Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00331:Tmprss15'

332285

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmprss15

Ensembl Gene

ENSMUSG00000022857

Gene Name

transmembrane protease, serine 15

Synonyms

Prss7, enterokinase, enteropeptidase, A130097D21Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00331

Quality Score

Status

Chromosome

Chromosomal Location

78749896-78887985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 78782882 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 712 (N712K)

Ref Sequence

ENSEMBL: ENSMUSP00000052034 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023566] [ENSMUST00000060402]

AlphaFold

P97435

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023566
AA Change: N727K

PolyPhen 2 Score 0.581 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: N727K

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
SEA	52	172	1.62e-22	SMART
LDLa	228	268	1.74e-4	SMART
CUB	270	379	1.54e-11	SMART
MAM	387	549	7.33e-54	SMART
low complexity region	551	567	N/A	INTRINSIC
CUB	569	679	1.72e-32	SMART
LDLa	687	724	7.32e-12	SMART
SR	723	813	3.12e-5	SMART
Tryp_SPc	829	1064	1.48e-95	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060402
AA Change: N712K

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: N712K

Domain	Start	End	E-Value	Type
transmembrane domain	21	43	N/A	INTRINSIC
SEA	52	172	1.62e-22	SMART
LDLa	213	253	1.74e-4	SMART
CUB	255	364	1.54e-11	SMART
MAM	372	534	7.33e-54	SMART
low complexity region	536	552	N/A	INTRINSIC
CUB	554	664	1.72e-32	SMART
LDLa	672	709	7.32e-12	SMART
SR	708	798	3.12e-5	SMART
Tryp_SPc	814	1049	1.48e-95	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes an enzyme that proteolytically activates the pancreatic proenzyme trypsinogen, converting it into trypsin. The encoded protein is cleaved into two chains that form a heterodimer linked by a disulfide bond. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	A	1: 74,320,595 (GRCm39)		probably benign	Het
Adamts19	T	A	18: 59,140,397 (GRCm39)		probably benign	Het
Afg3l1	T	A	8: 124,214,128 (GRCm39)	F190I	probably benign	Het
Alms1	T	A	6: 85,618,353 (GRCm39)	S2800T	possibly damaging	Het
Alox5	A	T	6: 116,392,478 (GRCm39)	W348R	probably damaging	Het
Atp13a5	G	A	16: 29,085,766 (GRCm39)	Q823*	probably null	Het
Atp6v1b2	T	C	8: 69,541,586 (GRCm39)		probably null	Het
Chuk	T	C	19: 44,076,462 (GRCm39)	I416M	possibly damaging	Het
Cimip2b	G	A	4: 43,428,158 (GRCm39)	R100W	possibly damaging	Het
Dmbt1	A	T	7: 130,701,020 (GRCm39)	Q1066L	possibly damaging	Het
Dnah5	A	G	15: 28,421,766 (GRCm39)	T3873A	probably damaging	Het
Endog	C	T	2: 30,062,912 (GRCm39)	T184M	probably damaging	Het
Fcgbp	T	C	7: 27,800,966 (GRCm39)		probably benign	Het
Flii	A	G	11: 60,606,659 (GRCm39)	I1061T	probably benign	Het
Hdac2	T	A	10: 36,873,067 (GRCm39)	N308K	probably damaging	Het
Hoxa2	T	G	6: 52,140,497 (GRCm39)	Y163S	probably damaging	Het
Hsd3b7	T	C	7: 127,402,144 (GRCm39)	L263P	probably damaging	Het
Klf17	T	C	4: 117,618,235 (GRCm39)	T41A	probably benign	Het
Lrrfip1	T	C	1: 90,996,343 (GRCm39)	M42T	probably damaging	Het
Mapk8ip1	C	T	2: 92,215,533 (GRCm39)	V614I	probably benign	Het
Mocs1	T	G	17: 49,742,292 (GRCm39)		probably null	Het
Moxd1	T	C	10: 24,158,453 (GRCm39)		probably benign	Het
Mterf1a	T	C	5: 3,941,610 (GRCm39)	E86G	probably damaging	Het
Muc4	A	G	16: 32,574,613 (GRCm39)	D1021G	probably benign	Het
Nomo1	T	C	7: 45,694,760 (GRCm39)	S212P	possibly damaging	Het
Or5b116	A	G	19: 13,422,988 (GRCm39)	D204G	probably benign	Het
Or8c15	T	A	9: 38,120,534 (GRCm39)	Y60N	probably damaging	Het
Phf21a	A	C	2: 92,178,374 (GRCm39)	T385P	probably damaging	Het
Piwil4	A	T	9: 14,626,327 (GRCm39)		probably benign	Het
Pknox1	T	C	17: 31,818,619 (GRCm39)		probably null	Het
Prr14l	T	C	5: 32,988,410 (GRCm39)	I362V	probably benign	Het
Sergef	C	T	7: 46,284,844 (GRCm39)		probably null	Het
Sez6l	T	C	5: 112,572,511 (GRCm39)	D948G	probably damaging	Het
Skor1	A	T	9: 63,053,723 (GRCm39)	L54Q	probably damaging	Het
Sntn	C	T	14: 13,679,086 (GRCm38)	Q87*	probably null	Het
Syde2	A	G	3: 145,720,096 (GRCm39)	K772E	possibly damaging	Het
Taf2	T	A	15: 54,934,845 (GRCm39)		probably null	Het
Tbc1d13	T	A	2: 30,030,523 (GRCm39)	Y113N	probably damaging	Het
Tmem154	T	C	3: 84,591,722 (GRCm39)	F91L	probably benign	Het
Tmem63a	A	G	1: 180,794,062 (GRCm39)	D533G	possibly damaging	Het
Trip12	A	T	1: 84,708,262 (GRCm39)	D603E	probably damaging	Het
Trmt11	T	C	10: 30,442,445 (GRCm39)	D246G	probably damaging	Het
Vmn1r174	T	A	7: 23,453,958 (GRCm39)	M208K	possibly damaging	Het
Wdr54	T	C	6: 83,132,755 (GRCm39)	H33R	probably benign	Het
Zfp207	A	G	11: 80,279,828 (GRCm39)	D111G	probably benign	Het

Other mutations in Tmprss15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00477:Tmprss15	APN	16	78,818,301 (GRCm39)	missense	probably damaging	1.00
IGL01583:Tmprss15	APN	16	78,868,149 (GRCm39)	missense	probably benign
IGL01896:Tmprss15	APN	16	78,887,678 (GRCm39)	missense	probably benign	0.22
IGL02052:Tmprss15	APN	16	78,884,394 (GRCm39)	missense	probably damaging	1.00
IGL02374:Tmprss15	APN	16	78,832,056 (GRCm39)	missense	probably benign	0.00
IGL02505:Tmprss15	APN	16	78,784,629 (GRCm39)	missense	probably benign	0.00
IGL02632:Tmprss15	APN	16	78,782,790 (GRCm39)	missense	probably damaging	0.98
IGL02674:Tmprss15	APN	16	78,798,682 (GRCm39)	missense	possibly damaging	0.72
beached	UTSW	16	78,821,736 (GRCm39)	missense	possibly damaging	0.62
Cellulite	UTSW	16	78,754,259 (GRCm39)	missense	probably damaging	1.00
lolling	UTSW	16	78,800,298 (GRCm39)	missense	probably benign	0.26
miniature	UTSW	16	78,854,497 (GRCm39)	critical splice donor site	probably null
PIT1430001:Tmprss15	UTSW	16	78,821,640 (GRCm39)	critical splice donor site	probably null
R0106:Tmprss15	UTSW	16	78,800,277 (GRCm39)	missense	probably damaging	0.99
R0106:Tmprss15	UTSW	16	78,800,277 (GRCm39)	missense	probably damaging	0.99
R0195:Tmprss15	UTSW	16	78,831,222 (GRCm39)	missense	probably benign	0.05
R0335:Tmprss15	UTSW	16	78,821,630 (GRCm39)	splice site	probably benign
R0514:Tmprss15	UTSW	16	78,765,155 (GRCm39)	missense	probably benign	0.05
R0552:Tmprss15	UTSW	16	78,821,637 (GRCm39)	splice site	probably null
R0675:Tmprss15	UTSW	16	78,782,838 (GRCm39)	missense	probably damaging	0.98
R0739:Tmprss15	UTSW	16	78,821,736 (GRCm39)	missense	possibly damaging	0.62
R1435:Tmprss15	UTSW	16	78,818,342 (GRCm39)	missense	probably benign	0.03
R1446:Tmprss15	UTSW	16	78,875,846 (GRCm39)	missense	probably benign	0.01
R1572:Tmprss15	UTSW	16	78,887,717 (GRCm39)	missense	probably benign	0.00
R1708:Tmprss15	UTSW	16	78,850,958 (GRCm39)	missense	possibly damaging	0.95
R1893:Tmprss15	UTSW	16	78,868,306 (GRCm39)	missense	probably benign
R2403:Tmprss15	UTSW	16	78,854,578 (GRCm39)	missense	probably damaging	1.00
R2866:Tmprss15	UTSW	16	78,832,121 (GRCm39)	missense	possibly damaging	0.65
R2913:Tmprss15	UTSW	16	78,759,078 (GRCm39)	missense	probably benign	0.45
R2914:Tmprss15	UTSW	16	78,759,078 (GRCm39)	missense	probably benign	0.45
R3425:Tmprss15	UTSW	16	78,800,321 (GRCm39)	missense	possibly damaging	0.83
R3703:Tmprss15	UTSW	16	78,851,030 (GRCm39)	critical splice acceptor site	probably null
R3916:Tmprss15	UTSW	16	78,782,884 (GRCm39)	missense	probably damaging	1.00
R3950:Tmprss15	UTSW	16	78,870,074 (GRCm39)	missense	probably benign	0.04
R4332:Tmprss15	UTSW	16	78,831,222 (GRCm39)	missense	probably benign	0.15
R4392:Tmprss15	UTSW	16	78,821,326 (GRCm39)	missense	probably damaging	1.00
R4515:Tmprss15	UTSW	16	78,754,244 (GRCm39)	missense	probably benign	0.00
R4619:Tmprss15	UTSW	16	78,818,358 (GRCm39)	missense	probably damaging	1.00
R4620:Tmprss15	UTSW	16	78,818,358 (GRCm39)	missense	probably damaging	1.00
R4754:Tmprss15	UTSW	16	78,851,012 (GRCm39)	missense	probably damaging	0.98
R4853:Tmprss15	UTSW	16	78,757,479 (GRCm39)	missense	probably benign
R5159:Tmprss15	UTSW	16	78,800,298 (GRCm39)	missense	probably benign	0.26
R5441:Tmprss15	UTSW	16	78,868,335 (GRCm39)	critical splice acceptor site	probably null
R5824:Tmprss15	UTSW	16	78,831,201 (GRCm39)	missense	probably damaging	0.99
R5970:Tmprss15	UTSW	16	78,854,547 (GRCm39)	missense	probably benign	0.00
R6224:Tmprss15	UTSW	16	78,821,266 (GRCm39)	missense	probably benign	0.08
R6257:Tmprss15	UTSW	16	78,769,113 (GRCm39)	missense	probably damaging	1.00
R6313:Tmprss15	UTSW	16	78,759,058 (GRCm39)	missense	probably benign	0.16
R6368:Tmprss15	UTSW	16	78,802,945 (GRCm39)	splice site	probably null
R6525:Tmprss15	UTSW	16	78,800,266 (GRCm39)	missense	probably damaging	0.97
R6587:Tmprss15	UTSW	16	78,868,317 (GRCm39)	missense	probably benign
R6894:Tmprss15	UTSW	16	78,872,702 (GRCm39)	nonsense	probably null
R7018:Tmprss15	UTSW	16	78,821,741 (GRCm39)	missense	possibly damaging	0.78
R7180:Tmprss15	UTSW	16	78,764,886 (GRCm39)	missense	probably damaging	0.97
R7324:Tmprss15	UTSW	16	78,758,907 (GRCm39)	missense	probably damaging	1.00
R7337:Tmprss15	UTSW	16	78,868,164 (GRCm39)	missense	probably benign	0.01
R7558:Tmprss15	UTSW	16	78,800,302 (GRCm39)	missense	possibly damaging	0.55
R7732:Tmprss15	UTSW	16	78,800,308 (GRCm39)	missense	probably benign	0.11
R7792:Tmprss15	UTSW	16	78,800,275 (GRCm39)	missense	probably damaging	1.00
R7829:Tmprss15	UTSW	16	78,784,538 (GRCm39)	missense	probably benign	0.02
R7998:Tmprss15	UTSW	16	78,798,731 (GRCm39)	missense	possibly damaging	0.79
R8009:Tmprss15	UTSW	16	78,887,751 (GRCm39)	missense	probably damaging	0.96
R8145:Tmprss15	UTSW	16	78,757,473 (GRCm39)	missense	probably damaging	1.00
R8183:Tmprss15	UTSW	16	78,884,400 (GRCm39)	missense	probably benign	0.04
R8221:Tmprss15	UTSW	16	78,821,223 (GRCm39)	missense	probably damaging	0.99
R8294:Tmprss15	UTSW	16	78,868,176 (GRCm39)	missense	probably benign
R8537:Tmprss15	UTSW	16	78,884,403 (GRCm39)	missense	probably damaging	0.99
R8735:Tmprss15	UTSW	16	78,798,702 (GRCm39)	missense	possibly damaging	0.88
R8858:Tmprss15	UTSW	16	78,854,497 (GRCm39)	critical splice donor site	probably null
R8869:Tmprss15	UTSW	16	78,750,834 (GRCm39)	nonsense	probably null
R8884:Tmprss15	UTSW	16	78,821,657 (GRCm39)	missense	probably benign	0.00
R9014:Tmprss15	UTSW	16	78,872,691 (GRCm39)	missense	probably benign	0.04
R9075:Tmprss15	UTSW	16	78,754,259 (GRCm39)	missense	probably damaging	1.00
R9351:Tmprss15	UTSW	16	78,832,086 (GRCm39)	missense	probably damaging	1.00
R9393:Tmprss15	UTSW	16	78,754,211 (GRCm39)	missense	probably benign	0.01
R9747:Tmprss15	UTSW	16	78,884,400 (GRCm39)	missense	probably benign	0.04
R9767:Tmprss15	UTSW	16	78,875,977 (GRCm39)	missense	probably damaging	1.00
R9783:Tmprss15	UTSW	16	78,887,890 (GRCm39)	start gained	probably benign
RF005:Tmprss15	UTSW	16	78,750,689 (GRCm39)	makesense	probably null

Posted On

2015-08-05