Mutagenetix > Incidental Mutation

Incidental Mutation 'R7777:Tmprss7'

628647

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

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R7777 (G1)

Quality Score

189.009

Status

Validated

Chromosome

Chromosomal Location

45656315-45693658 bp(-) (GRCm38)

Type of Mutation

splice site (40 bp from exon)

DNA Base Change (assembly)

A to G at 45660600 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

AlphaFold

Q8BIK6

Predicted Effect

probably null
Transcript: ENSMUST00000114562

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	C	T	4: 42,970,171	Q53*	probably null	Het
1700022I11Rik	T	C	4: 42,971,095	S143P	probably benign	Het
Adam6b	C	T	12: 113,490,138	P192S	possibly damaging	Het
Arhgef10	A	G	8: 14,945,373	T353A	probably damaging	Het
Cabyr	A	G	18: 12,744,771	D55G	probably damaging	Het
Dcaf4	T	C	12: 83,537,959	V322A	probably damaging	Het
Ephb2	T	A	4: 136,771,636	E44V	possibly damaging	Het
Fam3c	T	C	6: 22,328,574	I105V	probably benign	Het
Fras1	A	G	5: 96,752,904	D2994G	probably damaging	Het
Fryl	C	T	5: 73,071,298	D1697N	probably damaging	Het
Gapdh	A	T	6: 125,162,948	Y164*	probably null	Het
Gm4353	T	G	7: 116,083,763	Q194H	possibly damaging	Het
Ilvbl	T	A	10: 78,577,251		probably null	Het
Ism2	T	A	12: 87,286,884		probably null	Het
Jak2	C	T	19: 29,276,868	T196I	probably benign	Het
Lcor	T	G	19: 41,558,795	Y273D	probably benign	Het
Ldlrad4	G	T	18: 68,235,669	A66S	possibly damaging	Het
Lysmd4	T	A	7: 67,223,698	M27K	possibly damaging	Het
Muc3	G	A	5: 137,146,716		silent	Het
Olfr1023	A	G	2: 85,887,607	E269G	possibly damaging	Het
Olfr539	T	A	7: 140,667,941	I211N	probably benign	Het
Olfr747	A	T	14: 50,680,804	Y277N	probably damaging	Het
Oscp1	T	C	4: 126,064,981		probably null	Het
Pira2	A	T	7: 3,841,697	F445Y	probably benign	Het
Pkd2l2	C	A	18: 34,416,860	P186Q	probably damaging	Het
Plcb1	G	A	2: 135,220,757	G96R	possibly damaging	Het
Plcd3	G	C	11: 103,074,655	R535G	probably benign	Het
Plcg1	A	G	2: 160,754,603	M681V	possibly damaging	Het
Polr1b	C	A	2: 129,125,544	F952L	probably damaging	Het
Polrmt	A	T	10: 79,739,188	D836E	probably benign	Het
Pramef8	T	C	4: 143,417,761	Y226H	possibly damaging	Het
Prkag1	A	T	15: 98,814,597	I149N	probably damaging	Het
Prkci	A	T	3: 31,050,213	Q575L	possibly damaging	Het
Prss40	C	T	1: 34,552,765	W276*	probably null	Het
Ptprn	T	C	1: 75,252,302	D823G	possibly damaging	Het
Radil	A	C	5: 142,543,548	F131C	probably damaging	Het
Rif1	A	G	2: 52,116,356	I550V	probably benign	Het
Rmnd1	T	C	10: 4,411,713	E320G	probably damaging	Het
Sec31b	T	A	19: 44,523,773	K561*	probably null	Het
Tbx5	A	C	5: 119,883,167	T413P	probably benign	Het
Tnfaip8l2	T	C	3: 95,139,996	*185W	probably null	Het
Tpst2	A	G	5: 112,309,694	E296G	possibly damaging	Het
Ubn2	T	A	6: 38,490,753	S801T	probably damaging	Het
Usp34	A	G	11: 23,382,638	S1141G		Het
Uts2r	A	G	11: 121,161,453	N381S	probably benign	Het
Vmn2r44	G	T	7: 8,378,315	T193K	possibly damaging	Het
Wdr18	T	A	10: 79,966,050	M223K	probably benign	Het
Wdr64	T	C	1: 175,789,998	C715R	possibly damaging	Het
Zfp672	A	G	11: 58,317,255	F80S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTTTTGTAGGGCAGAGACATGAG -3'
(R):5'- ATGACATTGCCTTGCTGCAG -3'

Sequencing Primer
(F):5'- CCACTAGCAGCTTTTGGATGAAGAC -3'
(R):5'- TGCAGCTCAGCATAGCCTG -3'

Posted On

2020-06-01