Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00157:Tmprss7'

847

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

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL00157

Quality Score

Status

Chromosome

Chromosomal Location

45656315-45693658 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45663368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 548 (R548G)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

AlphaFold

Q8BIK6

Predicted Effect

probably benign
Transcript: ENSMUST00000114562
AA Change: R548G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: R548G

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp4	A	G	7: 44,253,451	V331A	possibly damaging	Het
Casr	C	A	16: 36,495,810	V633F	probably damaging	Het
Cblb	T	G	16: 52,183,307	V716G	probably benign	Het
Cbln2	C	T	18: 86,716,384	Q156*	probably null	Het
Cnn1	G	T	9: 22,099,397	L14F	possibly damaging	Het
D830013O20Rik	T	C	12: 73,364,247		noncoding transcript	Het
Drd1	A	G	13: 54,053,878	S99P	probably damaging	Het
Fam35a	A	G	14: 34,268,625	V108A	probably benign	Het
Fat1	T	C	8: 44,951,670	V486A	possibly damaging	Het
Galnt7	T	C	8: 57,540,039	N416S	probably damaging	Het
Gm10735	T	C	13: 113,041,484		probably benign	Het
Gm8909	A	T	17: 36,165,354		probably null	Het
Jag2	T	C	12: 112,912,718	T790A	probably benign	Het
Klhdc1	T	A	12: 69,242,008	Y31N	possibly damaging	Het
Lama1	A	T	17: 67,815,928	M2769L	probably benign	Het
Mms19	A	G	19: 41,945,457		probably null	Het
Msrb2	C	A	2: 19,394,341	P172T	probably damaging	Het
Olfr228	T	C	2: 86,483,218	S175G	probably benign	Het
Olfr955	A	G	9: 39,470,243	V161A	probably benign	Het
Pcdhb9	T	A	18: 37,403,279	D775E	possibly damaging	Het
Pkhd1	T	C	1: 20,566,874		probably null	Het
Preb	A	T	5: 30,955,964	D375E	probably damaging	Het
Prkdc	T	C	16: 15,697,226	I1010T	probably damaging	Het
Rbp2	A	G	9: 98,498,897		probably null	Het
Sept9	A	G	11: 117,352,184	T66A	probably damaging	Het
Serpinb9b	A	T	13: 33,035,625	E178D	probably benign	Het
Tg	A	G	15: 66,847,166	Y258C	probably damaging	Het
Uba7	G	A	9: 107,979,111	A536T	probably benign	Het
Vmn2r114	G	A	17: 23,291,665	P614S	probably damaging	Het
Xpc	A	G	6: 91,492,264		probably benign	Het
Yrdc	T	C	4: 124,853,961	S86P	probably damaging	Het
Zbed6	G	T	1: 133,657,376	A741D	probably damaging	Het

Other mutations in Tmprss7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2011-07-12