Mutagenetix > Incidental Mutation

Incidental Mutation 'R5685:Trav12-2'

443306

Institutional Source

Beutler Lab

Gene Symbol

Trav12-2

Ensembl Gene

ENSMUSG00000096656

Gene Name

T cell receptor alpha variable 12-2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5685 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53853854-53854371 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53854122 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 32 (V32A)

Ref Sequence

ENSEMBL: ENSMUSP00000137851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103657] [ENSMUST00000180972]

AlphaFold

A0N8N6

Predicted Effect

probably benign
Transcript: ENSMUST00000103657

SMART Domains

Protein: ENSMUSP00000100434
Gene: ENSMUSG00000095958

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:V-set	22	115	1e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180972
AA Change: V32A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000137851
Gene: ENSMUSG00000096656
AA Change: V32A

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:V-set	22	114	1.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199855

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028J19Rik	T	A	7: 43,879,974 (GRCm39)		probably benign	Het
Abcb5	A	T	12: 118,896,348 (GRCm39)		probably null	Het
Abcg1	G	T	17: 31,317,260 (GRCm39)	E191*	probably null	Het
Als2	A	G	1: 59,218,250 (GRCm39)	Y1263H	possibly damaging	Het
Amer2	T	A	14: 60,617,026 (GRCm39)	L281*	probably null	Het
Anxa6	T	C	11: 54,887,196 (GRCm39)	N361D	probably benign	Het
Ap1g1	A	T	8: 110,564,415 (GRCm39)	N320I	probably damaging	Het
Aqr	T	C	2: 113,986,746 (GRCm39)	D208G	possibly damaging	Het
Arnt2	T	C	7: 83,912,473 (GRCm39)	T545A	probably benign	Het
Aspm	G	A	1: 139,415,026 (GRCm39)	V2701I	probably benign	Het
Atad2	A	G	15: 57,980,194 (GRCm39)	V106A	possibly damaging	Het
Bbs2	A	C	8: 94,814,061 (GRCm39)	F186V	probably damaging	Het
Catsperg2	G	A	7: 29,400,613 (GRCm39)	P247L	probably damaging	Het
Cfap57	G	T	4: 118,426,656 (GRCm39)	Q1098K	probably benign	Het
Cxcr6	A	G	9: 123,639,811 (GRCm39)	T271A	probably benign	Het
Dock1	A	G	7: 134,374,091 (GRCm39)	E579G	probably benign	Het
Frem3	A	G	8: 81,421,932 (GRCm39)	T2111A	probably damaging	Het
Galnt1	A	T	18: 24,397,586 (GRCm39)	D229V	possibly damaging	Het
Gbp2b	A	C	3: 142,313,919 (GRCm39)	M400L	probably benign	Het
Gm1123	T	A	9: 98,891,486 (GRCm39)		probably null	Het
Gtpbp6	T	C	5: 110,252,805 (GRCm39)	H349R	probably damaging	Het
Hyal5	A	G	6: 24,876,691 (GRCm39)	K188R	probably benign	Het
Insrr	T	C	3: 87,707,803 (GRCm39)		probably null	Het
Kcnn1	A	T	8: 71,305,374 (GRCm39)	C322S	probably damaging	Het
Kdelr1	GTCTA	G	7: 45,531,041 (GRCm39)		probably null	Het
Kif23	T	C	9: 61,852,691 (GRCm39)	T8A	probably benign	Het
Lrrk2	A	T	15: 91,687,504 (GRCm39)	R2198*	probably null	Het
Mcl1	T	G	3: 95,567,109 (GRCm39)	D177E	possibly damaging	Het
Mrps11	A	T	7: 78,441,628 (GRCm39)	T137S	probably benign	Het
Mtbp	A	G	15: 55,426,168 (GRCm39)	Y90C	probably damaging	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nxt1	G	T	2: 148,517,673 (GRCm39)	W138L	possibly damaging	Het
Or5al1	T	C	2: 85,990,139 (GRCm39)	T192A	probably damaging	Het
Or5h17	T	A	16: 58,820,709 (GRCm39)	F220L	probably benign	Het
Or5t17	T	A	2: 86,832,621 (GRCm39)	S103T	probably benign	Het
Osbpl7	C	A	11: 96,951,103 (GRCm39)	P478H	probably damaging	Het
Phf8-ps	T	A	17: 33,285,746 (GRCm39)	H352L	probably benign	Het
Pitpna	T	A	11: 75,511,095 (GRCm39)	F222I	probably damaging	Het
Plekhh2	A	T	17: 84,877,310 (GRCm39)	R552W	probably damaging	Het
Plxnb2	C	T	15: 89,051,235 (GRCm39)	R328H	probably damaging	Het
Pmaip1	C	T	18: 66,594,055 (GRCm39)	T65I	probably benign	Het
Ppil4	T	G	10: 7,674,186 (GRCm39)	I110S	probably damaging	Het
Prpf38a	A	G	4: 108,427,351 (GRCm39)		probably null	Het
Psme4	G	A	11: 30,759,837 (GRCm39)	G320D	probably damaging	Het
Rab17	C	A	1: 90,886,679 (GRCm39)	R191L	probably benign	Het
Rhag	A	T	17: 41,142,222 (GRCm39)	M222L	possibly damaging	Het
Rims2	A	T	15: 39,300,602 (GRCm39)	H111L	possibly damaging	Het
Setx	T	C	2: 29,061,292 (GRCm39)	Y2234H	probably damaging	Het
Slc2a8	T	C	2: 32,871,801 (GRCm39)	I51V	possibly damaging	Het
Slc34a1	T	C	13: 55,549,085 (GRCm39)		probably null	Het
Slf1	T	C	13: 77,231,598 (GRCm39)	T594A	possibly damaging	Het
Sox6	A	T	7: 115,178,392 (GRCm39)		probably null	Het
Spata13	C	T	14: 60,928,652 (GRCm39)	S70L	probably benign	Het
Stard13	A	G	5: 150,986,592 (GRCm39)	I188T	possibly damaging	Het
Stard9	A	G	2: 120,535,803 (GRCm39)	D4020G	probably damaging	Het
Tdp1	A	G	12: 99,868,611 (GRCm39)	K255R	possibly damaging	Het
Tns2	G	T	15: 102,015,538 (GRCm39)	A124S	probably benign	Het
Top2b	T	A	14: 16,413,666 (GRCm38)	W1045R	probably damaging	Het
Vps13c	G	T	9: 67,870,455 (GRCm39)	R3198L	possibly damaging	Het
Wee1	TCCCC	TCCC	7: 109,723,776 (GRCm39)		probably null	Het
Zfp52	T	A	17: 21,782,013 (GRCm39)	S620R	probably benign	Het
Zfp62	T	A	11: 49,107,044 (GRCm39)	C378*	probably null	Het
Zfp638	C	A	6: 83,906,969 (GRCm39)	P378H	probably damaging	Het

Other mutations in Trav12-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02126:Trav12-2	APN	14	53,853,859 (GRCm39)	missense	probably damaging	1.00
IGL03165:Trav12-2	APN	14	53,854,206 (GRCm39)	missense	probably benign	0.01
R4425:Trav12-2	UTSW	14	53,854,332 (GRCm39)	missense	possibly damaging	0.63
R4858:Trav12-2	UTSW	14	53,854,150 (GRCm39)	missense	probably benign
R5320:Trav12-2	UTSW	14	53,854,356 (GRCm39)	missense	probably benign	0.29
R7813:Trav12-2	UTSW	14	53,854,223 (GRCm39)	nonsense	probably null
R8321:Trav12-2	UTSW	14	53,853,840 (GRCm39)	start gained	probably benign
R9138:Trav12-2	UTSW	14	53,854,178 (GRCm39)	missense	probably benign	0.01
R9526:Trav12-2	UTSW	14	53,854,085 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAGGCAGTCTTTAGTGTTCC -3'
(R):5'- TACAGGGCAGAGTCTGACAG -3'

Sequencing Primer
(F):5'- AGGCAGTCTTTAGTGTTCCTCCTC -3'
(R):5'- CTTCTGCAGATGGAAGGAGCTG -3'

Posted On

2016-11-09