Mutagenetix > Incidental Mutation

Incidental Mutation 'R2445:Trav6d-3'

476386

Institutional Source

Beutler Lab

Gene Symbol

Trav6d-3

Ensembl Gene

ENSMUSG00000096600

Gene Name

T cell receptor alpha variable 6D-3

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

R2445 (G1)

Quality Score

179

Status

Not validated

Chromosome

Chromosomal Location

52725299-52726917 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52726828 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 83 (A83T)

Ref Sequence

ENSEMBL: ENSMUSP00000137760 (fasta)

Gene Model

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

AlphaFold

A0A075B6D3

Predicted Effect

probably damaging
Transcript: ENSMUST00000181483
AA Change: A83T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137760
Gene: ENSMUSG00000096600
AA Change: A83T

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 damaging
Transcript: ENSMUST00000184883
AA Change: A73T

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139137
Gene: ENSMUSG00000096600
AA Change: A73T

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
4930562C15Rik	T	A	16: 4,864,397		probably null	Het
Akr1b3	G	T	6: 34,310,934	D163E	probably benign	Het
D130043K22Rik	A	G	13: 24,857,036	D147G	probably benign	Het
F5	T	C	1: 164,190,226	F624S	probably damaging	Het
Gpr182	T	C	10: 127,750,627	T152A	probably benign	Het
Ifna13	A	T	4: 88,643,896	W164R	probably damaging	Het
Lsg1	C	A	16: 30,564,695	R569L	probably benign	Het
Mmp27	T	C	9: 7,581,181	S456P	probably benign	Het
Naip6	A	G	13: 100,300,668	V449A	probably damaging	Het
Obscn	T	C	11: 59,131,646	R758G	possibly damaging	Het
Olfr1130	T	C	2: 87,607,958	I190T	probably damaging	Het
Ptpn23	G	T	9: 110,387,632	P1052Q	possibly damaging	Het
Sacs	A	G	14: 61,205,206	H1567R	probably damaging	Het
Slc30a7	A	T	3: 115,978,653	I280K	probably damaging	Het
Slc6a18	A	T	13: 73,666,752	C15*	probably null	Het
Tnrc18	T	A	5: 142,772,115	I884F	unknown	Het
Zgpat	C	A	2: 181,366,160	C163*	probably null	Het

Other mutations in Trav6d-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
teed_off	UTSW	14	52725342	missense	probably damaging	1.00
R4173:Trav6d-3	UTSW	14	52725349	missense	probably benign	0.00
R7215:Trav6d-3	UTSW	14	52725342	missense	probably damaging	1.00
R9132:Trav6d-3	UTSW	14	52726753	missense	possibly damaging	0.64
R9599:Trav6d-3	UTSW	14	52726687	missense	probably benign	0.35

Predicted Primers

Posted On

2017-05-11