Mutagenetix > Incidental Mutation

Incidental Mutation 'R9502:Tmprss7'

717683

Institutional Source

Beutler Lab

Gene Symbol

Tmprss7

Ensembl Gene

ENSMUSG00000033177

Gene Name

transmembrane serine protease 7

Synonyms

B230219I23Rik, LOC385645, matriptase-3

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R9502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45476678-45514021 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45484555 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 535 (D535V)

Ref Sequence

ENSEMBL: ENSMUSP00000110209 (fasta)

Gene Model

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

AlphaFold

Q8BIK6

Predicted Effect

probably damaging
Transcript: ENSMUST00000114562
AA Change: D535V

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

SMART Domains

Protein: ENSMUSP00000110209
Gene: ENSMUSG00000033177
AA Change: D535V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 100 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019D03Rik	T	A	1: 52,964,662 (GRCm39)	H22L	possibly damaging	Het
Abca2	C	A	2: 25,326,895 (GRCm39)	Y590*	probably null	Het
Acot1	G	T	12: 84,061,353 (GRCm39)	E220*	probably null	Het
Acsl5	T	G	19: 55,271,744 (GRCm39)	I292S	probably benign	Het
Acvr1b	C	T	15: 101,092,710 (GRCm39)	H118Y	probably benign	Het
Aggf1	A	G	13: 95,507,450 (GRCm39)	C112R	probably benign	Het
Ap2a2	T	A	7: 141,178,689 (GRCm39)	N105K	probably benign	Het
Aste1	G	A	9: 105,273,880 (GRCm39)	C40Y	probably benign	Het
Carmil1	T	C	13: 24,323,357 (GRCm39)	T232A	probably benign	Het
Ccser2	A	G	14: 36,631,090 (GRCm39)	F649L	probably benign	Het
Cdcp3	T	C	7: 130,836,815 (GRCm39)	V419A	possibly damaging	Het
Cenpf	G	A	1: 189,388,978 (GRCm39)	T1618I	probably damaging	Het
Ces5a	G	A	8: 94,262,308 (GRCm39)	Q10*	probably null	Het
Cfap20dc	A	G	14: 8,659,452 (GRCm38)	F48L	probably damaging	Het
Cfh	A	T	1: 140,040,320 (GRCm39)	L592Q	possibly damaging	Het
Chchd6	T	C	6: 89,396,763 (GRCm39)	H216R	probably damaging	Het
Chrm5	A	T	2: 112,311,040 (GRCm39)	H25Q	probably damaging	Het
Clasp2	C	T	9: 113,737,866 (GRCm39)	T1080I	probably benign	Het
Clic6	G	T	16: 92,295,588 (GRCm39)	G83C	probably damaging	Het
Coro1c	A	T	5: 113,988,781 (GRCm39)	S187R	probably damaging	Het
Cyp2a4	A	G	7: 26,008,004 (GRCm39)	D137G	probably benign	Het
Ddhd1	G	T	14: 45,894,679 (GRCm39)	Q264K	possibly damaging	Het
Dhdds	A	T	4: 133,707,497 (GRCm39)	Y235N	probably damaging	Het
Ephb1	T	C	9: 101,918,486 (GRCm39)	E341G	probably damaging	Het
Fam53b	T	C	7: 132,361,740 (GRCm39)	D96G	probably benign	Het
Fcgbpl1	A	G	7: 27,836,891 (GRCm39)	D270G	probably benign	Het
Fermt1	G	T	2: 132,781,388 (GRCm39)	R67S	probably benign	Het
Fmnl2	C	A	2: 52,998,312 (GRCm39)	P559H	unknown	Het
Foxo3	C	T	10: 42,073,021 (GRCm39)	V499M	probably damaging	Het
Frmpd2	T	A	14: 33,227,404 (GRCm39)	F261I	probably benign	Het
Garem2	T	A	5: 30,321,750 (GRCm39)	L703Q	possibly damaging	Het
Ggct	T	A	6: 54,962,872 (GRCm39)	I180F	possibly damaging	Het
Gigyf2	T	A	1: 87,331,446 (GRCm39)	I198K	unknown	Het
Gucy2d	T	C	7: 98,107,942 (GRCm39)	F700L	probably benign	Het
Gucy2g	T	A	19: 55,198,816 (GRCm39)	I776F	probably damaging	Het
H2ac8	T	C	13: 23,755,045 (GRCm39)	I80V	probably benign	Het
Has1	T	C	17: 18,063,971 (GRCm39)	Y556C	probably damaging	Het
Hecw1	T	C	13: 14,546,567 (GRCm39)	I145V	probably damaging	Het
Helz2	T	A	2: 180,878,245 (GRCm39)	Y851F	possibly damaging	Het
Hes7	C	A	11: 69,013,711 (GRCm39)	P190Q	probably benign	Het
Hivep1	T	C	13: 42,322,779 (GRCm39)	C79R		Het
Hnrnpr	A	G	4: 136,056,681 (GRCm39)	D227G	probably damaging	Het
Hoxb9	C	A	11: 96,162,544 (GRCm39)	F59L	probably benign	Het
Hspb1	A	T	5: 135,917,930 (GRCm39)	H135L	probably benign	Het
Igkv1-122	T	A	6: 67,994,348 (GRCm39)	F79I	probably benign	Het
Igtp	G	C	11: 58,097,800 (GRCm39)	V324L	possibly damaging	Het
Il18r1	G	A	1: 40,528,852 (GRCm39)	A299T	probably benign	Het
Kat14	C	A	2: 144,235,527 (GRCm39)	P329Q	probably damaging	Het
Krt33b	T	A	11: 99,917,315 (GRCm39)	Q179L	probably benign	Het
Lrrk2	C	T	15: 91,607,365 (GRCm39)	A576V	probably damaging	Het
Map3k11	A	G	19: 5,740,624 (GRCm39)	E117G	probably damaging	Het
Mgme1	C	T	2: 144,114,156 (GRCm39)	A86V	probably benign	Het
Mks1	C	A	11: 87,753,766 (GRCm39)	A534E	probably damaging	Het
Mrpl28	T	A	17: 26,343,594 (GRCm39)	I118N	probably damaging	Het
Mrps22	T	A	9: 98,480,219 (GRCm39)	Y102F	probably damaging	Het
Myt1	A	T	2: 181,461,991 (GRCm39)	H1000L	probably damaging	Het
Ncoa5	A	G	2: 164,854,802 (GRCm39)	Y107H	possibly damaging	Het
Nipsnap3a	A	T	4: 52,994,039 (GRCm39)	Y40F	probably benign	Het
Nlrc4	T	A	17: 74,752,580 (GRCm39)	Y601F	probably benign	Het
Obsl1	A	G	1: 75,466,267 (GRCm39)	L1487P	probably damaging	Het
Oit3	A	T	10: 59,264,173 (GRCm39)	N320K	probably damaging	Het
Or1e33	T	C	11: 73,738,825 (GRCm39)	N42S	probably damaging	Het
Or7a38	A	G	10: 78,753,559 (GRCm39)	N295S	probably damaging	Het
Otud4	T	C	8: 80,400,480 (GRCm39)	S1065P	probably benign	Het
P3h1	A	C	4: 119,094,008 (GRCm39)	E221A	possibly damaging	Het
Pgpep1	C	A	8: 71,103,899 (GRCm39)	A124S	probably benign	Het
Pigg	T	A	5: 108,495,782 (GRCm39)	S940T		Het
Proser3	G	T	7: 30,245,587 (GRCm39)	T139K	possibly damaging	Het
Prr36	C	T	8: 4,264,775 (GRCm39)	R297H	unknown	Het
Rai14	A	T	15: 10,587,947 (GRCm39)	F306I	possibly damaging	Het
Rnase13	T	A	14: 52,159,825 (GRCm39)	N105Y	probably damaging	Het
Ros1	A	G	10: 52,000,174 (GRCm39)	I1138T	probably benign	Het
Rsbn1	C	A	3: 103,822,146 (GRCm39)	T127K	possibly damaging	Het
Rsf1	G	GCCGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtca	T	C	3: 116,301,413 (GRCm39)	T45A	probably benign	Het
Sema6b	G	T	17: 56,439,500 (GRCm39)	D82E	probably benign	Het
Serpinc1	A	T	1: 160,821,179 (GRCm39)	K209*	probably null	Het
Slc4a1	C	A	11: 102,247,674 (GRCm39)	R403L	probably damaging	Het
Smtn	A	G	11: 3,482,780 (GRCm39)	V92A	possibly damaging	Het
Spag9	T	C	11: 93,959,792 (GRCm39)	V327A	probably damaging	Het
Spdl1	T	C	11: 34,713,283 (GRCm39)	N233S	possibly damaging	Het
Stimate	A	G	14: 30,593,463 (GRCm39)	N189S	probably damaging	Het
Ston2	T	C	12: 91,707,424 (GRCm39)	D62G	possibly damaging	Het
Sult2a5	A	G	7: 13,359,243 (GRCm39)	D73G	probably benign	Het
Ticrr	A	G	7: 79,343,597 (GRCm39)	E1154G	probably benign	Het
Tmem163	A	T	1: 127,480,529 (GRCm39)	M111K	probably damaging	Het
Tmem266	T	C	9: 55,344,973 (GRCm39)	V535A	probably damaging	Het
Tmt1a	T	C	15: 100,203,215 (GRCm39)	V163A	probably damaging	Het
Tpcn1	A	C	5: 120,698,390 (GRCm39)	I44S	probably benign	Het
Trbv12-1	T	A	6: 41,090,921 (GRCm39)	F98I	probably damaging	Het
Trhde	A	T	10: 114,636,697 (GRCm39)	V170E	probably damaging	Het
Trpt1	A	T	19: 6,975,578 (GRCm39)	T111S	probably benign	Het
Ttc13	T	C	8: 125,410,010 (GRCm39)	T401A	possibly damaging	Het
Ulbp1	T	C	10: 7,423,260 (GRCm39)	I28V	probably benign	Het
Vldlr	A	T	19: 27,218,742 (GRCm39)	D531V	probably damaging	Het
Vmn2r85	T	A	10: 130,261,387 (GRCm39)	T317S	probably damaging	Het
Vps33a	T	C	5: 123,696,705 (GRCm39)	K316R	probably benign	Het
Vwa3b	A	G	1: 37,099,520 (GRCm39)	N245S	probably damaging	Het
Zfp266	A	T	9: 20,413,413 (GRCm39)	C82*	probably null	Het
Zfp746	T	C	6: 48,041,397 (GRCm39)	K443R	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
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
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'- TGGGTAGGATTCTCAGATCAAGAG -3'
(R):5'- TGAAGGTAGACACATTCTATCACGC -3'

Sequencing Primer
(F):5'- TCAAGAGATATGAGGGCTAAAACTG -3'
(R):5'- GGTAGACACATTCTATCACGCTTTTG -3'

Posted On

2022-07-18