|Institutional Source||Beutler Lab|
|Gene Name||mucin 5, subtype B, tracheobronchial|
|Synonyms||MUC5, MUC9, 2300002I04Rik|
|Is this an essential gene?||Probably non essential (E-score: 0.200)|
|Stock #||R3785 (G1)|
|Chromosomal Location||141839070-141873084 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 141865116 bp|
|Amino Acid Change||Threonine to Isoleucine at position 3933 (T3933I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000128276 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000165147]|
|Predicted Effect||possibly damaging
AA Change: T3933I
PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: T3933I
|Meta Mutation Damage Score||0.1295|
|Coding Region Coverage||
|Validation Efficiency||95% (38/40)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the mucin family of proteins, which are highly glycosylated macromolecular components of mucus secretions. This family member is the major gel-forming mucin in mucus. It is a major contributor to the lubricating and viscoelastic properties of whole saliva, normal lung mucus and cervical mucus. This gene has been found to be up-regulated in some human diseases, including sinus mucosa of chronic rhinosinusitis (CRS), CRS with nasal polyposis, chronic obstructive pulmonary disease (COPD) and H. pylori-associated gastric disease, and it may be involved in the pathogenesis of these diseases. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for a knock-out allele accumulate materials in the upper and lower airways leading to chronic infection and inflammation that does not resolve and results in premature death. Macrophage function is impaired. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Muc5b||
(F):5'- TATAGCCACTGTACCTCGTCAC -3'
(R):5'- CACCAGGTAAGAACAGTTGCC -3'
(F):5'- ACTGTACCTCGTCACCCATGG -3'
(R):5'- GTTGCCCAAATGCCTGACAG -3'