Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01296:Tmprss7'

73131

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmprss7

Ensembl Gene

ENSMUSG00000033177

Gene Name

transmembrane serine protease 7

Synonyms

matriptase-3, B230219I23Rik, LOC385645

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

IGL01296

Quality Score

Status

Chromosome

Chromosomal Location

45656315-45693658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45684574 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 151 (V151A)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

AlphaFold

Q8BIK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000114562
AA Change: V151A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: V151A

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	A	G	1: 66,841,705	S301P	probably damaging	Het
Adam34	A	G	8: 43,651,141	V489A	possibly damaging	Het
Adcy8	G	A	15: 64,783,779	T617I	probably damaging	Het
Aggf1	T	C	13: 95,353,971	D605G	probably damaging	Het
Atp10a	T	A	7: 58,813,625	F969I	probably benign	Het
Becn1	A	T	11: 101,291,451	N97K	probably damaging	Het
Cd4	G	A	6: 124,879,378	T50I	probably benign	Het
Crtac1	A	T	19: 42,284,213	C578S	probably damaging	Het
Dcp1b	A	G	6: 119,215,358	K412E	probably damaging	Het
Dlg2	T	A	7: 91,940,059	I327N	probably damaging	Het
Ehf	T	A	2: 103,268,155		probably null	Het
Elavl4	T	C	4: 110,206,612	N264S	probably benign	Het
Enpp2	A	T	15: 54,875,669	I406N	probably damaging	Het
F10	A	T	8: 13,055,383	Y316F	possibly damaging	Het
Fam20a	A	G	11: 109,685,351	I194T	possibly damaging	Het
Fcgbp	T	C	7: 28,089,647	V546A	probably benign	Het
Fras1	A	T	5: 96,673,698	Q1438L	probably null	Het
Gm43638	T	C	5: 87,460,592	I463V	probably benign	Het
Gm597	T	C	1: 28,777,056	I632V	probably benign	Het
H2-T10	T	C	17: 36,120,710	D84G	probably benign	Het
Itpr1	T	C	6: 108,399,361	F1262L	probably damaging	Het
Lama1	A	G	17: 67,745,051	N335D	probably benign	Het
Lasp1	T	C	11: 97,836,190	V246A	probably damaging	Het
Lrrk2	A	T	15: 91,683,142	I135L	probably benign	Het
Malrd1	G	A	2: 16,101,957		probably null	Het
Mctp2	T	C	7: 72,228,526	K268R	probably benign	Het
Nbea	A	T	3: 56,031,536	H710Q	probably benign	Het
Notch3	G	A	17: 32,166,757	R13C	unknown	Het
Ogfod1	A	T	8: 94,055,671		probably benign	Het
Olfr1465	A	G	19: 13,314,126	L53P	probably damaging	Het
Olfr339	A	G	2: 36,421,704	Y102C	probably benign	Het
Olfr924	T	C	9: 38,848,252	I46T	probably damaging	Het
Pgm3	A	G	9: 86,561,879	V324A	probably damaging	Het
Ppfia2	A	T	10: 106,858,207	I681F	probably damaging	Het
Prss23	T	C	7: 89,509,887	K325E	possibly damaging	Het
Psmd7	T	A	8: 107,586,617		probably benign	Het
Rfx2	T	A	17: 56,808,317	M1L	possibly damaging	Het
Rpa1	T	C	11: 75,312,315	Y418C	probably damaging	Het
Rps6kc1	C	T	1: 190,773,678	R1029H	probably damaging	Het
Sept10	A	G	10: 59,166,600	V391A	probably benign	Het
Skint6	A	G	4: 113,236,440	F169L	probably benign	Het
Slc44a4	C	T	17: 34,921,698	T289I	probably benign	Het
Srl	T	C	16: 4,497,682	D32G	probably damaging	Het
Stxbp3-ps	T	A	19: 9,557,892		noncoding transcript	Het
Sult1b1	T	C	5: 87,514,956	D295G	probably benign	Het
Trmo	A	G	4: 46,387,589	L84P	probably damaging	Het
Vmn2r98	T	A	17: 19,065,185	I89N	probably damaging	Het
Zcwpw1	G	A	5: 137,796,799	A86T	probably benign	Het
Zkscan16	A	G	4: 58,956,690	H324R	possibly 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
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
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
R8983:Tmprss7	UTSW	16	45660900	missense	probably damaging	0.98
R9472:Tmprss7	UTSW	16	45680689	missense	probably benign	0.09
T0975:Tmprss7	UTSW	16	45680733	missense	probably benign
Z1176:Tmprss7	UTSW	16	45662256	missense	probably damaging	1.00

Posted On

2013-10-07