Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01298:Trbv19'

73205

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trbv19

Ensembl Gene

ENSMUSG00000076475

Gene Name

T cell receptor beta, variable 19

Synonyms

Gm16780, Tcrb-V6

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01298

Quality Score

Status

Chromosome

Chromosomal Location

41155523-41155982 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41155838 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 70 (Y70H)

Ref Sequence

ENSEMBL: ENSMUSP00000100092 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103276]

AlphaFold

A0A0B4J1H4

Predicted Effect

probably damaging
Transcript: ENSMUST00000103276
AA Change: Y70H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100092
Gene: ENSMUSG00000076475
AA Change: Y70H

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
IG	30	101	2.71e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194256

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adora2a	G	T	10: 75,169,326 (GRCm39)	W263C	probably damaging	Het
Agtpbp1	G	A	13: 59,652,040 (GRCm39)	H424Y	possibly damaging	Het
Angpt2	T	G	8: 18,760,544 (GRCm39)	N186T	probably benign	Het
Ank2	A	G	3: 126,753,369 (GRCm39)	V304A	possibly damaging	Het
Atg3	T	C	16: 44,992,036 (GRCm39)	M88T	possibly damaging	Het
Baz1a	G	T	12: 55,001,594 (GRCm39)	P142Q	probably damaging	Het
Btbd1	G	T	7: 81,444,055 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,537,734 (GRCm39)	Y70H	probably damaging	Het
Cd4	G	A	6: 124,856,341 (GRCm39)	T50I	probably benign	Het
Cyp7a1	A	T	4: 6,275,517 (GRCm39)	W19R	probably damaging	Het
Dock10	T	A	1: 80,508,962 (GRCm39)	I1610F	probably damaging	Het
Gm11444	C	A	11: 85,738,920 (GRCm39)	D58Y	unknown	Het
Gm7168	A	T	17: 14,170,120 (GRCm39)	T496S	probably benign	Het
Gpc5	A	G	14: 115,636,600 (GRCm39)	S428G	probably benign	Het
Haus8	T	C	8: 71,705,757 (GRCm39)	E309G	probably damaging	Het
Ice1	A	G	13: 70,753,023 (GRCm39)	L1021P	possibly damaging	Het
Krtap14	A	T	16: 88,622,615 (GRCm39)	H121Q	probably benign	Het
Nwd1	T	C	8: 73,388,959 (GRCm39)	V170A	probably benign	Het
Or1j10	T	A	2: 36,267,460 (GRCm39)	M224K	probably benign	Het
Or6c3b	T	C	10: 129,527,898 (GRCm39)	Y4C	probably damaging	Het
Or8g24	G	A	9: 38,990,020 (GRCm39)	T7I	possibly damaging	Het
Pfpl	T	C	19: 12,406,037 (GRCm39)	M96T	possibly damaging	Het
Pramel5	A	G	4: 143,997,732 (GRCm39)		probably benign	Het
Proc	T	C	18: 32,256,605 (GRCm39)	N354S	probably benign	Het
Prss40	T	G	1: 34,599,847 (GRCm39)	I47L	probably benign	Het
Tmprss7	T	C	16: 45,484,538 (GRCm39)	R541G	probably benign	Het
Togaram2	T	C	17: 72,023,508 (GRCm39)	V788A	possibly damaging	Het
Ttk	C	T	9: 83,747,195 (GRCm39)	S678L	probably benign	Het
Vmn2r85	T	C	10: 130,254,690 (GRCm39)	T665A	probably benign	Het

Other mutations in Trbv19

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4961:Trbv19	UTSW	6	41,155,706 (GRCm39)	missense	probably damaging	1.00
R5772:Trbv19	UTSW	6	41,155,794 (GRCm39)	missense	possibly damaging	0.93
R6050:Trbv19	UTSW	6	41,155,944 (GRCm39)	missense	probably benign	0.00
R6324:Trbv19	UTSW	6	41,155,692 (GRCm39)	missense	probably damaging	1.00
R6519:Trbv19	UTSW	6	41,155,573 (GRCm39)	critical splice donor site	probably benign
R7707:Trbv19	UTSW	6	41,155,547 (GRCm39)	missense	possibly damaging	0.95
R9563:Trbv19	UTSW	6	41,155,945 (GRCm39)	missense	possibly damaging	0.86

Posted On

2013-10-07