Mutagenetix > Incidental Mutation

Incidental Mutation 'R0415:Tmprss13'

261764

Institutional Source

Beutler Lab

Gene Symbol

Tmprss13

Ensembl Gene

ENSMUSG00000037129

Gene Name

transmembrane protease, serine 13

Synonyms

MMRRC Submission

038617-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0415 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45319100-45347581 bp(+) (GRCm38)

Type of Mutation

splice site (43 bp from exon)

DNA Base Change (assembly)

A to G at 45337132 bp (GRCm38)

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 null
Transcript: ENSMUST00000034597

SMART Domains

Protein: ENSMUSP00000034597
Gene: ENSMUSG00000037129

Domain	Start	End	E-Value	Type
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: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.6%

Validation Efficiency

97% (99/102)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427G23Rik	A	T	5: 23,831,050 (GRCm38)		noncoding transcript	Het
Acox2	A	G	14: 8,243,835 (GRCm38)		probably benign	Het
Adgb	T	C	10: 10,431,067 (GRCm38)		probably null	Het
Adgra3	C	A	5: 49,961,757 (GRCm38)		probably benign	Het
Adgre4	G	A	17: 55,852,288 (GRCm38)	V658I	probably benign	Het
Ahnak	A	G	19: 9,012,871 (GRCm38)		probably benign	Het
Anapc2	A	G	2: 25,278,325 (GRCm38)	T159A	probably damaging	Het
Arfgef3	A	G	10: 18,613,127 (GRCm38)		probably benign	Het
Atf7ip	C	T	6: 136,560,012 (GRCm38)	S81L	possibly damaging	Het
Cacna1i	A	G	15: 80,368,830 (GRCm38)		probably benign	Het
Camk1	A	T	6: 113,341,891 (GRCm38)	Y20*	probably null	Het
Ccdc40	T	C	11: 119,232,118 (GRCm38)	Y249H	possibly damaging	Het
Cd109	T	A	9: 78,712,615 (GRCm38)	S1380T	probably benign	Het
Cfap57	A	T	4: 118,569,431 (GRCm38)	L1107Q	possibly damaging	Het
Col6a4	C	T	9: 106,075,080 (GRCm38)	V540I	probably damaging	Het
Cst9	T	A	2: 148,838,442 (GRCm38)		probably benign	Het
Cul5	C	T	9: 53,667,070 (GRCm38)	V73I	probably benign	Het
Cxcl16	T	A	11: 70,458,748 (GRCm38)	K84*	probably null	Het
Cyp2c29	T	C	19: 39,329,095 (GRCm38)		probably benign	Het
D6Ertd527e	C	G	6: 87,111,524 (GRCm38)	T223S	unknown	Het
Dip2c	C	T	13: 9,568,289 (GRCm38)		probably benign	Het
Dis3	A	T	14: 99,087,456 (GRCm38)	I513N	probably damaging	Het
Dnajc16	A	T	4: 141,789,048 (GRCm38)	L3*	probably null	Het
Dop1a	T	A	9: 86,506,502 (GRCm38)	L480M	probably damaging	Het
Eml6	A	G	11: 29,749,392 (GRCm38)	V1787A	possibly damaging	Het
Etnk1	A	G	6: 143,180,774 (GRCm38)	N115S	probably damaging	Het
Fryl	T	C	5: 73,098,414 (GRCm38)	Y758C	probably damaging	Het
Gbp4	G	A	5: 105,121,106 (GRCm38)	R394C	possibly damaging	Het
Ggnbp2	A	C	11: 84,833,225 (GRCm38)		probably benign	Het
Gm7137	A	G	10: 77,788,173 (GRCm38)		probably benign	Het
Gstm2	T	A	3: 107,984,006 (GRCm38)	Q132L	probably benign	Het
Habp2	T	C	19: 56,317,717 (GRCm38)		probably benign	Het
Hectd2	T	C	19: 36,584,884 (GRCm38)		probably benign	Het
Htr6	A	G	4: 139,062,081 (GRCm38)	I291T	possibly damaging	Het
Ighg2c	T	C	12: 113,287,910 (GRCm38)	D199G	unknown	Het
Itih2	A	G	2: 10,105,615 (GRCm38)		probably benign	Het
Kcnab2	A	G	4: 152,395,136 (GRCm38)	F248S	probably benign	Het
Kcnc4	T	C	3: 107,445,433 (GRCm38)	K610E	probably damaging	Het
Kcnk16	T	A	14: 20,262,975 (GRCm38)		probably null	Het
Kndc1	C	T	7: 139,930,124 (GRCm38)	T1293I	probably damaging	Het
Lcp1	A	T	14: 75,227,006 (GRCm38)	I556F	possibly damaging	Het
Lrrc8d	T	C	5: 105,811,865 (GRCm38)	L47P	probably damaging	Het
Lyset	T	A	12: 102,744,876 (GRCm38)	Y119*	probably null	Het
Lyst	T	C	13: 13,711,610 (GRCm38)		probably benign	Het
Macrod2	G	A	2: 142,210,145 (GRCm38)		probably null	Het
Micalcl	C	T	7: 112,381,028 (GRCm38)	R70C	probably damaging	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCT	4: 87,841,339 (GRCm38)		probably benign	Het
Msh3	A	G	13: 92,346,786 (GRCm38)	V283A	possibly damaging	Het
Nup205	T	C	6: 35,214,634 (GRCm38)		probably benign	Het
Nxpe2	T	C	9: 48,326,614 (GRCm38)	T114A	probably damaging	Het
Or51e2	C	T	7: 102,742,087 (GRCm38)	M305I	probably benign	Het
Or5m10	A	T	2: 85,887,438 (GRCm38)	I213F	possibly damaging	Het
Or5m9	A	T	2: 86,047,055 (GRCm38)	H191L	probably benign	Het
Or8c15	A	T	9: 38,209,973 (GRCm38)	M305L	probably benign	Het
Or8g2	A	G	9: 39,909,983 (GRCm38)	Y60C	probably damaging	Het
Pard3	G	A	8: 127,610,566 (GRCm38)	G1221D	probably damaging	Het
Pax5	G	A	4: 44,691,886 (GRCm38)	A120V	probably damaging	Het
Pcsk6	C	T	7: 66,033,874 (GRCm38)	R746C	probably damaging	Het
Pif1	G	A	9: 65,588,051 (GRCm38)	C81Y	probably benign	Het
Plcb1	A	G	2: 135,337,499 (GRCm38)	Y609C	probably damaging	Het
Plcd4	C	A	1: 74,552,097 (GRCm38)	S217Y	probably damaging	Het
Plxna1	G	A	6: 89,357,336 (GRCm38)	H104Y	probably benign	Het
Polr2k	A	G	15: 36,175,456 (GRCm38)	Y45C	probably damaging	Het
Prex1	A	G	2: 166,586,699 (GRCm38)		probably benign	Het
Pth2r	A	G	1: 65,388,439 (GRCm38)	M424V	probably benign	Het
Pygm	A	G	19: 6,391,366 (GRCm38)	R464G	probably benign	Het
Rad51c	A	G	11: 87,397,655 (GRCm38)	L234P	probably damaging	Het
Rnf145	A	G	11: 44,525,138 (GRCm38)	Y60C	probably damaging	Het
Rnf167	T	C	11: 70,649,699 (GRCm38)	I135T	probably damaging	Het
Rnf213	A	T	11: 119,414,469 (GRCm38)	I509F	probably damaging	Het
Ro60	G	T	1: 143,760,075 (GRCm38)	N444K	probably benign	Het
Ryr2	T	C	13: 11,869,156 (GRCm38)	S213G	probably damaging	Het
Selenbp1	T	C	3: 94,936,913 (GRCm38)	V27A	possibly damaging	Het
Selenof	T	G	3: 144,577,692 (GRCm38)	L14R	probably damaging	Het
Sfswap	A	T	5: 129,504,126 (GRCm38)	D121V	probably damaging	Het
Slc25a34	C	A	4: 141,620,469 (GRCm38)	M300I	possibly damaging	Het
Slc34a3	T	G	2: 25,229,110 (GRCm38)	T583P	probably benign	Het
Slc66a3	C	A	12: 16,997,710 (GRCm38)		probably benign	Het
Smg1	C	A	7: 118,182,468 (GRCm38)	A1199S	probably benign	Het
Spint1	A	G	2: 119,245,615 (GRCm38)	T231A	probably damaging	Het
Sptbn1	A	C	11: 30,149,576 (GRCm38)	N229K	probably damaging	Het
Sult2b1	A	G	7: 45,730,092 (GRCm38)		probably benign	Het
Tas2r123	A	T	6: 132,847,838 (GRCm38)	M233L	probably damaging	Het
Tbcel	C	A	9: 42,444,500 (GRCm38)	C139F	probably benign	Het
Thbs2	A	C	17: 14,679,973 (GRCm38)	S573A	probably benign	Het
Tmem132c	A	G	5: 127,563,705 (GRCm38)	E980G	probably damaging	Het
Tmem247	G	T	17: 86,922,322 (GRCm38)	C197F	probably damaging	Het
Tmem43	C	A	6: 91,482,318 (GRCm38)	P257Q	probably benign	Het
Ubr5	T	C	15: 37,972,980 (GRCm38)	T2626A	probably damaging	Het
Vmn1r196	T	A	13: 22,293,836 (GRCm38)	V215D	probably damaging	Het
Vmn1r22	G	T	6: 57,900,332 (GRCm38)	T220K	probably benign	Het
Vmn2r116	G	A	17: 23,387,279 (GRCm38)	M388I	possibly damaging	Het
Vmn2r74	A	C	7: 85,961,410 (GRCm38)	C25G	probably damaging	Het
Xndc1	T	C	7: 102,080,616 (GRCm38)		probably benign	Het
Zfp282	A	G	6: 47,897,881 (GRCm38)	D340G	probably damaging	Het
Zfp282	T	A	6: 47,905,053 (GRCm38)	I558N	possibly damaging	Het
Zfp316	T	A	5: 143,264,491 (GRCm38)	T56S	unknown	Het
Zfp345	A	G	2: 150,474,559 (GRCm38)		probably benign	Het

Other mutations in Tmprss13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02111:Tmprss13	APN	9	45,336,105 (GRCm38)	missense	probably damaging	0.99
IGL02112:Tmprss13	APN	9	45,339,404 (GRCm38)	missense	probably damaging	1.00
IGL02116:Tmprss13	APN	9	45,333,674 (GRCm38)	missense	probably benign
IGL02669:Tmprss13	APN	9	45,332,526 (GRCm38)	missense	probably benign	0.18
IGL02961:Tmprss13	APN	9	45,345,003 (GRCm38)	missense	probably damaging	1.00
FR4449:Tmprss13	UTSW	9	45,328,558 (GRCm38)	missense	unknown
R0233:Tmprss13	UTSW	9	45,337,100 (GRCm38)	splice site	probably benign
R0271:Tmprss13	UTSW	9	45,333,688 (GRCm38)	splice site	probably benign
R0742:Tmprss13	UTSW	9	45,332,467 (GRCm38)	missense	probably damaging	0.98
R1178:Tmprss13	UTSW	9	45,328,647 (GRCm38)	missense	unknown
R1447:Tmprss13	UTSW	9	45,328,580 (GRCm38)	missense	unknown
R1493:Tmprss13	UTSW	9	45,336,107 (GRCm38)	missense	probably benign	0.00
R1574:Tmprss13	UTSW	9	45,343,231 (GRCm38)	missense	probably damaging	1.00
R1574:Tmprss13	UTSW	9	45,343,231 (GRCm38)	missense	probably damaging	1.00
R1599:Tmprss13	UTSW	9	45,338,318 (GRCm38)	missense	probably damaging	1.00
R2007:Tmprss13	UTSW	9	45,332,545 (GRCm38)	missense	probably damaging	1.00
R2093:Tmprss13	UTSW	9	45,345,042 (GRCm38)	missense	probably damaging	0.99
R5666:Tmprss13	UTSW	9	45,344,955 (GRCm38)	missense	probably damaging	0.99
R5670:Tmprss13	UTSW	9	45,344,955 (GRCm38)	missense	probably damaging	0.99
R6273:Tmprss13	UTSW	9	45,345,332 (GRCm38)	missense	probably damaging	1.00
R6343:Tmprss13	UTSW	9	45,343,200 (GRCm38)	missense	possibly damaging	0.66
R6583:Tmprss13	UTSW	9	45,345,305 (GRCm38)	missense	probably damaging	1.00
R6671:Tmprss13	UTSW	9	45,343,231 (GRCm38)	missense	probably damaging	1.00
R6777:Tmprss13	UTSW	9	45,336,101 (GRCm38)	nonsense	probably null
R7135:Tmprss13	UTSW	9	45,338,345 (GRCm38)	missense	probably damaging	1.00
R7468:Tmprss13	UTSW	9	45,328,423 (GRCm38)	missense	unknown
R7617:Tmprss13	UTSW	9	45,333,560 (GRCm38)	nonsense	probably null
R8062:Tmprss13	UTSW	9	45,328,688 (GRCm38)	missense	unknown
R8871:Tmprss13	UTSW	9	45,338,406 (GRCm38)	missense	probably damaging	0.97
RF009:Tmprss13	UTSW	9	45,328,464 (GRCm38)	small insertion	probably benign
RF039:Tmprss13	UTSW	9	45,328,464 (GRCm38)	small insertion	probably benign
S24628:Tmprss13	UTSW	9	45,337,132 (GRCm38)	splice site	probably null
Z1177:Tmprss13	UTSW	9	45,343,192 (GRCm38)	missense	probably benign	0.04
Z1177:Tmprss13	UTSW	9	45,337,090 (GRCm38)	critical splice donor site	probably null

Predicted Primers

Posted On

2015-02-03