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: 0.094) 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
amalgum	UTSW	16	45683510	missense	probably benign	0.15
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
R7777:Tmprss7	UTSW	16	45660600	splice site	probably null
R8222:Tmprss7	UTSW	16	45658098	missense	probably damaging	0.99
T0975:Tmprss7	UTSW	16	45680733	missense	probably benign
Z1176:Tmprss7	UTSW	16	45662256	missense	probably damaging	1.00

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