Mutagenetix > Incidental Mutation

Incidental Mutation 'R8284:Trbv20'

638368

Institutional Source

Beutler Lab

Gene Symbol

Trbv20

Ensembl Gene

ENSMUSG00000076476

Gene Name

T cell receptor beta, variable 20

Synonyms

Gm16911, Tcrb-V15

MMRRC Submission

067707-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.053) question?

Stock #

R8284 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41165207-41165911 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41165782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 69 (A69V)

Ref Sequence

ENSEMBL: ENSMUSP00000100093 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1H5

Predicted Effect

probably damaging
Transcript: ENSMUST00000103277
AA Change: A69V

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100093
Gene: ENSMUSG00000076476
AA Change: A69V

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

0.6329

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts14	T	C	10: 61,034,438 (GRCm39)	Y1147C	possibly damaging	Het
Adgrf5	T	A	17: 43,766,161 (GRCm39)	S1328T	unknown	Het
Aff4	A	G	11: 53,295,379 (GRCm39)	K860E	probably damaging	Het
Aox1	A	C	1: 58,115,250 (GRCm39)	H745P	probably damaging	Het
Bpifc	T	C	10: 85,836,413 (GRCm39)	T31A	probably benign	Het
C3	C	A	17: 57,530,938 (GRCm39)	V388L	probably benign	Het
Celsr3	G	T	9: 108,723,612 (GRCm39)	M2874I	probably damaging	Het
Cnga4	T	A	7: 105,057,239 (GRCm39)	D550E	probably benign	Het
Dhx8	A	G	11: 101,648,455 (GRCm39)	T918A	probably damaging	Het
Dnah14	A	C	1: 181,601,376 (GRCm39)	E3670A	probably benign	Het
Fbxo31	T	C	8: 122,287,181 (GRCm39)	I131V	probably benign	Het
Ftcd	T	C	10: 76,413,893 (GRCm39)	V99A	probably benign	Het
Gucy2e	A	G	11: 69,123,177 (GRCm39)	V471A	probably benign	Het
H60b	T	A	10: 22,162,971 (GRCm39)	L182Q	probably benign	Het
Hbp1	G	A	12: 31,987,625 (GRCm39)	H188Y	probably damaging	Het
Itga4	C	T	2: 79,151,783 (GRCm39)	T862I	probably benign	Het
Kcnmb4	T	A	10: 116,254,158 (GRCm39)	K206N	probably damaging	Het
Klra4	A	G	6: 130,042,243 (GRCm39)	F8S	possibly damaging	Het
Mrpl2	C	A	17: 46,958,435 (GRCm39)	Y72*	probably null	Het
Nars2	C	A	7: 96,600,845 (GRCm39)		probably benign	Het
Nup214	T	C	2: 31,886,458 (GRCm39)	S607P	possibly damaging	Het
Oas1d	C	T	5: 121,057,221 (GRCm39)	R276*	probably null	Het
Or12d13	C	T	17: 37,647,587 (GRCm39)	V179I	probably benign	Het
Or1l8	T	A	2: 36,818,018 (GRCm39)	Y36F	probably damaging	Het
Or2t1	T	A	14: 14,329,011 (GRCm38)	L300Q	possibly damaging	Het
Or2y1b	A	G	11: 49,209,002 (GRCm39)	T210A	probably benign	Het
Pex13	A	G	11: 23,605,685 (GRCm39)	S182P	possibly damaging	Het
Piwil4	G	T	9: 14,638,774 (GRCm39)	N297K	probably benign	Het
Plxna4	T	C	6: 32,129,789 (GRCm39)	T1845A	probably benign	Het
Pml	T	C	9: 58,136,643 (GRCm39)	N579D	probably benign	Het
Ppl	A	G	16: 4,950,201 (GRCm39)	S3P	probably damaging	Het
Pramel16	G	T	4: 143,676,695 (GRCm39)	D136E	possibly damaging	Het
Prss54	G	A	8: 96,285,994 (GRCm39)	Q360*	probably null	Het
Ralgps2	A	G	1: 156,655,718 (GRCm39)	I402T	probably benign	Het
Rnf213	T	A	11: 119,318,909 (GRCm39)	D1123E		Het
Sdha	A	T	13: 74,479,416 (GRCm39)		probably null	Het
Senp8	G	A	9: 59,644,814 (GRCm39)	T114I		Het
Setx	C	T	2: 29,035,348 (GRCm39)	T611I	possibly damaging	Het
Shc1	T	G	3: 89,329,215 (GRCm39)	S20A	possibly damaging	Het
Slc15a1	T	C	14: 121,727,275 (GRCm39)	I98V	probably benign	Het
Snrk	A	G	9: 121,989,538 (GRCm39)	E294G	probably damaging	Het
Sox18	G	A	2: 181,312,751 (GRCm39)	P127S	probably damaging	Het
Spta1	A	G	1: 174,007,387 (GRCm39)	T206A	probably benign	Het
Tcfl5	A	G	2: 180,280,330 (GRCm39)	S358P	probably benign	Het
Tecta	T	A	9: 42,289,325 (GRCm39)	L413F	possibly damaging	Het
Tlk1	T	C	2: 70,544,365 (GRCm39)	T757A	probably benign	Het
Tmem232	T	A	17: 65,709,990 (GRCm39)	I433F	probably damaging	Het
Top1mt	T	A	15: 75,539,712 (GRCm39)	K300*	probably null	Het
Trim12a	A	T	7: 103,955,282 (GRCm39)	L147Q	probably damaging	Het
Tuba8	G	A	6: 121,199,736 (GRCm39)	S140N	probably damaging	Het
Vcan	A	T	13: 89,852,454 (GRCm39)	N835K	possibly damaging	Het
Xrcc1	G	A	7: 24,271,703 (GRCm39)	R562H	probably damaging	Het
Yipf7	C	T	5: 69,674,539 (GRCm39)	G202D	probably benign	Het
Ythdc1	T	G	5: 86,964,325 (GRCm39)	S45A	probably benign	Het
Zfp1002	T	C	2: 150,097,276 (GRCm39)		probably benign	Het

Other mutations in Trbv20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02225:Trbv20	APN	6	41,165,241 (GRCm39)	splice site	probably benign
IGL02451:Trbv20	APN	6	41,165,210 (GRCm39)	missense	unknown
IGL03161:Trbv20	APN	6	41,165,757 (GRCm39)	missense	probably benign	0.44
R4060:Trbv20	UTSW	6	41,165,195 (GRCm39)	unclassified	probably benign
R5789:Trbv20	UTSW	6	41,165,725 (GRCm39)	missense	probably damaging	1.00
R6245:Trbv20	UTSW	6	41,165,840 (GRCm39)	missense	possibly damaging	0.87
R7556:Trbv20	UTSW	6	41,165,715 (GRCm39)	missense	probably benign	0.10
R8440:Trbv20	UTSW	6	41,165,892 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTTCTGGGGCTTCTGAAGTC -3'
(R):5'- TATCACAAAGGTTCTTGCTGAAGTG -3'

Sequencing Primer
(F):5'- GGGGCTTCTGAAGTCTTTAATAATCC -3'
(R):5'- AAGTGTGTTGTTCTTGTCCAGCAC -3'

Posted On

2020-07-28