Mutagenetix > Incidental Mutations

Incidental Mutation 'R4060:Trbv20'

315813

Institutional Source

Beutler Lab

Gene Symbol

Trbv20

Ensembl Gene

ENSMUSG00000076476

Gene Name

T cell receptor beta, variable 20

Synonyms

Tcrb-V15, Gm16911

MMRRC Submission

041618-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R4060 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41188273-41188977 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to G at 41188261 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103277]

Predicted Effect

probably benign
Transcript: ENSMUST00000103277

SMART Domains

Protein: ENSMUSP00000100093
Gene: ENSMUSG00000076476

Domain	Start	End	E-Value	Type
Pfam:V-set	15	111	8e-11	PFAM
Pfam:I-set	17	111	1.8e-7	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019A02Rik	A	T	1: 53,158,769	L140Q	probably damaging	Het
Abca8b	A	T	11: 109,957,201	M756K	probably benign	Het
Cd44	T	C	2: 102,901,342	D2G	probably damaging	Het
Cdan1	T	C	2: 120,725,743	I681V	probably benign	Het
Cdc5l	C	T	17: 45,410,890	A485T	probably benign	Het
Cfh	T	C	1: 140,119,926	I488M	possibly damaging	Het
Cntn2	T	A	1: 132,525,896	L346F	probably damaging	Het
Creb3l2	T	C	6: 37,334,549	H435R	probably benign	Het
Dmbt1	A	G	7: 131,074,202		probably benign	Het
Fam162a	C	T	16: 36,044,081	R38K	probably benign	Het
Fat1	A	T	8: 45,025,481	E2521D	probably benign	Het
Foxo1	A	G	3: 52,345,162	R249G	probably damaging	Het
Grm6	A	G	11: 50,853,224	E174G	probably damaging	Het
Gtpbp2	G	A	17: 46,167,327	R467H	probably damaging	Het
Hypk	A	G	2: 121,453,679		probably benign	Het
Ifih1	T	C	2: 62,598,799	T932A	possibly damaging	Het
Igfbp1	C	A	11: 7,198,091	P45T	probably damaging	Het
Ik	A	G	18: 36,748,890	K142E	probably damaging	Het
Ltbp3	T	C	19: 5,742,320	L27P	probably benign	Het
Mast3	A	G	8: 70,781,194	V969A	probably damaging	Het
Mrps24	G	A	11: 5,704,676	R93*	probably null	Het
Olfr342	A	G	2: 36,527,414	M1V	probably null	Het
Olfr53	T	C	7: 140,652,120	I47T	probably damaging	Het
Olfr832	T	C	9: 18,945,050	V134A	probably benign	Het
Otop2	G	A	11: 115,329,375	G347D	probably damaging	Het
Pcdhb20	A	G	18: 37,506,164	E581G	probably damaging	Het
Rnf146	T	C	10: 29,347,367	I174M	probably damaging	Het
Serpinb9g	G	A	13: 33,495,106	V320I	probably benign	Het
Sh3pxd2b	G	T	11: 32,422,263	A477S	probably benign	Het
Slc23a3	T	G	1: 75,133,320		probably benign	Het
Ssrp1	T	G	2: 85,041,634	Y401D	probably damaging	Het
Tas2r109	A	T	6: 132,980,185	W261R	probably damaging	Het
Tas2r144	T	C	6: 42,215,629	V101A	possibly damaging	Het
Tead1	T	A	7: 112,876,062		probably null	Het
Tiam2	A	G	17: 3,428,980	S663G	probably benign	Het
Tspan9	T	C	6: 128,034,172	I19M	probably benign	Het
Ttbk2	T	A	2: 120,748,984	E552D	probably benign	Het
Zfp292	A	G	4: 34,810,863	V727A	probably damaging	Het

Other mutations in Trbv20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02225:Trbv20	APN	6	41188307	splice site	probably benign
IGL02451:Trbv20	APN	6	41188276	missense	unknown
IGL03161:Trbv20	APN	6	41188823	missense	probably benign	0.44
R5789:Trbv20	UTSW	6	41188791	missense	probably damaging	1.00
R6245:Trbv20	UTSW	6	41188906	missense	possibly damaging	0.87
R7556:Trbv20	UTSW	6	41188781	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- AAGATTCTGAGGCTACTTGAGG -3'
(R):5'- CCTTCACTTTCCGTGGATGGTG -3'

Sequencing Primer
(F):5'- GAGGCATGTATGTTTCTTCAAGAC -3'
(R):5'- AGATGTGCCATCTCATCTGATCAG -3'

Posted On

2015-05-15