Mutagenetix > Incidental Mutation

Incidental Mutation 'R8871:Tmprss13'

676295

Institutional Source

Beutler Lab

Gene Symbol

Tmprss13

Ensembl Gene

ENSMUSG00000037129

Gene Name

transmembrane protease, serine 13

Synonyms

MMRRC Submission

068685-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45230398-45258879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45249704 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 347 (H347L)

Ref Sequence

ENSEMBL: ENSMUSP00000034597 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000034597
AA Change: H347L

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000034597
Gene: ENSMUSG00000037129
AA Change: H347L

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.3%

Validation Efficiency

99% (76/77)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,248,071 (GRCm39)	M2606R	probably benign	Het
Abcg5	C	T	17: 84,990,295 (GRCm39)	E3K	probably benign	Het
Adam20	A	C	8: 41,248,601 (GRCm39)	H237P	probably damaging	Het
Alg3	T	C	16: 20,424,684 (GRCm39)	Y361C	probably damaging	Het
Ano8	A	T	8: 71,931,944 (GRCm39)	Y752N	probably benign	Het
AW551984	A	T	9: 39,500,998 (GRCm39)	L759*	probably null	Het
Bdp1	A	C	13: 100,186,175 (GRCm39)	V1759G	probably damaging	Het
Bicdl2	C	A	17: 23,885,777 (GRCm39)	Q273K	probably damaging	Het
Cc2d2a	A	T	5: 43,857,285 (GRCm39)	T491S	possibly damaging	Het
Cdkl2	A	G	5: 92,164,989 (GRCm39)	S545P	possibly damaging	Het
Ceacam5	T	A	7: 17,494,827 (GRCm39)	I945K	probably benign	Het
Celf1	A	G	2: 90,840,840 (GRCm39)	Y369C	probably damaging	Het
Cmtm1	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG	8: 105,036,334 (GRCm39)		probably null	Het
Col14a1	T	G	15: 55,245,958 (GRCm39)	D487E	unknown	Het
Crybg3	T	C	16: 59,378,519 (GRCm39)	N912D	probably benign	Het
Cstl1	A	G	2: 148,596,554 (GRCm39)	T86A	probably damaging	Het
Dixdc1	C	T	9: 50,595,096 (GRCm39)	V482M	possibly damaging	Het
Dmbt1	T	C	7: 130,718,597 (GRCm39)	Y1773H	unknown	Het
Dock4	T	C	12: 40,795,730 (GRCm39)	I849T	probably benign	Het
Fbln2	A	T	6: 91,233,215 (GRCm39)		probably null	Het
Fbxo16	A	G	14: 65,531,348 (GRCm39)	E84G	probably damaging	Het
Fras1	T	A	5: 96,855,257 (GRCm39)	V1922D	probably benign	Het
G6pc3	A	G	11: 102,082,896 (GRCm39)	H85R	probably damaging	Het
Galc	A	T	12: 98,212,543 (GRCm39)	N197K	probably damaging	Het
Galnt12	T	G	4: 47,108,582 (GRCm39)		probably null	Het
Gm10220	T	A	5: 26,322,863 (GRCm39)	Q183L	probably benign	Het
Gxylt2	A	G	6: 100,760,109 (GRCm39)	T215A	probably damaging	Het
Hnrnpf	T	G	6: 117,900,811 (GRCm39)	S32A	probably benign	Het
Hspa1l	T	C	17: 35,197,799 (GRCm39)	Y613H	probably benign	Het
Il1r2	T	A	1: 40,144,424 (GRCm39)	V37D	probably benign	Het
Itga11	C	A	9: 62,668,823 (GRCm39)	Y693*	probably null	Het
Itgax	T	A	7: 127,735,223 (GRCm39)	F459L	probably damaging	Het
Jph1	A	G	1: 17,067,719 (GRCm39)	V656A	possibly damaging	Het
Kcnn4	A	T	7: 24,083,500 (GRCm39)	I394F	possibly damaging	Het
Kdelr3	T	A	15: 79,410,044 (GRCm39)	Y176*	probably null	Het
Kif13a	T	C	13: 46,984,279 (GRCm39)	D162G	probably damaging	Het
Klhdc8b	G	A	9: 108,326,871 (GRCm39)	P164S	probably damaging	Het
Lmbrd1	A	T	1: 24,783,435 (GRCm39)	Q357L	probably damaging	Het
Lrrc37a	T	C	11: 103,347,375 (GRCm39)	M3107V	unknown	Het
Mllt3	ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT	4: 87,759,552 (GRCm39)		probably benign	Het
Muc16	C	A	9: 18,567,344 (GRCm39)	G1725V	unknown	Het
Myo5c	T	C	9: 75,185,585 (GRCm39)	S983P	probably benign	Het
Naip1	G	A	13: 100,580,146 (GRCm39)	H217Y	probably damaging	Het
Nlrc3	T	C	16: 3,781,968 (GRCm39)		probably benign	Het
Nrl	A	T	14: 55,758,184 (GRCm39)	L181Q	probably damaging	Het
Olig1	T	C	16: 91,067,545 (GRCm39)	*261R	probably null	Het
Or12k5	T	C	2: 36,895,060 (GRCm39)	T189A	probably benign	Het
Or2l13b	T	C	16: 19,349,536 (GRCm39)	I45V		Het
Or8j3c	T	C	2: 86,253,697 (GRCm39)	M108V	probably benign	Het
Oscp1	T	A	4: 125,952,535 (GRCm39)	L21Q	probably damaging	Het
Oxct1	G	A	15: 4,064,763 (GRCm39)	V34I	probably benign	Het
Pdzph1	A	G	17: 59,195,033 (GRCm39)	L1074P	probably damaging	Het
Pkd1l1	T	A	11: 8,900,503 (GRCm39)	S463C		Het
Pnpla3	G	A	15: 84,063,509 (GRCm39)	E296K	probably benign	Het
Prss35	T	G	9: 86,637,244 (GRCm39)	L5V	possibly damaging	Het
Rbck1	T	C	2: 152,164,096 (GRCm39)	E336G	possibly damaging	Het
Rgl2	G	A	17: 34,153,974 (GRCm39)	R460Q	probably damaging	Het
Rmi1	T	A	13: 58,557,156 (GRCm39)	N468K	probably benign	Het
Rptor	T	A	11: 119,494,751 (GRCm39)	I39N	probably benign	Het
S1pr1	A	G	3: 115,505,628 (GRCm39)	F322S	probably damaging	Het
Scgb1b10	T	A	7: 31,800,544 (GRCm39)	Y44*	probably null	Het
Setx	A	G	2: 29,038,114 (GRCm39)	D1533G	probably benign	Het
Sf3b1	A	G	1: 55,029,508 (GRCm39)	Y1165H	probably damaging	Het
Sgcz	A	T	8: 38,420,103 (GRCm39)	Y50N	probably damaging	Het
Sh3gl2	C	A	4: 85,305,817 (GRCm39)	P227Q		Het
She	T	C	3: 89,759,795 (GRCm39)		probably null	Het
Slc9a4	T	C	1: 40,642,015 (GRCm39)	I328T	probably damaging	Het
Sort1	G	A	3: 108,262,887 (GRCm39)		probably null	Het
Srebf1	A	G	11: 60,091,595 (GRCm39)	S977P	probably benign	Het
Srsf9	T	C	5: 115,468,712 (GRCm39)	V116A	probably damaging	Het
Tex15	G	A	8: 34,066,992 (GRCm39)	V2141I	possibly damaging	Het
Trpv4	A	G	5: 114,768,511 (GRCm39)	F519S	probably benign	Het
Trrap	A	G	5: 144,758,649 (GRCm39)	T2159A	probably benign	Het
Vmn1r36	A	T	6: 66,693,442 (GRCm39)	Y144*	probably null	Het
Vmn2r10	A	G	5: 109,146,899 (GRCm39)	I463T	possibly damaging	Het
Vps13a	T	A	19: 16,641,186 (GRCm39)	N2312I	probably damaging	Het
Wdr81	A	T	11: 75,343,919 (GRCm39)	Y449*	probably null	Het
Zfhx3	A	G	8: 109,676,867 (GRCm39)	D2639G	possibly damaging	Het
Zfp120	A	G	2: 149,959,995 (GRCm39)	V131A	probably benign	Het
Zfp574	G	T	7: 24,780,562 (GRCm39)	C528F	probably damaging	Het
Zfp947	A	T	17: 22,364,695 (GRCm39)	N326K	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
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
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'- GTGCCACATTAGACTCTTTGGAC -3'
(R):5'- AAGCTCTGAACCAAACTGGC -3'

Sequencing Primer
(F):5'- GCCACATTAGACTCTTTGGACAAAGG -3'
(R):5'- GCATTCACACTTAGTCTTTTGAGCAG -3'

Posted On

2021-07-15