Mutagenetix > Incidental Mutation

Incidental Mutation 'R6358:Tmprss7'

513365

Institutional Source

Beutler Lab

Gene Symbol

Tmprss7

Ensembl Gene

ENSMUSG00000033177

Gene Name

transmembrane serine protease 7

Synonyms

matriptase-3, B230219I23Rik, LOC385645

MMRRC Submission

044508-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R6358 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45656315-45693658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45669573 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 429 (M429L)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

AlphaFold

Q8BIK6

Predicted Effect

probably benign
Transcript: ENSMUST00000114562
AA Change: M429L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: M429L

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 40,826,681	V703A	probably benign	Het
Adgrv1	T	A	13: 81,414,583	Q5389L	probably damaging	Het
Aldh18a1	A	T	19: 40,577,678	I42N	possibly damaging	Het
Ankrd28	A	C	14: 31,710,864	C575W	probably damaging	Het
Car14	T	A	3: 95,898,175	T329S	possibly damaging	Het
Cdhr2	T	C	13: 54,736,546	F1298S	probably damaging	Het
Crhr2	A	G	6: 55,093,043	I341T	probably benign	Het
D5Ertd579e	T	A	5: 36,616,236		probably null	Het
Emilin1	A	G	5: 30,918,218	E601G	probably damaging	Het
Erbin	T	A	13: 103,845,565	Q456L	probably damaging	Het
Glp1r	T	C	17: 30,932,644	V405A	probably benign	Het
Gm10220	C	G	5: 26,120,305		probably null	Het
Gm2016	A	G	12: 87,877,000	E139G	unknown	Het
Gm527	A	T	12: 64,923,548	H219L	possibly damaging	Het
Gorasp2	T	A	2: 70,672,760	M1K	probably null	Het
H2-DMa	T	A	17: 34,137,984	L152H	probably damaging	Het
Hsd3b7	T	A	7: 127,801,537	H54Q	probably damaging	Het
Hspa12b	T	C	2: 131,137,066		probably benign	Het
Iars	C	A	13: 49,727,143	T1006K	possibly damaging	Het
Jmjd1c	T	C	10: 67,225,939	V1357A	probably benign	Het
Magi3	T	C	3: 104,050,952	M606V	probably damaging	Het
Mia	T	C	7: 27,180,978	D24G	probably benign	Het
Mon2	A	T	10: 123,013,504	L1297Q	probably damaging	Het
Musk	T	A	4: 58,373,171	S691T	possibly damaging	Het
Myo5c	A	T	9: 75,296,012	E1463D	possibly damaging	Het
Ndufs6	C	T	13: 73,320,319	G87D	probably damaging	Het
Npnt	C	T	3: 132,904,718	V415I	probably benign	Het
Ntsr2	A	G	12: 16,656,768	I266V	probably benign	Het
Olfr259	T	C	2: 87,108,434		probably benign	Het
Olfr736	A	T	14: 50,393,388	I211F	possibly damaging	Het
Pkmyt1	T	A	17: 23,733,656		probably null	Het
Polr1e	T	C	4: 45,026,813	L166P	probably damaging	Het
Ppib	T	G	9: 66,061,474	F48C	probably damaging	Het
Ppl	C	A	16: 5,087,929	E1501*	probably null	Het
Prpf8	T	C	11: 75,491,495	V384A	probably benign	Het
Ptch1	T	G	13: 63,513,689	S1212R	probably damaging	Het
Ralb	C	A	1: 119,476,005	D131Y	probably damaging	Het
Rfx4	T	A	10: 84,844,235	M141K	probably damaging	Het
Rgl2	T	A	17: 33,937,131		probably null	Het
Rpl27	A	G	11: 101,443,956		probably benign	Het
Sdc1	A	C	12: 8,791,297	T213P	probably damaging	Het
Setx	T	A	2: 29,171,348	N2256K	possibly damaging	Het
Shank2	A	G	7: 144,031,297	M12V	probably benign	Het
Slc22a28	T	A	19: 8,071,888	K332M	probably damaging	Het
Slf2	A	T	19: 44,935,425	H226L	probably benign	Het
Tbc1d10b	T	C	7: 127,203,412	S362G	probably benign	Het
Tbxas1	G	A	6: 38,952,112		probably benign	Het
Tctn1	A	G	5: 122,261,512	V83A	probably damaging	Het
Tgm4	A	G	9: 123,056,518	E375G	probably damaging	Het
Tmeff2	T	A	1: 51,133,114	Y247*	probably null	Het
Tmem167b	C	T	3: 108,558,895	R79H	possibly damaging	Het
Tnfsf18	T	A	1: 161,503,579	D99E	probably benign	Het
Tnrc18	A	T	5: 142,727,981	S2534T	probably damaging	Het
Tnxb	A	G	17: 34,678,994	E872G	probably damaging	Het
Tomm40l	C	T	1: 171,219,637	V237I	possibly damaging	Het
Trbv2	A	G	6: 41,047,902	Q84R	probably benign	Het
Tspan18	T	C	2: 93,209,874	R179G	probably benign	Het
Tspan8	G	T	10: 115,833,227	V56L	probably benign	Het
Zbtb22	T	C	17: 33,918,737	S619P	probably damaging	Het
Zfp2	A	T	11: 50,900,601	I205N	probably damaging	Het
Zfpm1	A	G	8: 122,337,111		probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- GCCTTGCTTGATCACTAATGG -3'
(R):5'- AACAGGACAGTGCTTGTTTTG -3'

Sequencing Primer
(F):5'- GCTCATTAGGTTTTCTACGGAAC -3'
(R):5'- GCAGAATTGCGACAAAAGTCC -3'

Posted On

2018-04-27