Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02001:Try10'

183031

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Try10

Ensembl Gene

ENSMUSG00000071521

Gene Name

trypsin 10

Synonyms

trypsinogen 10

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

IGL02001

Quality Score

Status

Chromosome

Chromosomal Location

41331039-41334848 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41333523 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 89 (D89E)

Ref Sequence

ENSEMBL: ENSMUSP00000071976 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072103]

AlphaFold

Q792Z1

Predicted Effect

probably benign
Transcript: ENSMUST00000072103
AA Change: D89E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000071976
Gene: ENSMUSG00000071521
AA Change: D89E

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Tryp_SPc	23	239	3.38e-104	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a trypsinogen, which is a member of the trypsin family of serine proteases. This enzyme is secreted by the pancreas and cleaved to its active form in the small intestine. It is active on peptide linkages involving the carboxyl group of lysine or arginine. Mutations in this gene are associated with hereditary pancreatitis. This gene and several other trypsinogen genes are localized to the T cell receptor beta locus on chromosome 7. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530064D06Rik	T	C	17: 48,473,842 (GRCm39)	N25S	possibly damaging	Het
Als2	A	T	1: 59,219,347 (GRCm39)		probably benign	Het
Asah2	T	A	19: 32,020,939 (GRCm39)	K255*	probably null	Het
Bclaf1	A	G	10: 20,198,762 (GRCm39)		probably benign	Het
Bpifb2	T	C	2: 153,733,195 (GRCm39)		probably benign	Het
Cacna2d2	G	A	9: 107,399,315 (GRCm39)	V669I	probably benign	Het
Cep89	T	A	7: 35,102,432 (GRCm39)		probably benign	Het
Chl1	T	G	6: 103,619,017 (GRCm39)	L29R	possibly damaging	Het
Defb2	T	C	8: 22,333,353 (GRCm39)	Y43H	probably damaging	Het
Disc1	A	G	8: 125,977,781 (GRCm39)	Y799C	probably damaging	Het
Egf	G	T	3: 129,510,417 (GRCm39)	A34E	probably damaging	Het
Fat2	A	T	11: 55,203,071 (GRCm39)	M1K	probably null	Het
Gprin1	T	C	13: 54,887,005 (GRCm39)	E423G	probably damaging	Het
Kcnh6	T	C	11: 105,918,375 (GRCm39)		probably benign	Het
Kcnt1	A	G	2: 25,798,164 (GRCm39)	E925G	probably damaging	Het
Kctd16	A	T	18: 40,391,733 (GRCm39)	K107I	possibly damaging	Het
Lrig1	T	C	6: 94,584,305 (GRCm39)	K913R	probably benign	Het
Marchf7	A	G	2: 60,065,235 (GRCm39)	T504A	possibly damaging	Het
Mrpl11	C	T	19: 5,013,680 (GRCm39)	R154*	probably null	Het
Nlrp4a	T	C	7: 26,149,394 (GRCm39)	F334L	probably benign	Het
Or2z2	C	T	11: 58,346,335 (GRCm39)	V147M	probably benign	Het
Or55b10	T	A	7: 102,143,746 (GRCm39)	T79S	probably benign	Het
Parp6	A	G	9: 59,557,244 (GRCm39)	T610A	possibly damaging	Het
Pcdhb15	T	G	18: 37,607,091 (GRCm39)	L108V	probably benign	Het
Pomgnt1	G	T	4: 116,010,105 (GRCm39)	E156*	probably null	Het
Psma2	T	G	13: 14,798,192 (GRCm39)	F105V	possibly damaging	Het
Rapgef4	A	G	2: 72,055,396 (GRCm39)		probably benign	Het
Sclt1	A	T	3: 41,636,156 (GRCm39)	S282T	possibly damaging	Het
Semp2l2b	A	T	10: 21,943,176 (GRCm39)	M268K	probably benign	Het
Serpina3f	A	G	12: 104,185,725 (GRCm39)	Y310C	probably damaging	Het
Sh3pxd2a	T	C	19: 47,261,886 (GRCm39)	K331R	probably damaging	Het
Tectb	T	C	19: 55,178,027 (GRCm39)	F183L	possibly damaging	Het
Tgfbr1	A	G	4: 47,403,388 (GRCm39)	H327R	probably damaging	Het
Ttn	G	A	2: 76,587,128 (GRCm39)	S21623L	probably damaging	Het
Ttn	A	G	2: 76,612,282 (GRCm39)	L15489P	probably damaging	Het
Vdac3-ps1	A	G	13: 18,205,973 (GRCm39)		noncoding transcript	Het
Vmn2r69	T	A	7: 85,056,434 (GRCm39)	Q568L	probably benign	Het
Wdr36	T	A	18: 32,985,941 (GRCm39)	D548E	probably damaging	Het
Zfand4	T	A	6: 116,250,613 (GRCm39)	H14Q	probably benign	Het

Other mutations in Try10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02608:Try10	APN	6	41,332,421 (GRCm39)	missense	probably damaging	1.00
IGL03280:Try10	APN	6	41,331,154 (GRCm39)	missense	probably benign	0.18
R0332:Try10	UTSW	6	41,331,154 (GRCm39)	missense	probably benign	0.18
R1628:Try10	UTSW	6	41,334,390 (GRCm39)	missense	probably damaging	1.00
R2149:Try10	UTSW	6	41,333,495 (GRCm39)	missense	probably benign	0.02
R2471:Try10	UTSW	6	41,333,680 (GRCm39)	missense	probably damaging	1.00
R3764:Try10	UTSW	6	41,333,458 (GRCm39)	missense	probably benign	0.07
R4008:Try10	UTSW	6	41,333,608 (GRCm39)	missense	probably benign	0.00
R4660:Try10	UTSW	6	41,334,761 (GRCm39)	missense	probably damaging	1.00
R4792:Try10	UTSW	6	41,332,386 (GRCm39)	missense	probably benign	0.33
R5185:Try10	UTSW	6	41,333,483 (GRCm39)	missense	probably damaging	0.96
R6103:Try10	UTSW	6	41,333,484 (GRCm39)	missense	probably damaging	0.98
R6301:Try10	UTSW	6	41,332,523 (GRCm39)	missense	probably benign	0.30
R6692:Try10	UTSW	6	41,334,755 (GRCm39)	missense	probably damaging	1.00
R7786:Try10	UTSW	6	41,332,463 (GRCm39)	missense	possibly damaging	0.86
R8391:Try10	UTSW	6	41,334,306 (GRCm39)	missense	probably damaging	1.00
R9309:Try10	UTSW	6	41,333,559 (GRCm39)	missense	probably benign
R9636:Try10	UTSW	6	41,332,505 (GRCm39)	missense	probably benign	0.00
R9697:Try10	UTSW	6	41,331,041 (GRCm39)	start gained	probably benign

Posted On

2014-05-07