygous are embryonic lethal with posterior truncation at E11.5.
Uniprot Name
CCDS Name
Gene GO
GTP binding
GTPase activity
Golgi apparatus
cytoplasm
cytosol
endomembrane system
hydrolase activity
membrane
mitochondrial fragmentation involved in apoptosis
mitochondrial outer membrane
nucleotide binding
Homolog in other species DNM1L
Omim http://omim.org/entry/603850
Immgen Expression
HIGH
Gnf Expression
MEDIAN
MEDIAN(HIGH IN M1)
HIGH(HIGHER IN IMM GROUP, NS GROUPS)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000022789
Chromosome 16
Coordinate 16,333,827     (Assembly: GRCm38)    
Ref Base A
Var Base G
Zygosity Heterozygous
Read Depth 28
Allele Frequency
A:0.68
G:0.32
Amino Acid Change Disrupted splicing
Sample ID IGL00675
Median Base Quality 41
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 18 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction N/A

 Availability Details 
Availability