Mutagenetix > Incidental Mutations

Incidental Mutation 'R4712:Tmprss7'

394799

Institutional Source

Beutler Lab

Gene Symbol

Tmprss7

Ensembl Gene

ENSMUSG00000033177

Gene Name

transmembrane serine protease 7

Synonyms

matriptase-3, B230219I23Rik, LOC385645

MMRRC Submission

041981-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R4712 (G1)

Quality Score

214

Status

Validated

Chromosome

Chromosomal Location

45656315-45693658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45690760 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 85 (I85N)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114562
AA Change: I85N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: I85N

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: ENSMUST00000178150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178323

Meta Mutation Damage Score

0.2262

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	G	A	13: 58,381,803	R332C	probably benign	Het
2900055J20Rik	G	T	18: 40,257,180		probably benign	Het
A4galt	G	T	15: 83,227,609	N324K	probably damaging	Het
Ahcyl1	A	G	3: 107,667,231		probably benign	Het
Atrnl1	T	A	19: 57,652,950	N343K	probably benign	Het
Batf2	C	A	19: 6,171,327	Q56K	probably benign	Het
Cfh	A	T	1: 140,108,536	V691D	probably damaging	Het
Chst10	T	C	1: 38,865,841	Y257C	probably damaging	Het
Dlg5	A	T	14: 24,177,983	L290Q	possibly damaging	Het
Dnah2	T	A	11: 69,516,590	T456S	possibly damaging	Het
Dnah6	T	C	6: 73,025,012		probably null	Het
Efhb	T	C	17: 53,451,669	K313R	probably damaging	Het
Eprs	T	A	1: 185,428,108	N1500K	probably benign	Het
Fbn1	T	C	2: 125,341,316	T1748A	probably benign	Het
Gfra2	T	A	14: 70,925,937	L87H	probably damaging	Het
Gfral	T	A	9: 76,193,445	Y237F	possibly damaging	Het
Gpr137b	T	C	13: 13,359,389	N361D	probably benign	Het
Gsdmc	G	T	15: 63,779,537	T272N	probably benign	Het
Hspe1	T	A	1: 55,089,110	S21R	probably benign	Het
Kif21a	A	T	15: 90,984,755	I483N	probably damaging	Het
Kif4-ps	T	C	12: 101,146,275		noncoding transcript	Het
Lpp	T	C	16: 24,761,657	V166A	possibly damaging	Het
Lrp2	A	C	2: 69,506,551	D1292E	probably damaging	Het
Manba	T	C	3: 135,544,814	Y401H	probably damaging	Het
Msh2	T	G	17: 87,678,385		probably benign	Het
Myef2	A	T	2: 125,088,837		probably benign	Het
Ncor1	T	A	11: 62,344,834	Q598L	probably damaging	Het
Obox3	A	G	7: 15,626,839	V125A	probably benign	Het
Olfr124	T	A	17: 37,805,700	L185*	probably null	Het
Olfr351	A	T	2: 36,860,369		probably null	Het
Olfr827	G	A	10: 130,210,422	T236I	possibly damaging	Het
Pcdh9	C	A	14: 93,888,631	L34F	probably damaging	Het
Pcdha3	A	T	18: 36,946,507	I101F	probably damaging	Het
Pced1b	A	G	15: 97,384,794	E238G	probably benign	Het
Pla2r1	A	T	2: 60,428,650	N1131K	probably damaging	Het
Prmt1	A	T	7: 44,981,636	S99R	probably damaging	Het
Rbp3	T	C	14: 33,960,658	S1116P	probably damaging	Het
Rhobtb2	T	C	14: 69,799,711	D88G	probably damaging	Het
Rngtt	A	G	4: 33,379,394	E432G	probably benign	Het
Sh3rf1	A	G	8: 61,361,759	T451A	probably benign	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Siva1	T	A	12: 112,646,902	D61E	probably benign	Het
Skor1	A	C	9: 63,139,573		probably null	Het
Slc20a1	A	G	2: 129,199,691		probably benign	Het
Slc2a7	A	G	4: 150,168,469	E522G	probably benign	Het
Tpx2	T	A	2: 152,885,038	D408E	probably damaging	Het
Ulk4	A	T	9: 121,244,370	I551N	probably benign	Het
Zfat	A	T	15: 68,110,475		probably null	Het
Zfp101	C	A	17: 33,394,483		probably null	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
R0332:Tmprss7	UTSW	16	45680638	missense	probably benign	0.01
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
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'- GAAATGGTGGACAATTCTGATGGC -3'
(R):5'- ACATCTCCATCCAGGTGGTCAG -3'

Sequencing Primer
(F):5'- GGACAATTCTGATGGCTTTCC -3'
(R):5'- TCAGTGTCCCAGGGAAGCTAC -3'

Posted On

2016-06-17