Mutagenetix > Incidental Mutation

Incidental Mutation 'R1493:Tmprss13'

165559

Institutional Source

Beutler Lab

Gene Symbol

Tmprss13

Ensembl Gene

ENSMUSG00000037129

Gene Name

transmembrane protease, serine 13

Synonyms

MMRRC Submission

039544-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1493 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45230398-45258879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45247405 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 256 (T256A)

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
AA Change: T256A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000034597
Gene: ENSMUSG00000037129
AA Change: T256A

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: 99.0%
3x: 98.2%
10x: 96.2%
20x: 92.9%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	C	11: 58,767,544 (GRCm39)	S14P	probably damaging	Het
Abca15	A	T	7: 119,981,513 (GRCm39)	D989V	probably benign	Het
Abcg8	T	C	17: 85,004,107 (GRCm39)	S472P	probably damaging	Het
Ablim2	T	C	5: 35,966,605 (GRCm39)	F178S	probably damaging	Het
Adprm	A	G	11: 66,932,702 (GRCm39)	V69A	possibly damaging	Het
Ankrd27	C	T	7: 35,307,790 (GRCm39)	S343L	probably benign	Het
Arfgef3	A	G	10: 18,506,627 (GRCm39)	S833P	probably damaging	Het
Arhgap42	T	G	9: 9,030,798 (GRCm39)	E339D	probably benign	Het
Axdnd1	T	A	1: 156,174,271 (GRCm39)	M799L	probably benign	Het
Cars2	A	T	8: 11,567,817 (GRCm39)		probably null	Het
Cd7	T	C	11: 120,928,967 (GRCm39)	T95A	probably damaging	Het
Cep290	A	T	10: 100,398,043 (GRCm39)	T2200S	probably benign	Het
Cep44	A	G	8: 56,985,870 (GRCm39)	S299P	probably damaging	Het
Cfap58	C	T	19: 47,976,943 (GRCm39)	H731Y	probably damaging	Het
Ehbp1	T	A	11: 21,956,866 (GRCm39)	E1204V	probably damaging	Het
Fgd5	A	G	6: 91,964,612 (GRCm39)	K124E	probably benign	Het
Folh1	T	C	7: 86,410,938 (GRCm39)	D268G	probably damaging	Het
Gm4559	A	T	7: 141,828,050 (GRCm39)	C17*	probably null	Het
Helz	A	G	11: 107,504,751 (GRCm39)	I413V	probably benign	Het
Hexd	A	G	11: 121,112,093 (GRCm39)	I438V	probably benign	Het
Hrh1	G	A	6: 114,457,838 (GRCm39)	G373D	probably damaging	Het
Hs3st5	G	A	10: 36,708,870 (GRCm39)	G135D	probably damaging	Het
Iqcf6	T	C	9: 106,504,641 (GRCm39)	Y102H	probably benign	Het
Kmt2a	A	T	9: 44,758,202 (GRCm39)	S1124R	probably damaging	Het
Map3k5	A	G	10: 19,904,859 (GRCm39)	D387G	probably damaging	Het
Morc2a	A	G	11: 3,628,557 (GRCm39)	N337D	probably benign	Het
Musk	C	T	4: 58,354,003 (GRCm39)	A352V	probably benign	Het
Myef2l	A	G	3: 10,153,944 (GRCm39)	K238E	probably damaging	Het
Nans	G	A	4: 46,500,761 (GRCm39)	E218K	probably damaging	Het
Niban1	T	A	1: 151,581,841 (GRCm39)	V479D	probably damaging	Het
Ninl	T	G	2: 150,822,015 (GRCm39)	D29A	probably damaging	Het
Nod1	A	G	6: 54,921,041 (GRCm39)	F426L	probably damaging	Het
Notch4	T	A	17: 34,786,656 (GRCm39)	C265*	probably null	Het
Nsd3	A	G	8: 26,203,407 (GRCm39)	D1307G	probably benign	Het
Or51h1	T	C	7: 102,308,220 (GRCm39)	L64P	probably damaging	Het
Or52e18	T	A	7: 104,609,709 (GRCm39)	T77S	probably damaging	Het
Orai3	G	A	7: 127,373,077 (GRCm39)	V193M	possibly damaging	Het
Prkag1	T	C	15: 98,711,551 (GRCm39)	Y271C	probably benign	Het
Rfc4	T	C	16: 22,936,758 (GRCm39)	I116V	probably damaging	Het
Ric1	T	C	19: 29,557,249 (GRCm39)	Y445H	probably benign	Het
Rnmt	G	A	18: 68,446,778 (GRCm39)	D268N	probably damaging	Het
Rsph1	C	T	17: 31,484,873 (GRCm39)	G139D	probably damaging	Het
Sez6l2	C	A	7: 126,560,984 (GRCm39)	P483Q	probably damaging	Het
Sgo2b	A	G	8: 64,379,889 (GRCm39)	L981P	probably damaging	Het
Shmt2	A	G	10: 127,354,812 (GRCm39)		probably null	Het
Sorbs3	T	C	14: 70,430,076 (GRCm39)	T353A	possibly damaging	Het
Stk25	T	C	1: 93,553,322 (GRCm39)	T260A	probably benign	Het
Tasor	A	G	14: 27,171,926 (GRCm39)	S425G	probably damaging	Het
Thap12	A	G	7: 98,364,645 (GRCm39)	H271R	probably benign	Het
Tpo	A	T	12: 30,181,808 (GRCm39)	I29N	possibly damaging	Het
Trpc2	A	T	7: 101,739,783 (GRCm39)	N569I	probably damaging	Het
Unc13c	T	C	9: 73,546,350 (GRCm39)	T1607A	probably benign	Het
Vldlr	A	G	19: 27,218,691 (GRCm39)	N514S	probably benign	Het
Vps18	A	G	2: 119,127,613 (GRCm39)	Y812C	probably damaging	Het
Zfp692	A	T	11: 58,204,866 (GRCm39)	I409F	probably damaging	Het
Zfp735	G	A	11: 73,601,305 (GRCm39)	C83Y	possibly damaging	Het
Zic1	A	G	9: 91,246,809 (GRCm39)	S88P	probably damaging	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
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'- AGAGCTACTGAGCCAGTTGTAGGG -3'
(R):5'- TTAGCGATTAGGAGGCGGGATCAC -3'

Sequencing Primer
(F):5'- CCAGTTGTAGGGCTGGTAG -3'
(R):5'- GAGCTTTTAAGCCCAAGCTG -3'

Posted On

2014-03-28