Ighmbp2 - SNV Details



 Human Rare Diseases 
Spinal muscular atrophy with respiratory distress

 Gene Information 
Gene Name Ighmbp2
Old Gene Names for Ighmbp2 Smbp2
Gene Description immunoglobulin mu binding protein 2 [Source:MGI Symbol;Acc:MGI:99954]
MGI phenotype Mutations in this gene result in progressive degeneration of spinal motor neurons and muscle atrophy.
Uniprot Name
CCDS Name
Gene GO
RNA binding; ATP-dependent 5'-3' DNA helicase activity; hydrolase activity; cytoplasm; zinc ion binding; DNA binding; nucleoside-triphosphatase activity; RNA-dependent ATPase activity; protein binding; neuronal cell body; nucleus; SMN complex; nucleotide binding; protein homooligomerization; nucleic acid binding; ribosome binding; ATP-dependent 5'-3' RNA helicase activity; ATP binding; tRNA binding; transcription factor binding; DNA-dependent ATPase activity; spinal cord motor neuron differentiation
Homolog in other species IGHMBP2
Omim http://omim.org/entry/600502
Immgen Expression
MEDIAN(LOWER IN MYELOID GROUP AND DC.LC.SK)
Gnf Expression
MEDIAN
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024831
Chromosome 19
Coordinate 3,265,538     (Assembly: GRCm38)    
Ref Base A
Codon Change gaT/gaG
Var Base C
Zygosity Heterozygous
Read Depth 12
Allele Frequency
A:R0.67
C:V0.33
Amino Acid Position 627
Amino Acid Change D->E (Aspartic acid -> Glutamic acid)
Sample ID IGL01949
Median Base Quality 40
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 32 Other Mutations

 Predictions 
Polyphen Score 0
Polyphen Prediction Benign
Sift Score 0.32
Sift Prediction tolerated

 Availability Details 
Availability Cryopreserved