Mutagenetix > Incidental Mutations

Incidental Mutation 'R8454:Tmprss9'

654946

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: 0.078) question?

Stock #

R8454 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80871848-80899492 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80887486 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 260 (H260R)

Ref Sequence

ENSEMBL: ENSMUSP00000100970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105333] [ENSMUST00000219817]

Predicted Effect

probably benign
Transcript: ENSMUST00000105333
AA Change: H260R

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406
AA Change: H260R

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: ENSMUST00000219817
AA Change: H260R

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	T	A	7: 118,792,572	F493Y	probably benign	Het
Abcc10	C	A	17: 46,324,177	G300V	possibly damaging	Het
Adgrg7	C	G	16: 56,795,682		probably benign	Het
Agt	G	A	8: 124,564,103	T155M	probably benign	Het
Atp8b3	A	G	10: 80,525,799	V763A	probably benign	Het
Btn1a1	C	A	13: 23,464,250	V138L	probably benign	Het
Cd163	A	T	6: 124,328,965	N1109I	probably benign	Het
Cideb	T	A	14: 55,755,141	Q106L	possibly damaging	Het
Cntn1	A	G	15: 92,232,249	T126A	probably benign	Het
Dusp27	A	T	1: 166,108,133	N165K	probably damaging	Het
Elfn1	T	C	5: 139,971,471	Y77H	probably damaging	Het
Eml3	A	G	19: 8,934,994	H386R	probably damaging	Het
Fbxo21	A	G	5: 117,995,414	D413G	probably damaging	Het
Fkbp8	T	A	8: 70,531,763		probably null	Het
Fzd1	T	C	5: 4,757,336	Q82R	probably benign	Het
Gast	T	C	11: 100,336,568	L29P	probably benign	Het
Glb1l2	C	A	9: 26,806,417		probably benign	Het
Gm1110	C	G	9: 26,883,280	Q483H	probably benign	Het
Gm1110	T	A	9: 26,883,281	Q483L	probably benign	Het
Gm5737	T	A	7: 120,831,180	V420E	possibly damaging	Het
Gpc6	T	C	14: 116,925,979	L15P	probably damaging	Het
Hagh	C	A	17: 24,857,562	S161*	probably null	Het
Hrh1	A	G	6: 114,480,853	D365G	probably benign	Het
Ighv1-36	A	T	12: 114,879,940	M100K	probably damaging	Het
Itgb8	A	T	12: 119,170,778	V518D	probably benign	Het
Krt82	T	C	15: 101,541,803	Y486C	probably damaging	Het
Lmbr1l	A	G	15: 98,912,476	S85P	probably damaging	Het
Met	A	G	6: 17,491,769	S177G	probably damaging	Het
Myl9	T	A	2: 156,781,128	I162N	possibly damaging	Het
Npat	T	A	9: 53,566,951	N973K	possibly damaging	Het
Olfr493	A	T	7: 108,346,682	C100S	probably damaging	Het
Pcdhga12	A	T	18: 37,768,137	D674V	possibly damaging	Het
Phtf1	T	A	3: 104,004,449	N702K	probably damaging	Het
Plaa	A	T	4: 94,569,477	I752N	probably damaging	Het
Pnpla2	T	C	7: 141,458,098	C194R	probably damaging	Het
Rnaseh2a	T	C	8: 84,965,147	N133S	probably benign	Het
Rps6ka1	T	A	4: 133,848,553	Q685L	probably benign	Het
Ryr1	C	A	7: 29,015,717	G4661C	unknown	Het
Samd13	T	A	3: 146,646,402	M65L	probably benign	Het
Sec22c	A	G	9: 121,695,655	S21P	probably damaging	Het
Sh3d19	C	A	3: 86,107,022	T431K	probably benign	Het
Sin3b	A	G	8: 72,741,480	M277V	probably benign	Het
Sis	T	C	3: 72,947,501	T468A	possibly damaging	Het
Slitrk3	T	C	3: 73,049,180	N753S	probably benign	Het
Slitrk6	C	A	14: 110,752,046	L76F	probably damaging	Het
Stk3	C	T	15: 34,876,724	A478T	probably damaging	Het
Sugp1	C	A	8: 70,071,597	Y617*	probably null	Het
Tinag	T	C	9: 77,031,695	D167G	probably damaging	Het
Tk2	A	G	8: 104,241,114		probably null	Het
Tmem209	A	T	6: 30,489,309	V514D	probably damaging	Het
Tnfrsf14	T	A	4: 154,926,655	Y83F	possibly damaging	Het
Tnfrsf8	A	T	4: 145,287,983	D285E	probably benign	Het
Togaram2	C	G	17: 71,697,878	A310G	probably benign	Het
Trpv3	A	G	11: 73,291,622	Y544C	probably damaging	Het
Ttl	T	A	2: 129,066,184	V13D	probably damaging	Het
Usp40	A	T	1: 87,980,972	D602E	probably benign	Het
Vamp5	A	G	6: 72,370,393		probably benign	Het
Vmn2r65	T	A	7: 84,940,194	H838L	possibly damaging	Het
Wdr63	T	C	3: 146,097,227	K70E	probably damaging	Het
Zfp960	T	A	17: 17,088,199	Y392N	probably benign	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
R8324:Tmprss9	UTSW	10	80897371	critical splice donor site	probably null
R8354:Tmprss9	UTSW	10	80887486	missense	probably benign	0.04
R8456:Tmprss9	UTSW	10	80894417	missense	possibly damaging	0.92
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'- TGAACCTGGGGCCAAAAG -3'
(R):5'- TGCTAAATAAAAGCTGAGCAGG -3'

Sequencing Primer
(F):5'- GATAAGTGACGACTGCTCCTG -3'
(R):5'- CCATTCTCTATAGGAGTCAGGCATG -3'

Posted On

2020-10-20