Mutagenetix > Incidental Mutation

Incidental Mutation 'R0271:Tmprss13'

35305

Institutional Source

Beutler Lab

Gene Symbol

Tmprss13

Ensembl Gene

ENSMUSG00000037129

Gene Name

transmembrane protease, serine 13

Synonyms

MMRRC Submission

038497-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0271 (G1)

Quality Score

190

Status

Validated

Chromosome

Chromosomal Location

45230398-45258879 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 45244986 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

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 98.5%
3x: 97.4%
10x: 95.2%
20x: 90.6%

Validation Efficiency

100% (65/65)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930544D05Rik	A	G	11: 70,507,474 (GRCm39)	Q173R	possibly damaging	Het
Ampd2	C	T	3: 107,994,032 (GRCm39)		probably benign	Het
Ankrd17	T	C	5: 90,402,658 (GRCm39)	S1467G	possibly damaging	Het
Arhgap31	T	G	16: 38,422,872 (GRCm39)	S1065R	possibly damaging	Het
Arhgef19	G	T	4: 140,977,918 (GRCm39)	M542I	probably benign	Het
C7	T	C	15: 5,044,862 (GRCm39)	D392G	possibly damaging	Het
Ccdc138	G	A	10: 58,411,645 (GRCm39)	C671Y	probably damaging	Het
Cdh8	A	G	8: 99,838,347 (GRCm39)	S498P	possibly damaging	Het
Cpb2	T	A	14: 75,495,149 (GRCm39)		probably null	Het
Cwc22	A	C	2: 77,751,202 (GRCm39)	N389K	probably benign	Het
Dgkb	T	A	12: 38,278,025 (GRCm39)	L550Q	probably damaging	Het
Dip2c	A	G	13: 9,665,811 (GRCm39)	R950G	probably damaging	Het
Eml6	A	G	11: 29,798,949 (GRCm39)	V437A	possibly damaging	Het
Fanca	T	C	8: 123,999,180 (GRCm39)		probably benign	Het
Fgd2	C	G	17: 29,585,982 (GRCm39)	L189V	possibly damaging	Het
Foxred2	A	C	15: 77,827,590 (GRCm39)	S590A	possibly damaging	Het
Gm1110	A	G	9: 26,831,962 (GRCm39)	F63S	probably damaging	Het
Gm14496	A	T	2: 181,637,747 (GRCm39)	M274L	probably benign	Het
Gm7008	T	A	12: 40,273,559 (GRCm39)		probably benign	Het
Gm9922	T	A	14: 101,966,989 (GRCm39)		probably benign	Het
Gtf3c3	A	T	1: 54,467,971 (GRCm39)	M222K	possibly damaging	Het
Hspa1b	A	G	17: 35,177,808 (GRCm39)	V59A	probably benign	Het
Impg1	T	C	9: 80,294,161 (GRCm39)		probably benign	Het
Khdc4	T	C	3: 88,593,636 (GRCm39)		probably benign	Het
Lpcat4	T	A	2: 112,073,590 (GRCm39)		probably null	Het
Mipol1	T	C	12: 57,507,740 (GRCm39)		probably benign	Het
Mrpl37	C	A	4: 106,923,658 (GRCm39)	R112L	possibly damaging	Het
Myo18b	T	C	5: 112,957,551 (GRCm39)	N1471D	possibly damaging	Het
Nes	G	A	3: 87,885,949 (GRCm39)	E1359K	possibly damaging	Het
Nipbl	A	T	15: 8,391,221 (GRCm39)	V251E	possibly damaging	Het
Nlrp1b	T	C	11: 71,052,591 (GRCm39)	I946V	possibly damaging	Het
Obscn	T	G	11: 58,947,568 (GRCm39)		probably benign	Het
Or10q1b	A	T	19: 13,682,499 (GRCm39)	T103S	probably benign	Het
Or4a2	T	A	2: 89,248,502 (GRCm39)	Y85F	probably benign	Het
Or51q1	T	A	7: 103,628,837 (GRCm39)	I146K	possibly damaging	Het
Or5m12	A	T	2: 85,734,633 (GRCm39)	M255K	possibly damaging	Het
Pck2	T	C	14: 55,782,041 (GRCm39)		probably null	Het
Pcsk9	A	G	4: 106,306,246 (GRCm39)		probably benign	Het
Phyhd1	A	T	2: 30,159,834 (GRCm39)	Q56L	probably benign	Het
Plxnc1	C	T	10: 94,673,780 (GRCm39)	G1001S	probably null	Het
Prss52	T	C	14: 64,351,127 (GRCm39)	V304A	probably benign	Het
Prss55	C	T	14: 64,313,056 (GRCm39)	G276D	probably benign	Het
Pzp	A	T	6: 128,496,477 (GRCm39)	Y252N	probably damaging	Het
Rad1	T	C	15: 10,490,543 (GRCm39)		probably null	Het
Ripply3	A	T	16: 94,136,616 (GRCm39)	E92D	possibly damaging	Het
Rpp30	T	A	19: 36,081,803 (GRCm39)	D255E	probably benign	Het
Rsad1	T	C	11: 94,439,290 (GRCm39)		probably benign	Het
Serpini2	A	G	3: 75,153,885 (GRCm39)	M358T	probably damaging	Het
Slc35a1	T	A	4: 34,664,125 (GRCm39)	E331V	probably benign	Het
Slc38a7	A	G	8: 96,572,506 (GRCm39)	F179L	probably damaging	Het
Stmn4	C	T	14: 66,593,732 (GRCm39)	Q42*	probably null	Het
Sytl2	T	C	7: 90,052,228 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,794,922 (GRCm39)	A520V	probably benign	Het
Tcp10a	A	G	17: 7,598,555 (GRCm39)	I162M	probably benign	Het
Tnfrsf14	A	G	4: 155,011,054 (GRCm39)		probably null	Het
Tpx2	A	G	2: 152,709,287 (GRCm39)		probably benign	Het
Vmn2r105	T	A	17: 20,454,965 (GRCm39)	N57I	probably damaging	Het
Wars1	C	T	12: 108,841,119 (GRCm39)	V220I	probably benign	Het
Washc1	T	A	17: 66,423,714 (GRCm39)	D212E	possibly damaging	Het
Wdr17	C	T	8: 55,146,131 (GRCm39)	A90T	possibly damaging	Het
Wdr43	A	G	17: 71,933,820 (GRCm39)	D139G	probably benign	Het
Zfp235	A	T	7: 23,836,556 (GRCm39)	H34L	possibly damaging	Het
Zkscan16	G	A	4: 58,952,391 (GRCm39)	V230I	probably benign	Het

Other mutations in Tmprss13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
RF009:Tmprss13	UTSW	9	45,239,762 (GRCm39)	small insertion	probably benign
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'- GGTGAGATGCTTGTTTCTCTCCCAG -3'
(R):5'- CTTCACAACTGCTATGGGCTTTGC -3'

Sequencing Primer
(F):5'- AAGAGCTTGAAGCCTCTGCTG -3'
(R):5'- TGCTCACAGGGTCATCTCAG -3'

Posted On

2013-05-09