Mutagenetix > Incidental Mutations

Incidental Mutation 'R0332:Tmprss7'

35951

Institutional Source

Beutler Lab

Gene Symbol

Tmprss7

Ensembl Gene

ENSMUSG00000033177

Gene Name

transmembrane serine protease 7

Synonyms

matriptase-3, B230219I23Rik, LOC385645

MMRRC Submission

038541-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R0332 (G1)

Quality Score

216

Status

Validated

Chromosome

Chromosomal Location

45656315-45693658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45680638 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 267 (V267M)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000114562]

Predicted Effect

probably benign
Transcript: ENSMUST00000114562
AA Change: V267M

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: V267M

Domain	Start	End	E-Value	Type
low complexity region	28	55	N/A	INTRINSIC
transmembrane domain	63	85	N/A	INTRINSIC
Pfam:SEA	94	198	4.6e-23	PFAM
CUB	233	346	9.35e-4	SMART
Pfam:CUB	351	454	3e-7	PFAM
LDLa	469	506	5.63e-13	SMART
LDLa	510	541	5.56e-2	SMART
LDLa	544	582	8.95e-7	SMART
Tryp_SPc	591	821	7.17e-85	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000170951

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178323

Meta Mutation Damage Score

0.0924

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1520401A03Rik	A	T	17: 23,714,604		probably benign	Het
Aggf1	T	C	13: 95,369,446	E211G	probably damaging	Het
Aox3	A	G	1: 58,142,751	N299S	probably benign	Het
Arhgef7	T	A	8: 11,824,701	Y777*	probably null	Het
Atad1	A	G	19: 32,702,534		probably benign	Het
Bop1	A	G	15: 76,455,987	Y130H	probably damaging	Het
Ccar2	G	T	14: 70,141,935		probably benign	Het
Ccdc110	G	T	8: 45,942,964	E631*	probably null	Het
Cfap54	C	T	10: 93,035,457	D634N	probably damaging	Het
Cldn8	C	T	16: 88,562,358		silent	Het
Cstf3	G	T	2: 104,646,467		probably null	Het
Dgkq	T	C	5: 108,655,099		probably benign	Het
Dsp	T	A	13: 38,182,228	L546*	probably null	Het
Eif3g	A	T	9: 20,897,984		probably benign	Het
Fam228a	T	A	12: 4,735,018	I38F	probably damaging	Het
Fto	A	T	8: 91,401,890		probably benign	Het
Gcnt4	G	T	13: 96,946,510	V105L	probably benign	Het
Gm10644	A	G	8: 83,933,581	L45S	possibly damaging	Het
Gm7275	A	T	16: 48,073,769		noncoding transcript	Het
Gm7579	T	C	7: 142,212,375	S173P	unknown	Het
Gpatch8	T	C	11: 102,481,842	N290S	unknown	Het
Hspb8	T	A	5: 116,409,473	D150V	probably damaging	Het
Ifitm1	T	C	7: 140,968,453		probably benign	Het
Ifnl2	T	C	7: 28,509,331	T99A	possibly damaging	Het
Ints4	T	C	7: 97,517,718	L577P	probably damaging	Het
Jph4	T	C	14: 55,114,010	E183G	possibly damaging	Het
Loxhd1	T	A	18: 77,383,830		probably null	Het
Mug1	G	A	6: 121,849,897		probably null	Het
Nlrp2	C	A	7: 5,317,630	C836F	probably damaging	Het
Nup210l	G	T	3: 90,132,309		probably benign	Het
Olfr18	A	G	9: 20,314,056	L288S	probably benign	Het
Olfr555	A	T	7: 102,659,465	I215F	probably damaging	Het
Optn	C	T	2: 5,024,115	G526R	probably damaging	Het
Phykpl	A	G	11: 51,586,675	E98G	probably benign	Het
Pikfyve	A	G	1: 65,264,399	N1648D	probably benign	Het
Plppr5	A	T	3: 117,671,932	R277S	probably benign	Het
Ppp1r36	T	A	12: 76,427,903	F86L	probably benign	Het
Pqlc2	C	T	4: 139,300,299	S244N	possibly damaging	Het
Ptgis	A	T	2: 167,214,833	L278Q	probably damaging	Het
Rasa2	A	T	9: 96,606,176	F90Y	probably damaging	Het
Setd3	T	C	12: 108,107,579	K480E	probably benign	Het
Snx2	T	C	18: 53,212,911	F389L	probably benign	Het
Sulf2	G	A	2: 166,089,199	T296M	probably benign	Het
Supt16	A	T	14: 52,181,157	H214Q	probably damaging	Het
Tbx4	A	T	11: 85,898,530	M12L	probably benign	Het
Tlk1	A	T	2: 70,745,565		probably null	Het
Tmub2	G	A	11: 102,288,348	R291H	probably damaging	Het
Trpm2	A	T	10: 77,947,988	V217E	probably damaging	Het
Try10	T	A	6: 41,354,220	V10E	probably benign	Het
Ttn	A	G	2: 76,765,882	V20229A	probably benign	Het
Ttn	A	C	2: 76,778,194		probably null	Het
Uhrf1bp1	T	C	17: 27,893,294		probably null	Het
Usf2	T	A	7: 30,955,179	M199L	possibly damaging	Het
Usp37	A	T	1: 74,495,710	S26T	possibly damaging	Het
Vrk1	G	C	12: 106,058,625	Q253H	probably benign	Het
Wdr72	A	T	9: 74,157,252		probably null	Het
Xrra1	T	C	7: 99,876,242	F123L	probably damaging	Het
Zfhx3	T	C	8: 108,946,623	I1435T	probably damaging	Het
Zfp712	T	A	13: 67,040,813	H550L	probably damaging	Het

Other mutations in Tmprss7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Tmprss7	APN	16	45663368	missense	probably benign
IGL00985:Tmprss7	APN	16	45662322	missense	probably damaging	1.00
IGL01115:Tmprss7	APN	16	45660789	missense	probably damaging	1.00
IGL01296:Tmprss7	APN	16	45684574	missense	probably damaging	0.98
IGL01298:Tmprss7	APN	16	45664175	missense	probably benign	0.00
IGL01459:Tmprss7	APN	16	45663343	missense	probably benign	0.00
IGL01785:Tmprss7	APN	16	45680634	missense	probably damaging	1.00
IGL02313:Tmprss7	APN	16	45681593	missense	probably damaging	1.00
IGL02893:Tmprss7	APN	16	45669528	missense	possibly damaging	0.65
IGL02940:Tmprss7	APN	16	45656455	missense	probably damaging	1.00
IGL03291:Tmprss7	APN	16	45680748	missense	probably benign
fusion	UTSW	16	45690760	missense	probably damaging	1.00
steely	UTSW	16	45667606	nonsense	probably null
P0019:Tmprss7	UTSW	16	45680733	missense	probably benign
R0051:Tmprss7	UTSW	16	45673939	missense	probably damaging	1.00
R0051:Tmprss7	UTSW	16	45673939	missense	probably damaging	1.00
R0092:Tmprss7	UTSW	16	45667596	missense	probably damaging	1.00
R0178:Tmprss7	UTSW	16	45690843	missense	probably damaging	1.00
R0219:Tmprss7	UTSW	16	45656457	missense	probably damaging	1.00
R0607:Tmprss7	UTSW	16	45669551	missense	probably damaging	0.97
R0669:Tmprss7	UTSW	16	45677962	nonsense	probably null
R0783:Tmprss7	UTSW	16	45667606	nonsense	probably null
R1447:Tmprss7	UTSW	16	45680670	missense	probably benign
R1538:Tmprss7	UTSW	16	45679390	missense	probably benign	0.44
R1564:Tmprss7	UTSW	16	45662153	critical splice donor site	probably null
R1912:Tmprss7	UTSW	16	45656548	nonsense	probably null
R1932:Tmprss7	UTSW	16	45684593	nonsense	probably null
R2257:Tmprss7	UTSW	16	45686333	missense	possibly damaging	0.47
R3840:Tmprss7	UTSW	16	45660832	nonsense	probably null
R4232:Tmprss7	UTSW	16	45656573	missense	probably damaging	1.00
R4332:Tmprss7	UTSW	16	45686327	missense	probably benign	0.00
R4685:Tmprss7	UTSW	16	45679348	missense	probably benign
R4712:Tmprss7	UTSW	16	45690760	missense	probably damaging	1.00
R4822:Tmprss7	UTSW	16	45663316	missense	probably damaging	1.00
R5368:Tmprss7	UTSW	16	45660889	missense	probably damaging	1.00
R5386:Tmprss7	UTSW	16	45669528	missense	possibly damaging	0.65
R5468:Tmprss7	UTSW	16	45656448	missense	probably damaging	1.00
R5526:Tmprss7	UTSW	16	45660904	missense	probably damaging	1.00
R5719:Tmprss7	UTSW	16	45686430	missense	probably damaging	0.99
R6149:Tmprss7	UTSW	16	45673905	nonsense	probably null
R6235:Tmprss7	UTSW	16	45658122	missense	probably benign	0.03
R6358:Tmprss7	UTSW	16	45669573	missense	probably benign	0.00
R6645:Tmprss7	UTSW	16	45690963	missense	possibly damaging	0.90
R7187:Tmprss7	UTSW	16	45677954	missense	possibly damaging	0.50
R7222:Tmprss7	UTSW	16	45690893	missense	probably benign
R7634:Tmprss7	UTSW	16	45663274	missense	probably benign	0.00
R7747:Tmprss7	UTSW	16	45683510	missense	probably benign	0.15
R7776:Tmprss7	UTSW	16	45667651	missense	probably benign	0.03
T0975:Tmprss7	UTSW	16	45680733	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTTTCACCAGCAACTAGAGAGCC -3'
(R):5'- CTGAACCGAATCCCGATATGCAGAC -3'

Sequencing Primer
(F):5'- AACTAGAGAGCCTTCAGCTTG -3'
(R):5'- TAGGTTCTGTCACCAAACGAG -3'

Posted On

2013-05-09