Mutagenetix > Incidental Mutation

Incidental Mutation 'R2246:Try4'

240853

Institutional Source

Beutler Lab

Gene Symbol

Try4

Ensembl Gene

ENSMUSG00000054106

Gene Name

trypsin 4

Synonyms

0910001B19Rik, Td

MMRRC Submission

040246-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2246 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41302269-41305532 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41305472 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 242 (T242I)

Ref Sequence

ENSEMBL: ENSMUSP00000031913 (fasta)

Gene Model

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

AlphaFold

Q9R0T7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031913
AA Change: T242I

PolyPhen 2 Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000031913
Gene: ENSMUSG00000054106
AA Change: T242I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193013

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	A	15: 84,417,199	H81L	probably damaging	Het
Alms1	T	G	6: 85,622,967	S1592A	possibly damaging	Het
Anapc16	G	T	10: 59,996,476	Y38*	probably null	Het
Clec7a	T	A	6: 129,467,569	H101L	probably benign	Het
Cwf19l2	A	G	9: 3,430,661	D331G	probably benign	Het
D230025D16Rik	T	A	8: 105,246,500	D247E	possibly damaging	Het
Dcaf1	A	G	9: 106,854,177	T618A	possibly damaging	Het
Dysf	G	A	6: 84,186,509		probably null	Het
Fn1	A	T	1: 71,628,535	D766E	probably benign	Het
Ggta1	T	C	2: 35,402,109	*395W	probably null	Het
Grik2	C	T	10: 49,535,436	R202H	probably damaging	Het
Hcls1	G	T	16: 36,962,622	S445I	probably damaging	Het
Hip1	A	C	5: 135,452,844	S166R	probably damaging	Het
Hivep2	C	A	10: 14,128,969	T437K	probably benign	Het
Igsf9	T	A	1: 172,491,649	S236R	probably benign	Het
Knl1	C	T	2: 119,072,227	P1470S	probably damaging	Het
Ldb3	A	T	14: 34,529,475	H675Q	probably damaging	Het
Olfr1122	T	A	2: 87,387,851	S49T	probably benign	Het
Olfr479	C	T	7: 108,055,782	R267C	probably benign	Het
Olfr803	A	G	10: 129,691,943	Y33H	probably damaging	Het
Palld	T	C	8: 61,877,135	D236G	probably benign	Het
Pank3	A	G	11: 35,783,506	K332R	probably benign	Het
Pramef6	A	G	4: 143,897,220	V128A	probably benign	Het
Prrc2c	A	G	1: 162,707,791		probably benign	Het
Ror2	C	T	13: 53,111,602	G473S	probably damaging	Het
Slc15a2	A	T	16: 36,762,361	Y222N	probably damaging	Het
Slc38a7	A	T	8: 95,843,840	M269K	probably damaging	Het
Srrd	A	T	5: 112,339,756	L159H	probably damaging	Het
Tap2	C	A	17: 34,208,801	S218Y	possibly damaging	Het
Tex15	G	A	8: 33,582,512	V2696I	possibly damaging	Het
Tmem67	G	A	4: 12,040,651	T1030I	probably damaging	Het
Traf5	T	C	1: 192,066,890		probably null	Het
Ubqln3	C	T	7: 104,142,311	V191I	probably damaging	Het
Vmn2r67	T	C	7: 85,136,556	Y747C	probably damaging	Het
Wipf3	C	T	6: 54,489,073	P439S	probably damaging	Het
Zbed5	A	T	5: 129,902,751	M514L	probably benign	Het
Zfp592	A	G	7: 81,041,613	D1180G	possibly damaging	Het
Zfyve9	A	T	4: 108,689,264	D790E	possibly damaging	Het
Zkscan16	A	G	4: 58,957,329	K537R	probably benign	Het

Other mutations in Try4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01773:Try4	APN	6	41305026	missense	probably damaging	1.00
IGL02216:Try4	APN	6	41305031	missense	probably benign
R0537:Try4	UTSW	6	41304362	missense	probably benign
R0731:Try4	UTSW	6	41304367	missense	probably benign	0.01
R1113:Try4	UTSW	6	41305374	missense	possibly damaging	0.90
R1833:Try4	UTSW	6	41303431	missense	probably damaging	0.98
R4131:Try4	UTSW	6	41305401	nonsense	probably null
R4414:Try4	UTSW	6	41304971	missense	possibly damaging	0.84
R5457:Try4	UTSW	6	41303421	missense	probably damaging	1.00
R5707:Try4	UTSW	6	41305043	missense	possibly damaging	0.65
R6023:Try4	UTSW	6	41303421	missense	probably damaging	1.00
R7131:Try4	UTSW	6	41304403	missense	probably benign	0.03
R7783:Try4	UTSW	6	41302295	missense	possibly damaging	0.96
R8051:Try4	UTSW	6	41305062	missense	probably damaging	0.99
R9320:Try4	UTSW	6	41305074	critical splice donor site	probably null
R9730:Try4	UTSW	6	41305062	missense	probably damaging	1.00
RF007:Try4	UTSW	6	41305363	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCTAGAATGGCATCTTCAGG -3'
(R):5'- CCATGCAACATATTTGGAGATGTAGG -3'

Sequencing Primer
(F):5'- ATGGCATCTTCAGGTCAGAGTAATG -3'
(R):5'- CATATTTGGAGATGTAGGACGCAAAC -3'

Posted On

2014-10-15