Incidental Mutation 'RF009:Tmprss13'
ID 603060
Institutional Source Beutler Lab
Gene Symbol Tmprss13
Ensembl Gene ENSMUSG00000037129
Gene Name transmembrane protease, serine 13
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # RF009 (G1)
Quality Score 131.467
Status Not validated
Chromosome 9
Chromosomal Location 45230398-45258879 bp(+) (GRCm39)
Type of Mutation small insertion (9 aa in frame mutation)
DNA Base Change (assembly) ATCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC to ATCTCCAGCAAGGGCACCTCCTCAGGGCTCTCCAGCAAGGGCACCTCCTCAGGCCTCTCCAGCAAGGACACCTCCTCAGGCCTCTCCAACAAGGACACCTCCTCAGGCCTCTCCAGCAAGGGCACCTCCTC at 45239762 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000034597 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034597]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000034597
SMART Domains Protein: ENSMUSP00000034597
Gene: ENSMUSG00000037129

DomainStartEndE-ValueType
low complexity region 15 99 N/A INTRINSIC
low complexity region 114 128 N/A INTRINSIC
transmembrane domain 147 169 N/A INTRINSIC
LDLa 171 209 2.38e-1 SMART
SR 208 296 5.67e-4 SMART
Tryp_SPc 306 535 1.53e-93 SMART
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.7%
  • 10x: 99.3%
  • 20x: 98.5%
Validation Efficiency 96% (53/55)
MGI Phenotype 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
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030445D17Rik ACACACACCCGC AC 4: 136,189,661 (GRCm39) probably null Het
AI182371 A G 2: 34,979,209 (GRCm39) V153A possibly damaging Het
AI837181 CGG CGGTGG 19: 5,475,262 (GRCm39) probably benign Het
Ankhd1 GCGGCG GCGGCGTCGGCG 18: 36,693,975 (GRCm39) probably benign Het
Apoc2 C T 7: 19,405,767 (GRCm39) M71I probably benign Het
Arhgap17 CTGTTGTTG CTGTTG 7: 122,886,085 (GRCm39) probably benign Het
Atrn C A 2: 130,748,842 (GRCm39) T121K probably benign Het
Btnl12 T C 16: 37,674,841 (GRCm39) D207G probably benign Het
Ccdc170 C CCAG 10: 4,511,030 (GRCm39) probably benign Het
Cckbr GCA G 7: 105,083,893 (GRCm39) probably null Het
Cdk13 T C 13: 17,978,329 (GRCm39) D303G unknown Het
Cfap65 C A 1: 74,944,806 (GRCm39) R1477L probably damaging Het
Chd2 A G 7: 73,169,410 (GRCm39) S37P possibly damaging Het
Chga AGC AGCCGC 12: 102,527,679 (GRCm39) probably benign Het
Csf2rb2 T C 15: 78,176,127 (GRCm39) I259V probably benign Het
Csnk1d A T 11: 120,862,453 (GRCm39) N275K possibly damaging Het
Dmxl1 A C 18: 50,026,461 (GRCm39) R1856S probably damaging Het
Dnah5 T C 15: 28,204,165 (GRCm39) V14A probably benign Het
Edc4 G A 8: 106,615,812 (GRCm39) S729N probably benign Het
Emilin3 T C 2: 160,751,012 (GRCm39) S246G probably benign Het
Epc2 T G 2: 49,422,249 (GRCm39) probably null Het
Exoc6 T A 19: 37,560,068 (GRCm39) F101I probably benign Het
Fam171b GCAGCA GCAGCACCAGCA 2: 83,643,224 (GRCm39) probably benign Het
Fam81b CTGTT CTGTTGTT 13: 76,419,435 (GRCm39) probably benign Het
Flywch1 CTCACCCACTCCTGGTGT CTCACCCACTCCTGGTGTGGGGAGGCTACGTAGTCACCCACTCCTGGTGT 17: 23,981,135 (GRCm39) probably null Het
Gab3 TTC TTCCTC X: 74,043,598 (GRCm39) probably benign Het
Gab3 CTT CTTATT X: 74,043,630 (GRCm39) probably null Het
Gabpa C A 16: 84,641,224 (GRCm39) Q93K probably benign Het
Gabre GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC GGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCAGGCTCTGGCTCAGGCTC X: 71,314,318 (GRCm39) probably benign Het
Gabre GGCTCA GGCTCAAGCTCA X: 71,314,319 (GRCm39) probably benign Het
H2-T3 TCCCGAAGAAC TC 17: 36,500,294 (GRCm39) probably benign Het
Htr5a A G 5: 28,047,859 (GRCm39) D138G probably damaging Het
Ifi207 G A 1: 173,556,558 (GRCm39) P727S probably benign Het
Ifna13 T A 4: 88,562,145 (GRCm39) S160C probably damaging Het
Kcnh8 G A 17: 53,285,267 (GRCm39) R1079H probably benign Het
Klri2 GGAG GG 6: 129,710,737 (GRCm39) probably null Het
Lce1m GTTGCTGCCACTG GTTGCTGCCACTGTTGCTGCCACTG 3: 92,925,438 (GRCm39) probably benign Het
Lrch1 TTGGTGGTGCTGGTGG TTGGTGG 14: 75,185,014 (GRCm39) probably benign Het
Lrch4 A G 5: 137,635,805 (GRCm39) probably null Het
Lrrc2 TTGATTCGGTTCACC T 9: 110,810,744 (GRCm39) probably null Het
Map1a GCTCCAGC GCTCCAGCCCCAGCTCCAGCTCCAGCTCCACCTCCAGC 2: 121,136,782 (GRCm39) probably benign Het
Mettl25 T C 10: 105,669,100 (GRCm39) probably benign Het
Mex3b A G 7: 82,516,968 (GRCm39) D37G probably damaging Het
Mon1a T A 9: 107,778,433 (GRCm39) V219E probably damaging Het
Myh3 TTACG TTACGTACG 11: 66,977,183 (GRCm39) probably null Het
Myh3 GATTA GATTAATTA 11: 66,977,181 (GRCm39) probably null Het
Myh3 ATTAC ATTACTTAC 11: 66,977,182 (GRCm39) probably null Het
Myo5b T A 18: 74,777,070 (GRCm39) C377S probably damaging Het
Nefh ACTTGGCCTCAGCTGGGG ACTTGGCCTCAGCTGGGGCCTTGGCCTCAGCTGGGG 11: 4,890,997 (GRCm39) probably benign Het
Nos1ap T C 1: 170,146,150 (GRCm39) D468G probably damaging Het
Ntn5 T C 7: 45,342,684 (GRCm39) probably null Het
Oog2 T C 4: 143,921,855 (GRCm39) V255A probably benign Het
Or5ac15 T A 16: 58,940,274 (GRCm39) H53L probably damaging Het
Or8b37 A T 9: 37,959,043 (GRCm39) H175L probably damaging Het
Pdgfd C A 9: 6,288,624 (GRCm39) L93M probably damaging Het
Pgls G T 8: 72,045,107 (GRCm39) V83L probably damaging Het
Pigw C A 11: 84,767,987 (GRCm39) Q447H probably damaging Het
Pnma8a TCATGATGCACCTGCTTCAACATC TCATGATGCACCTGCTTCAACATCGCATGATGCACCTGCTTCAACATC 7: 16,695,352 (GRCm39) probably benign Het
Poc1a C A 9: 106,172,417 (GRCm39) L253M possibly damaging Het
Ppl T A 16: 4,915,795 (GRCm39) E589D probably benign Het
Prkar1b A G 5: 139,094,376 (GRCm39) S71P probably benign Het
Prx T C 7: 27,218,385 (GRCm39) F1101S probably damaging Het
Rffl A G 11: 82,736,598 (GRCm39) V26A probably benign Het
Scube3 T A 17: 28,387,371 (GRCm39) L923Q probably damaging Het
Setd2 C T 9: 110,379,779 (GRCm39) P1198L probably damaging Het
Shank2 C A 7: 143,965,308 (GRCm39) A972E possibly damaging Het
Slc10a6 A G 5: 103,756,858 (GRCm39) L302P probably damaging Het
Slc29a3 C T 10: 60,586,340 (GRCm39) G42D probably benign Het
Spart T C 3: 55,035,027 (GRCm39) V471A probably benign Het
Srebf1 T C 11: 60,094,942 (GRCm39) T486A probably benign Het
Sspo T A 6: 48,436,919 (GRCm39) Y1284* probably null Het
Supt20 AGCAGC AGCAGCCGCAGC 3: 54,635,083 (GRCm39) probably benign Het
Tcof1 GCA GCACCA 18: 60,968,815 (GRCm39) probably benign Het
Tff1 CTTCCTG C 17: 31,383,901 (GRCm39) probably benign Het
Tnfrsf25 T C 4: 152,204,081 (GRCm39) W341R probably damaging Het
Trappc9 GCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT GCTGCTGCTGCTGCTTCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT 15: 72,673,136 (GRCm39) probably benign Het
Trav8d-1 T A 14: 53,016,207 (GRCm39) L31Q probably damaging Het
Ttc23 A T 7: 67,375,777 (GRCm39) I452F possibly damaging Het
Uimc1 T C 13: 55,198,598 (GRCm39) E526G possibly damaging Het
Ulbp1 T A 10: 7,397,405 (GRCm39) K233N unknown Het
Usp17ld A T 7: 102,899,495 (GRCm39) V479E probably damaging Het
Utrn T TGTTACCC 10: 12,509,689 (GRCm39) probably null Het
Vmn1r9 C T 6: 57,048,465 (GRCm39) S180L probably benign Het
Wdr97 GAGGAGGA G 15: 76,247,367 (GRCm39) probably null Het
Zfp598 CACC CACCCCTACC 17: 24,899,761 (GRCm39) probably benign Het
Other mutations in Tmprss13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02111:Tmprss13 APN 9 45,247,403 (GRCm39) missense probably damaging 0.99
IGL02112:Tmprss13 APN 9 45,250,702 (GRCm39) missense probably damaging 1.00
IGL02116:Tmprss13 APN 9 45,244,972 (GRCm39) missense probably benign
IGL02669:Tmprss13 APN 9 45,243,824 (GRCm39) missense probably benign 0.18
IGL02961:Tmprss13 APN 9 45,256,301 (GRCm39) missense probably damaging 1.00
FR4449:Tmprss13 UTSW 9 45,239,856 (GRCm39) missense unknown
R0233:Tmprss13 UTSW 9 45,248,398 (GRCm39) splice site probably benign
R0271:Tmprss13 UTSW 9 45,244,986 (GRCm39) splice site probably benign
R0415:Tmprss13 UTSW 9 45,248,430 (GRCm39) splice site probably null
R0742:Tmprss13 UTSW 9 45,243,765 (GRCm39) missense probably damaging 0.98
R1178:Tmprss13 UTSW 9 45,239,945 (GRCm39) missense unknown
R1447:Tmprss13 UTSW 9 45,239,878 (GRCm39) missense unknown
R1493:Tmprss13 UTSW 9 45,247,405 (GRCm39) missense probably benign 0.00
R1574:Tmprss13 UTSW 9 45,254,529 (GRCm39) missense probably damaging 1.00
R1574:Tmprss13 UTSW 9 45,254,529 (GRCm39) missense probably damaging 1.00
R1599:Tmprss13 UTSW 9 45,249,616 (GRCm39) missense probably damaging 1.00
R2007:Tmprss13 UTSW 9 45,243,843 (GRCm39) missense probably damaging 1.00
R2093:Tmprss13 UTSW 9 45,256,340 (GRCm39) missense probably damaging 0.99
R5666:Tmprss13 UTSW 9 45,256,253 (GRCm39) missense probably damaging 0.99
R5670:Tmprss13 UTSW 9 45,256,253 (GRCm39) missense probably damaging 0.99
R6273:Tmprss13 UTSW 9 45,256,630 (GRCm39) missense probably damaging 1.00
R6343:Tmprss13 UTSW 9 45,254,498 (GRCm39) missense possibly damaging 0.66
R6583:Tmprss13 UTSW 9 45,256,603 (GRCm39) missense probably damaging 1.00
R6671:Tmprss13 UTSW 9 45,254,529 (GRCm39) missense probably damaging 1.00
R6777:Tmprss13 UTSW 9 45,247,399 (GRCm39) nonsense probably null
R7135:Tmprss13 UTSW 9 45,249,643 (GRCm39) missense probably damaging 1.00
R7468:Tmprss13 UTSW 9 45,239,721 (GRCm39) missense unknown
R7617:Tmprss13 UTSW 9 45,244,858 (GRCm39) nonsense probably null
R8062:Tmprss13 UTSW 9 45,239,986 (GRCm39) missense unknown
R8871:Tmprss13 UTSW 9 45,249,704 (GRCm39) missense probably damaging 0.97
RF039:Tmprss13 UTSW 9 45,239,762 (GRCm39) small insertion probably benign
S24628:Tmprss13 UTSW 9 45,248,430 (GRCm39) splice site probably null
Z1177:Tmprss13 UTSW 9 45,254,490 (GRCm39) missense probably benign 0.04
Z1177:Tmprss13 UTSW 9 45,248,388 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TGTAAGCACAGGCCTTCCTC -3'
(R):5'- TACACTCTCGTTGGGGAGGATG -3'

Sequencing Primer
(F):5'- CTGTCCCAGTCGCTTGG -3'
(R):5'- ATGATCTGCCCGATGATGAC -3'
Posted On 2019-12-04