Fancm - SNV Details



 Human Rare Diseases 
Fanconi anemia

 Gene Information 
Gene Name Fancm
Old Gene Names for Fancm Ai427100 , C730036b14rik , D12ertd364e
Gene Description Fanconi anemia, complementation group M [Source:MGI Symbol;Acc:MGI:2442306]
MGI phenotype Mice homozygous for a knock-out allele exhibit reduced female transmission, hypogonadism, premature death, and increased incidence of tumors.
Uniprot Name
CCDS Name
Gene GO
nuclease activity; helicase activity; chromatin binding; DNA metabolic process; hydrolase activity; ATP-dependent helicase activity; DNA repair; DNA binding; protein binding; resolution of meiotic recombination intermediates; replication fork processing; nucleic acid binding; ATP binding; Fanconi anaemia nuclear complex; FANCM-MHF complex
Homolog in other species FANCM
Omim http://omim.org/entry/609644
Immgen Expression
MEDIAN/HIGH(LOW IN MYELOID GROUP, HIGH IN BCELL GROUP, ABT GROUP)
Gnf Expression
LOW/MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000055884
Chromosome 12
Coordinate 65,106,485     (Assembly: GRCm38)    
Ref Base T
Var Base A
Zygosity Heterozygous
Read Depth 35
Allele Frequency
T:R0.43
A:V0.54
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL02479
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 58 Other Mutations

 Predictions 
Polyphen Score 1
Polyphen Prediction Probably damaging

 Availability Details 
Availability Progeny Cryopreserved