Mutagenetix > Incidental Mutation

Incidental Mutation 'R9599:Trav6d-3'

723484

Institutional Source

Beutler Lab

Gene Symbol

Trav6d-3

Ensembl Gene

ENSMUSG00000096600

Gene Name

T cell receptor alpha variable 6D-3

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Not available question?

Stock #

R9599 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

52725299-52726917 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 52726687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 36 (D36N)

Ref Sequence

ENSEMBL: ENSMUSP00000137760 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000181483] [ENSMUST00000184883]

AlphaFold

A0A075B6D3

Predicted Effect

probably benign
Transcript: ENSMUST00000181483
AA Change: D36N

PolyPhen 2 Score 0.354 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137760
Gene: ENSMUSG00000096600
AA Change: D36N

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:V-set	21	112	2.9e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184883
AA Change: D26N

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000139137
Gene: ENSMUSG00000096600
AA Change: D26N

Domain	Start	End	E-Value	Type
Pfam:V-set	11	102	3.8e-13	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 138,068,506	N1152S	probably benign	Het
1700007K13Rik	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,466,110		probably benign	Het
2310007B03Rik	T	C	1: 93,159,846	E95G	possibly damaging	Het
Abcb6	A	T	1: 75,174,728	Y518N	possibly damaging	Het
Actr2	G	A	11: 20,080,745	P168S	probably damaging	Het
Adam12	A	G	7: 133,964,725	V332A	probably damaging	Het
Adam23	T	C	1: 63,581,200	I805T	probably benign	Het
Adar	A	G	3: 89,747,209	T883A	probably benign	Het
Aldh3a1	A	G	11: 61,217,086	T319A	probably damaging	Het
Apcdd1	T	A	18: 62,950,198		probably null	Het
Arhgef18	C	A	8: 3,432,718	A141E	possibly damaging	Het
Bub3	A	G	7: 131,568,699	T317A	probably benign	Het
Ccdc102a	A	G	8: 94,913,273	L131P	probably damaging	Het
Ccdc60	C	A	5: 116,131,206	D452Y	probably damaging	Het
Ccdc66	T	C	14: 27,497,424	E125G	probably damaging	Het
Ccdc68	A	G	18: 69,960,421	E233G	probably damaging	Het
Cep192	A	G	18: 67,835,454	D973G	probably benign	Het
Cox5b	T	A	1: 36,691,678	M31K	probably benign	Het
Cse1l	A	G	2: 166,941,466	N780S	probably benign	Het
Cyfip1	T	C	7: 55,913,529		probably null	Het
Cyp1a1	C	T	9: 57,700,487	P133S	probably benign	Het
Dcp1a	A	G	14: 30,519,540	M436V	probably benign	Het
Dcst1	G	T	3: 89,357,768	Y258*	probably null	Het
Dhx30	T	C	9: 110,085,450	E993G	possibly damaging	Het
Disc1	A	T	8: 125,087,522	M42L	possibly damaging	Het
Dnah8	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT	17: 30,760,867		probably null	Het
Erbb2	A	T	11: 98,427,390	D484V	probably benign	Het
Fam189b	A	G	3: 89,186,792	D304G	possibly damaging	Het
Fxr2	A	G	11: 69,652,643	N657D	probably benign	Het
Gbx2	T	C	1: 89,928,913	T252A	probably damaging	Het
Gdap2	A	T	3: 100,170,948	N76I	probably damaging	Het
Gm20939	A	G	17: 94,877,238	Y438C	probably damaging	Het
Gsdma2	A	G	11: 98,649,633	E126G	possibly damaging	Het
Gsg1	T	G	6: 135,240,100	H246P	probably damaging	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Ighv1-62-1	T	C	12: 115,386,981	Q22R	possibly damaging	Het
Kcng3	A	T	17: 83,587,782	F418L	probably benign	Het
Lin54	C	A	5: 100,450,687	R593L	probably damaging	Het
Lrp1	T	A	10: 127,574,377	N1500I	probably damaging	Het
Lvrn	A	C	18: 46,866,427	S287R	probably benign	Het
Madd	G	A	2: 91,175,681	P390S	probably damaging	Het
Mapk8ip3	C	A	17: 24,899,150	R1281L	probably damaging	Het
Masp1	T	A	16: 23,452,948	T618S	probably benign	Het
Mgat5	A	G	1: 127,320,708	T116A	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mrpl39	A	G	16: 84,730,471	F176S	probably damaging	Het
Myt1l	T	C	12: 29,893,442	I953T	unknown	Het
Nedd4l	A	G	18: 65,210,329	H820R	probably damaging	Het
Nxpe3	A	T	16: 55,844,492	V455D	probably damaging	Het
Olfm4	T	C	14: 80,006,307	F105S	probably damaging	Het
Olfr1329	C	T	4: 118,916,654	R271Q	probably benign	Het
Papd4	G	T	13: 93,186,313	Q43K	probably benign	Het
Patz1	A	G	11: 3,290,720	N36S	probably benign	Het
Peg3	T	A	7: 6,711,724	K166N	probably damaging	Het
Pes1	T	A	11: 3,976,118	D302E	probably benign	Het
Plekhh3	G	A	11: 101,164,146	T627M	unknown	Het
Plxnd1	C	T	6: 115,963,313	R1370Q	possibly damaging	Het
Rnf20	T	C	4: 49,638,751	V191A	probably benign	Het
Scn8a	A	T	15: 101,013,291	K864M	probably damaging	Het
Sema3c	T	C	5: 17,714,454		probably null	Het
Slc24a4	C	T	12: 102,131,520	T30I	probably benign	Het
Slc27a2	A	G	2: 126,578,984	D465G	probably damaging	Het
Snrnp48	T	C	13: 38,209,944	M75T	probably benign	Het
Srgap2	A	G	1: 131,344,426	S41P		Het
St3gal5	A	G	6: 72,153,596	T391A	probably benign	Het
Stkld1	T	C	2: 26,953,285	L628P	possibly damaging	Het
Tbc1d1	T	A	5: 64,345,358	M1074K	probably benign	Het
Tpsb2	T	A	17: 25,367,103	Y98*	probably null	Het
Trim16	A	G	11: 62,840,818	Y505C	probably damaging	Het
Ttpal	A	G	2: 163,615,538	D310G	probably benign	Het
Ubox5	A	G	2: 130,599,915	I284T	probably damaging	Het
Vmn2r45	T	A	7: 8,475,458		probably null	Het
Vmn2r67	T	C	7: 85,155,733	D57G	probably damaging	Het
Wdfy4	T	C	14: 33,133,471	T729A		Het
Wdr81	A	T	11: 75,453,523	M306K	probably benign	Het
Zfp62	A	G	11: 49,215,715	D211G	probably damaging	Het
Zfyve16	T	C	13: 92,500,255	K1316E	probably damaging	Het

Other mutations in Trav6d-3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
teed_off	UTSW	14	52725342	missense	probably damaging	1.00
R2445:Trav6d-3	UTSW	14	52726828	missense	probably damaging	1.00
R4173:Trav6d-3	UTSW	14	52725349	missense	probably benign	0.00
R7215:Trav6d-3	UTSW	14	52725342	missense	probably damaging	1.00
R9132:Trav6d-3	UTSW	14	52726753	missense	possibly damaging	0.64

Predicted Primers

PCR Primer
(F):5'- GCAGGGCAACATTTGGAAC -3'
(R):5'- ACTGTGTCACTCATAGCACAG -3'

Sequencing Primer
(F):5'- CAGGGCAACATTTGGAACAGAAATAC -3'
(R):5'- CTGTGTCACTCATAGCACAGTAGTAC -3'

Posted On

2022-08-09