Mutagenetix > Incidental Mutation

Incidental Mutation 'R6773:Trbv5'

532239

Institutional Source

Beutler Lab

Gene Symbol

Trbv5

Ensembl Gene

ENSMUSG00000076465

Gene Name

T cell receptor beta, variable 5

Synonyms

Tcrb-V1

MMRRC Submission

044889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6773 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41039293-41039737 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 41039551 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 52 (W52L)

Ref Sequence

ENSEMBL: ENSMUSP00000100082 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103265] [ENSMUST00000103266]

AlphaFold

A0A0B4J1G9

Predicted Effect

probably benign
Transcript: ENSMUST00000103265

SMART Domains

Protein: ENSMUSP00000100081
Gene: ENSMUSG00000076464

Domain	Start	End	E-Value	Type
IG	27	113	3.54e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103265

SMART Domains

Protein: ENSMUSP00000144909
Gene: ENSMUSG00000107486

Domain	Start	End	E-Value	Type
IG	27	113	3.54e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000103266
AA Change: W52L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000100082
Gene: ENSMUSG00000076465
AA Change: W52L

Domain	Start	End	E-Value	Type
Pfam:V-set	20	113	5.9e-14	PFAM

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.8%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adrm1b	T	A	3: 92,336,556 (GRCm39)	I49F	probably damaging	Het
Aqp6	A	G	15: 99,500,558 (GRCm39)	D161G	probably damaging	Het
Aqr	A	T	2: 113,979,477 (GRCm39)	N319K	possibly damaging	Het
Asns	C	A	6: 7,676,284 (GRCm39)	R424L	probably benign	Het
Atp4a	T	C	7: 30,414,802 (GRCm39)	V197A	probably damaging	Het
Ccdc70	A	G	8: 22,463,321 (GRCm39)	E37G	probably damaging	Het
Ccdc88b	A	T	19: 6,826,409 (GRCm39)	V1102E	possibly damaging	Het
Cd82	G	A	2: 93,252,221 (GRCm39)	A130V	probably benign	Het
Cfap46	T	C	7: 139,222,477 (GRCm39)		probably benign	Het
Cnot6l	A	C	5: 96,242,158 (GRCm39)	C188W	probably damaging	Het
Cxcr6	A	T	9: 123,639,355 (GRCm39)	T119S	possibly damaging	Het
Dok7	G	A	5: 35,234,528 (GRCm39)	R193H	probably damaging	Het
Dpy19l1	A	T	9: 24,352,068 (GRCm39)	S386T	probably damaging	Het
Frem3	A	C	8: 81,338,444 (GRCm39)	T246P	probably damaging	Het
Gm29666	A	T	15: 84,798,360 (GRCm39)	I67K	unknown	Het
Gpr153	T	A	4: 152,363,757 (GRCm39)	V59E	probably damaging	Het
Inpp4b	G	A	8: 82,583,249 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,482 (GRCm39)	I247V	possibly damaging	Het
Klri1	C	T	6: 129,680,510 (GRCm39)	V91M	possibly damaging	Het
M1ap	T	A	6: 82,945,061 (GRCm39)	D118E	probably damaging	Het
Map4	T	C	9: 109,863,993 (GRCm39)	V406A	probably benign	Het
Nedd4l	T	C	18: 65,300,622 (GRCm39)	V369A	probably benign	Het
Or5ac24	A	T	16: 59,165,579 (GRCm39)	L162I	probably damaging	Het
Otud4	A	G	8: 80,370,435 (GRCm39)	Y71C	possibly damaging	Het
Plcl1	A	G	1: 55,790,461 (GRCm39)	N1044D	probably benign	Het
Ppp4r3b	T	A	11: 29,155,639 (GRCm39)	M114K	probably benign	Het
Prune1	T	C	3: 95,171,082 (GRCm39)	D114G	probably damaging	Het
Rad54l2	A	T	9: 106,570,516 (GRCm39)	V1268D	probably benign	Het
Rbbp6	A	G	7: 122,598,578 (GRCm39)		probably benign	Het
Rimbp3	A	T	16: 17,026,879 (GRCm39)	E101V	probably damaging	Het
Rit1	C	T	3: 88,633,676 (GRCm39)		probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Homo
Shisa9	A	G	16: 11,802,892 (GRCm39)	T150A	probably damaging	Het
Smpdl3a	T	C	10: 57,678,533 (GRCm39)	V112A	probably damaging	Het
Strada	T	A	11: 106,055,733 (GRCm39)	I305F	probably damaging	Het
Svep1	C	T	4: 58,049,146 (GRCm39)	E3454K	possibly damaging	Het
Tfap2a	T	A	13: 40,882,230 (GRCm39)	N25I	probably damaging	Het
Tmem259	T	C	10: 79,813,422 (GRCm39)	D519G	possibly damaging	Het
Tns1	T	C	1: 73,958,866 (GRCm39)	Q445R	probably damaging	Het
Topbp1	A	G	9: 103,220,891 (GRCm39)	D20G	possibly damaging	Het
Trpc6	A	T	9: 8,634,058 (GRCm39)	H379L	probably damaging	Het
Tulp1	T	C	17: 28,581,876 (GRCm39)	K193E	probably damaging	Het
Unc80	T	C	1: 66,690,702 (GRCm39)	V2459A	probably benign	Het
Vps50	T	C	6: 3,592,560 (GRCm39)	V731A	probably benign	Het

Other mutations in Trbv5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2508:Trbv5	UTSW	6	41,039,555 (GRCm39)	nonsense	probably null
R3845:Trbv5	UTSW	6	41,039,682 (GRCm39)	missense	probably benign	0.03
R3965:Trbv5	UTSW	6	41,039,342 (GRCm39)	critical splice donor site	probably benign
R5256:Trbv5	UTSW	6	41,039,318 (GRCm39)	missense	possibly damaging	0.87
R7582:Trbv5	UTSW	6	41,039,617 (GRCm39)	missense	probably benign	0.00
R8066:Trbv5	UTSW	6	41,039,326 (GRCm39)	missense	probably damaging	0.96
R8441:Trbv5	UTSW	6	41,039,517 (GRCm39)	missense	probably damaging	1.00
R8947:Trbv5	UTSW	6	41,039,641 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGGCTCCTAGCTCCAACTTC -3'
(R):5'- TCTAATGAGTCTGCAGGGCTG -3'

Sequencing Primer
(F):5'- AGCTCCAACTTCCTTTTTGCTGAAG -3'
(R):5'- TGGCTGCTGGCACAAAAATAGAC -3'

Posted On

2018-08-29