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: 0.087) 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
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
T0975:Tmprss7	UTSW	16	45680733	missense	probably benign
Z1176:Tmprss7	UTSW	16	45662256	missense	probably damaging	1.00

Posted On

2014-02-04