Mutagenetix > Incidental Mutation

Incidental Mutation 'R6630:Trbv3'

525045

Institutional Source

Beutler Lab

Gene Symbol

Trbv3

Ensembl Gene

ENSMUSG00000076463

Gene Name

T cell receptor beta, variable 3

Synonyms

Gm2426, Tcrb-V16

MMRRC Submission

044752-MU

Accession Numbers

Essential gene?

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

Stock #

R6630 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41025328-41025758 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41025506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 32 (I32K)

Ref Sequence

ENSEMBL: ENSMUSP00000100080 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103263] [ENSMUST00000103264]

AlphaFold

A0A0A6YYE2

Predicted Effect

probably benign
Transcript: ENSMUST00000103263

SMART Domains

Protein: ENSMUSP00000100079
Gene: ENSMUSG00000076462

Domain	Start	End	E-Value	Type
Pfam:V-set	22	114	2.8e-16	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103264
AA Change: I32K

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100080
Gene: ENSMUSG00000076463
AA Change: I32K

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IG	27	117	1.9e-2	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	A	G	9: 99,495,971 (GRCm39)	T136A	probably benign	Het
Calb1	T	A	4: 15,885,637 (GRCm39)	D69E	probably benign	Het
Cecr2	A	T	6: 120,739,139 (GRCm39)	N1261Y	probably damaging	Het
Cemip2	A	G	19: 21,829,593 (GRCm39)	N1234S	probably damaging	Het
Cenpo	G	A	12: 4,267,236 (GRCm39)		probably benign	Het
Cep131	A	G	11: 119,964,641 (GRCm39)	W272R	probably damaging	Het
Cnr1	T	A	4: 33,944,659 (GRCm39)	I349N	probably damaging	Het
Dcst1	A	T	3: 89,271,633 (GRCm39)	I50K	possibly damaging	Het
Defa40	T	A	8: 21,739,904 (GRCm39)	S43T	probably damaging	Het
Dhh	C	T	15: 98,792,247 (GRCm39)	V254M	possibly damaging	Het
Dhrs9	G	T	2: 69,228,067 (GRCm39)	W227L	possibly damaging	Het
Heca	G	A	10: 17,783,856 (GRCm39)	R104*	probably null	Het
Irx4	G	T	13: 73,416,545 (GRCm39)	A314S	probably benign	Het
Map1s	T	C	8: 71,366,442 (GRCm39)	V449A	probably damaging	Het
Mapk1	A	G	16: 16,844,249 (GRCm39)	D7G	probably damaging	Het
Mapre3	G	T	5: 31,019,886 (GRCm39)	V56F	probably damaging	Het
Mepce	G	A	5: 137,783,183 (GRCm39)	T381I	probably benign	Het
Mga	T	A	2: 119,754,140 (GRCm39)	V804E	probably damaging	Het
Myh6	T	C	14: 55,179,458 (GRCm39)	K157E	probably benign	Het
Or1e33	T	A	11: 73,738,702 (GRCm39)	H83L	probably benign	Het
Palb2	A	T	7: 121,723,752 (GRCm39)	S303T	probably damaging	Het
Phc2	C	A	4: 128,617,423 (GRCm39)	P483Q	probably damaging	Het
Polr2a	A	G	11: 69,626,339 (GRCm39)	S1604P	possibly damaging	Het
Ppp4r3a	A	G	12: 101,016,035 (GRCm39)	L39S	probably damaging	Het
Samsn1	G	A	16: 75,676,092 (GRCm39)	A101V	probably benign	Het
Spata31h1	A	T	10: 82,122,906 (GRCm39)	M3368K	possibly damaging	Het
Trpm3	A	T	19: 22,965,347 (GRCm39)	N1614I	probably benign	Het
Ubr2	T	C	17: 47,262,910 (GRCm39)	R1234G	possibly damaging	Het
Usp24	T	C	4: 106,245,032 (GRCm39)	S1291P	possibly damaging	Het
Vmn1r81	A	T	7: 11,994,584 (GRCm39)	L8*	probably null	Het
Vmn2r24	T	A	6: 123,763,981 (GRCm39)	I286N	probably benign	Het

Other mutations in Trbv3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02524:Trbv3	APN	6	41,025,599 (GRCm39)	missense	possibly damaging	0.64
IGL02727:Trbv3	APN	6	41,025,576 (GRCm39)	missense	probably benign	0.08
IGL03266:Trbv3	APN	6	41,025,658 (GRCm39)	missense	probably benign	0.25
R5941:Trbv3	UTSW	6	41,025,335 (GRCm39)	missense	probably benign	0.00
R7409:Trbv3	UTSW	6	41,025,524 (GRCm39)	missense	probably damaging	1.00
R7989:Trbv3	UTSW	6	41,025,576 (GRCm39)	missense	probably benign	0.08
R9463:Trbv3	UTSW	6	41,025,530 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATGTGCAGTCAGTCAAGC -3'
(R):5'- TGGTCTTTCAACTGAAAACTGATCC -3'

Sequencing Primer
(F):5'- TAGGAGAAACTACATTCCTGCCGTG -3'
(R):5'- CCTTAAACAGTTTAGACTTCTCCATG -3'

Posted On

2018-06-22