Mutagenetix > Incidental Mutation

Incidental Mutation 'R2848:Try5'

251834

Institutional Source

Beutler Lab

Gene Symbol

Try5

Ensembl Gene

ENSMUSG00000036938

Gene Name

trypsin 5

Synonyms

Tc, 1810049H19Rik

MMRRC Submission

040441-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R2848 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41288166-41291644 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41290410 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 25 (V25I)

Ref Sequence

ENSEMBL: ENSMUSP00000064498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064324] [ENSMUST00000173916]

AlphaFold

Q9QUK9

Predicted Effect

probably benign
Transcript: ENSMUST00000064324
AA Change: V25I

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

SMART Domains

Protein: ENSMUSP00000064498
Gene: ENSMUSG00000036938
AA Change: V25I

Domain	Start	End	E-Value	Type
low complexity region	4	16	N/A	INTRINSIC
Tryp_SPc	23	239	1.47e-104	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000173916

SMART Domains

Protein: ENSMUSP00000133640
Gene: ENSMUSG00000036938

Domain	Start	End	E-Value	Type
Tryp_SPc	1	131	1.21e-27	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451I11Rik	A	T	7: 126,429,894 (GRCm39)	F101Y	possibly damaging	Het
Abca17	G	C	17: 24,508,481 (GRCm39)	T1018R	probably damaging	Het
Adamts14	T	A	10: 61,054,214 (GRCm39)	Q606L	probably damaging	Het
Adgrf5	C	A	17: 43,733,531 (GRCm39)	N118K	possibly damaging	Het
Baz2b	A	T	2: 59,755,010 (GRCm39)	Y1073N	possibly damaging	Het
Celf2	T	C	2: 6,608,936 (GRCm39)	R282G	probably damaging	Het
Cntnap5c	A	T	17: 58,183,387 (GRCm39)	D31V	probably damaging	Het
Cobl	A	G	11: 12,328,342 (GRCm39)	L81P	probably damaging	Het
Cpsf1	A	T	15: 76,487,051 (GRCm39)	L209Q	probably damaging	Het
Crocc	G	A	4: 140,746,067 (GRCm39)	A1684V	probably damaging	Het
Cyp4f37	T	A	17: 32,848,099 (GRCm39)	C206S	probably damaging	Het
Dnah3	A	G	7: 119,567,161 (GRCm39)	V2355A	probably benign	Het
Dnah6	T	C	6: 73,106,314 (GRCm39)	K1756E	probably benign	Het
Fis1	T	C	5: 136,991,971 (GRCm39)	I55T	possibly damaging	Het
Gm2381	G	A	7: 42,469,831 (GRCm39)	P98S	probably damaging	Het
Gpr37	C	T	6: 25,666,945 (GRCm39)		probably benign	Het
Grin2a	A	G	16: 9,579,829 (GRCm39)	F145L	possibly damaging	Het
Htr4	T	C	18: 62,561,197 (GRCm39)	S153P	probably damaging	Het
Igkv9-120	T	A	6: 68,027,128 (GRCm39)		probably benign	Het
Il12rb1	G	A	8: 71,268,446 (GRCm39)	W396*	probably null	Het
Itga8	A	T	2: 12,165,215 (GRCm39)	V798D	probably damaging	Het
Lfng	T	A	5: 140,597,622 (GRCm39)	D149E	probably damaging	Het
Magi2	A	AG	5: 20,807,459 (GRCm39)		probably null	Het
Mgam	C	A	6: 40,629,649 (GRCm39)	A86E	possibly damaging	Het
Myh4	A	G	11: 67,139,459 (GRCm39)	N592S	probably benign	Het
Naa16	A	G	14: 79,573,323 (GRCm39)	C816R	probably damaging	Het
Nek8	A	G	11: 78,058,967 (GRCm39)	S513P	probably damaging	Het
Ociad1	A	G	5: 73,451,694 (GRCm39)		probably null	Het
Or1j4	A	G	2: 36,740,811 (GRCm39)	Y251C	probably damaging	Het
Or2t35	C	T	14: 14,407,398 (GRCm38)	P57S	probably damaging	Het
Or4g7	T	C	2: 111,309,699 (GRCm39)	M190T	probably benign	Het
Osbpl8	T	A	10: 111,105,297 (GRCm39)	S251T	probably benign	Het
Pcdh7	G	A	5: 57,877,618 (GRCm39)	G391E	probably damaging	Het
Pcdhga10	T	A	18: 37,881,253 (GRCm39)	V338E	possibly damaging	Het
Pde4b	C	T	4: 102,458,742 (GRCm39)	A466V	probably damaging	Het
Peg10	C	T	6: 4,756,912 (GRCm39)		probably benign	Het
Poteg	A	T	8: 27,971,704 (GRCm39)	N406I	probably benign	Het
Ppargc1a	A	G	5: 51,631,151 (GRCm39)	F493L	probably benign	Het
Ptpra	C	A	2: 130,386,919 (GRCm39)	H603Q	probably benign	Het
Rnf10	T	C	5: 115,387,171 (GRCm39)	D439G	probably benign	Het
Shfl	A	T	9: 20,784,868 (GRCm39)	H225L	probably damaging	Het
Syt3	G	A	7: 44,042,866 (GRCm39)	V383I	probably benign	Het
Tectb	C	G	19: 55,169,431 (GRCm39)		probably benign	Het
Ttn	G	T	2: 76,749,551 (GRCm39)	Q3833K	probably benign	Het
Usp53	G	A	3: 122,728,140 (GRCm39)	P814L	probably benign	Het
Utp25	A	T	1: 192,810,759 (GRCm39)	N81K	probably benign	Het
Vmn1r181	G	T	7: 23,683,943 (GRCm39)	S136I	possibly damaging	Het
Vmn2r114	A	T	17: 23,509,948 (GRCm39)	M844K	probably benign	Het
Vwa8	G	T	14: 79,184,582 (GRCm39)	R360L	probably benign	Het
Xlr4b	A	T	X: 72,258,938 (GRCm39)	Q25L	probably null	Het
Zfp532	T	A	18: 65,789,697 (GRCm39)	H1045Q	possibly damaging	Het
Zfp985	G	A	4: 147,667,468 (GRCm39)	W112*	probably null	Het

Other mutations in Try5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01837:Try5	APN	6	41,290,358 (GRCm39)	missense	probably benign	0.31
IGL01885:Try5	APN	6	41,288,672 (GRCm39)	missense	possibly damaging	0.93
IGL02652:Try5	APN	6	41,288,342 (GRCm39)	missense	probably benign	0.01
R1955:Try5	UTSW	6	41,288,703 (GRCm39)	missense	probably benign	0.17
R2014:Try5	UTSW	6	41,291,585 (GRCm39)	splice site	probably null
R2015:Try5	UTSW	6	41,291,585 (GRCm39)	splice site	probably null
R4227:Try5	UTSW	6	41,290,401 (GRCm39)	missense	possibly damaging	0.65
R4685:Try5	UTSW	6	41,288,233 (GRCm39)	missense	possibly damaging	0.59
R4816:Try5	UTSW	6	41,290,349 (GRCm39)	missense	probably benign	0.18
R5230:Try5	UTSW	6	41,289,312 (GRCm39)	missense	probably benign	0.19
R5658:Try5	UTSW	6	41,289,361 (GRCm39)	missense	probably damaging	1.00
R6518:Try5	UTSW	6	41,291,613 (GRCm39)	missense	probably benign
R6910:Try5	UTSW	6	41,288,733 (GRCm39)	missense	possibly damaging	0.62
R6913:Try5	UTSW	6	41,288,266 (GRCm39)	missense	probably damaging	1.00
R7219:Try5	UTSW	6	41,288,637 (GRCm39)	missense	probably damaging	1.00
R7242:Try5	UTSW	6	41,290,388 (GRCm39)	missense	probably benign	0.09
R7444:Try5	UTSW	6	41,288,299 (GRCm39)	missense	probably benign	0.00
R7575:Try5	UTSW	6	41,288,748 (GRCm39)	missense	probably benign	0.05
R7585:Try5	UTSW	6	41,288,748 (GRCm39)	missense	probably benign	0.14
R8011:Try5	UTSW	6	41,290,421 (GRCm39)	missense	probably benign	0.12
R8739:Try5	UTSW	6	41,288,637 (GRCm39)	missense	probably damaging	1.00
R8991:Try5	UTSW	6	41,289,295 (GRCm39)	missense	probably benign	0.18
R9397:Try5	UTSW	6	41,289,314 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ATGATGTCCCAGTCTAGTGGC -3'
(R):5'- CTTGTATGCATTAAGAACCCCTAG -3'

Sequencing Primer
(F):5'- CTAGTGGCACTGTTCTCAGGTAAC -3'
(R):5'- CCTGGTGTACAACATGAGTTCCAG -3'

Posted On

2014-12-04