Mutagenetix > Incidental Mutation

Incidental Mutation 'R1498:Tmprss9'

169050

Institutional Source

Beutler Lab

Gene Symbol

Tmprss9

Ensembl Gene

ENSMUSG00000059406

Gene Name

transmembrane protease, serine 9

Synonyms

Serase-1B

MMRRC Submission

039549-MU

Accession Numbers

Essential gene?

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

Stock #

R1498 (G1)

Quality Score

193

Status

Validated

Chromosome

Chromosomal Location

80707682-80735326 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80730934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 820 (V820E)

Ref Sequence

ENSEMBL: ENSMUSP00000152034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020440] [ENSMUST00000105333] [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: ENSMUST00000105333
AA Change: V820E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000100970
Gene: ENSMUSG00000059406
AA Change: V820E

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: ENSMUST00000218481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219742

Predicted Effect

probably benign
Transcript: ENSMUST00000219817
AA Change: V820E

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

probably benign
Transcript: ENSMUST00000219896

Meta Mutation Damage Score

0.0713

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.6%

Validation Efficiency

97% (83/86)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	A	G	11: 100,374,627 (GRCm39)	S799P	probably benign	Het
Acvr1b	T	C	15: 101,091,891 (GRCm39)	F57S	probably benign	Het
Adamts5	T	A	16: 85,696,990 (GRCm39)	T56S	possibly damaging	Het
Adrb2	T	C	18: 62,312,004 (GRCm39)	T274A	probably damaging	Het
Agr3	A	T	12: 35,984,379 (GRCm39)		probably null	Het
Ankrd6	A	G	4: 32,810,289 (GRCm39)	M405T	probably benign	Het
Aoc1l2	A	G	6: 48,908,305 (GRCm39)	H435R	probably benign	Het
Aqp5	T	C	15: 99,491,128 (GRCm39)	I60T	probably damaging	Het
Arf5	G	T	6: 28,426,153 (GRCm39)	R180L	probably benign	Het
Asap3	A	G	4: 135,966,505 (GRCm39)	N528D	probably benign	Het
Atmin	G	A	8: 117,681,540 (GRCm39)	E180K	probably benign	Het
Bcl11a	A	T	11: 24,114,005 (GRCm39)	E449D	probably damaging	Het
Cep128	A	T	12: 91,333,191 (GRCm39)	F25I	probably benign	Het
Cfp	GCAC	GC	X: 20,795,905 (GRCm39)		probably null	Het
Chpt1	T	A	10: 88,312,966 (GRCm39)	Y282F	possibly damaging	Het
Cul7	A	G	17: 46,966,636 (GRCm39)	D355G	probably benign	Het
Daxx	T	C	17: 34,131,227 (GRCm39)	Y385H	probably damaging	Het
Dnah2	A	C	11: 69,411,493 (GRCm39)		probably null	Het
Dscc1	CTGAATGAAT	CTGAAT	15: 54,943,572 (GRCm39)		probably benign	Het
Erc2	T	A	14: 28,024,855 (GRCm39)	M578K	probably benign	Het
Evc	T	A	5: 37,481,044 (GRCm39)	H267L	possibly damaging	Het
Exosc10	A	C	4: 148,666,243 (GRCm39)	Q837P	possibly damaging	Het
Fasn	G	A	11: 120,706,245 (GRCm39)	T1033I	probably damaging	Het
Fat1	C	A	8: 45,478,521 (GRCm39)	Y2522*	probably null	Het
Fbxw8	G	A	5: 118,203,850 (GRCm39)		probably benign	Het
Fyn	A	G	10: 39,408,120 (GRCm39)	D321G	possibly damaging	Het
Grm6	G	A	11: 50,748,083 (GRCm39)	V398M	probably damaging	Het
Gtpbp1	T	A	15: 79,603,222 (GRCm39)		probably null	Het
Hnf1a	A	G	5: 115,108,596 (GRCm39)	V103A	probably damaging	Het
Hsp90aa1	A	T	12: 110,662,122 (GRCm39)		probably null	Het
Iqgap2	C	T	13: 95,783,313 (GRCm39)	V1288I	probably benign	Het
Irx5	A	G	8: 93,086,514 (GRCm39)	D199G	probably damaging	Het
Klrh1	A	G	6: 129,748,703 (GRCm39)	S105P	probably damaging	Het
Krt9	G	T	11: 100,079,195 (GRCm39)	C732*	probably null	Het
Lifr	T	C	15: 7,220,099 (GRCm39)	S910P	probably damaging	Het
Lrig1	G	A	6: 94,604,968 (GRCm39)	A209V	possibly damaging	Het
Lrrk1	T	A	7: 65,952,419 (GRCm39)	R506*	probably null	Het
Lyst	T	A	13: 13,824,960 (GRCm39)	I1525K	possibly damaging	Het
Mad2l1	C	T	6: 66,516,826 (GRCm39)	Q173*	probably null	Het
Mcoln1	T	A	8: 3,562,861 (GRCm39)	I524N	probably damaging	Het
Mmp3	A	T	9: 7,446,967 (GRCm39)	D49V	possibly damaging	Het
Morc3	A	T	16: 93,650,743 (GRCm39)	N321I	probably damaging	Het
Mrpl48	T	C	7: 100,195,695 (GRCm39)		probably benign	Het
Myo6	T	A	9: 80,214,961 (GRCm39)	D1231E	probably damaging	Het
Nlrc4	A	G	17: 74,753,408 (GRCm39)	I325T	probably benign	Het
Or1j19	A	T	2: 36,677,358 (GRCm39)	I274F	probably damaging	Het
Or2ag17	T	C	7: 106,389,623 (GRCm39)	Y195C	possibly damaging	Het
Or4f61	A	T	2: 111,922,938 (GRCm39)	M36K	probably benign	Het
Or8c16	C	G	9: 38,130,676 (GRCm39)	P183A	probably damaging	Het
Or8k32	A	G	2: 86,368,902 (GRCm39)	V117A	probably benign	Het
Parvg	T	A	15: 84,218,832 (GRCm39)	S230T	possibly damaging	Het
Pcca	T	C	14: 122,854,230 (GRCm39)	I118T	probably damaging	Het
Pde6a	A	G	18: 61,365,932 (GRCm39)	N219S	possibly damaging	Het
Phldb1	G	T	9: 44,612,915 (GRCm39)	P935Q	possibly damaging	Het
Plppr5	T	C	3: 117,456,261 (GRCm39)	S261P	probably damaging	Het
Ppl	T	C	16: 4,922,629 (GRCm39)	N260S	probably benign	Het
Ppp1r3e	A	T	14: 55,113,882 (GRCm39)	H263Q	probably benign	Het
Ppp3cb	T	C	14: 20,559,567 (GRCm39)		probably null	Het
Ppt2	A	T	17: 34,842,075 (GRCm39)	D185E	probably benign	Het
Prr27	A	T	5: 87,998,600 (GRCm39)		probably benign	Het
Ptcd3	A	T	6: 71,870,479 (GRCm39)	V327E	probably damaging	Het
Pwwp4a	G	T	X: 72,171,261 (GRCm39)	G218C	probably damaging	Het
Rsf1	GCG	GCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Rtp1	A	T	16: 23,249,970 (GRCm39)	M112L	probably benign	Het
Slc22a5	A	T	11: 53,760,140 (GRCm39)	L392Q	probably damaging	Het
Slc6a7	A	G	18: 61,129,764 (GRCm39)	I614T	probably benign	Het
Slu7	C	A	11: 43,329,044 (GRCm39)	P89T	possibly damaging	Het
Smarcc2	T	C	10: 128,318,061 (GRCm39)	V618A	probably benign	Het
Sorl1	C	T	9: 41,952,369 (GRCm39)	R729Q	probably damaging	Het
Sptbn2	T	C	19: 4,794,274 (GRCm39)	F1493L	possibly damaging	Het
Sulf1	C	T	1: 12,918,574 (GRCm39)	T66I	probably damaging	Het
Tgtp2	A	G	11: 48,950,165 (GRCm39)	Y136H	probably damaging	Het
Tmem117	T	C	15: 94,536,242 (GRCm39)	F92S	probably damaging	Het
Tpcn2	A	G	7: 144,822,648 (GRCm39)	Y266H	probably damaging	Het
Trat1	A	G	16: 48,555,304 (GRCm39)	S143P	probably benign	Het
Vmn1r49	T	A	6: 90,049,298 (GRCm39)	R235W	probably damaging	Het
Vmn1r71	A	T	7: 10,482,575 (GRCm39)	C38S	probably benign	Het
Vmn2r6	T	A	3: 64,463,890 (GRCm39)	T315S	probably damaging	Het
Wdr36	A	G	18: 32,986,021 (GRCm39)	D575G	possibly damaging	Het
Zfp292	G	T	4: 34,805,397 (GRCm39)	A2549E	possibly damaging	Het
Zfp354a	A	T	11: 50,961,073 (GRCm39)	H426L	probably damaging	Het
Zfp407	C	T	18: 84,577,898 (GRCm39)	A1072T	probably benign	Het
Zfp648	T	A	1: 154,081,119 (GRCm39)	I426N	probably damaging	Het
Zfp87	T	C	13: 74,520,736 (GRCm39)	N114S	probably benign	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
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
R9010:Tmprss9	UTSW	10	80,733,701 (GRCm39)	missense	unknown
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'- TCCTGAAAGCGATGTCCTCAGACC -3'
(R):5'- AGATGTCAGCACACAGGCACAG -3'

Sequencing Primer
(F):5'- GATGTCCTCAGACCCCAGC -3'
(R):5'- ATCAGACTCCAGCTCTGGATG -3'

Posted On

2014-04-13