Mutagenetix > Incidental Mutation

Incidental Mutation 'R4543:Trav12-3'

470207

Institutional Source

Beutler Lab

Gene Symbol

Trav12-3

Ensembl Gene

ENSMUSG00000095958

Gene Name

T cell receptor alpha variable 12-3

Synonyms

Gm14498, EG667790

MMRRC Submission

041778-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R4543 (G1)

Quality Score

123

Status

Not validated

Chromosome

Chromosomal Location

53859209-53859702 bp(+) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CTCTG to CTCTGTCTG at 53859693 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100434 (fasta)

Gene Model

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

AlphaFold

A0A075B648

Predicted Effect

probably null
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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

94% (44/47)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,789,749 (GRCm39)	S500T	probably damaging	Het
Abhd3	T	C	18: 10,706,672 (GRCm39)	D2G	possibly damaging	Het
Ablim1	C	T	19: 57,065,874 (GRCm39)	R366H	possibly damaging	Het
Adgre1	T	A	17: 57,713,874 (GRCm39)	H186Q	probably benign	Het
Ankmy1	G	T	1: 92,812,572 (GRCm39)	A579E	probably damaging	Het
Ap2b1	C	A	11: 83,215,476 (GRCm39)	T140K	probably damaging	Het
Arhgef28	T	A	13: 98,211,508 (GRCm39)	E158D	probably benign	Het
Atp8b4	A	G	2: 126,199,986 (GRCm39)	F885L	probably damaging	Het
Barx2	A	G	9: 31,758,092 (GRCm39)	L282S	unknown	Het
Catsper2	C	T	2: 121,237,890 (GRCm39)	W163*	probably null	Het
Cep295	T	C	9: 15,246,549 (GRCm39)	T588A	possibly damaging	Het
Chil3	T	G	3: 106,067,686 (GRCm39)	K160Q	probably benign	Het
Clca3a1	T	A	3: 144,452,749 (GRCm39)	Q578L	probably damaging	Het
Crp	A	C	1: 172,526,304 (GRCm39)	I130L	probably benign	Het
Dtwd2	C	A	18: 49,857,175 (GRCm39)		probably null	Het
Fads3	T	C	19: 10,019,175 (GRCm39)	F27S	possibly damaging	Het
Gm3604	T	C	13: 62,517,970 (GRCm39)	D109G	probably benign	Het
Gtf2ird1	A	G	5: 134,392,754 (GRCm39)		probably null	Het
H2-K2	C	T	17: 34,218,532 (GRCm39)		probably null	Het
Hdac5	T	C	11: 102,104,770 (GRCm39)		probably benign	Het
Il6st	G	A	13: 112,617,993 (GRCm39)	V136M	probably damaging	Het
Immt	T	C	6: 71,828,762 (GRCm39)	S106P	probably damaging	Het
Kat2b	T	C	17: 53,960,168 (GRCm39)	I492T	probably benign	Het
Kcnn2	T	C	18: 45,692,715 (GRCm39)	F97S	probably benign	Het
Kdm4c	A	G	4: 74,248,997 (GRCm39)	I84V	probably benign	Het
Kif7	G	A	7: 79,357,296 (GRCm39)	P637S	probably benign	Het
Lrrcc1	T	A	3: 14,604,851 (GRCm39)	I109K	probably damaging	Het
Med12l	T	A	3: 58,998,929 (GRCm39)	C619S	probably damaging	Het
Mgat4f	T	A	1: 134,317,531 (GRCm39)	M101K	probably benign	Het
Or8g51	A	G	9: 38,608,841 (GRCm39)	S274P	possibly damaging	Het
Polq	T	C	16: 36,881,147 (GRCm39)	C1104R	probably benign	Het
Rbfox2	A	T	15: 77,190,568 (GRCm39)	M59K	probably benign	Het
Rft1	T	C	14: 30,383,290 (GRCm39)	V110A	probably benign	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,229,129 (GRCm39)		probably benign	Het
Slc2a12	T	A	10: 22,540,685 (GRCm39)	V180D	probably damaging	Het
Sox21	CCAGCGGCGGCGGCGGCAGCGGCGGCGGCGGCAGCGGC	CCAGCGGCGGCGGCGGCAGCGGC	14: 118,472,548 (GRCm39)		probably benign	Het
Stap2	C	T	17: 56,304,604 (GRCm39)		probably null	Het
Tenm4	A	G	7: 96,545,022 (GRCm39)	N2375S	probably benign	Het
Tmem132c	A	G	5: 127,582,041 (GRCm39)	T419A	probably benign	Het
Tmprss11a	G	A	5: 86,559,668 (GRCm39)	Q375*	probably null	Het
Vmn1r88	T	A	7: 12,911,907 (GRCm39)	S88T	possibly damaging	Het
Zfp622	T	A	15: 25,991,623 (GRCm39)	D143E	possibly damaging	Het

Other mutations in Trav12-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3902:Trav12-3	UTSW	14	53,859,486 (GRCm39)	missense	probably damaging	1.00
R7153:Trav12-3	UTSW	14	53,859,618 (GRCm39)	missense	probably benign	0.27
R9733:Trav12-3	UTSW	14	53,859,474 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CCTGTGATGCTGAACTGCAC -3'
(R):5'- GACATCCATCCTATCCTGTCAG -3'

Sequencing Primer
(F):5'- GTGATGCTGAACTGCACCTATCAG -3'
(R):5'- TCCATCCTATCCTGTCAGAACAAC -3'

Posted On

2017-03-07