Mutagenetix > Incidental Mutation

Incidental Mutation 'R3878:Trbv13-1'

474347

Institutional Source

Beutler Lab

Gene Symbol

Trbv13-1

Ensembl Gene

ENSMUSG00000076467

Gene Name

T cell receptor beta, variable 13-1

Synonyms

Tcrb-V8.3

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R3878 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41092970-41093402 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41093322 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 86 (T86I)

Ref Sequence

ENSEMBL: ENSMUSP00000142225 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103267] [ENSMUST00000103268] [ENSMUST00000103269] [ENSMUST00000194399]

AlphaFold

A0A075B5I3

Predicted Effect

probably benign
Transcript: ENSMUST00000103267

SMART Domains

Protein: ENSMUSP00000100083
Gene: ENSMUSG00000095574

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:V-set	30	124	9.5e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103268
AA Change: T85I

PolyPhen 2 Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100084
Gene: ENSMUSG00000076467
AA Change: T85I

Domain	Start	End	E-Value	Type
IGv	34	109	2.13e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000103269

SMART Domains

Protein: ENSMUSP00000100085
Gene: ENSMUSG00000094525

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
Pfam:V-set	30	124	4.3e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000194399
AA Change: T86I

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000142225
Gene: ENSMUSG00000076467
AA Change: T86I

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	35	110	8.9e-10	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	C	T	2: 130,247,560 (GRCm39)	T32M	probably benign	Het
A2ml1	T	C	6: 128,531,324 (GRCm39)	S915G	probably benign	Het
Ablim1	T	C	19: 57,025,642 (GRCm39)		probably null	Het
Atosb	T	G	4: 43,035,867 (GRCm39)	H288P	probably damaging	Het
Cadm2	C	T	16: 66,612,329 (GRCm39)	E78K	probably damaging	Het
Ceacam5	C	T	7: 17,484,506 (GRCm39)	P416L	probably damaging	Het
Chsy3	T	C	18: 59,542,845 (GRCm39)	F661S	probably damaging	Het
Clstn3	G	A	6: 124,434,901 (GRCm39)	T338I	probably damaging	Het
Ctif	A	G	18: 75,653,048 (GRCm39)	I403T	probably damaging	Het
Dnaaf9	T	C	2: 130,620,423 (GRCm39)	R237G	possibly damaging	Het
Eprs1	T	A	1: 185,148,150 (GRCm39)		probably null	Het
Frs2	A	C	10: 116,914,815 (GRCm39)	S35A	probably benign	Het
Gpr155	C	T	2: 73,198,736 (GRCm39)	W394*	probably null	Het
Ift140	G	A	17: 25,247,918 (GRCm39)	V259M	probably benign	Het
Igkv9-124	A	T	6: 67,919,191 (GRCm39)	S74T	probably benign	Het
Krt14	C	T	11: 100,097,915 (GRCm39)	V123M	possibly damaging	Het
Mcm2	G	A	6: 88,869,990 (GRCm39)	R60C	probably damaging	Het
Nebl	T	C	2: 17,398,063 (GRCm39)	T457A	possibly damaging	Het
Nlrp4g	A	G	9: 124,349,362 (GRCm38)		noncoding transcript	Het
Nsa2	C	G	13: 97,268,542 (GRCm39)	G175A	probably benign	Het
Or8k40	T	C	2: 86,584,972 (GRCm39)	T37A	probably benign	Het
Pax1	A	T	2: 147,204,228 (GRCm39)		probably benign	Het
Pdzd2	T	C	15: 12,376,262 (GRCm39)	E1291G	probably benign	Het
Relb	G	A	7: 19,351,769 (GRCm39)	H115Y	probably damaging	Het
Rnase10	A	G	14: 51,246,889 (GRCm39)	E52G	probably damaging	Het
Sla2	G	A	2: 156,717,862 (GRCm39)	R137C	probably damaging	Het
Slc14a2	C	T	18: 78,202,289 (GRCm39)	V614I	probably benign	Het
Slc20a2	T	C	8: 23,058,399 (GRCm39)	L645P	possibly damaging	Het
Smoc2	A	G	17: 14,545,879 (GRCm39)	D56G	probably damaging	Het
Szt2	A	G	4: 118,247,782 (GRCm39)	S789P	probably damaging	Het
Tenm2	A	G	11: 36,030,401 (GRCm39)		probably null	Het
Tm9sf3	A	G	19: 41,235,152 (GRCm39)	V169A	probably damaging	Het
Trim24	A	G	6: 37,941,708 (GRCm39)	D886G	probably benign	Het
Trim33	A	G	3: 103,259,321 (GRCm39)	I1003M	probably damaging	Het
Trim37	T	C	11: 87,096,828 (GRCm39)	V777A	probably benign	Het
Ttc7	A	C	17: 87,678,166 (GRCm39)		probably benign	Het
Ttn	T	C	2: 76,596,364 (GRCm39)	D11856G	possibly damaging	Het
Vmn1r226	A	T	17: 20,908,260 (GRCm39)	D164V	possibly damaging	Het
Vmn1r34	G	A	6: 66,614,552 (GRCm39)	T62I	possibly damaging	Het
Wapl	T	C	14: 34,414,104 (GRCm39)	L322P	probably damaging	Het
Zfp62	A	G	11: 49,105,960 (GRCm39)	D17G	probably damaging	Het

Other mutations in Trbv13-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01916:Trbv13-1	APN	6	41,093,246 (GRCm39)	missense	probably damaging	1.00
IGL03002:Trbv13-1	APN	6	41,093,169 (GRCm39)	missense	probably benign	0.06
IGL03008:Trbv13-1	APN	6	41,093,229 (GRCm39)	missense	probably damaging	1.00
R2698:Trbv13-1	UTSW	6	41,093,372 (GRCm39)	missense	probably damaging	0.98
R2970:Trbv13-1	UTSW	6	41,093,310 (GRCm39)	missense	possibly damaging	0.68
R5013:Trbv13-1	UTSW	6	41,093,189 (GRCm39)	nonsense	probably null
R6113:Trbv13-1	UTSW	6	41,093,313 (GRCm39)	missense	probably benign	0.10
R7239:Trbv13-1	UTSW	6	41,093,325 (GRCm39)	missense	probably benign	0.00

Predicted Primers

Posted On

2017-04-14