Mutagenetix > Incidental Mutation

Incidental Mutation 'R6472:Trav3-1'

516392

Institutional Source

Beutler Lab

Gene Symbol

Trav3-1

Ensembl Gene

ENSMUSG00000076760

Gene Name

T cell receptor alpha variable 3-1

Synonyms

MMRRC Submission

044605-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R6472 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

52818219-52818670 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 52818507 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 60 (E60D)

Ref Sequence

ENSEMBL: ENSMUSP00000100346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103569]

AlphaFold

Q5R1I8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103569
AA Change: E60D

PolyPhen 2 Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100346
Gene: ENSMUSG00000076760
AA Change: E60D

Domain	Start	End	E-Value	Type
IGv	39	113	6.02e-7	SMART

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.3%
20x: 94.4%

Validation Efficiency

100% (30/30)

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	A	T	16: 90,852,891 (GRCm39)	S82T	probably benign	Het
Abca1	A	G	4: 53,085,991 (GRCm39)		probably null	Het
Ascc3	T	C	10: 50,596,783 (GRCm39)	Y1238H	probably benign	Het
Ccn3	A	T	15: 54,612,668 (GRCm39)	T226S	possibly damaging	Het
Cdadc1	T	C	14: 59,823,491 (GRCm39)	T334A	probably damaging	Het
Csrp3	G	A	7: 48,485,356 (GRCm39)	T47I	possibly damaging	Het
Cyp2f2	G	A	7: 26,828,649 (GRCm39)	R173H	probably damaging	Het
Fads6	T	C	11: 115,176,962 (GRCm39)	T165A	probably damaging	Het
Fbxo30	T	C	10: 11,166,975 (GRCm39)	S566P	probably damaging	Het
Gsn	A	G	2: 35,180,463 (GRCm39)		probably null	Het
Heatr1	A	G	13: 12,449,111 (GRCm39)	D1897G	probably benign	Het
Il2ra	G	A	2: 11,686,780 (GRCm39)	E204K	possibly damaging	Het
Kif16b	G	T	2: 142,541,868 (GRCm39)		probably benign	Het
Kif1b	T	C	4: 149,277,053 (GRCm39)	M1337V	probably benign	Het
Odr4	C	T	1: 150,257,273 (GRCm39)	D230N	probably benign	Het
Or2a20	A	G	6: 43,194,293 (GRCm39)	I149V	probably benign	Het
Or2aa1	G	A	11: 59,480,582 (GRCm39)	T111I	probably benign	Het
Or7g22	T	A	9: 19,048,711 (GRCm39)	C141S	probably damaging	Het
Or8k41	A	T	2: 86,313,534 (GRCm39)	L184*	probably null	Het
Pappa2	T	C	1: 158,662,369 (GRCm39)	D1202G	probably damaging	Het
Pcp4l1	A	T	1: 171,002,004 (GRCm39)	I52N	possibly damaging	Het
Sis	C	T	3: 72,846,067 (GRCm39)	W665*	probably null	Het
Smap2	GACTCTAC	GAC	4: 120,830,282 (GRCm39)		probably benign	Het
Snrpb2	A	G	2: 142,910,221 (GRCm39)	K93R	possibly damaging	Het
Syt10	T	G	15: 89,698,761 (GRCm39)	E194D	probably benign	Het
Tmem163	A	C	1: 127,423,471 (GRCm39)	F264V	probably benign	Het
Vmn1r237	G	A	17: 21,534,616 (GRCm39)	S113N	probably benign	Het
Vwa8	T	C	14: 79,246,610 (GRCm39)	S651P	possibly damaging	Het
Wnt3	G	A	11: 103,699,100 (GRCm39)	V69I	possibly damaging	Het

Other mutations in Trav3-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01682:Trav3-1	APN	14	52,818,649 (GRCm39)	missense	probably benign	0.09
IGL02628:Trav3-1	APN	14	52,818,551 (GRCm39)	missense	probably benign	0.01
R2857:Trav3-1	UTSW	14	52,818,515 (GRCm39)	missense	probably benign	0.07
R4162:Trav3-1	UTSW	14	52,818,496 (GRCm39)	missense	probably damaging	1.00
R4674:Trav3-1	UTSW	14	52,818,460 (GRCm39)	missense	possibly damaging	0.66
R5475:Trav3-1	UTSW	14	52,818,494 (GRCm39)	missense	probably damaging	1.00
R5944:Trav3-1	UTSW	14	52,818,449 (GRCm39)	missense	probably benign	0.00
R6851:Trav3-1	UTSW	14	52,818,428 (GRCm39)	missense	probably damaging	1.00
R7788:Trav3-1	UTSW	14	52,818,581 (GRCm39)	missense	probably damaging	1.00
R7895:Trav3-1	UTSW	14	52,818,550 (GRCm39)	missense	probably benign	0.02
R8550:Trav3-1	UTSW	14	52,818,390 (GRCm39)	missense	probably benign	0.04
R8773:Trav3-1	UTSW	14	52,818,428 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGGCAGCCTGATGGTCTTC -3'
(R):5'- AACTTCTCTGGTCCAATTGAAGC -3'

Sequencing Primer
(F):5'- CAGCCTGATGGTCTTCTGCTG -3'
(R):5'- GGTCCAATTGAAGCTAACTTTCTGG -3'

Posted On

2018-05-21