Mutagenetix > Incidental Mutation

Incidental Mutation 'R1354:Trdv1'

226094

Institutional Source

Beutler Lab

Gene Symbol

Trdv1

Ensembl Gene

ENSMUSG00000076864

Gene Name

T cell receptor delta variable 1

Synonyms

MMRRC Submission

039419-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.040) question?

Stock #

R1354 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

54119069-54119674 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 54119375 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139783 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103676] [ENSMUST00000103676] [ENSMUST00000187163]

AlphaFold

A0A087WPH8

Predicted Effect

probably benign
Transcript: ENSMUST00000103676

SMART Domains

Protein: ENSMUSP00000100453
Gene: ENSMUSG00000076864

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ig	26	112	6.7e-7	PFAM
Pfam:V-set	26	112	1.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103676

SMART Domains

Protein: ENSMUSP00000100453
Gene: ENSMUSG00000076864

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:ig	26	112	6.7e-7	PFAM
Pfam:V-set	26	112	1.6e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187163

SMART Domains

Protein: ENSMUSP00000139783
Gene: ENSMUSG00000076864

Domain	Start	End	E-Value	Type
signal peptide	1	17	N/A	INTRINSIC
IG_like	37	110	6.4e-5	SMART

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atoh1	A	G	6: 64,706,341 (GRCm39)	E12G	possibly damaging	Het
Ccdc183	T	C	2: 25,502,151 (GRCm39)	N241S	probably benign	Het
Cmya5	G	A	13: 93,228,566 (GRCm39)	T2174I	possibly damaging	Het
Edem1	A	G	6: 108,831,277 (GRCm39)	I579M	possibly damaging	Het
Gimap9	A	T	6: 48,654,982 (GRCm39)	M190L	probably benign	Het
Glod4	A	T	11: 76,128,654 (GRCm39)		probably null	Het
Ighv8-6	A	T	12: 115,129,700 (GRCm39)	S19T	probably damaging	Het
Lef1	C	T	3: 130,988,317 (GRCm39)	P267S	probably damaging	Het
Megf11	A	G	9: 64,560,459 (GRCm39)	E335G	probably benign	Het
Muc5ac	A	G	7: 141,361,114 (GRCm39)	N1475S	probably damaging	Het
Ndst2	C	A	14: 20,775,043 (GRCm39)	R749L	possibly damaging	Het
Oas3	C	A	5: 120,908,065 (GRCm39)	V292L	possibly damaging	Het
Phactr1	A	T	13: 43,210,807 (GRCm39)	I210F	possibly damaging	Het
Plppr5	G	A	3: 117,369,496 (GRCm39)	R51H	possibly damaging	Het
Ppp1r12b	G	A	1: 134,763,721 (GRCm39)	T771M	probably benign	Het
Rasgrf2	G	A	13: 92,165,174 (GRCm39)	P331S	probably damaging	Het
Rtl6	C	T	15: 84,440,728 (GRCm39)	V223M	probably damaging	Het
Tbc1d9	A	C	8: 83,995,610 (GRCm39)		probably null	Het
Tgm3	T	C	2: 129,883,818 (GRCm39)	I492T	probably benign	Het
Wdr45b	A	T	11: 121,226,256 (GRCm39)	I191N	probably damaging	Het

Other mutations in Trdv1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2091:Trdv1	UTSW	14	54,119,626 (GRCm39)	missense	probably benign	0.11
R4903:Trdv1	UTSW	14	54,119,375 (GRCm39)	intron	probably benign
R5519:Trdv1	UTSW	14	54,119,405 (GRCm39)	missense	probably benign
R6077:Trdv1	UTSW	14	54,119,513 (GRCm39)	missense	probably benign	0.04
R9718:Trdv1	UTSW	14	54,119,663 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2014-09-11