Mutagenetix > Incidental Mutations

Incidental Mutation 'R6645:Tmprss7'

526095

Institutional Source

Beutler Lab

Gene Symbol

Tmprss7

Ensembl Gene

ENSMUSG00000033177

Gene Name

transmembrane serine protease 7

Synonyms

matriptase-3, B230219I23Rik, LOC385645

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R6645 (G1)

Quality Score

105.008

Status

Not validated

Chromosome

Chromosomal Location

45656315-45693658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45690963 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 17 (I17M)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114562
AA Change: I17M

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: I17M

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	T	A	1: 26,683,117	D994V	probably benign	Het
Anp32e	T	A	3: 95,937,102	F95I	probably damaging	Het
Arap1	A	G	7: 101,408,111	K628R	possibly damaging	Het
Arid4b	A	T	13: 14,120,152	E6D	probably damaging	Het
Atxn10	G	T	15: 85,376,703		probably null	Het
Ccdc170	A	G	10: 4,560,974	I678V	possibly damaging	Het
Ccdc18	T	A	5: 108,138,930	V110D	probably benign	Het
Cep85l	C	T	10: 53,301,672	E322K	probably benign	Het
Cilp	A	T	9: 65,279,305	Y894F	possibly damaging	Het
Ddx4	A	G	13: 112,641,174	S62P	possibly damaging	Het
Dph7	T	C	2: 24,965,651	V154A	probably benign	Het
Ephb6	T	C	6: 41,617,272	S579P	probably benign	Het
Fam53a	G	T	5: 33,600,784	Q332K	probably benign	Het
Fancm	A	G	12: 65,106,100	D1110G	probably damaging	Het
Fh1	A	T	1: 175,614,876	V136E	possibly damaging	Het
Greb1	G	T	12: 16,698,579	H1132Q	probably benign	Het
Jph1	A	G	1: 17,091,761	S226P	probably damaging	Het
Kbtbd8	C	T	6: 95,126,749	R460*	probably null	Het
Lama5	T	A	2: 180,179,670	N3059Y	probably damaging	Het
Lipc	G	A	9: 70,803,748	T289I	probably damaging	Het
Lrrc2	T	C	9: 110,970,107	W241R	probably damaging	Het
Mfn2	T	A	4: 147,894,612	I88F	probably damaging	Het
Mms19	G	C	19: 41,955,191	N366K	probably benign	Het
Myo15	A	G	11: 60,477,292	T293A	probably benign	Het
Ndfip2	T	A	14: 105,292,273	Y179N	probably damaging	Het
Notch4	A	G	17: 34,587,816	D1909G	probably benign	Het
Obscn	C	T	11: 59,085,262	S2013N	probably damaging	Het
Oca2	G	T	7: 56,314,774	A357S	probably benign	Het
Olfr902	T	C	9: 38,448,923	L17S	probably damaging	Het
Olfr955	T	A	9: 39,470,266	L153F	probably benign	Het
Pde7b	C	A	10: 20,610,566		probably null	Het
Ppef2	T	C	5: 92,230,461	N625S	probably benign	Het
Prom1	A	T	5: 44,047,514	L192Q	probably damaging	Het
Satb2	T	C	1: 56,797,007	I542V	possibly damaging	Het
Sgpp2	C	T	1: 78,360,162	T59M	probably damaging	Het
Skint6	T	C	4: 112,892,038	T782A	possibly damaging	Het
Slc13a4	G	T	6: 35,268,839	Q624K	probably benign	Het
Slc9a3	T	A	13: 74,164,172	H629Q	probably damaging	Het
Slitrk3	G	T	3: 73,049,861	A526E	probably benign	Het
Sptssa	T	C	12: 54,646,490	Y53C	probably damaging	Het
Srsf10	T	C	4: 135,863,563	S159P	possibly damaging	Het
Tbce	T	C	13: 14,005,229	T341A	probably benign	Het
Tdrd6	A	G	17: 43,624,532	L1875P	probably benign	Het
Tkt	G	A	14: 30,570,211	G425R	probably damaging	Het
Ttc21b	T	C	2: 66,236,377	S311G	probably benign	Het
Ubr5	A	G	15: 38,029,506	Y492H	probably damaging	Het
Ush2a	T	C	1: 188,523,331	I1535T	probably damaging	Het
Vmn2r17	A	T	5: 109,428,381	N373Y	probably damaging	Het
Vmn2r6	A	T	3: 64,556,876	V179E	probably damaging	Het
Vps13b	A	G	15: 35,910,305	E3405G	probably benign	Het
Wac	A	T	18: 7,973,523	Q212H	probably damaging	Het
Washc4	C	T	10: 83,572,195	R555*	probably null	Het
Zmat4	G	A	8: 23,797,401		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
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
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

Predicted Primers

PCR Primer
(F):5'- TACTGATGTAGAGCCATAGAAGTG -3'
(R):5'- GCCCTAAGATTCAGGTTTTCTG -3'

Sequencing Primer
(F):5'- CCATAGAAGTGTCCAGGCTGTGAC -3'
(R):5'- TGAGCTGCATACTGTACCTAAC -3'

Posted On

2018-06-22