Mutagenetix > Incidental Mutation

Incidental Mutation 'R8051:Try4'

619049

Institutional Source

Beutler Lab

Gene Symbol

Try4

Ensembl Gene

ENSMUSG00000054106

Gene Name

trypsin 4

Synonyms

0910001B19Rik, Td

MMRRC Submission

067488-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8051 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41302269-41305532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41305062 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 194 (D194G)

Ref Sequence

ENSEMBL: ENSMUSP00000031913 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031913]

AlphaFold

Q9R0T7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031913
AA Change: D194G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031913
Gene: ENSMUSG00000054106
AA Change: D194G

Domain	Start	End	E-Value	Type
low complexity region	3	16	N/A	INTRINSIC
Tryp_SPc	23	239	9.72e-105	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	G	A	11: 78,273,412 (GRCm38)		probably benign	Het
Acan	T	A	7: 79,100,779 (GRCm38)	L1766Q	probably damaging	Het
Adgrl3	A	G	5: 81,465,266 (GRCm38)	Y114C	probably damaging	Het
Ano9	T	A	7: 141,104,532 (GRCm38)	I472F	probably damaging	Het
Arhgap10	A	G	8: 77,517,680 (GRCm38)	F35S	probably damaging	Het
Btnl2	T	A	17: 34,363,499 (GRCm38)	D346E	probably damaging	Het
C4bp	A	T	1: 130,655,968 (GRCm38)	C88S	probably damaging	Het
Cavin2	A	T	1: 51,301,124 (GRCm38)	Q320L	probably benign	Het
Chtf18	C	A	17: 25,723,479 (GRCm38)	V462L	probably benign	Het
Crisp3	A	T	17: 40,232,560 (GRCm38)	S134R	probably benign	Het
Dlg4	C	A	11: 70,031,642 (GRCm38)		probably benign	Het
Dsc3	A	T	18: 19,981,213 (GRCm38)	M328K	probably damaging	Het
Efemp2	T	A	19: 5,476,067 (GRCm38)	D73E	probably damaging	Het
Fbn1	C	T	2: 125,306,463 (GRCm38)	A2622T	possibly damaging	Het
Flt1	T	C	5: 147,582,691 (GRCm38)	H938R	probably benign	Het
Flt3	T	G	5: 147,358,955 (GRCm38)		probably benign	Het
Fnbp4	T	C	2: 90,777,739 (GRCm38)	V935A	possibly damaging	Het
Frem2	T	C	3: 53,535,355 (GRCm38)	N2587S	probably benign	Het
Gabbr2	C	T	4: 46,736,349 (GRCm38)		probably null	Het
Gm36864	A	T	7: 44,242,552 (GRCm38)	I385F	probably benign	Het
Il17re	G	T	6: 113,459,367 (GRCm38)	R47L	probably benign	Het
Il27ra	A	G	8: 84,033,949 (GRCm38)		probably null	Het
Irf4	A	G	13: 30,761,473 (GRCm38)	I401V	probably damaging	Het
Kat6a	T	C	8: 22,910,249 (GRCm38)	L342S	probably damaging	Het
Klc1	T	A	12: 111,781,950 (GRCm38)	C390S	possibly damaging	Het
Klhl22	A	T	16: 17,792,579 (GRCm38)	I565F	probably damaging	Het
Krt26	A	T	11: 99,337,846 (GRCm38)	L20Q	probably damaging	Het
Lamb3	T	C	1: 193,330,067 (GRCm38)	V384A	possibly damaging	Het
Lmo2	T	A	2: 103,970,700 (GRCm38)	L80Q	possibly damaging	Het
Lrrc37a	T	G	11: 103,503,126 (GRCm38)	E491A	possibly damaging	Het
Ninj1	T	A	13: 49,193,812 (GRCm38)	M51K	probably damaging	Het
Olfr109	G	A	17: 37,466,322 (GRCm38)	G39R	probably damaging	Het
Olfr742	C	A	14: 50,515,643 (GRCm38)	N146K	probably benign	Het
Plppr3	T	A	10: 79,867,004 (GRCm38)	T142S	probably damaging	Het
Rab2b	T	C	14: 52,268,696 (GRCm38)	D103G	probably damaging	Het
Rap1gap2	G	T	11: 74,395,825 (GRCm38)	R550S	probably damaging	Het
Rbm33	A	G	5: 28,352,625 (GRCm38)	N279D	probably damaging	Het
Rhox9	C	T	X: 37,901,376 (GRCm38)	G40R	probably benign	Het
Selplg	G	A	5: 113,819,441 (GRCm38)	T268I	probably damaging	Het
Slc20a1	T	C	2: 129,208,200 (GRCm38)	M426T	possibly damaging	Het
Spata18	A	T	5: 73,669,720 (GRCm38)	Y220F		Het
Spns1	T	C	7: 126,372,536 (GRCm38)	T281A	probably benign	Het
Sptan1	C	T	2: 30,030,159 (GRCm38)	R2288C	probably damaging	Het
Tacstd2	T	C	6: 67,535,399 (GRCm38)	D103G	probably damaging	Het
Tmem121	C	T	12: 113,188,867 (GRCm38)	A235V	probably benign	Het
Tyrp1	C	A	4: 80,837,660 (GRCm38)	T222K	probably damaging	Het
Zfp57	T	A	17: 37,009,893 (GRCm38)	V213D	probably damaging	Het
Zfy2	A	T	Y: 2,117,380 (GRCm38)		probably benign	Het
Zkscan4	G	A	13: 21,484,653 (GRCm38)	G454R	not run	Het

Other mutations in Try4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01773:Try4	APN	6	41,305,026 (GRCm38)	missense	probably damaging	1.00
IGL02216:Try4	APN	6	41,305,031 (GRCm38)	missense	probably benign
R0537:Try4	UTSW	6	41,304,362 (GRCm38)	missense	probably benign
R0731:Try4	UTSW	6	41,304,367 (GRCm38)	missense	probably benign	0.01
R1113:Try4	UTSW	6	41,305,374 (GRCm38)	missense	possibly damaging	0.90
R1833:Try4	UTSW	6	41,303,431 (GRCm38)	missense	probably damaging	0.98
R2246:Try4	UTSW	6	41,305,472 (GRCm38)	missense	possibly damaging	0.80
R4131:Try4	UTSW	6	41,305,401 (GRCm38)	nonsense	probably null
R4414:Try4	UTSW	6	41,304,971 (GRCm38)	missense	possibly damaging	0.84
R5457:Try4	UTSW	6	41,303,421 (GRCm38)	missense	probably damaging	1.00
R5707:Try4	UTSW	6	41,305,043 (GRCm38)	missense	possibly damaging	0.65
R6023:Try4	UTSW	6	41,303,421 (GRCm38)	missense	probably damaging	1.00
R7131:Try4	UTSW	6	41,304,403 (GRCm38)	missense	probably benign	0.03
R7783:Try4	UTSW	6	41,302,295 (GRCm38)	missense	possibly damaging	0.96
R9320:Try4	UTSW	6	41,305,074 (GRCm38)	critical splice donor site	probably null
R9730:Try4	UTSW	6	41,305,062 (GRCm38)	missense	probably damaging	1.00
RF007:Try4	UTSW	6	41,305,363 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGTCTGTAGACTTTCTCCACTGG -3'
(R):5'- AGATGCCATTCTAGCCATGC -3'

Sequencing Primer
(F):5'- CACTGGAATATTAATGTCTATCCTGG -3'
(R):5'- ATGCCATTCTAGCCATGCTTTGC -3'

Posted On

2020-01-23