Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02313:Tmprss7'

287892

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: 0.074) question?

Stock #

IGL02313

Quality Score

Status

Chromosome

Chromosomal Location

45656315-45693658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45681593 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 223 (Y223C)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

AlphaFold

Q8BIK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000114562
AA Change: Y223C

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

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: Y223C

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13c	T	A	3: 157,947,934	N136K	probably damaging	Het
Aph1b	A	T	9: 66,790,673		probably benign	Het
Atf7ip	A	G	6: 136,606,720	K1250E	probably damaging	Het
Atp8b2	T	C	3: 89,949,853	N400S	probably damaging	Het
Brca2	C	A	5: 150,538,661	S630Y	probably damaging	Het
Chd6	T	A	2: 160,965,675	E1873V	probably damaging	Het
Chrna10	T	C	7: 102,112,029		probably benign	Het
Col6a3	A	G	1: 90,811,606	L907P	probably damaging	Het
Cxcr6	A	G	9: 123,810,705	N264S	probably damaging	Het
Dgkg	A	G	16: 22,570,230		probably benign	Het
Dpysl2	T	G	14: 66,824,390	M256L	probably benign	Het
Dsp	G	T	13: 38,196,523	E1816*	probably null	Het
Fam129c	A	G	8: 71,602,860	R305G	possibly damaging	Het
Fam13b	T	C	18: 34,454,656	K530E	probably damaging	Het
Fam49a	A	G	12: 12,364,751	T248A	possibly damaging	Het
Fastk	T	C	5: 24,443,092	H242R	probably damaging	Het
Fbxw28	A	T	9: 109,337,352	H145Q	possibly damaging	Het
Heatr6	T	C	11: 83,778,892	L910P	probably damaging	Het
Hmcn2	A	G	2: 31,453,605	T4642A	possibly damaging	Het
Hspg2	A	G	4: 137,508,389	T167A	probably benign	Het
Igsf10	A	G	3: 59,330,690	L690P	probably benign	Het
Klhdc10	G	A	6: 30,439,866		probably null	Het
Krt31	A	G	11: 100,048,396	Y232H	probably damaging	Het
Lsm3	A	G	6: 91,516,088		probably benign	Het
Mfn2	T	A	4: 147,885,490	I375F	probably damaging	Het
Mfrp	A	T	9: 44,102,874	I180F	probably damaging	Het
Msh3	T	C	13: 92,349,312	E168G	possibly damaging	Het
Naa16	A	T	14: 79,384,668	V77D	probably damaging	Het
Nav2	T	C	7: 49,558,773	S1570P	probably damaging	Het
Numa1	C	T	7: 102,000,232	R1057*	probably null	Het
Nup210l	G	A	3: 90,122,792	A271T	probably damaging	Het
Ogdh	T	C	11: 6,355,400	V965A	probably damaging	Het
Olfr63	C	A	17: 33,269,665	Q314K	probably benign	Het
Olfr734	A	T	14: 50,320,016	V273E	probably damaging	Het
Olfr818	A	G	10: 129,945,903	L53P	probably damaging	Het
Olfr836	A	T	9: 19,121,375	N140I	probably damaging	Het
Olfr916	T	A	9: 38,658,066	I109F	probably damaging	Het
Pdp2	A	T	8: 104,594,899	Q460L	probably benign	Het
Pex5l	T	C	3: 32,992,992	T270A	probably benign	Het
Pkp4	C	T	2: 59,310,254	Q435*	probably null	Het
Prss32	G	A	17: 23,856,122	V149M	probably benign	Het
Riox2	C	A	16: 59,489,417	P378Q	probably benign	Het
Rita1	C	T	5: 120,609,793	A147T	probably damaging	Het
Rsph4a	T	A	10: 33,905,525	S124T	possibly damaging	Het
Sdccag8	G	A	1: 176,824,755	R24H	possibly damaging	Het
Slc22a1	C	A	17: 12,675,500	G54*	probably null	Het
Slc24a5	C	T	2: 125,085,647		probably benign	Het
Tex101	C	T	7: 24,668,325	V201M	probably damaging	Het
Trpc4ap	T	C	2: 155,650,468	E382G	probably damaging	Het
Uggt1	A	T	1: 36,184,484	Y575N	probably damaging	Het
Vmn2r70	T	C	7: 85,565,168	I259V	probably damaging	Het
Xpo1	T	A	11: 23,277,065	N131K	probably damaging	Het
Zfp579	C	T	7: 4,994,433	V160M	probably benign	Het
Zfp697	A	G	3: 98,425,450	D64G	probably benign	Het
Zfp974	T	C	7: 27,912,253	T16A	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
IGL01785:Tmprss7	APN	16	45680634	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
R9485:Tmprss7	UTSW	16	45677919	nonsense	probably null
R9502:Tmprss7	UTSW	16	45664192	missense	probably damaging	1.00
R9516:Tmprss7	UTSW	16	45664201	missense	probably benign	0.00
T0975:Tmprss7	UTSW	16	45680733	missense	probably benign
Z1176:Tmprss7	UTSW	16	45662256	missense	probably damaging	1.00

Posted On

2015-04-16