|Institutional Source||Beutler Lab|
|Gene Name||suppression of tumorigenicity 14 (colon carcinoma)|
|Synonyms||MT-SP1, matriptase, Tmprss14, Prss14, Epithin|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R5828 (G1)|
|Chromosomal Location||31089402-31131853 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||T to A at 31091507 bp|
|Amino Acid Change||Histidine to Leucine at position 700 (H700L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034478 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034478]|
|Predicted Effect||probably damaging
AA Change: H700L
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: H700L
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.406|
|Coding Region Coverage||
|Validation Efficiency||100% (63/63)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an epithelial-derived, integral membrane serine protease. This protease forms a complex with the Kunitz-type serine protease inhibitor, HAI-1, and is found to be activated by sphingosine 1-phosphate. This protease has been shown to cleave and activate hepatocyte growth factor/scattering factor, and urokinase plasminogen activator, which suggest the function of this protease as an epithelial membrane activator for other proteases and latent growth factors. The expression of this protease has been associated with breast, colon, prostate, and ovarian tumors, which implicates its role in cancer invasion, and metastasis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous inactivation of this locus results in pleiotropic defects affecting the development of the epidermis, hair follicles, and immune system. Mutant mice become dehydrated due to impaired epidermal barrier function and die within days of birth. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in St14||
(F):5'- TGCAAGAACCCATAGCCTG -3'
(R):5'- TGCGTTCATAGCCATCCACC -3'
(F):5'- TGGTCTGGCATGAAGCTCAC -3'
(R):5'- GTTCATAGCCATCCACCCCACC -3'