Mutagenetix > Incidental Mutation

Incidental Mutation 'R4538:Trbv17'

333408

Institutional Source

Beutler Lab

Gene Symbol

Trbv17

Ensembl Gene

ENSMUSG00000076474

Gene Name

T cell receptor beta, variable 17

Synonyms

Tcrb-V9, Gm16779

MMRRC Submission

041775-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4538 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41140026-41140490 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41140286 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 47 (N47T)

Ref Sequence

ENSEMBL: ENSMUSP00000100091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103275]

AlphaFold

A0A140T8P8

Predicted Effect

probably benign
Transcript: ENSMUST00000103275
AA Change: N47T

PolyPhen 2 Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000100091
Gene: ENSMUSG00000076474
AA Change: N47T

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG_like	37	112	1.4e-2	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

97% (36/37)

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110018I06Rik	G	A	12: 107,455,096 (GRCm39)	V61M	unknown	Het
Abcc9	A	G	6: 142,560,138 (GRCm39)		probably null	Het
Adcy10	A	T	1: 165,340,696 (GRCm39)	M234L	probably benign	Het
B4galt3	T	C	1: 171,100,280 (GRCm39)	F150S	probably damaging	Het
Bag4	C	T	8: 26,259,516 (GRCm39)	A228T	probably benign	Het
Chd4	A	T	6: 125,097,649 (GRCm39)	D1377V	probably damaging	Het
Cope	T	A	8: 70,759,157 (GRCm39)	I16N	probably damaging	Het
Cpd	A	T	11: 76,681,825 (GRCm39)	N1140K	probably benign	Het
Cyp7b1	A	T	3: 18,151,745 (GRCm39)	I156N	possibly damaging	Het
Depdc5	T	C	5: 33,141,290 (GRCm39)	Y1397H	probably damaging	Het
Dnajc13	CT	C	9: 104,064,004 (GRCm39)		probably benign	Het
Ebf1	T	A	11: 44,798,822 (GRCm39)	D289E	probably benign	Het
Egflam	T	C	15: 7,281,918 (GRCm39)	Y406C	probably damaging	Het
Hfm1	T	C	5: 107,022,756 (GRCm39)	T949A	possibly damaging	Het
Ifih1	A	G	2: 62,447,756 (GRCm39)	V316A	probably damaging	Het
Kif1a	C	T	1: 93,004,769 (GRCm39)	V142M	probably damaging	Het
Kng2	C	A	16: 22,806,813 (GRCm39)	R462L	probably benign	Het
Lrrn1	T	A	6: 107,545,598 (GRCm39)	N465K	probably benign	Het
Mdn1	T	A	4: 32,722,334 (GRCm39)	L2372Q	probably damaging	Het
Men1	T	C	19: 6,386,784 (GRCm39)	F159L	possibly damaging	Het
Mul1	T	C	4: 138,165,706 (GRCm39)		probably benign	Het
Or2l13b	A	T	16: 19,349,381 (GRCm39)	C96*	probably null	Het
Pramel6	T	G	2: 87,338,903 (GRCm39)	H34Q	probably benign	Het
Ripk4	A	T	16: 97,544,352 (GRCm39)	L702*	probably null	Het
Slc5a4a	C	T	10: 76,013,929 (GRCm39)	R379*	probably null	Het
Slc9a3	T	C	13: 74,309,851 (GRCm39)	V513A	possibly damaging	Het
Strada	A	C	11: 106,058,651 (GRCm39)	M245R	probably damaging	Het
Sycp1	A	T	3: 102,748,278 (GRCm39)	I838K	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Washc3	T	A	10: 88,051,871 (GRCm39)	S87T	probably benign	Het

Other mutations in Trbv17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4859:Trbv17	UTSW	6	41,140,223 (GRCm39)	missense	probably benign	0.09
R5410:Trbv17	UTSW	6	41,140,472 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTTGCAGCCAGTGAGTTC -3'
(R):5'- CAGAATACTCTAGGCCTGCAGAG -3'

Sequencing Primer
(F):5'- TGCAGCCAGTGAGTTCTGAGC -3'
(R):5'- CTAGGCCTGCAGAGCCAATGTAG -3'

Posted On

2015-08-18