Mutagenetix > Incidental Mutation

Incidental Mutation 'R8324:Tmprss9'

643996

Institutional Source

Beutler Lab

Gene Symbol

Tmprss9

Ensembl Gene

ENSMUSG00000059406

Gene Name

transmembrane protease, serine 9

Synonyms

Serase-1B

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R8324 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80871848-80899492 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 80897371 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100970 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406

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 null
Transcript: ENSMUST00000105333

SMART Domains

Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406

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

probably null
Transcript: ENSMUST00000219817

Predicted Effect

probably null
Transcript: ENSMUST00000219817

Predicted Effect

probably benign
Transcript: ENSMUST00000219896

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,290,395	S753P	probably damaging	Het
Acan	A	G	7: 79,091,056	E390G	probably damaging	Het
Antxr2	T	C	5: 97,938,509	N413S	probably damaging	Het
Bace2	C	T	16: 97,356,908	A36V	possibly damaging	Het
Caprin1	G	A	2: 103,783,181	R79*	probably null	Het
Cdan1	A	G	2: 120,727,325	V507A	probably benign	Het
Cdkl3	T	A	11: 52,022,879		probably null	Het
Chst5	A	T	8: 111,890,508	L160Q	probably benign	Het
Col11a1	C	G	3: 114,164,410	P1111R	probably damaging	Het
Col6a6	T	A	9: 105,755,654	E1470D	probably benign	Het
Cpped1	T	A	16: 11,805,476	T274S	probably benign	Het
Ctnnbl1	G	A	2: 157,779,815	E75K	probably damaging	Het
Cyp4f40	T	C	17: 32,659,528	S15P	probably benign	Het
Ddx46	T	C	13: 55,663,914	S643P	probably damaging	Het
Defb34	A	G	8: 19,123,798	Q16R	probably null	Het
Dhrs2	T	A	14: 55,238,764	V147E	probably damaging	Het
Dnah5	G	T	15: 28,346,865	R2498L	probably damaging	Het
Dpp10	T	A	1: 123,854,172	I93F	probably benign	Het
Eef1e1	T	A	13: 38,655,069	D104V	probably damaging	Het
Egfr	A	G	11: 16,858,971	Y55C	probably damaging	Het
Egfr	A	C	11: 16,908,885	I955L	probably damaging	Het
Ehbp1l1	C	A	19: 5,719,998	V426F	possibly damaging	Het
Fam234a	C	T	17: 26,218,698	V108I	probably benign	Het
Fzd8	T	A	18: 9,214,688	M590K	probably damaging	Het
Gm13287	T	C	4: 88,803,638	S129P	probably damaging	Het
Heatr5b	A	G	17: 78,755,364	S1919P	possibly damaging	Het
Hspg2	C	G	4: 137,518,979	P1023A	possibly damaging	Het
Ikbkap	C	T	4: 56,772,491	E877K	probably damaging	Het
Itpr2	T	C	6: 146,328,398	E1233G	probably damaging	Het
Kcnmb4	A	G	10: 116,418,314	L186P	probably damaging	Het
Krt72	T	A	15: 101,782,145	Y224F	probably damaging	Het
Loxhd1	T	C	18: 77,339,579		probably null	Het
Lrguk	A	G	6: 34,102,571	T914A	probably benign	Het
Lrrtm4	A	G	6: 80,021,991	T129A	probably damaging	Het
Mmp13	A	T	9: 7,276,636	I244F	possibly damaging	Het
Mob1a	T	A	6: 83,329,974	L41Q	probably damaging	Het
Mtcl1	T	C	17: 66,436,217	R426G	probably damaging	Het
Mybbp1a	T	C	11: 72,445,288		probably null	Het
Myh9	A	G	15: 77,788,917		probably null	Het
Myo1d	T	A	11: 80,557,521	D926V	probably damaging	Het
Ncapg	T	G	5: 45,695,668	H825Q	probably damaging	Het
Olfml1	T	C	7: 107,590,363	S212P	probably benign	Het
Olfr656	G	A	7: 104,618,114	R145H	probably benign	Het
Pak2	T	C	16: 32,052,211	N51S	probably benign	Het
Papln	T	C	12: 83,786,619	Y1132H	probably damaging	Het
Pax3	T	A	1: 78,193,789	R134S	probably damaging	Het
Pdzrn4	A	G	15: 92,770,937	E990G	probably damaging	Het
Peak1	A	T	9: 56,207,476	W1394R	probably damaging	Het
Pkn2	T	C	3: 142,829,010	N285D	probably benign	Het
Pramef12	A	C	4: 144,395,857	L39R	probably damaging	Het
Prrc2a	A	G	17: 35,156,984	S897P	possibly damaging	Het
Rad51	A	G	2: 119,123,831	T131A	possibly damaging	Het
Rc3h2	T	A	2: 37,400,726	T255S	possibly damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rictor	T	A	15: 6,745,562	V125E	probably damaging	Het
Rps6ka5	C	T	12: 100,558,487	D664N	possibly damaging	Het
Rreb1	T	A	13: 37,947,621	W1584R	probably damaging	Het
Rxra	T	C	2: 27,741,183	I142T	probably damaging	Het
Sall2	T	C	14: 52,312,886	T951A	probably benign	Het
Slc15a2	T	G	16: 36,759,307	N359T	probably damaging	Het
Slc23a1	C	T	18: 35,622,535	G436E	probably damaging	Het
Slc6a13	T	C	6: 121,337,414	*603Q	probably null	Het
Sptb	T	C	12: 76,619,162	D894G	possibly damaging	Het
Srgn	A	G	10: 62,507,665	L17P	probably damaging	Het
Trav9n-4	T	C	14: 53,294,946	F86L	probably benign	Het
Trp63	A	G	16: 25,876,734	Y482C	unknown	Het
Ttc9b	G	T	7: 27,653,969	A15S	probably damaging	Het
Urb1	A	T	16: 90,791,190	I410N	probably damaging	Het
Vmn2r82	A	T	10: 79,378,893	K237*	probably null	Het
Wwox	G	A	8: 114,489,005		probably null	Het

Other mutations in Tmprss9

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Tmprss9	APN	10	80894428	critical splice donor site	probably null
IGL00990:Tmprss9	APN	10	80892292	missense	possibly damaging	0.92
IGL01710:Tmprss9	APN	10	80897959	unclassified	probably benign
IGL03075:Tmprss9	APN	10	80884029	missense	possibly damaging	0.77
IGL03132:Tmprss9	APN	10	80894865	missense	probably damaging	0.98
R0142:Tmprss9	UTSW	10	80894378	missense	possibly damaging	0.92
R0546:Tmprss9	UTSW	10	80899323	missense	probably benign	0.00
R1171:Tmprss9	UTSW	10	80879858	missense	possibly damaging	0.92
R1296:Tmprss9	UTSW	10	80890445	missense	probably benign	0.02
R1302:Tmprss9	UTSW	10	80895129	missense	probably benign	0.00
R1498:Tmprss9	UTSW	10	80895100	missense	probably benign	0.01
R1706:Tmprss9	UTSW	10	80898187	unclassified	probably benign
R1851:Tmprss9	UTSW	10	80892285	missense	probably damaging	0.98
R2096:Tmprss9	UTSW	10	80889434	missense	probably damaging	1.00
R2198:Tmprss9	UTSW	10	80887459	missense	probably damaging	1.00
R3783:Tmprss9	UTSW	10	80887467	missense	probably damaging	1.00
R5682:Tmprss9	UTSW	10	80897373	splice site	probably null
R5868:Tmprss9	UTSW	10	80882746	missense	probably benign	0.03
R6006:Tmprss9	UTSW	10	80883721	missense	possibly damaging	0.92
R6542:Tmprss9	UTSW	10	80888555	missense	probably damaging	1.00
R6676:Tmprss9	UTSW	10	80898311	unclassified	probably benign
R6718:Tmprss9	UTSW	10	80890364	missense	probably benign
R7062:Tmprss9	UTSW	10	80895049	missense	probably benign	0.00
R7316:Tmprss9	UTSW	10	80894979	missense	probably benign	0.00
R7337:Tmprss9	UTSW	10	80882670	missense	probably benign	0.00
R7624:Tmprss9	UTSW	10	80892219	missense	possibly damaging	0.77
R7659:Tmprss9	UTSW	10	80893009	missense	probably damaging	0.97
R7770:Tmprss9	UTSW	10	80898069	splice site	probably null
R7810:Tmprss9	UTSW	10	80897311	missense	unknown
R8177:Tmprss9	UTSW	10	80895048	missense	probably benign	0.00
R8354:Tmprss9	UTSW	10	80887486	missense	probably benign	0.04
R8454:Tmprss9	UTSW	10	80887486	missense	probably benign	0.04
R8456:Tmprss9	UTSW	10	80894417	missense	possibly damaging	0.92
R8729:Tmprss9	UTSW	10	80890343	missense	probably benign	0.01
R8968:Tmprss9	UTSW	10	80894329	missense	possibly damaging	0.71
R9010:Tmprss9	UTSW	10	80897867	missense	unknown
R9336:Tmprss9	UTSW	10	80894953	missense	probably benign	0.02
R9529:Tmprss9	UTSW	10	80894806	missense	probably damaging	0.99
R9786:Tmprss9	UTSW	10	80898208	missense	unknown
R9789:Tmprss9	UTSW	10	80895159	missense	probably benign	0.00
X0062:Tmprss9	UTSW	10	80883938	splice site	probably null
X0066:Tmprss9	UTSW	10	80893230	missense	probably damaging	0.99
Z1176:Tmprss9	UTSW	10	80888422	missense	probably damaging	0.98
Z1177:Tmprss9	UTSW	10	80887522	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTCTACAGATTGTGGCCTGG -3'
(R):5'- CAGCAGCCCCAGTCATTTCTAC -3'

Sequencing Primer
(F):5'- AGATTGTGGCCTGGCACCC -3'
(R):5'- GTGCTCAACTTTCCAGAGTGCAG -3'

Posted On

2020-09-02