Mutagenetix > Incidental Mutation

Incidental Mutation 'R1178:Tmprss13'

100160

Institutional Source

Beutler Lab

Gene Symbol

Tmprss13

Ensembl Gene

ENSMUSG00000037129

Gene Name

transmembrane protease, serine 13

Synonyms

MMRRC Submission

039250-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1178 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45230398-45258879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45239945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 84 (R84S)

Ref Sequence

ENSEMBL: ENSMUSP00000034597 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034597]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000034597
AA Change: R84S

SMART Domains

Protein: ENSMUSP00000034597
Gene: ENSMUSG00000037129
AA Change: R84S

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

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

98% (51/52)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	G	T	13: 81,588,156 (GRCm39)		probably benign	Het
Apcdd1	A	T	18: 63,070,168 (GRCm39)	Y145F	probably damaging	Het
Brinp1	C	T	4: 68,680,790 (GRCm39)	G580E	probably damaging	Het
Cep128	G	A	12: 91,226,929 (GRCm39)	T227M	probably damaging	Het
Cxcr2	A	T	1: 74,197,527 (GRCm39)	D7V	probably benign	Het
Dync2h1	C	T	9: 7,101,193 (GRCm39)		probably benign	Het
Eps8	T	C	6: 137,499,852 (GRCm39)	Q209R	possibly damaging	Het
Gabrg3	C	T	7: 56,384,839 (GRCm39)	V241I	probably benign	Het
Gfpt2	T	C	11: 49,714,136 (GRCm39)	S298P	probably benign	Het
Gm6797	T	A	X: 8,508,004 (GRCm39)		noncoding transcript	Het
Gp1ba	C	T	11: 70,532,253 (GRCm39)	P673L	probably damaging	Het
Heatr5b	A	G	17: 79,120,698 (GRCm39)	L742P	probably damaging	Het
Hgd	A	G	16: 37,435,756 (GRCm39)	I115V	possibly damaging	Het
Hmgcll1	A	T	9: 76,037,613 (GRCm39)	D169V	probably damaging	Het
Ifi202b	A	T	1: 173,799,788 (GRCm39)	I231K	probably benign	Het
Itpripl1	A	G	2: 126,983,819 (GRCm39)	I101T	probably benign	Het
Kcnj9	A	G	1: 172,150,530 (GRCm39)	V361A	probably benign	Het
Map4k5	G	A	12: 69,863,152 (GRCm39)	T567M	probably damaging	Het
Ncapd3	A	G	9: 26,952,717 (GRCm39)	D82G	probably benign	Het
Nup58	A	T	14: 60,482,119 (GRCm39)		probably benign	Het
Or5d16	G	A	2: 87,773,490 (GRCm39)	L161F	probably benign	Het
Or8d2b	A	G	9: 38,789,051 (GRCm39)	E193G	probably damaging	Het
Or8g50	A	G	9: 39,648,642 (GRCm39)	Y177C	probably damaging	Het
Pfn2	C	T	3: 57,752,766 (GRCm39)	V3I	probably benign	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Pkhd1	C	T	1: 20,655,381 (GRCm39)		probably null	Het
Plekha2	A	C	8: 25,549,218 (GRCm39)	S189A	probably benign	Het
Prune2	T	C	19: 17,100,469 (GRCm39)	V1991A	probably benign	Het
Psg17	T	C	7: 18,548,380 (GRCm39)	T464A	probably benign	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rab8b	A	G	9: 66,760,249 (GRCm39)	M125T	possibly damaging	Het
Rbl1	T	A	2: 156,989,575 (GRCm39)	M1015L	possibly damaging	Het
Ryr3	T	A	2: 112,794,725 (GRCm39)	Q149L	probably benign	Het
Scn2a	C	A	2: 65,517,123 (GRCm39)		probably benign	Het
Sec61g	A	C	11: 16,454,722 (GRCm39)		probably benign	Het
Smcr8	G	A	11: 60,670,358 (GRCm39)	R502H	probably damaging	Het
Spag16	G	A	1: 69,962,817 (GRCm39)		probably benign	Het
Spink13	A	G	18: 62,741,241 (GRCm39)		probably benign	Het
Stk25	T	C	1: 93,551,111 (GRCm39)		probably benign	Het
Syngap1	A	G	17: 27,176,779 (GRCm39)	N314D	probably damaging	Het
Tek	T	C	4: 94,692,524 (GRCm39)	C160R	probably damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Tll2	T	G	19: 41,081,286 (GRCm39)	D712A	probably damaging	Het
Ttn	A	T	2: 76,800,047 (GRCm39)	I387N	probably damaging	Het
Ubr1	T	A	2: 120,756,510 (GRCm39)	K706*	probably null	Het
Upk2	A	T	9: 44,365,470 (GRCm39)	S33T	probably benign	Het
Usp47	T	G	7: 111,709,205 (GRCm39)	M1317R	possibly damaging	Het
Wdr19	T	C	5: 65,381,208 (GRCm39)	Y411H	probably damaging	Het
Zfp143	C	T	7: 109,674,928 (GRCm39)		probably benign	Het
Zfp473	T	C	7: 44,384,018 (GRCm39)	D105G	probably benign	Het
Zfp474	C	T	18: 52,771,814 (GRCm39)	Q156*	probably null	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
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
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

Posted On

2014-01-15