Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00477:Tmprss15'

3953

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 #

IGL00477

Quality Score

Status

Chromosome

Chromosomal Location

78749896-78887985 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78818301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 543 (V543A)

Ref Sequence

ENSEMBL: ENSMUSP00000052034 (fasta)

Gene Model

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

AlphaFold

P97435

Predicted Effect

probably damaging
Transcript: ENSMUST00000023566
AA Change: V558A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000023566
Gene: ENSMUSG00000022857
AA Change: V558A

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

probably damaging
Transcript: ENSMUST00000060402
AA Change: V543A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000052034
Gene: ENSMUSG00000022857
AA Change: V543A

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933411G06Rik	T	A	10: 51,632,867 (GRCm39)		noncoding transcript	Het
Bmal2	A	G	6: 146,728,827 (GRCm39)		probably benign	Het
Cntnap5b	A	G	1: 100,141,468 (GRCm39)	T575A	probably damaging	Het
Dapl1	T	C	2: 59,324,832 (GRCm39)	S28P	probably benign	Het
Dnmbp	T	A	19: 43,890,918 (GRCm39)	E283V	probably damaging	Het
Fastkd3	G	A	13: 68,732,647 (GRCm39)	V323I	possibly damaging	Het
Gtpbp2	G	T	17: 46,479,180 (GRCm39)	G581C	probably damaging	Het
Igsf5	A	G	16: 96,192,220 (GRCm39)	E173G	possibly damaging	Het
Mat1a	T	C	14: 40,827,651 (GRCm39)		probably benign	Het
Mmp1a	T	A	9: 7,476,260 (GRCm39)	D452E	probably benign	Het
Ncapd2	A	T	6: 125,150,388 (GRCm39)	M879K	probably benign	Het
Plce1	A	T	19: 38,513,576 (GRCm39)	T292S	probably benign	Het
Qrsl1	G	T	10: 43,752,488 (GRCm39)	T445N	probably damaging	Het
Rad50	T	C	11: 53,577,138 (GRCm39)		probably benign	Het
Serpina1f	A	G	12: 103,658,128 (GRCm39)	M259T	probably benign	Het
Usp34	C	T	11: 23,418,879 (GRCm39)	T3009I	probably damaging	Het
Usp7	A	T	16: 8,515,839 (GRCm39)	I661N	probably damaging	Het
Virma	T	G	4: 11,519,006 (GRCm39)	L751R	probably damaging	Het

Other mutations in Tmprss15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Tmprss15	APN	16	78,782,882 (GRCm39)	missense	possibly damaging	0.87
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

2012-04-20