Myt1 - SNV Details



 Gene Information 
Gene Name Myt1
Old Gene Names for Myt1 Nztf2
Gene Description myelin transcription factor 1 [Source:MGI Symbol;Acc:MGI:1100535]
MGI phenotype Mice homozygous for a knock-out allele die shortly after birth displaying improper diaphragm innervation and a failture to initiate breathing; mutant embryonic pancreata contain abnormal islet cells that express multiple hormones.
Uniprot Name
CCDS Name
Gene GO
cell differentiation; transcription
DNA-dependent; nervous system development; zinc ion binding; DNA binding; sequence-specific DNA binding transcription factor activity; protein binding; nucleus; regulation of transcription
DNA-dependent
Homolog in other species MYT1
Omim http://omim.org/entry/600379
Immgen Expression
MEDIAN(LOWER IN DC8+.TH, TGD.VG5+.ACT.IEL)
Gnf Expression
LOW/MEDIAN(HIGH IN FERTILIZEDEGG, OOCYTE)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000010505
Chromosome 2
Coordinate 181,797,234     (Assembly: GRCm38)    
Ref Base A
Codon Change gAt/gGt
Var Base G
Zygosity Heterozygous
Read Depth 39
Allele Frequency
A:R0.69
G:V0.31
Amino Acid Position 225
Amino Acid Change D->G (Aspartic acid -> Glycine)
Sample ID IGL02209
Median Base Quality 35
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 38 Other Mutations

 Predictions 
Polyphen Score 0.03
Polyphen Prediction Benign
Sift Score 0.47
Sift Prediction tolerated

 Availability Details 
Availability Progeny Cryopreserved , Cryopreserved