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
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
Gnf Expression
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000024831
Chromosome 19
Coordinate 3,268,817     (Assembly: GRCm38)    
Ref Base T
Codon Change Agc/Tgc
Var Base A
Zygosity Heterozygous
Read Depth 50
Allele Frequency
Amino Acid Position 420
Amino Acid Change S->C (Serine -> Cysteine)
Sample ID IGL01358
Median Base Quality 33
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 52 Other Mutations

Polyphen Score 1
Polyphen Prediction Probably damaging
Sift Score 0
Sift Prediction deleterious

 Protein domains 
Image provided by Ensembl

Full name Short name Interpro SeqRegionName Type Start End Description Search pathways
DNA helicase, putative DNA_helicase_put IPR004483 ENSMUSP00000025751 TIGRfam 18
639 Description available Search pathways
P-loop containing nucleoside triphosphate hydrolase P-loop_NTPase IPR027417 ENSMUSP00000025751 Superfamily 181
615 Description available Search pathways

 Availability Details 
Availability Cryopreserved