Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01785:Tmprss7'

153774

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: 0.106) question?

Stock #

IGL01785

Quality Score

Status

Chromosome

Chromosomal Location

45656315-45693658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45680634 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 268 (G268D)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000114562
AA Change: G268D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: G268D

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	A	5: 8,915,058	Y309*	probably null	Het
Abhd18	G	A	3: 40,905,904	R42Q	probably damaging	Het
Ano3	T	A	2: 110,682,715	Q645L	probably damaging	Het
Clasp1	T	A	1: 118,497,736	L272Q	possibly damaging	Het
Clec1b	A	G	6: 129,403,562	D115G	probably damaging	Het
Clec2e	A	T	6: 129,093,401		probably benign	Het
Corin	T	C	5: 72,339,876	N532S	probably damaging	Het
Csn1s2b	A	G	5: 87,809,913	K2R	possibly damaging	Het
Mcm8	A	G	2: 132,827,948	D314G	probably benign	Het
Mga	T	A	2: 119,902,912	D80E	probably damaging	Het
Msh4	A	G	3: 153,857,507	L744P	probably damaging	Het
Myof	A	T	19: 37,980,423	L348*	probably null	Het
Olfr1348	T	C	7: 6,501,900	I109V	probably benign	Het
Olfr530	T	A	7: 140,373,125	M162L	probably benign	Het
Otud3	T	C	4: 138,896,897	D278G	probably benign	Het
Pdpr	C	A	8: 111,129,656	H670Q	probably damaging	Het
Phf21b	C	A	15: 84,808,061		probably benign	Het
Polr3a	G	A	14: 24,484,120	Q106*	probably null	Het
Ptprm	G	T	17: 66,685,623	N1366K	probably damaging	Het
Slc10a5	G	A	3: 10,335,199	P134S	probably benign	Het
Slc30a9	A	G	5: 67,346,238		probably benign	Het
Stat6	T	A	10: 127,657,227	V576D	probably damaging	Het
Tmem132d	T	C	5: 127,984,315	I408V	probably benign	Het
Tmem50a	T	C	4: 134,898,447	E153G	probably damaging	Het
Tmod4	A	G	3: 95,125,618	T22A	probably benign	Het
Tor1a	A	G	2: 30,963,703		probably null	Het
Ttc29	T	C	8: 78,282,341	L280P	probably damaging	Het
Tusc5	G	A	11: 76,680,466	V103I	probably benign	Het
Usp20	A	G	2: 31,017,163	E594G	probably benign	Het
Vmn1r31	A	C	6: 58,472,724	M3R	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
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
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
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
T0975:Tmprss7	UTSW	16	45680733	missense	probably benign
Z1176:Tmprss7	UTSW	16	45662256	missense	not run

Posted On

2014-02-04