Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03291:Tmprss7'

415921

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 #

IGL03291

Quality Score

Status

Chromosome

Chromosomal Location

45476678-45514021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45501111 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 230 (D230G)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

AlphaFold

Q8BIK6

Predicted Effect

probably benign
Transcript: ENSMUST00000114562
AA Change: D230G

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

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: D230G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178150

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178323

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ano1	T	A	7: 144,175,412 (GRCm39)	E502V	probably damaging	Het
Atic	T	C	1: 71,610,081 (GRCm39)	V364A	probably benign	Het
Cfap44	A	T	16: 44,227,674 (GRCm39)	H125L	possibly damaging	Het
Ctnna2	T	A	6: 76,950,695 (GRCm39)	E227V	probably damaging	Het
Ctsf	A	G	19: 4,909,662 (GRCm39)	I378V	probably benign	Het
Eya1	C	T	1: 14,254,572 (GRCm39)		probably null	Het
Fat2	C	T	11: 55,153,421 (GRCm39)	R3597H	probably benign	Het
Gdpd5	T	C	7: 99,109,328 (GRCm39)		probably benign	Het
Glcci1	T	A	6: 8,579,678 (GRCm39)	I293K	probably damaging	Het
Gm16503	T	A	4: 147,625,535 (GRCm39)	Y10N	unknown	Het
Gm5930	A	T	14: 44,568,905 (GRCm39)	I239N	possibly damaging	Het
Grm5	T	C	7: 87,780,004 (GRCm39)	L1148P	probably damaging	Het
Kmt2e	T	A	5: 23,704,289 (GRCm39)	L1161I	probably damaging	Het
Megf9	C	T	4: 70,406,387 (GRCm39)	V260I	probably benign	Het
Mme	T	A	3: 63,253,525 (GRCm39)	D456E	probably benign	Het
Mup8	T	A	4: 60,221,950 (GRCm39)	E61V	probably damaging	Het
Olfml1	A	G	7: 107,189,436 (GRCm39)	D167G	probably damaging	Het
Or51ah3	T	A	7: 103,210,119 (GRCm39)	M145K	possibly damaging	Het
Piezo2	T	C	18: 63,154,379 (GRCm39)	K2467E	probably damaging	Het
Plscr1	T	A	9: 92,148,923 (GRCm39)	F254L	probably damaging	Het
Prol1	A	T	5: 88,476,379 (GRCm39)	K256N	unknown	Het
Rapgef4	A	T	2: 72,026,047 (GRCm39)	L339F	probably damaging	Het
Slc27a2	T	C	2: 126,406,670 (GRCm39)	I118T	probably benign	Het
Smim7	A	T	8: 73,323,838 (GRCm39)	F19L	possibly damaging	Het
Svil	T	A	18: 5,056,150 (GRCm39)	L428*	probably null	Het
Tcof1	T	C	18: 60,962,133 (GRCm39)	T699A	possibly damaging	Het
Thsd7b	T	A	1: 129,688,092 (GRCm39)	S668T	possibly damaging	Het
Tyw1	A	G	5: 130,328,834 (GRCm39)	D540G	probably damaging	Het
Zfp763	A	G	17: 33,238,860 (GRCm39)	V95A	probably damaging	Het

Other mutations in Tmprss7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00157:Tmprss7	APN	16	45,483,731 (GRCm39)	missense	probably benign
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
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

2016-08-02