|Institutional Source||Beutler Lab|
|Gene Name||mucin 4|
|Is this an essential gene?||Probably non essential (E-score: 0.098)|
|Stock #||R1611 (G1)|
|Chromosomal Location||32735886-32782391 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to T at 32750986 bp|
|Amino Acid Change||Threonine to Isoleucine at position 288 (T288I)|
|Ref Sequence||ENSEMBL: ENSMUSP00000093813 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000096106] [ENSMUST00000132475]|
|Predicted Effect||possibly damaging
AA Change: T288I
PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
AA Change: T288I
|Predicted Effect||probably benign
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.1795|
|Coding Region Coverage||
|Validation Efficiency||97% (75/77)|
FUNCTION: The major constituents of mucus, the viscous secretion that covers epithelial surfaces such as those in the trachea, colon, and cervix, are highly glycosylated proteins called mucins. These glycoproteins play important roles in the protection of the epithelial cells and have been implicated in epithelial renewal and differentiation. This gene encodes an integral membrane glycoprotein found on the cell surface. A large 5' exon encodes at least 15 tandem repeats of 124-126 amino acids. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit resistance to DSS-treated colitis and colitis-associated colorectal cancer. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Muc4||
(F):5'- ACTCCTGCACAGACAATGTCTCAAG -3'
(R):5'- TGGGATGAAGGTGTCATCGAGACC -3'
(F):5'- GTCTCAAGTGACATCATCTTCAG -3'
(R):5'- TTGTCTCACCAGGAGAGATTG -3'