Mutagenetix > Incidental Mutation

Incidental Mutation 'R0669:Tmprss7'

218865

Institutional Source

Beutler Lab

Gene Symbol

Tmprss7

Ensembl Gene

ENSMUSG00000033177

Gene Name

transmembrane serine protease 7

Synonyms

B230219I23Rik, LOC385645, matriptase-3

MMRRC Submission

038854-MU

Accession Numbers

Essential gene?

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

Stock #

R0669 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

45476678-45514021 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 45498325 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 351 (C351*)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

AlphaFold

Q8BIK6

Predicted Effect

probably null
Transcript: ENSMUST00000114562
AA Change: C351*

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: C351*

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

Meta Mutation Damage Score

0.9718

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.7%
20x: 95.8%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	T	A	11: 72,089,671 (GRCm39)	H71L	possibly damaging	Het
Abcb11	C	A	2: 69,159,662 (GRCm39)	V10L	probably benign	Het
Abcb9	T	C	5: 124,200,950 (GRCm39)	T689A	probably damaging	Het
Adam22	A	G	5: 8,193,036 (GRCm39)		probably benign	Het
Adamts5	A	G	16: 85,696,614 (GRCm39)	I181T	probably benign	Het
Adamts9	A	T	6: 92,857,938 (GRCm39)	V231D	probably damaging	Het
Angptl6	C	T	9: 20,787,823 (GRCm39)	V197M	probably damaging	Het
Atp6v1c1	T	C	15: 38,677,772 (GRCm39)	V99A	probably benign	Het
Cacna2d3	A	G	14: 29,189,906 (GRCm39)	V110A	probably benign	Het
Ccdc32	A	G	2: 118,849,648 (GRCm39)		probably benign	Het
Cela3b	T	C	4: 137,155,841 (GRCm39)	H22R	probably benign	Het
Cep44	T	C	8: 56,994,008 (GRCm39)	T190A	possibly damaging	Het
Chsy1	T	C	7: 65,821,435 (GRCm39)	C557R	probably damaging	Het
Cntd1	A	G	11: 101,178,324 (GRCm39)	T308A	probably damaging	Het
Cutal	T	C	2: 34,775,878 (GRCm39)		probably benign	Het
Dipk1b	A	G	2: 26,524,878 (GRCm39)	T93A	probably benign	Het
Dna2	A	G	10: 62,792,768 (GRCm39)	D261G	probably damaging	Het
Dnhd1	T	A	7: 105,342,911 (GRCm39)	S1418R	probably benign	Het
Dnpep	A	G	1: 75,288,422 (GRCm39)		probably benign	Het
Dock7	A	T	4: 98,875,716 (GRCm39)	Y1075N	probably benign	Het
Eif2s1	C	T	12: 78,928,012 (GRCm39)		probably benign	Het
Ess2	T	C	16: 17,725,419 (GRCm39)	Y221C	probably damaging	Het
Fer1l6	T	C	15: 58,425,573 (GRCm39)		probably null	Het
Gm5592	T	C	7: 40,805,254 (GRCm39)		probably benign	Het
Ipp	A	G	4: 116,395,073 (GRCm39)	Y536C	probably damaging	Het
Krt72	T	C	15: 101,686,740 (GRCm39)	E402G	probably damaging	Het
Lamb3	T	C	1: 193,014,638 (GRCm39)	L599P	probably damaging	Het
Lingo2	T	A	4: 35,709,120 (GRCm39)	T287S	probably benign	Het
Lipo3	T	A	19: 33,537,025 (GRCm39)	T232S	probably benign	Het
Lrrc63	G	A	14: 75,363,550 (GRCm39)	H194Y	probably benign	Het
Map3k13	A	G	16: 21,725,274 (GRCm39)	T416A	probably benign	Het
Mcm3	A	T	1: 20,875,153 (GRCm39)		probably null	Het
Mms22l	T	C	4: 24,517,223 (GRCm39)	V258A	probably benign	Het
Mrpl46	A	T	7: 78,432,631 (GRCm39)	L49*	probably null	Het
Mrs2	T	C	13: 25,177,742 (GRCm39)	T369A	possibly damaging	Het
Mtrf1	T	A	14: 79,656,708 (GRCm39)	Y403*	probably null	Het
Muc20	G	A	16: 32,614,850 (GRCm39)	P176S	unknown	Het
Mup21	C	T	4: 62,068,964 (GRCm39)	C9Y	unknown	Het
Mup-ps21	A	T	4: 61,949,007 (GRCm39)		noncoding transcript	Het
Mybph	T	G	1: 134,125,081 (GRCm39)		probably null	Het
Mypn	A	G	10: 62,970,702 (GRCm39)		probably benign	Het
Nav2	T	C	7: 49,058,431 (GRCm39)	S124P	probably damaging	Het
Nrros	T	C	16: 31,962,241 (GRCm39)	D556G	probably damaging	Het
Numa1	A	C	7: 101,648,884 (GRCm39)	I872L	probably benign	Het
Or14c40	A	G	7: 86,313,544 (GRCm39)	I225V	possibly damaging	Het
Or2a7	C	T	6: 43,150,938 (GRCm39)	T6I	probably benign	Het
Or2h2c	G	C	17: 37,422,347 (GRCm39)	L176V	probably benign	Het
Or4c11	A	T	2: 88,695,272 (GRCm39)	M108L	probably benign	Het
Or5p52	T	A	7: 107,502,446 (GRCm39)	I174K	probably damaging	Het
Pcdhb9	A	T	18: 37,535,308 (GRCm39)	N434I	probably damaging	Het
Pigq	A	T	17: 26,155,736 (GRCm39)		probably null	Het
Plxna2	T	G	1: 194,471,145 (GRCm39)	V972G	probably damaging	Het
Psma3	G	A	12: 71,035,269 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,703,975 (GRCm39)	T1336A	probably benign	Het
Rdh7	T	C	10: 127,720,598 (GRCm39)	D258G	probably benign	Het
Serpinb6c	A	G	13: 34,083,252 (GRCm39)	I54T	probably damaging	Het
Sh2d7	A	T	9: 54,448,633 (GRCm39)	Y218F	probably benign	Het
Shfl	AGAGGAGGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGAGGAGGA	9: 20,785,013 (GRCm39)		probably benign	Het
Slc12a8	A	T	16: 33,371,274 (GRCm39)	I137F	possibly damaging	Het
Smarca2	T	C	19: 26,683,600 (GRCm39)	V1153A	possibly damaging	Het
Smc6	A	T	12: 11,339,165 (GRCm39)	I334L	probably benign	Het
Sorcs1	A	G	19: 50,230,380 (GRCm39)		probably benign	Het
Taar8c	A	G	10: 23,977,401 (GRCm39)	L137P	probably damaging	Het
Tcam1	A	T	11: 106,176,252 (GRCm39)	D326V	possibly damaging	Het
Telo2	A	T	17: 25,324,797 (GRCm39)	V461D	probably benign	Het
Trim66	T	A	7: 109,054,199 (GRCm39)		probably benign	Het
Ube2d1	G	T	10: 71,097,940 (GRCm39)	H32N	probably benign	Het
Ubp1	T	C	9: 113,793,736 (GRCm39)		probably benign	Het
Vma21	C	T	X: 70,863,763 (GRCm39)	T81M	probably damaging	Het
Vmn1r113	T	C	7: 20,521,345 (GRCm39)	S46P	probably benign	Het
Wars1	T	C	12: 108,831,944 (GRCm39)	S374G	probably benign	Het
Wbp1	T	C	6: 83,096,326 (GRCm39)	D277G	possibly damaging	Het
Zfp939	C	A	7: 39,123,209 (GRCm39)		noncoding transcript	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTAGGCAACTTGACACCAGAGGATG -3'
(R):5'- CCTAAAGGCCAGACTGCTTTCTCG -3'

Sequencing Primer
(F):5'- CTTGACACCAGAGGATGTAGAC -3'
(R):5'- AGACTGCTTTCTCGATATCTGGAC -3'

Posted On

2014-08-21