Mutagenetix > Incidental Mutation

Incidental Mutation 'R2987:Trbv12-1'

477440

Institutional Source

Beutler Lab

Gene Symbol

Trbv12-1

Ensembl Gene

ENSMUSG00000095574

Gene Name

T cell receptor beta, variable 12-1

Synonyms

Gm16753, Tcrb-V5.2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R2987 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41090501-41091001 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41090840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 71 (E71K)

Ref Sequence

ENSEMBL: ENSMUSP00000100083 (fasta)

Gene Model

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

AlphaFold

A0A0B4J1H0

Predicted Effect

probably benign
Transcript: ENSMUST00000103267
AA Change: E71K

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100083
Gene: ENSMUSG00000095574
AA Change: E71K

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

SMART Domains

Protein: ENSMUSP00000100084
Gene: ENSMUSG00000076467

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

SMART Domains

Protein: ENSMUSP00000142225
Gene: ENSMUSG00000076467

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.2%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf3	T	C	5: 30,402,358 (GRCm39)	I557V	probably damaging	Het
Bag6	T	A	17: 35,364,661 (GRCm39)	L983*	probably null	Het
Clcn1	A	G	6: 42,275,784 (GRCm39)	Y302C	probably damaging	Het
Dlc1	A	T	8: 37,041,306 (GRCm39)	C1308S	probably damaging	Het
Ebna1bp2	A	G	4: 118,478,133 (GRCm39)	D2G	probably damaging	Het
Exoc6b	T	A	6: 84,828,929 (GRCm39)	K485I	probably damaging	Het
Galnt3	C	T	2: 65,914,585 (GRCm39)	E611K	probably benign	Het
Gm5901	A	G	7: 105,026,507 (GRCm39)	I92V	probably benign	Het
Kcnh8	A	T	17: 53,263,763 (GRCm39)	L753F	probably benign	Het
L3mbtl4	T	C	17: 68,666,513 (GRCm39)	S14P	possibly damaging	Het
Map4k4	A	G	1: 40,025,925 (GRCm39)	H305R	probably damaging	Het
Nid1	A	T	13: 13,674,258 (GRCm39)	Y879F	probably benign	Het
Nsf	A	T	11: 103,749,869 (GRCm39)		probably null	Het
Olfml2a	G	A	2: 38,837,306 (GRCm39)	V150M	probably damaging	Het
Or51a24	A	G	7: 103,734,077 (GRCm39)	V70A	probably benign	Het
Pkhd1	A	T	1: 20,174,823 (GRCm39)	D3744E	possibly damaging	Het
Pla1a	A	T	16: 38,228,104 (GRCm39)	C258S	probably damaging	Het
Plk2	A	T	13: 110,534,243 (GRCm39)	R274S	probably benign	Het
Sumf2	T	C	5: 129,875,925 (GRCm39)	L30P	possibly damaging	Het
Synpo2	T	C	3: 122,910,622 (GRCm39)	H341R	probably damaging	Het
Usp17lc	T	C	7: 103,067,509 (GRCm39)	V268A	probably damaging	Het
Vmn1r36	A	T	6: 66,693,700 (GRCm39)	H21Q	probably benign	Het

Other mutations in Trbv12-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02026:Trbv12-1	APN	6	41,090,928 (GRCm39)	missense	probably damaging	1.00
IGL02331:Trbv12-1	APN	6	41,090,972 (GRCm39)	missense	probably damaging	1.00
R0052:Trbv12-1	UTSW	6	41,090,850 (GRCm39)	missense	possibly damaging	0.95
R5345:Trbv12-1	UTSW	6	41,090,781 (GRCm39)	missense	probably benign	0.11
R6019:Trbv12-1	UTSW	6	41,090,780 (GRCm39)	missense	probably benign	0.00
R9502:Trbv12-1	UTSW	6	41,090,921 (GRCm39)	missense	probably damaging	0.98
Z1176:Trbv12-1	UTSW	6	41,090,509 (GRCm39)	missense	probably benign	0.11

Predicted Primers

Posted On

2017-05-15