Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01115:Tmprss7'

52942

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: 0.095) question?

Stock #

IGL01115

Quality Score

Status

Chromosome

Chromosomal Location

45476678-45514021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45481152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 678 (D678G)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

AlphaFold

Q8BIK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000114562
AA Change: D678G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: D678G

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	T	C	17: 46,621,352 (GRCm39)	T934A	probably benign	Het
Ankzf1	T	C	1: 75,169,259 (GRCm39)	L55P	probably damaging	Het
Aoc1	T	C	6: 48,883,131 (GRCm39)	S336P	probably damaging	Het
Bmper	T	C	9: 23,310,985 (GRCm39)		probably benign	Het
Capza2	A	G	6: 17,654,122 (GRCm39)	N58S	probably damaging	Het
Cdca2	A	G	14: 67,952,146 (GRCm39)	V75A	probably damaging	Het
Chmp7	A	G	14: 69,958,772 (GRCm39)	S181P	probably damaging	Het
Colq	A	G	14: 31,267,085 (GRCm39)		probably benign	Het
Dennd5b	A	G	6: 148,911,246 (GRCm39)		probably benign	Het
Has3	A	G	8: 107,605,320 (GRCm39)	T509A	probably benign	Het
Hsh2d	T	C	8: 72,954,463 (GRCm39)	S282P	probably damaging	Het
Impg2	C	T	16: 56,079,803 (GRCm39)	P536S	possibly damaging	Het
Naip1	T	A	13: 100,580,228 (GRCm39)		probably null	Het
Napb	T	C	2: 148,549,089 (GRCm39)	Y111C	probably damaging	Het
Or8w1	T	C	2: 87,465,728 (GRCm39)	D121G	probably damaging	Het
Osmr	A	G	15: 6,876,682 (GRCm39)		probably benign	Het
Pcdh10	A	G	3: 45,347,210 (GRCm39)	T1002A	probably damaging	Het
Plcg2	T	C	8: 118,284,068 (GRCm39)	W122R	probably damaging	Het
Prpf19	C	T	19: 10,877,567 (GRCm39)	T204M	probably damaging	Het
Ptbp1	T	A	10: 79,695,796 (GRCm39)		probably benign	Het
Ptpre	T	A	7: 135,272,493 (GRCm39)	D402E	probably damaging	Het
Siglec1	T	C	2: 130,916,422 (GRCm39)	N1176S	probably benign	Het
Son	A	G	16: 91,456,346 (GRCm39)	T1698A	probably benign	Het
Spata6l	T	C	19: 28,921,842 (GRCm39)		probably null	Het
Speer2	C	T	16: 69,658,539 (GRCm39)	W42*	probably null	Het
Taf5	T	C	19: 47,063,521 (GRCm39)	V357A	probably benign	Het
Tctn1	A	G	5: 122,402,270 (GRCm39)	S55P	probably benign	Het
Tmem115	T	A	9: 107,411,781 (GRCm39)	L35Q	probably damaging	Het
Tmem30c	T	A	16: 57,096,480 (GRCm39)		probably benign	Het
Ugt1a7c	A	T	1: 88,022,967 (GRCm39)	Q42L	probably damaging	Het
Unc13b	T	A	4: 43,258,492 (GRCm39)	V4099E	probably damaging	Het
Usp36	G	A	11: 118,176,786 (GRCm39)	L11F	probably damaging	Het
Zfp955a	T	A	17: 33,461,554 (GRCm39)	K193*	probably null	Het
Zranb2	T	C	3: 157,252,328 (GRCm39)		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
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

2013-06-21