Mutagenetix > Incidental Mutation

Incidental Mutation 'R4173:Trav6d-3'

318220

Institutional Source

Beutler Lab

Gene Symbol

Trav6d-3

Ensembl Gene

ENSMUSG00000096600

Gene Name

T cell receptor alpha variable 6D-3

Synonyms

MMRRC Submission

041012-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R4173 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52962765-52964376 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52962806 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Methionine at position 14 (I14M)

Ref Sequence

ENSEMBL: ENSMUSP00000137760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000181483] [ENSMUST00000184883]

AlphaFold

A0A075B6D3

Predicted Effect

probably benign
Transcript: ENSMUST00000181483
AA Change: I14M

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137760
Gene: ENSMUSG00000096600
AA Change: I14M

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:V-set	21	112	2.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184883

SMART Domains

Protein: ENSMUSP00000139137
Gene: ENSMUSG00000096600

Domain	Start	End	E-Value	Type
Pfam:V-set	11	102	3.8e-13	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akip1	C	T	7: 109,306,716 (GRCm39)	Q138*	probably null	Het
Cdk1	T	C	10: 69,180,991 (GRCm39)	D73G	probably benign	Het
Cspg4	A	G	9: 56,795,214 (GRCm39)	E983G	probably damaging	Het
Gnmt	A	G	17: 47,037,047 (GRCm39)	V217A	probably damaging	Het
Myo5c	A	G	9: 75,153,540 (GRCm39)	E142G	probably damaging	Het
Nr1h5	C	T	3: 102,859,546 (GRCm39)	R171H	probably damaging	Het
Opcml	C	T	9: 28,814,654 (GRCm39)	T302I	probably benign	Het
Or4c58	T	G	2: 89,675,122 (GRCm39)	D65A	probably damaging	Het
Pcdha11	T	C	18: 37,145,676 (GRCm39)	V589A	probably damaging	Het
Pigl	T	A	11: 62,349,337 (GRCm39)	F18I	probably benign	Het
Pip4k2b	T	C	11: 97,613,201 (GRCm39)	K265R	probably benign	Het
Rora	C	A	9: 68,561,192 (GRCm39)	T35K	probably benign	Het
Serpinb9e	A	G	13: 33,439,141 (GRCm39)	N189S	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc25a45	C	A	19: 5,930,611 (GRCm39)	Y99*	probably null	Het
Smgc	T	C	15: 91,744,759 (GRCm39)	S655P	possibly damaging	Het
Thbs2	A	C	17: 14,901,893 (GRCm39)		probably null	Het
Timd2	T	C	11: 46,561,787 (GRCm39)	T286A	probably benign	Het
Trim28	A	G	7: 12,763,805 (GRCm39)	D622G	probably benign	Het
Txnl4b	G	A	8: 110,295,706 (GRCm39)	V37I	probably benign	Het
Ubr1	C	T	2: 120,777,103 (GRCm39)		probably null	Het
Vps13c	A	G	9: 67,843,595 (GRCm39)	N1959D	probably benign	Het
Xkr4	A	G	1: 3,286,711 (GRCm39)	F493S	probably damaging	Het
Xrn2	T	C	2: 146,889,612 (GRCm39)	V665A	probably damaging	Het

Other mutations in Trav6d-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
teed_off	UTSW	14	52,962,799 (GRCm39)	missense	probably damaging	1.00
R2445:Trav6d-3	UTSW	14	52,964,285 (GRCm39)	missense	probably damaging	1.00
R7215:Trav6d-3	UTSW	14	52,962,799 (GRCm39)	missense	probably damaging	1.00
R9132:Trav6d-3	UTSW	14	52,964,210 (GRCm39)	missense	possibly damaging	0.64
R9599:Trav6d-3	UTSW	14	52,964,144 (GRCm39)	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GGAAGGTGTTACAATAGACCCTAG -3'
(R):5'- GCTTAAATCCCACTTAGAATGGGG -3'

Sequencing Primer
(F):5'- AGTTTCTGTCCACCAGGGG -3'
(R):5'- CCCACTTAGAATGGGGAATAAAATAG -3'

Posted On

2015-06-10