Mutagenetix > Incidental Mutation

Incidental Mutation 'R4083:Trav7d-3'

316993

Institutional Source

Beutler Lab

Gene Symbol

Trav7d-3

Ensembl Gene

ENSMUSG00000096746

Gene Name

T cell receptor alpha variable 7D-3

Synonyms

MMRRC Submission

040978-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R4083 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

52981771-52982295 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 52982212 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 84 (H84Q)

Ref Sequence

ENSEMBL: ENSMUSP00000136195 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179789]

AlphaFold

Q5R1I1

Predicted Effect

probably benign
Transcript: ENSMUST00000179789
AA Change: H84Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000136195
Gene: ENSMUSG00000096746
AA Change: H84Q

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	40	111	1.41e-12	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

97% (31/32)

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asah2	A	G	19: 31,964,184 (GRCm39)	S749P	probably benign	Het
Ccdc159	T	C	9: 21,840,699 (GRCm39)	S89P	possibly damaging	Het
Cnbd1	A	T	4: 18,886,042 (GRCm39)	S326T	possibly damaging	Het
Dpy19l1	G	A	9: 24,396,344 (GRCm39)	T124M	possibly damaging	Het
Fmod	A	T	1: 133,968,043 (GRCm39)	I28F	probably benign	Het
Gm8674	A	T	13: 50,055,047 (GRCm39)		noncoding transcript	Het
Grm3	T	G	5: 9,562,054 (GRCm39)	I599L	probably benign	Het
Hgf	G	T	5: 16,820,856 (GRCm39)	G668*	probably null	Het
Hsd17b11	A	T	5: 104,138,434 (GRCm39)	V280D	possibly damaging	Het
Igkv8-26	G	T	6: 70,170,547 (GRCm39)	S46I	probably damaging	Het
Kdm7a	T	C	6: 39,129,748 (GRCm39)	E476G	probably damaging	Het
Lgals9	A	T	11: 78,860,589 (GRCm39)	F162Y	possibly damaging	Het
Lig3	T	A	11: 82,681,320 (GRCm39)	N437K	probably benign	Het
Mterf4	A	C	1: 93,232,380 (GRCm39)	M157R	possibly damaging	Het
Nbas	T	C	12: 13,524,192 (GRCm39)	W1683R	probably damaging	Het
Nmur2	G	C	11: 55,931,051 (GRCm39)	P220R	probably damaging	Het
Or14j10	T	G	17: 37,935,316 (GRCm39)	D70A	probably damaging	Het
Or2ag2	G	T	7: 106,485,851 (GRCm39)	P58T	probably damaging	Het
Pcdh10	A	C	3: 45,347,142 (GRCm39)	D979A	probably damaging	Het
Prb1b	G	A	6: 132,289,657 (GRCm39)	P56S	unknown	Het
Ptch1	T	G	13: 63,672,773 (GRCm39)	E944A	probably benign	Het
Rab27a	G	T	9: 72,989,721 (GRCm39)	R64L	probably damaging	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc22a16	T	A	10: 40,450,065 (GRCm39)	L167Q	probably damaging	Het
Srgap1	A	G	10: 121,621,595 (GRCm39)	V989A	probably damaging	Het
Sstr2	T	C	11: 113,516,071 (GRCm39)	V330A	probably benign	Het
Tdrd1	T	C	19: 56,831,662 (GRCm39)	M351T	probably benign	Het

Other mutations in Trav7d-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0490:Trav7d-3	UTSW	14	52,982,007 (GRCm39)	splice site	probably benign
R8079:Trav7d-3	UTSW	14	52,982,193 (GRCm39)	missense	possibly damaging	0.84
R9478:Trav7d-3	UTSW	14	52,982,054 (GRCm39)	missense	possibly damaging	0.88
R9553:Trav7d-3	UTSW	14	52,981,820 (GRCm39)	critical splice donor site	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCTTTGTCTTTCTGCACAGG -3'
(R):5'- AATGTCTTCAACTCTGTGGTCTG -3'

Sequencing Primer
(F):5'- GTGCAGCAGAGCCCAGAATC -3'
(R):5'- CAACTCTGTGGTCTGTGATTTATGTC -3'

Posted On

2015-05-15