|Institutional Source||Beutler Lab|
|Gene Name||transmembrane protease, serine 13|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R6343 (G1)|
|Chromosomal Location||45319100-45347581 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 45343200 bp|
|Amino Acid Change||Threonine to Serine at position 422 (T422S)|
|Ref Sequence||ENSEMBL: ENSMUSP00000034597 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000034597]|
|Predicted Effect||possibly damaging
AA Change: T422S
PolyPhen 2 Score 0.658 (Sensitivity: 0.87; Specificity: 0.91)
AA Change: T422S
|Coding Region Coverage||
|Validation Efficiency||100% (51/51)|
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the type II transmembrane serine protease family. Transmembrane serine proteases are regulated by protease inhibitors and known to function in development, homeostasis, infection, and tumorigenesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and outwardly healthy but exhibit abnormal stratum corneum formation leading to impaired skin barrier function, as measured by the transepidermal fluid loss rate in newborn pups. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Tmprss13||
(F):5'- GGCCCACTGATTGCTGAAAG -3'
(R):5'- AGCCTTCATCTGCATACCAC -3'
(F):5'- GGTTCAGATGAAATGACTGACTTGC -3'
(R):5'- TCATCTGCATACCACACTTATATACG -3'