Mms19 - SNV Details



 Gene Information 
Gene Name Mms19
Old Gene Names for Mms19 2610042o15rik , Ai316855 , C79368 , C86341 , Mms19l
Gene Description MMS19 (MET18 S. cerevisiae) [Source:MGI Symbol;Acc:MGI:1919449]
Uniprot Name
CCDS Name
Gene GO
positive regulation of transcription
DNA-templated; transcription coactivator activity; membrane; DNA metabolic process; cytoplasm; iron-sulfur cluster assembly; DNA repair; protein binding; binding; nucleus; spindle; estrogen receptor binding; MMXD complex; cellular response to DNA damage stimulus; chromosome segregation; transcription
DNA-templated; CIA complex
Homolog in other species MMS19
Omim http://omim.org/entry/614777
Immgen Expression
HIGH(LOWER IN GN.BM)
Novel Yes

 Mutation Information 
Mutation Type Splice
Ensembl ID ENSMUSG00000025159
Chromosome 19
Coordinate 41,952,406     (Assembly: GRCm38)    
Ref Base C
Var Base T
Zygosity Heterozygous
Read Depth 55
Allele Frequency
C:R0.60
T:V0.40
Amino Acid Change Disrupted splicing
Splice Position 1
Sample ID IGL02795
Median Base Quality 38
Backgrounds C57BL/6
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 57 Other Mutations

 Predictions 

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved