Mutagenetix > Incidental Mutation

Incidental Mutation 'R2867:Trav17'

475541

Institutional Source

Beutler Lab

Gene Symbol

Trav17

Ensembl Gene

ENSMUSG00000096397

Gene Name

T cell receptor alpha variable 17

Synonyms

OTTMUSG00000015028

MMRRC Submission

040456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.247) question?

Stock #

R2867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54044096-54044572 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54044383 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 50 (Y50F)

Ref Sequence

ENSEMBL: ENSMUSP00000140087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103672] [ENSMUST00000186545]

AlphaFold

A0A087WQ87

Predicted Effect

probably benign
Transcript: ENSMUST00000103672
AA Change: Y51F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000100449
Gene: ENSMUSG00000096397
AA Change: Y51F

Domain	Start	End	E-Value	Type
Pfam:V-set	20	113	2.2e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186545
AA Change: Y50F

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000140087
Gene: ENSMUSG00000096397
AA Change: Y50F

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG_like	36	111	4.9e-6	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

97% (30/31)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adss2	T	C	1: 177,595,378 (GRCm39)		probably null	Het
Arid3c	T	C	4: 41,725,958 (GRCm39)	D215G	probably damaging	Het
Birc2	A	C	9: 7,834,478 (GRCm39)	M1R	probably null	Het
Caprin2	G	A	6: 148,747,738 (GRCm39)		silent	Het
Cog4	C	A	8: 111,593,291 (GRCm39)		probably benign	Het
Cpz	T	C	5: 35,659,705 (GRCm39)	K647E	probably benign	Het
Ctnna2	T	C	6: 77,091,905 (GRCm39)		probably benign	Het
Cyp7a1	T	C	4: 6,272,493 (GRCm39)	E240G	probably damaging	Het
Dnaaf11	A	T	15: 66,310,257 (GRCm39)	L337*	probably null	Het
Efhc2	A	T	X: 17,027,484 (GRCm39)		probably benign	Homo
Epha6	T	C	16: 59,780,659 (GRCm39)		probably null	Het
Evc	T	A	5: 37,473,619 (GRCm39)		probably benign	Het
Fbf1	A	G	11: 116,052,274 (GRCm39)		probably benign	Het
Grin2b	A	G	6: 135,710,637 (GRCm39)	F970L	probably damaging	Het
Gtf3c4	A	G	2: 28,729,916 (GRCm39)		probably benign	Het
Kcnma1	A	T	14: 23,423,275 (GRCm39)	N682K	probably benign	Het
Kif20b	A	G	19: 34,917,528 (GRCm39)	E631G	probably damaging	Het
Lctl	T	C	9: 64,045,150 (GRCm39)	S550P	probably benign	Het
Mapk10	C	T	5: 103,186,548 (GRCm39)	D25N	probably benign	Het
Mgst2	A	G	3: 51,571,954 (GRCm39)		silent	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
N4bp1	T	C	8: 87,588,033 (GRCm39)	N302D	probably benign	Het
Pcdh7	A	T	5: 57,879,236 (GRCm39)	K930N	probably damaging	Het
Pramel16	T	A	4: 143,675,456 (GRCm39)	I457L	probably benign	Het
Proca1	A	T	11: 78,095,806 (GRCm39)	N146I	probably damaging	Het
RP23-211L5.9	T	C	6: 68,872,634 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,776,235 (GRCm39)	W1101R	probably damaging	Het
Slc35d3	T	C	10: 19,725,209 (GRCm39)	T216A	probably benign	Het
Terb1	C	T	8: 105,174,485 (GRCm39)		probably benign	Het
Thnsl2	C	A	6: 71,108,945 (GRCm39)	D289Y	probably damaging	Het
Tigd4	A	G	3: 84,501,259 (GRCm39)	N59D	possibly damaging	Het
Togaram2	T	C	17: 72,016,592 (GRCm39)	S649P	probably benign	Het
Tradd	G	T	8: 105,986,145 (GRCm39)	F182L	probably benign	Het
Usp37	A	T	1: 74,489,691 (GRCm39)	D808E	probably damaging	Het
Usp42	G	A	5: 143,701,219 (GRCm39)	P935S	possibly damaging	Het
Vmn2r23	A	G	6: 123,690,123 (GRCm39)	D333G	possibly damaging	Het
Zfpm2	C	T	15: 40,962,785 (GRCm39)	A149V	probably benign	Het

Other mutations in Trav17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03124:Trav17	APN	14	54,044,106 (GRCm39)	missense	probably benign	0.01
R2867:Trav17	UTSW	14	54,044,383 (GRCm39)	missense	probably benign	0.03
R2903:Trav17	UTSW	14	54,044,123 (GRCm39)	missense	probably benign	0.17
R4776:Trav17	UTSW	14	54,044,097 (GRCm39)	start codon destroyed	probably null	1.00
R7308:Trav17	UTSW	14	54,044,436 (GRCm39)	missense	probably benign	0.38
R7451:Trav17	UTSW	14	54,044,096 (GRCm39)	start codon destroyed	probably damaging	0.98
R7588:Trav17	UTSW	14	54,044,302 (GRCm39)	missense	probably benign	0.00
R9055:Trav17	UTSW	14	54,044,320 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

Posted On

2017-05-11