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

B230219I23Rik, LOC385645, matriptase-3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

IGL00157

Quality Score

Status

Chromosome

Chromosomal Location

45476678-45514021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45483731 bp (GRCm39)

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: 43,902,875 (GRCm39)	V331A	possibly damaging	Het
Casr	C	A	16: 36,316,172 (GRCm39)	V633F	probably damaging	Het
Cblb	T	G	16: 52,003,670 (GRCm39)	V716G	probably benign	Het
Cbln2	C	T	18: 86,734,509 (GRCm39)	Q156*	probably null	Het
Cnn1	G	T	9: 22,010,693 (GRCm39)	L14F	possibly damaging	Het
D830013O20Rik	T	C	12: 73,411,021 (GRCm39)		noncoding transcript	Het
Drd1	A	G	13: 54,207,897 (GRCm39)	S99P	probably damaging	Het
Fat1	T	C	8: 45,404,707 (GRCm39)	V486A	possibly damaging	Het
Galnt7	T	C	8: 57,993,073 (GRCm39)	N416S	probably damaging	Het
Gm10735	T	C	13: 113,178,018 (GRCm39)		probably benign	Het
H2-T5	A	T	17: 36,476,246 (GRCm39)		probably null	Het
Jag2	T	C	12: 112,876,338 (GRCm39)	T790A	probably benign	Het
Klhdc1	T	A	12: 69,288,782 (GRCm39)	Y31N	possibly damaging	Het
Lama1	A	T	17: 68,122,923 (GRCm39)	M2769L	probably benign	Het
Mms19	A	G	19: 41,933,896 (GRCm39)		probably null	Het
Msrb2	C	A	2: 19,399,152 (GRCm39)	P172T	probably damaging	Het
Or8g35	A	G	9: 39,381,539 (GRCm39)	V161A	probably benign	Het
Or8k41	T	C	2: 86,313,562 (GRCm39)	S175G	probably benign	Het
Pcdhb9	T	A	18: 37,536,332 (GRCm39)	D775E	possibly damaging	Het
Pkhd1	T	C	1: 20,637,098 (GRCm39)		probably null	Het
Preb	A	T	5: 31,113,308 (GRCm39)	D375E	probably damaging	Het
Prkdc	T	C	16: 15,515,090 (GRCm39)	I1010T	probably damaging	Het
Rbp2	A	G	9: 98,380,950 (GRCm39)		probably null	Het
Septin9	A	G	11: 117,243,010 (GRCm39)	T66A	probably damaging	Het
Serpinb9b	A	T	13: 33,219,608 (GRCm39)	E178D	probably benign	Het
Shld2	A	G	14: 33,990,582 (GRCm39)	V108A	probably benign	Het
Tg	A	G	15: 66,719,015 (GRCm39)	Y258C	probably damaging	Het
Uba7	G	A	9: 107,856,310 (GRCm39)	A536T	probably benign	Het
Vmn2r114	G	A	17: 23,510,639 (GRCm39)	P614S	probably damaging	Het
Xpc	A	G	6: 91,469,246 (GRCm39)		probably benign	Het
Yrdc	T	C	4: 124,747,754 (GRCm39)	S86P	probably damaging	Het
Zbed6	G	T	1: 133,585,114 (GRCm39)	A741D	probably damaging	Het

Other mutations in Tmprss7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00985:Tmprss7	APN	16	45,482,685 (GRCm39)	missense	probably damaging	1.00
IGL01115:Tmprss7	APN	16	45,481,152 (GRCm39)	missense	probably damaging	1.00
IGL01296:Tmprss7	APN	16	45,504,937 (GRCm39)	missense	probably damaging	0.98
IGL01298:Tmprss7	APN	16	45,484,538 (GRCm39)	missense	probably benign	0.00
IGL01459:Tmprss7	APN	16	45,483,706 (GRCm39)	missense	probably benign	0.00
IGL01785:Tmprss7	APN	16	45,500,997 (GRCm39)	missense	probably damaging	1.00
IGL02313:Tmprss7	APN	16	45,501,956 (GRCm39)	missense	probably damaging	1.00
IGL02893:Tmprss7	APN	16	45,489,891 (GRCm39)	missense	possibly damaging	0.65
IGL02940:Tmprss7	APN	16	45,476,818 (GRCm39)	missense	probably damaging	1.00
IGL03291:Tmprss7	APN	16	45,501,111 (GRCm39)	missense	probably benign
amalgum	UTSW	16	45,503,873 (GRCm39)	missense	probably benign	0.15
fusion	UTSW	16	45,511,123 (GRCm39)	missense	probably damaging	1.00
steely	UTSW	16	45,487,969 (GRCm39)	nonsense	probably null
P0019:Tmprss7	UTSW	16	45,501,096 (GRCm39)	missense	probably benign
R0051:Tmprss7	UTSW	16	45,494,302 (GRCm39)	missense	probably damaging	1.00
R0051:Tmprss7	UTSW	16	45,494,302 (GRCm39)	missense	probably damaging	1.00
R0092:Tmprss7	UTSW	16	45,487,959 (GRCm39)	missense	probably damaging	1.00
R0178:Tmprss7	UTSW	16	45,511,206 (GRCm39)	missense	probably damaging	1.00
R0219:Tmprss7	UTSW	16	45,476,820 (GRCm39)	missense	probably damaging	1.00
R0332:Tmprss7	UTSW	16	45,501,001 (GRCm39)	missense	probably benign	0.01
R0607:Tmprss7	UTSW	16	45,489,914 (GRCm39)	missense	probably damaging	0.97
R0669:Tmprss7	UTSW	16	45,498,325 (GRCm39)	nonsense	probably null
R0783:Tmprss7	UTSW	16	45,487,969 (GRCm39)	nonsense	probably null
R1447:Tmprss7	UTSW	16	45,501,033 (GRCm39)	missense	probably benign
R1538:Tmprss7	UTSW	16	45,499,753 (GRCm39)	missense	probably benign	0.44
R1564:Tmprss7	UTSW	16	45,482,516 (GRCm39)	critical splice donor site	probably null
R1912:Tmprss7	UTSW	16	45,476,911 (GRCm39)	nonsense	probably null
R1932:Tmprss7	UTSW	16	45,504,956 (GRCm39)	nonsense	probably null
R2257:Tmprss7	UTSW	16	45,506,696 (GRCm39)	missense	possibly damaging	0.47
R3840:Tmprss7	UTSW	16	45,481,195 (GRCm39)	nonsense	probably null
R4232:Tmprss7	UTSW	16	45,476,936 (GRCm39)	missense	probably damaging	1.00
R4332:Tmprss7	UTSW	16	45,506,690 (GRCm39)	missense	probably benign	0.00
R4685:Tmprss7	UTSW	16	45,499,711 (GRCm39)	missense	probably benign
R4712:Tmprss7	UTSW	16	45,511,123 (GRCm39)	missense	probably damaging	1.00
R4822:Tmprss7	UTSW	16	45,483,679 (GRCm39)	missense	probably damaging	1.00
R5368:Tmprss7	UTSW	16	45,481,252 (GRCm39)	missense	probably damaging	1.00
R5386:Tmprss7	UTSW	16	45,489,891 (GRCm39)	missense	possibly damaging	0.65
R5468:Tmprss7	UTSW	16	45,476,811 (GRCm39)	missense	probably damaging	1.00
R5526:Tmprss7	UTSW	16	45,481,267 (GRCm39)	missense	probably damaging	1.00
R5719:Tmprss7	UTSW	16	45,506,793 (GRCm39)	missense	probably damaging	0.99
R6149:Tmprss7	UTSW	16	45,494,268 (GRCm39)	nonsense	probably null
R6235:Tmprss7	UTSW	16	45,478,485 (GRCm39)	missense	probably benign	0.03
R6358:Tmprss7	UTSW	16	45,489,936 (GRCm39)	missense	probably benign	0.00
R6645:Tmprss7	UTSW	16	45,511,326 (GRCm39)	missense	possibly damaging	0.90
R7187:Tmprss7	UTSW	16	45,498,317 (GRCm39)	missense	possibly damaging	0.50
R7222:Tmprss7	UTSW	16	45,511,256 (GRCm39)	missense	probably benign
R7634:Tmprss7	UTSW	16	45,483,637 (GRCm39)	missense	probably benign	0.00
R7747:Tmprss7	UTSW	16	45,503,873 (GRCm39)	missense	probably benign	0.15
R7776:Tmprss7	UTSW	16	45,488,014 (GRCm39)	missense	probably benign	0.03
R7777:Tmprss7	UTSW	16	45,480,963 (GRCm39)	splice site	probably null
R8222:Tmprss7	UTSW	16	45,478,461 (GRCm39)	missense	probably damaging	0.99
R8983:Tmprss7	UTSW	16	45,481,263 (GRCm39)	missense	probably damaging	0.98
R9472:Tmprss7	UTSW	16	45,501,052 (GRCm39)	missense	probably benign	0.09
R9485:Tmprss7	UTSW	16	45,498,282 (GRCm39)	nonsense	probably null
R9502:Tmprss7	UTSW	16	45,484,555 (GRCm39)	missense	probably damaging	1.00
R9516:Tmprss7	UTSW	16	45,484,564 (GRCm39)	missense	probably benign	0.00
T0975:Tmprss7	UTSW	16	45,501,096 (GRCm39)	missense	probably benign
Z1176:Tmprss7	UTSW	16	45,482,619 (GRCm39)	missense	probably damaging	1.00

Posted On

2011-07-12