Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01298:Tmprss7'

73192

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 #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

45476678-45514021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45484538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 541 (R541G)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

AlphaFold

Q8BIK6

Predicted Effect

probably benign
Transcript: ENSMUST00000114562
AA Change: R541G

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: R541G

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: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	G	T	10: 75,169,326 (GRCm39)	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,652,040 (GRCm39)	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,760,544 (GRCm39)	N186T	probably benign	Het
Ank2	A	G	3: 126,753,369 (GRCm39)	V304A	possibly damaging	Het
Atg3	T	C	16: 44,992,036 (GRCm39)	M88T	possibly damaging	Het
Baz1a	G	T	12: 55,001,594 (GRCm39)	P142Q	probably damaging	Het
Btbd1	G	T	7: 81,444,055 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,537,734 (GRCm39)	Y70H	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cyp7a1	A	T	4: 6,275,517 (GRCm39)	W19R	probably damaging	Het
Dock10	T	A	1: 80,508,962 (GRCm39)	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,738,920 (GRCm39)	D58Y	unknown	Het
Gm7168	A	T	17: 14,170,120 (GRCm39)	T496S	probably benign	Het
Gpc5	A	G	14: 115,636,600 (GRCm39)	S428G	probably benign	Het
Haus8	T	C	8: 71,705,757 (GRCm39)	E309G	probably damaging	Het
Ice1	A	G	13: 70,753,023 (GRCm39)	L1021P	possibly damaging	Het
Krtap14	A	T	16: 88,622,615 (GRCm39)	H121Q	probably benign	Het
Nwd1	T	C	8: 73,388,959 (GRCm39)	V170A	probably benign	Het
Or1j10	T	A	2: 36,267,460 (GRCm39)	M224K	probably benign	Het
Or6c3b	T	C	10: 129,527,898 (GRCm39)	Y4C	probably damaging	Het
Or8g24	G	A	9: 38,990,020 (GRCm39)	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,406,037 (GRCm39)	M96T	possibly damaging	Het
Pramel5	A	G	4: 143,997,732 (GRCm39)		probably benign	Het
Proc	T	C	18: 32,256,605 (GRCm39)	N354S	probably benign	Het
Prss40	T	G	1: 34,599,847 (GRCm39)	I47L	probably benign	Het
Togaram2	T	C	17: 72,023,508 (GRCm39)	V788A	possibly damaging	Het
Trbv19	T	C	6: 41,155,838 (GRCm39)	Y70H	probably damaging	Het
Ttk	C	T	9: 83,747,195 (GRCm39)	S678L	probably benign	Het
Vmn2r85	T	C	10: 130,254,690 (GRCm39)	T665A	probably benign	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
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

2013-10-07