Mutagenetix > Incidental Mutation

Incidental Mutation 'R1447:Tmprss13'

160711

Institutional Source

Beutler Lab

Gene Symbol

Tmprss13

Ensembl Gene

ENSMUSG00000037129

Gene Name

transmembrane protease, serine 13

Synonyms

MMRRC Submission

039502-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1447 (G1)

Quality Score

144

Status

Not validated

Chromosome

Chromosomal Location

45230398-45258879 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45239878 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 62 (P62Q)

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: P62Q

SMART Domains

Protein: ENSMUSP00000034597
Gene: ENSMUSG00000037129
AA Change: P62Q

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: 98.8%
3x: 97.6%
10x: 93.8%
20x: 84.2%

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts12	A	T	15: 11,263,447 (GRCm39)	D603V	probably benign	Het
Ahnak	A	T	19: 8,984,446 (GRCm39)	E1910V	probably damaging	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Amotl1	A	G	9: 14,467,038 (GRCm39)	V704A	probably benign	Het
Ankrd50	A	T	3: 38,509,691 (GRCm39)	V892E	probably damaging	Het
Aoc1	G	A	6: 48,883,176 (GRCm39)	V351I	probably benign	Het
Atp6v1b1	T	C	6: 83,734,924 (GRCm39)	V412A	possibly damaging	Het
Atp8b2	A	T	3: 89,851,477 (GRCm39)	I906N	probably damaging	Het
Bltp1	T	C	3: 37,019,735 (GRCm39)	L2048P	probably damaging	Het
Bnc2	A	G	4: 84,211,457 (GRCm39)	V304A	probably benign	Het
Btaf1	A	G	19: 36,969,854 (GRCm39)	D1176G	probably benign	Het
C1qtnf3	G	A	15: 10,952,735 (GRCm39)	G66R	probably damaging	Het
Ccdc162	T	C	10: 41,456,243 (GRCm39)	E360G	probably damaging	Het
Csmd1	C	A	8: 15,975,306 (GRCm39)	G2968*	probably null	Het
Cyp2j7	A	T	4: 96,083,530 (GRCm39)	F473L	possibly damaging	Het
Ddx24	T	C	12: 103,390,566 (GRCm39)	K142E	possibly damaging	Het
Dnah1	A	T	14: 31,028,855 (GRCm39)	M625K	probably benign	Het
Dnah9	A	T	11: 65,999,308 (GRCm39)	Y944N	possibly damaging	Het
Eef1akmt1	T	A	14: 57,803,441 (GRCm39)	K38*	probably null	Het
Enpp2	C	T	15: 54,782,994 (GRCm39)		probably null	Het
Eps8l1	A	G	7: 4,477,055 (GRCm39)	E508G	probably damaging	Het
Etaa1	A	T	11: 17,896,625 (GRCm39)	D497E	possibly damaging	Het
Fam181b	C	T	7: 92,729,368 (GRCm39)	A47V	probably damaging	Het
Fubp3	T	C	2: 31,490,559 (GRCm39)	V221A	probably damaging	Het
Golga2	T	C	2: 32,187,788 (GRCm39)	V191A	possibly damaging	Het
Haus5	G	T	7: 30,361,216 (GRCm39)		probably null	Het
Hydin	T	C	8: 111,249,798 (GRCm39)	L2247P	probably damaging	Het
Lama5	A	C	2: 179,827,671 (GRCm39)	I2197S	probably damaging	Het
Mapre3	C	T	5: 31,019,151 (GRCm39)		probably benign	Het
Mast2	C	A	4: 116,169,210 (GRCm39)	M733I	probably benign	Het
Mphosph10	A	T	7: 64,030,698 (GRCm39)	F514I	probably damaging	Het
Mterf3	A	G	13: 67,065,103 (GRCm39)	L266P	probably damaging	Het
Nup205	A	G	6: 35,192,120 (GRCm39)	D1114G	probably benign	Het
Or1ak2	T	G	2: 36,827,788 (GRCm39)	V219G	possibly damaging	Het
Or1e21	A	G	11: 73,344,700 (GRCm39)	F113L	probably benign	Het
Phf24	G	T	4: 42,938,232 (GRCm39)	E119*	probably null	Het
Pik3r5	G	A	11: 68,385,003 (GRCm39)	R636Q	probably benign	Het
Plaat3	G	A	19: 7,556,598 (GRCm39)	R133H	probably benign	Het
Rida	T	A	15: 34,488,757 (GRCm39)	Q45L	possibly damaging	Het
Ros1	T	C	10: 51,974,954 (GRCm39)	T1544A	possibly damaging	Het
Rpl7	T	A	1: 16,172,821 (GRCm39)	Y166F	probably benign	Het
Rps6ka5	A	G	12: 100,544,084 (GRCm39)	I338T	probably benign	Het
Scn3a	A	T	2: 65,300,324 (GRCm39)	N1347K	probably damaging	Het
Serpinb6d	A	G	13: 33,854,739 (GRCm39)	D238G	probably benign	Het
Sh3rf2	T	A	18: 42,234,736 (GRCm39)	I173N	probably benign	Het
Smarcc2	T	C	10: 128,305,660 (GRCm39)		probably null	Het
Thoc2l	T	C	5: 104,670,070 (GRCm39)	S1531P	possibly damaging	Het
Thsd4	T	C	9: 59,904,496 (GRCm39)	N567D	probably benign	Het
Tmprss7	T	C	16: 45,501,033 (GRCm39)	Q256R	probably benign	Het
Tssc4	A	G	7: 142,623,892 (GRCm39)	T67A	probably benign	Het
Tssk5	G	A	15: 76,256,304 (GRCm39)	Q372*	probably null	Het
Usp47	G	T	7: 111,673,775 (GRCm39)		probably null	Het
Utp15	A	G	13: 98,389,386 (GRCm39)	I304T	possibly damaging	Het
Vmn1r35	A	C	6: 66,655,890 (GRCm39)	V93G	probably benign	Het
Zfhx3	A	C	8: 109,675,076 (GRCm39)	Q2042P	probably benign	Het
Zfp532	C	A	18: 65,758,061 (GRCm39)	R665S	probably damaging	Het
Zfp976	G	T	7: 42,262,023 (GRCm39)	P605T	possibly damaging	Het
Zfpl1	A	G	19: 6,132,649 (GRCm39)	V125A	possibly 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
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'- TGTGGTCAACATCTTCCTTGAACCC -3'
(R):5'- AGAGCTTCCCTCTGCCCAAATCTG -3'

Sequencing Primer
(F):5'- GATGTGACCAAACCTATTGGCTC -3'
(R):5'- AAATCTGCCCTGGATCTCTG -3'

Posted On

2014-03-14