Mutagenetix > Incidental Mutation

Incidental Mutation 'R4109:Trav13-2'

317216

Institutional Source

Beutler Lab

Gene Symbol

Trav13-2

Ensembl Gene

ENSMUSG00000076846

Gene Name

T cell receptor alpha variable 13-2

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

R4109 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53872345-53872856 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 53872698 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 58 (H58P)

Ref Sequence

ENSEMBL: ENSMUSP00000100435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103658]

AlphaFold

A0A075B649

Predicted Effect

probably benign
Transcript: ENSMUST00000103658
AA Change: H58P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000100435
Gene: ENSMUSG00000076846
AA Change: H58P

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
IGv	38	109	1.55e-9	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	A	T	9: 124,057,733 (GRCm39)	D59E	probably benign	Het
Acads	T	C	5: 115,248,913 (GRCm39)	*302W	probably null	Het
Aldh1l1	A	G	6: 90,539,626 (GRCm39)	E185G	probably benign	Het
Arhgap20	A	G	9: 51,727,985 (GRCm39)	H66R	possibly damaging	Het
Arhgap31	A	G	16: 38,422,788 (GRCm39)	S1093P	probably damaging	Het
Atg2a	A	G	19: 6,308,404 (GRCm39)	T1646A	possibly damaging	Het
Cd200r1	C	G	16: 44,610,447 (GRCm39)	T185S	possibly damaging	Het
Cnbd2	T	C	2: 156,177,318 (GRCm39)	V92A	probably damaging	Het
Col1a2	A	T	6: 4,510,705 (GRCm39)	R52*	probably null	Het
Eml5	T	C	12: 98,807,807 (GRCm39)		probably null	Het
Ifi206	T	G	1: 173,308,554 (GRCm39)	T481P	probably benign	Het
Nfya	G	T	17: 48,699,912 (GRCm39)	Y37*	probably null	Het
Nos1ap	A	T	1: 170,146,237 (GRCm39)	M439K	probably benign	Het
Paxbp1	T	A	16: 90,813,786 (GRCm39)	T864S	probably benign	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Satb1	A	G	17: 52,111,378 (GRCm39)	V160A	probably damaging	Het
Scn3a	A	G	2: 65,325,379 (GRCm39)	I1046T	probably benign	Het
Setd1b	TCCACCACCACCACCACCACCACCA	TCCACCACCACCACCACCACCA	5: 123,290,137 (GRCm39)		probably benign	Het
Slc19a3	A	T	1: 83,000,678 (GRCm39)	F113Y	probably damaging	Het
Slc1a7	T	C	4: 107,825,858 (GRCm39)	V39A	probably benign	Het
Spire1	T	C	18: 67,630,287 (GRCm39)	Q338R	probably damaging	Het
Supt16	T	C	14: 52,400,188 (GRCm39)	E985G	probably damaging	Het
Tmprss11f	T	C	5: 86,677,795 (GRCm39)	K325E	possibly damaging	Het
Tpo	G	A	12: 30,142,585 (GRCm39)	P713L	probably damaging	Het
Trbv13-2	A	T	6: 41,098,578 (GRCm39)	Y51F	probably benign	Het
Ttn	G	C	2: 76,581,215 (GRCm39)	A23226G	probably damaging	Het
Ttn	C	T	2: 76,608,809 (GRCm39)	V15990I	probably benign	Het
Zan	G	A	5: 137,456,881 (GRCm39)	T1285I	unknown	Het

Other mutations in Trav13-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00435:Trav13-2	APN	14	53,872,688 (GRCm39)	missense	possibly damaging	0.92
IGL01975:Trav13-2	APN	14	53,872,823 (GRCm39)	missense	possibly damaging	0.95
IGL02049:Trav13-2	APN	14	53,872,603 (GRCm39)	missense	probably damaging	0.98
IGL02049:Trav13-2	APN	14	53,872,602 (GRCm39)	missense	possibly damaging	0.85
IGL02049:Trav13-2	APN	14	53,872,604 (GRCm39)	missense	possibly damaging	0.92
IGL02977:Trav13-2	APN	14	53,872,764 (GRCm39)	missense	probably damaging	0.99
R7493:Trav13-2	UTSW	14	53,872,363 (GRCm39)	missense	possibly damaging	0.85

Predicted Primers

PCR Primer
(F):5'- AGGATCTGGCTCAGCACATG -3'
(R):5'- GGGGAGCACTGTGGATCTATAG -3'

Sequencing Primer
(F):5'- ACCTTCTCAGAGGCCATGG -3'
(R):5'- GCACTGTGGATCTATAGCACAG -3'

Posted On

2015-05-15