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?

Possibly non essential (E-score: 0.285) question?

Stock #

R2867 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53806525-53807113 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53806926 bp (GRCm38)

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
Adss	T	C	1: 177,767,812 (GRCm38)		probably null	Het
Arid3c	T	C	4: 41,725,958 (GRCm38)	D215G	probably damaging	Het
Birc2	A	C	9: 7,834,477 (GRCm38)	M1R	probably null	Het
Caprin2	G	A	6: 148,846,240 (GRCm38)		silent	Het
Cog4	C	A	8: 110,866,659 (GRCm38)		probably benign	Het
Cpz	T	C	5: 35,502,361 (GRCm38)	K647E	probably benign	Het
Ctnna2	T	C	6: 77,114,922 (GRCm38)		probably benign	Het
Cyp7a1	T	C	4: 6,272,493 (GRCm38)	E240G	probably damaging	Het
Efhc2	A	T	X: 17,161,245 (GRCm38)		probably benign	Homo
Epha6	T	C	16: 59,960,296 (GRCm38)		probably null	Het
Evc	T	A	5: 37,316,275 (GRCm38)		probably benign	Het
Fbf1	A	G	11: 116,161,448 (GRCm38)		probably benign	Het
Grin2b	A	G	6: 135,733,639 (GRCm38)	F970L	probably damaging	Het
Gtf3c4	A	G	2: 28,839,904 (GRCm38)		probably benign	Het
Kcnma1	A	T	14: 23,373,207 (GRCm38)	N682K	probably benign	Het
Kif20b	A	G	19: 34,940,128 (GRCm38)	E631G	probably damaging	Het
Lctl	T	C	9: 64,137,868 (GRCm38)	S550P	probably benign	Het
Lrrc6	A	T	15: 66,438,408 (GRCm38)	L337*	probably null	Het
Mapk10	C	T	5: 103,038,682 (GRCm38)	D25N	probably benign	Het
Mgst2	A	G	3: 51,664,533 (GRCm38)		silent	Het
Mslnl	G	A	17: 25,742,934 (GRCm38)	V128M	probably damaging	Het
N4bp1	T	C	8: 86,861,405 (GRCm38)	N302D	probably benign	Het
Pcdh7	A	T	5: 57,721,894 (GRCm38)	K930N	probably damaging	Het
Pramef25	T	A	4: 143,948,886 (GRCm38)	I457L	probably benign	Het
Proca1	A	T	11: 78,204,980 (GRCm38)	N146I	probably damaging	Het
RP23-211L5.9	T	C	6: 68,895,650 (GRCm38)		probably null	Het
Ryr2	A	T	13: 11,761,349 (GRCm38)	W1101R	probably damaging	Het
Slc35d3	T	C	10: 19,849,463 (GRCm38)	T216A	probably benign	Het
Terb1	C	T	8: 104,447,853 (GRCm38)		probably benign	Het
Thnsl2	C	A	6: 71,131,961 (GRCm38)	D289Y	probably damaging	Het
Tigd4	A	G	3: 84,593,952 (GRCm38)	N59D	possibly damaging	Het
Togaram2	T	C	17: 71,709,597 (GRCm38)	S649P	probably benign	Het
Tradd	G	T	8: 105,259,513 (GRCm38)	F182L	probably benign	Het
Usp37	A	T	1: 74,450,532 (GRCm38)	D808E	probably damaging	Het
Usp42	G	A	5: 143,715,464 (GRCm38)	P935S	possibly damaging	Het
Vmn2r23	A	G	6: 123,713,164 (GRCm38)	D333G	possibly damaging	Het
Zfpm2	C	T	15: 41,099,389 (GRCm38)	A149V	probably benign	Het

Other mutations in Trav17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03124:Trav17	APN	14	53,806,649 (GRCm38)	missense	probably benign	0.01
R2867:Trav17	UTSW	14	53,806,926 (GRCm38)	missense	probably benign	0.03
R2903:Trav17	UTSW	14	53,806,666 (GRCm38)	missense	probably benign	0.17
R4776:Trav17	UTSW	14	53,806,640 (GRCm38)	start codon destroyed	probably null	1.00
R7308:Trav17	UTSW	14	53,806,979 (GRCm38)	missense	probably benign	0.38
R7451:Trav17	UTSW	14	53,806,639 (GRCm38)	start codon destroyed	probably damaging	0.98
R7588:Trav17	UTSW	14	53,806,845 (GRCm38)	missense	probably benign	0.00
R9055:Trav17	UTSW	14	53,806,863 (GRCm38)	missense	probably damaging	0.98

Predicted Primers

Posted On

2017-05-11