Mutagenetix > Incidental Mutation

Incidental Mutation 'R5656:Trbv13-2'

442314

Institutional Source

Beutler Lab

Gene Symbol

Trbv13-2

Ensembl Gene

ENSMUSG00000076469

Gene Name

T cell receptor beta, variable 13-2

Synonyms

Tcrb-V8.2

MMRRC Submission

043302-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R5656 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41098330-41098766 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 41098628 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 68 (Y68N)

Ref Sequence

ENSEMBL: ENSMUSP00000100086 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103269] [ENSMUST00000103270]

AlphaFold

A0A140T8N6

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: ENSMUST00000103270
AA Change: Y68N

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000100086
Gene: ENSMUSG00000076469
AA Change: Y68N

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	36	111	8.2e-10	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-in allele exhibit abnormal T cell differentiation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,144 (GRCm39)	S139G	probably benign	Het
Adrb3	T	C	8: 27,717,405 (GRCm39)	D348G	probably damaging	Het
Atg2b	A	G	12: 105,587,587 (GRCm39)	V1959A	probably benign	Het
Bicral	G	A	17: 47,119,295 (GRCm39)	T742M	probably damaging	Het
Bub1b	T	A	2: 118,435,912 (GRCm39)	I60N	probably damaging	Het
Ccdc162	A	G	10: 41,445,930 (GRCm39)	V414A	probably benign	Het
Cd22	T	G	7: 30,569,198 (GRCm39)	Y612S	probably damaging	Het
Cd68	T	A	11: 69,555,247 (GRCm39)	I320F	probably damaging	Het
Clca3a2	A	T	3: 144,503,393 (GRCm39)	N852K	probably benign	Het
Cpa6	T	A	1: 10,399,739 (GRCm39)	H363L	probably benign	Het
Ddx18	A	T	1: 121,489,087 (GRCm39)	L320Q	probably damaging	Het
Dnah5	A	G	15: 28,421,210 (GRCm39)	D3849G	probably benign	Het
Eci1	T	A	17: 24,656,283 (GRCm39)	N164K	probably damaging	Het
Efs	T	C	14: 55,154,584 (GRCm39)	T552A	probably damaging	Het
Fbp1	C	A	13: 63,023,010 (GRCm39)	V96L	probably damaging	Het
Gtf3c1	T	A	7: 125,261,826 (GRCm39)	N1139I	probably benign	Het
Gucy1b2	T	C	14: 62,660,430 (GRCm39)	Y152C	probably damaging	Het
Gxylt1	A	T	15: 93,143,542 (GRCm39)	L362Q	probably damaging	Het
Iqcd	A	G	5: 120,743,191 (GRCm39)		probably null	Het
Klhl41	T	A	2: 69,513,876 (GRCm39)	I585N	possibly damaging	Het
Map6	A	G	7: 98,985,505 (GRCm39)	K470E	probably damaging	Het
Mast3	T	C	8: 71,238,865 (GRCm39)	T496A	probably damaging	Het
Mbd6	A	T	10: 127,121,155 (GRCm39)		probably benign	Het
Melk	A	G	4: 44,312,237 (GRCm39)	K183R	possibly damaging	Het
Mta1	T	C	12: 113,086,759 (GRCm39)	V152A	probably damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Nav3	A	C	10: 109,600,494 (GRCm39)	S1378A	probably damaging	Het
Ncapd3	T	A	9: 26,962,941 (GRCm39)	D415E	possibly damaging	Het
Nlrp4f	G	A	13: 65,338,685 (GRCm39)	R651*	probably null	Het
Or1e1f	T	A	11: 73,855,536 (GRCm39)	M34K	probably damaging	Het
Or5b121	A	G	19: 13,507,744 (GRCm39)	T280A	probably benign	Het
Or5p72	A	G	7: 108,021,825 (GRCm39)	I16V	probably benign	Het
P2rx7	A	T	5: 122,811,780 (GRCm39)	R364W	probably damaging	Het
Phactr2	T	C	10: 13,264,447 (GRCm39)	D2G	probably benign	Het
Phc3	G	T	3: 31,020,015 (GRCm39)	S28R	probably damaging	Het
Ppfia1	A	T	7: 144,073,711 (GRCm39)		probably null	Het
Prdm10	C	T	9: 31,264,713 (GRCm39)	T667M	probably benign	Het
Pwwp2b	T	A	7: 138,835,887 (GRCm39)	S443T	possibly damaging	Het
Pzp	T	C	6: 128,467,035 (GRCm39)	T1113A	probably damaging	Het
Rapgef6	A	G	11: 54,526,962 (GRCm39)	E551G	possibly damaging	Het
Sec23ip	A	G	7: 128,378,508 (GRCm39)	Y774C	probably damaging	Het
Setdb2	T	C	14: 59,656,567 (GRCm39)	D266G	probably damaging	Het
Shank1	T	C	7: 44,002,310 (GRCm39)	V1343A	probably benign	Het
Slf2	T	A	19: 44,961,674 (GRCm39)	D1064E	probably benign	Het
Slu7	A	G	11: 43,334,245 (GRCm39)	K424E	probably benign	Het
Smg1	A	T	7: 117,753,887 (GRCm39)		probably benign	Het
Sptlc2	A	T	12: 87,393,535 (GRCm39)	L264Q	probably damaging	Het
Sra1	A	G	18: 36,811,460 (GRCm39)	S93P	probably damaging	Het
Sult1c2	T	C	17: 54,271,680 (GRCm39)	E169G	probably benign	Het
Sv2a	A	G	3: 96,092,888 (GRCm39)	D196G	probably damaging	Het
Tbc1d22b	A	G	17: 29,813,754 (GRCm39)	I362M	probably damaging	Het
Tenm3	T	C	8: 48,681,797 (GRCm39)	D2611G	probably damaging	Het
Tmem43	T	C	6: 91,457,690 (GRCm39)	F191L	probably benign	Het
Ttn	T	G	2: 76,604,998 (GRCm39)	D18312A	possibly damaging	Het
Ublcp1	A	G	11: 44,356,433 (GRCm39)	V95A	probably damaging	Het
Usp17ld	A	G	7: 102,900,047 (GRCm39)	V295A	probably damaging	Het
Vmn1r29	T	A	6: 58,285,152 (GRCm39)	L291M	possibly damaging	Het
Vsig10l	C	T	7: 43,113,575 (GRCm39)	R176*	probably null	Het
Zbtb46	A	G	2: 181,065,210 (GRCm39)		probably null	Het
Zfp644	A	G	5: 106,785,848 (GRCm39)	V233A	probably benign	Het

Other mutations in Trbv13-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02799:Trbv13-2	UTSW	6	41,098,471 (GRCm39)	critical splice acceptor site	probably benign
PIT4354001:Trbv13-2	UTSW	6	41,098,752 (GRCm39)	missense	probably damaging	1.00
R2961:Trbv13-2	UTSW	6	41,098,574 (GRCm39)	missense	probably damaging	0.98
R4109:Trbv13-2	UTSW	6	41,098,578 (GRCm39)	missense	probably benign	0.22
R5104:Trbv13-2	UTSW	6	41,098,745 (GRCm39)	missense	probably damaging	1.00
R7754:Trbv13-2	UTSW	6	41,098,634 (GRCm39)	missense	probably benign	0.02
R7839:Trbv13-2	UTSW	6	41,098,521 (GRCm39)	missense	probably benign	0.00
R8048:Trbv13-2	UTSW	6	41,098,493 (GRCm39)	missense	probably damaging	0.96
R8348:Trbv13-2	UTSW	6	41,098,474 (GRCm39)	missense	probably benign	0.00
R8448:Trbv13-2	UTSW	6	41,098,474 (GRCm39)	missense	probably benign	0.00
R8711:Trbv13-2	UTSW	6	41,098,716 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- TCAAGTGAGTGCTGGTCAGG -3'
(R):5'- GTACACAGGCACTTTGTTCTC -3'

Sequencing Primer
(F):5'- CCCAAGTCTTTTTGCTAAGATGAC -3'
(R):5'- CCTTATTTCCTTTCTGTGCAGAGGG -3'

Posted On

2016-11-09