Mutagenetix > Incidental Mutation

Incidental Mutation 'R9010:Tmprss9'

685577

Institutional Source

Beutler Lab

Gene Symbol

Tmprss9

Ensembl Gene

ENSMUSG00000059406

Gene Name

transmembrane protease, serine 9

Synonyms

Serase-1B

MMRRC Submission

068840-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R9010 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80707682-80735326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80733701 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 921 (A921E)

Ref Sequence

ENSEMBL: ENSMUSP00000100970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020440] [ENSMUST00000057623] [ENSMUST00000105332] [ENSMUST00000105333] [ENSMUST00000179022] [ENSMUST00000218481] [ENSMUST00000219817] [ENSMUST00000219896]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000020440

SMART Domains

Protein: ENSMUSP00000020440
Gene: ENSMUSG00000020219

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
Pfam:zf-Tim10_DDP	23	87	4.6e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057623

SMART Domains

Protein: ENSMUSP00000057291
Gene: ENSMUSG00000062075

Domain	Start	End	E-Value	Type
Filament	42	398	1.97e-47	SMART
low complexity region	402	422	N/A	INTRINSIC
internal_repeat_1	427	442	1.72e-5	PROSPERO
low complexity region	444	458	N/A	INTRINSIC
Pfam:LTD	462	575	9.3e-16	PFAM
low complexity region	579	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000105332

SMART Domains

Protein: ENSMUSP00000100969
Gene: ENSMUSG00000062075

Domain	Start	End	E-Value	Type
Pfam:Filament	77	257	1.2e-49	PFAM
low complexity region	261	281	N/A	INTRINSIC
Pfam:LTD	317	435	6.7e-23	PFAM
low complexity region	438	455	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000105333
AA Change: A921E

SMART Domains

Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406
AA Change: A921E

Domain	Start	End	E-Value	Type
Pfam:SEA	62	155	1.7e-10	PFAM
LDLa	189	227	1.15e-4	SMART
Tryp_SPc	238	467	2.43e-96	SMART
low complexity region	477	502	N/A	INTRINSIC
Tryp_SPc	539	767	7.28e-86	SMART
Tryp_SPc	867	1093	1.62e-92	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179022

SMART Domains

Protein: ENSMUSP00000136524
Gene: ENSMUSG00000062075

Domain	Start	End	E-Value	Type
Pfam:Filament	23	379	8.9e-96	PFAM
low complexity region	383	403	N/A	INTRINSIC
internal_repeat_1	408	423	1.1e-5	PROSPERO
Pfam:LTD	439	557	1.3e-23	PFAM
low complexity region	560	577	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218481

Predicted Effect

unknown
Transcript: ENSMUST00000219817
AA Change: A921E

Predicted Effect

probably benign
Transcript: ENSMUST00000219896

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a membrane-bound type II serine polyprotease that is cleaved to release three different proteases. Two of the proteases are active and can be inhibited by serine protease inhibitors, and one is thought to be catalytically inactive. This gene enhances the invasive capability of pancreatic cancer cells and may be involved in cancer progression. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,119,504 (GRCm39)	M87K	possibly damaging	Het
Angel1	T	C	12: 86,770,153 (GRCm39)	S36G	possibly damaging	Het
Apol6	A	G	15: 76,935,697 (GRCm39)	H322R	unknown	Het
Arfgef2	G	A	2: 166,701,284 (GRCm39)	R694Q	probably damaging	Het
Bank1	A	T	3: 135,761,559 (GRCm39)	N748K	probably benign	Het
Bptf	A	T	11: 106,964,576 (GRCm39)	D1539E	probably damaging	Het
Bst1	T	C	5: 43,982,695 (GRCm39)	I180T	possibly damaging	Het
Cabin1	C	A	10: 75,570,892 (GRCm39)	E795*	probably null	Het
Ccdc168	A	G	1: 44,100,633 (GRCm39)	V155A	possibly damaging	Het
Cckar	T	A	5: 53,857,163 (GRCm39)	T416S	probably damaging	Het
Ccng2	G	T	5: 93,416,616 (GRCm39)	E46*	probably null	Het
Ceacam9	T	C	7: 16,455,916 (GRCm39)	S8P	probably benign	Het
Cercam	G	A	2: 29,766,071 (GRCm39)	D317N	possibly damaging	Het
Cfap54	T	A	10: 92,734,921 (GRCm39)	M2377L	unknown	Het
Cgnl1	A	T	9: 71,558,631 (GRCm39)	L914H	probably damaging	Het
Chst13	G	A	6: 90,286,506 (GRCm39)	P152L	probably damaging	Het
Clec2g	T	A	6: 128,925,688 (GRCm39)	F32L	unknown	Het
Cntnap5c	A	T	17: 58,671,159 (GRCm39)	M1116L	probably benign	Het
Col11a2	C	A	17: 34,283,760 (GRCm39)	F1516L	unknown	Het
Crb2	A	G	2: 37,680,698 (GRCm39)	E542G	probably benign	Het
Crisp1	A	T	17: 40,616,101 (GRCm39)		probably benign	Het
Crybg3	G	A	16: 59,374,702 (GRCm39)	T470M	probably damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eif1ad	T	A	19: 5,418,726 (GRCm39)	V93D	possibly damaging	Het
Entpd3	T	C	9: 120,384,825 (GRCm39)	I134T	probably benign	Het
Garre1	A	T	7: 33,938,491 (GRCm39)	C1015S	probably benign	Het
Gm19410	A	G	8: 36,282,011 (GRCm39)	M1865V	probably benign	Het
Gpat2	A	G	2: 127,277,146 (GRCm39)	E728G	probably benign	Het
Heatr5b	C	A	17: 79,081,139 (GRCm39)	S1371I	probably damaging	Het
Ighv1-4	A	T	12: 114,450,949 (GRCm39)	M53K	possibly damaging	Het
Itch	A	T	2: 155,020,991 (GRCm39)	T169S	probably benign	Het
Kifc2	A	G	15: 76,550,885 (GRCm39)	N587S	possibly damaging	Het
Klk1b16	A	T	7: 43,790,177 (GRCm39)	D149V	probably benign	Het
Kndc1	C	T	7: 139,507,708 (GRCm39)	S1222F	possibly damaging	Het
Lefty2	T	A	1: 180,722,172 (GRCm39)	I170N	probably damaging	Het
Lrrc14b	A	G	13: 74,509,151 (GRCm39)	F419L	possibly damaging	Het
Mkrn2	T	A	6: 115,591,583 (GRCm39)	V302E	possibly damaging	Het
Msh4	T	C	3: 153,595,819 (GRCm39)	K271R	probably benign	Het
Muc6	T	C	7: 141,226,351 (GRCm39)	T1559A	unknown	Het
Naa16	T	G	14: 79,607,482 (GRCm39)	R289S	probably benign	Het
Nab1	T	A	1: 52,529,610 (GRCm39)	I96F	possibly damaging	Het
Ntn4	T	C	10: 93,480,506 (GRCm39)	C77R		Het
Nusap1	A	G	2: 119,479,456 (GRCm39)	T424A	possibly damaging	Het
Or1p1	G	T	11: 74,180,305 (GRCm39)	V278F	probably damaging	Het
Or2w6	A	G	13: 21,842,681 (GRCm39)	Y271H	probably damaging	Het
Or4e2	T	A	14: 52,688,556 (GRCm39)	S229T	possibly damaging	Het
Otog	A	G	7: 45,949,894 (GRCm39)	D267G	probably benign	Het
P2ry2	A	C	7: 100,647,358 (GRCm39)	F316V	probably benign	Het
Padi2	A	G	4: 140,663,924 (GRCm39)	T426A	probably damaging	Het
Pakap	A	T	4: 57,883,192 (GRCm39)	D845V	probably damaging	Het
Plxna2	T	C	1: 194,471,217 (GRCm39)	F996S	possibly damaging	Het
Ppp4r3a	T	C	12: 101,024,591 (GRCm39)	M303V	possibly damaging	Het
Prelid2	A	T	18: 42,065,781 (GRCm39)	W85R	probably damaging	Het
Rabep1	G	A	11: 70,810,034 (GRCm39)	R532H	probably damaging	Het
Rabgap1l	G	A	1: 160,528,443 (GRCm39)	R388W	possibly damaging	Het
Rad51ap2	G	T	12: 11,508,675 (GRCm39)	V866L	probably benign	Het
Rassf3	C	A	10: 121,311,991 (GRCm39)	E9*	probably null	Het
Rbbp4	A	C	4: 129,216,180 (GRCm39)	L189R	probably benign	Het
Rims2	T	A	15: 39,315,786 (GRCm39)	C597*	probably null	Het
Rrp12	T	A	19: 41,871,929 (GRCm39)	I452F	probably benign	Het
Snx29	G	A	16: 11,449,391 (GRCm39)	A279T	probably benign	Het
Tdh	C	T	14: 63,737,704 (GRCm39)	S17N	probably benign	Het
Tgm5	T	C	2: 120,879,371 (GRCm39)	D555G	possibly damaging	Het
Thbs1	A	C	2: 117,953,045 (GRCm39)	D885A	probably damaging	Het
Trrap	T	A	5: 144,783,226 (GRCm39)	F3340I	probably damaging	Het
Vmn1r72	A	T	7: 11,404,145 (GRCm39)	M101K	possibly damaging	Het
Vmn2r117	A	G	17: 23,679,445 (GRCm39)	L593P	probably benign	Het
Washc2	G	A	6: 116,198,823 (GRCm39)	G295E	probably damaging	Het
Zfp273	A	T	13: 67,974,177 (GRCm39)	H435L	probably damaging	Het
Zfp395	A	G	14: 65,623,948 (GRCm39)	E139G	possibly damaging	Het
Zfp512b	G	A	2: 181,230,011 (GRCm39)	A552V	possibly damaging	Het

Other mutations in Tmprss9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Tmprss9	APN	10	80,730,262 (GRCm39)	critical splice donor site	probably null
IGL00990:Tmprss9	APN	10	80,728,126 (GRCm39)	missense	possibly damaging	0.92
IGL01710:Tmprss9	APN	10	80,733,793 (GRCm39)	unclassified	probably benign
IGL03075:Tmprss9	APN	10	80,719,863 (GRCm39)	missense	possibly damaging	0.77
IGL03132:Tmprss9	APN	10	80,730,699 (GRCm39)	missense	probably damaging	0.98
R0142:Tmprss9	UTSW	10	80,730,212 (GRCm39)	missense	possibly damaging	0.92
R0546:Tmprss9	UTSW	10	80,735,157 (GRCm39)	missense	probably benign	0.00
R1171:Tmprss9	UTSW	10	80,715,692 (GRCm39)	missense	possibly damaging	0.92
R1296:Tmprss9	UTSW	10	80,726,279 (GRCm39)	missense	probably benign	0.02
R1302:Tmprss9	UTSW	10	80,730,963 (GRCm39)	missense	probably benign	0.00
R1498:Tmprss9	UTSW	10	80,730,934 (GRCm39)	missense	probably benign	0.01
R1706:Tmprss9	UTSW	10	80,734,021 (GRCm39)	unclassified	probably benign
R1851:Tmprss9	UTSW	10	80,728,119 (GRCm39)	missense	probably damaging	0.98
R2096:Tmprss9	UTSW	10	80,725,268 (GRCm39)	missense	probably damaging	1.00
R2198:Tmprss9	UTSW	10	80,723,293 (GRCm39)	missense	probably damaging	1.00
R3783:Tmprss9	UTSW	10	80,723,301 (GRCm39)	missense	probably damaging	1.00
R5682:Tmprss9	UTSW	10	80,733,207 (GRCm39)	splice site	probably null
R5868:Tmprss9	UTSW	10	80,718,580 (GRCm39)	missense	probably benign	0.03
R6006:Tmprss9	UTSW	10	80,719,555 (GRCm39)	missense	possibly damaging	0.92
R6542:Tmprss9	UTSW	10	80,724,389 (GRCm39)	missense	probably damaging	1.00
R6676:Tmprss9	UTSW	10	80,734,145 (GRCm39)	unclassified	probably benign
R6718:Tmprss9	UTSW	10	80,726,198 (GRCm39)	missense	probably benign
R7062:Tmprss9	UTSW	10	80,730,883 (GRCm39)	missense	probably benign	0.00
R7316:Tmprss9	UTSW	10	80,730,813 (GRCm39)	missense	probably benign	0.00
R7337:Tmprss9	UTSW	10	80,718,504 (GRCm39)	missense	probably benign	0.00
R7624:Tmprss9	UTSW	10	80,728,053 (GRCm39)	missense	possibly damaging	0.77
R7659:Tmprss9	UTSW	10	80,728,843 (GRCm39)	missense	probably damaging	0.97
R7770:Tmprss9	UTSW	10	80,733,903 (GRCm39)	splice site	probably null
R7810:Tmprss9	UTSW	10	80,733,145 (GRCm39)	missense	unknown
R8177:Tmprss9	UTSW	10	80,730,882 (GRCm39)	missense	probably benign	0.00
R8324:Tmprss9	UTSW	10	80,733,205 (GRCm39)	critical splice donor site	probably null
R8354:Tmprss9	UTSW	10	80,723,320 (GRCm39)	missense	probably benign	0.04
R8454:Tmprss9	UTSW	10	80,723,320 (GRCm39)	missense	probably benign	0.04
R8456:Tmprss9	UTSW	10	80,730,251 (GRCm39)	missense	possibly damaging	0.92
R8729:Tmprss9	UTSW	10	80,726,177 (GRCm39)	missense	probably benign	0.01
R8968:Tmprss9	UTSW	10	80,730,163 (GRCm39)	missense	possibly damaging	0.71
R9336:Tmprss9	UTSW	10	80,730,787 (GRCm39)	missense	probably benign	0.02
R9529:Tmprss9	UTSW	10	80,730,640 (GRCm39)	missense	probably damaging	0.99
R9786:Tmprss9	UTSW	10	80,734,042 (GRCm39)	missense	unknown
R9789:Tmprss9	UTSW	10	80,730,993 (GRCm39)	missense	probably benign	0.00
X0062:Tmprss9	UTSW	10	80,719,772 (GRCm39)	splice site	probably null
X0066:Tmprss9	UTSW	10	80,729,064 (GRCm39)	missense	probably damaging	0.99
Z1176:Tmprss9	UTSW	10	80,724,256 (GRCm39)	missense	probably damaging	0.98
Z1177:Tmprss9	UTSW	10	80,723,356 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAATTCTGCAGAGGGTATATGAGG -3'
(R):5'- ATGCGTGTATACCTCCCTCG -3'

Sequencing Primer
(F):5'- CTGCAGAGGGTATATGAGGCAGTTG -3'
(R):5'- AGCCGGTGATGACGCATC -3'

Posted On

2021-10-11