Muc5b - SNV Details



 Human Rare Diseases 
Diffuse panbronchiolitis
Idiopathic pulmonary fibrosis

 Gene Information 
Gene Name Muc5b
Old Gene Names for Muc5b 2300002i04rik , Av085033
Gene Description mucin 5, subtype B, tracheobronchial [Source:MGI Symbol;Acc:MGI:1921430]
Uniprot Name
CCDS Name
Gene GO
peptidase inhibitor activity; protein binding; cellular_component; extracellular region; biological_process; extracellular space; molecular_function
Homolog in other species MUC5B
Omim http://omim.org/entry/600770
Immgen Expression
MEDIAN(HIGHER IN NK GROUP, T.8MEM.LN, TGD.SPT.4NVE.PP, T.4FP3+25+.SP)
Gnf Expression
LOW/MEDIAN(HIGH IN TESTIS, MEDIALOLFACTORYEPITHELIUM.MOE, VOMERALNASALORGAN.VMO, SEPTAL.ORGAN, SEPTUM.RESP.EPITH)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000066108
Chromosome 7
Coordinate 141,864,264     (Assembly: GRCm38)    
Ref Base T
Var Base C
Zygosity Heterozygous
Read Depth 46
Allele Frequency
T:R0.59
C:V0.41
Amino Acid Change I->T (Isoleucine -> Threonine)
Sample ID IGL02963
Median Base Quality 39
Backgrounds C57BL/6n
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 0.93
Polyphen Prediction Possibly damaging

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved