Mutagenetix > Incidental Mutation

Incidental Mutation 'R9014:Trav7-6'

685865

Institutional Source

Beutler Lab

Gene Symbol

Trav7-6

Ensembl Gene

ENSMUSG00000096138

Gene Name

T cell receptor alpha variable 7-6

Synonyms

MMRRC Submission

068844-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R9014 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53954217-53954748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53954604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 65 (K65E)

Ref Sequence

ENSEMBL: ENSMUSP00000100418 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103641] [ENSMUST00000184687]

AlphaFold

A0A075B6D1

Predicted Effect

probably benign
Transcript: ENSMUST00000103641
AA Change: K65E

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

SMART Domains

Protein: ENSMUSP00000100418
Gene: ENSMUSG00000096138
AA Change: K65E

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IGv	38	111	8.57e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184687
AA Change: K45E

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

SMART Domains

Protein: ENSMUSP00000139015
Gene: ENSMUSG00000096138
AA Change: K45E

Domain	Start	End	E-Value	Type
IGv	18	91	8.57e-12	SMART

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	A	G	15: 81,798,857 (GRCm39)	N746S	probably benign	Het
Ahnak2	T	C	12: 112,740,170 (GRCm39)	T1301A	possibly damaging	Het
Akap6	T	A	12: 53,186,403 (GRCm39)	N1272K	possibly damaging	Het
Apc	G	T	18: 34,354,074 (GRCm39)		probably benign	Het
Arap1	A	G	7: 101,053,540 (GRCm39)	S1290G	probably damaging	Het
Arhgef25	T	C	10: 127,019,607 (GRCm39)	Y483C	probably damaging	Het
Arpp21	G	T	9: 112,006,796 (GRCm39)	Q138K	probably damaging	Het
Bahcc1	C	T	11: 120,163,715 (GRCm39)	A671V	probably benign	Het
Bahcc1	T	C	11: 120,173,048 (GRCm39)	S1557P	probably benign	Het
Bltp2	T	C	11: 78,160,488 (GRCm39)	L649P	possibly damaging	Het
Brca2	C	A	5: 150,465,219 (GRCm39)	T1661K	probably benign	Het
Casq1	T	A	1: 172,038,064 (GRCm39)	S356C	probably damaging	Het
Catsperg1	T	C	7: 28,906,066 (GRCm39)	Y171C	probably damaging	Het
Ccdc88c	G	C	12: 100,879,323 (GRCm39)	Q1926E	probably benign	Het
Cdc42bpg	T	A	19: 6,372,289 (GRCm39)	M1425K	possibly damaging	Het
Chac2	C	T	11: 30,936,158 (GRCm39)	R30Q	probably damaging	Het
Clca3a1	T	C	3: 144,442,731 (GRCm39)	D771G	probably benign	Het
Cyp26c1	T	C	19: 37,675,844 (GRCm39)		probably null	Het
Dcaf8	T	C	1: 172,007,530 (GRCm39)	V333A	possibly damaging	Het
Dennd4c	G	A	4: 86,739,702 (GRCm39)	S997N	probably benign	Het
Dennd4c	A	C	4: 86,754,666 (GRCm39)	I1559L	probably benign	Het
Dgcr8	T	G	16: 18,077,514 (GRCm39)	H632P	possibly damaging	Het
Dhx16	C	A	17: 36,193,490 (GRCm39)	R278S	probably benign	Het
Dsel	A	T	1: 111,788,509 (GRCm39)	Y675*	probably null	Het
Dsp	T	C	13: 38,376,700 (GRCm39)	I1495T	possibly damaging	Het
Fam227a	T	A	15: 79,504,958 (GRCm39)	N495I	possibly damaging	Het
Fcgbpl1	A	G	7: 27,854,876 (GRCm39)	E1834G	probably damaging	Het
Focad	T	A	4: 88,275,763 (GRCm39)	M1124K	unknown	Het
Foxi3	A	G	6: 70,937,815 (GRCm39)	H349R	probably damaging	Het
Foxp1	TTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	TTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGTTGCTGCTGCTGTTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGTTGCTGCTGCTG	6: 99,052,866 (GRCm39)		probably benign	Het
Fsip2	C	A	2: 82,806,898 (GRCm39)	D1072E	probably benign	Het
Fsip2	T	G	2: 82,817,075 (GRCm39)	H4269Q	possibly damaging	Het
Fzd10	C	G	5: 128,679,369 (GRCm39)	P363R	probably damaging	Het
Gm49383	A	C	12: 69,243,425 (GRCm39)	Y151*	probably null	Het
Ighv1-26	T	A	12: 114,752,033 (GRCm39)	S104C	probably damaging	Het
Kat6a	A	G	8: 23,430,087 (GRCm39)	N1814S	unknown	Het
Kif18a	T	A	2: 109,123,414 (GRCm39)	H229Q	probably damaging	Het
Klk1b4	C	T	7: 43,859,098 (GRCm39)	R39C	probably benign	Het
Lgr6	T	C	1: 134,931,248 (GRCm39)	I269V	probably damaging	Het
Lrtm2	A	G	6: 119,294,219 (GRCm39)	V304A	probably damaging	Het
Lsm8	A	G	6: 18,853,632 (GRCm39)	D78G	possibly damaging	Het
Mroh2b	T	C	15: 4,928,670 (GRCm39)	M1T	probably null	Het
Ms4a14	T	C	19: 11,278,871 (GRCm39)	E1229G	possibly damaging	Het
Nbeal1	G	A	1: 60,329,118 (GRCm39)	D2179N	probably damaging	Het
Nfix	G	A	8: 85,448,405 (GRCm39)	T366M	possibly damaging	Het
Or12j4	A	T	7: 140,045,883 (GRCm39)		probably benign	Het
Or56b1b	A	G	7: 108,164,882 (GRCm39)	L40P	possibly damaging	Het
Or8b49	T	C	9: 38,506,123 (GRCm39)	V202A	probably damaging	Het
Or8h9	T	A	2: 86,789,035 (GRCm39)	I256F	probably benign	Het
Pear1	T	C	3: 87,658,479 (GRCm39)	Q964R	probably benign	Het
Pgk2	T	G	17: 40,518,687 (GRCm39)	E247A	probably benign	Het
Ppfia2	C	T	10: 106,763,666 (GRCm39)	P1220S	probably benign	Het
Ppp1r1b	T	C	11: 98,241,449 (GRCm39)	S46P	probably damaging	Het
Ppp2ca	C	A	11: 52,009,510 (GRCm39)	H167Q	probably damaging	Het
Scel	A	T	14: 103,822,575 (GRCm39)	R396S	probably benign	Het
Siae	T	C	9: 37,557,639 (GRCm39)	V482A	possibly damaging	Het
Skint2	A	G	4: 112,483,026 (GRCm39)	M144V	probably benign	Het
Slc23a3	A	G	1: 75,109,274 (GRCm39)	F219L	probably benign	Het
Slc4a4	G	T	5: 89,280,245 (GRCm39)	A348S	probably damaging	Het
Spin1	G	T	13: 51,282,010 (GRCm39)		probably null	Het
Tab2	G	A	10: 7,794,920 (GRCm39)	R521W	probably damaging	Het
Tas2r118	G	A	6: 23,970,049 (GRCm39)	T4M	probably benign	Het
Tet2	T	A	3: 133,172,949 (GRCm39)	D1771V	probably damaging	Het
Tmprss15	T	C	16: 78,872,691 (GRCm39)	T172A	probably benign	Het
Txnrd3	A	G	6: 89,631,091 (GRCm39)	Y129C	probably damaging	Het
Ulk4	A	G	9: 121,017,294 (GRCm39)	I728T	probably benign	Het
Vmn1r44	G	A	6: 89,870,997 (GRCm39)	V248M	possibly damaging	Het
Wdr64	A	G	1: 175,526,395 (GRCm39)	I15V	probably benign	Het
Zdhhc17	T	C	10: 110,785,544 (GRCm39)	T423A	probably benign	Het
Zfp619	T	C	7: 39,187,246 (GRCm39)	I1092T	probably benign	Het
Zfp729b	A	T	13: 67,740,274 (GRCm39)	Y664N	probably damaging	Het

Other mutations in Trav7-6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01320:Trav7-6	APN	14	53,954,565 (GRCm39)	missense	possibly damaging	0.81
R0100:Trav7-6	UTSW	14	53,954,529 (GRCm39)	missense	probably damaging	1.00
R3023:Trav7-6	UTSW	14	53,954,701 (GRCm39)	missense	probably benign
R4020:Trav7-6	UTSW	14	53,954,638 (GRCm39)	missense	probably benign	0.19
R5049:Trav7-6	UTSW	14	53,954,536 (GRCm39)	missense	probably damaging	0.97
R7512:Trav7-6	UTSW	14	53,954,552 (GRCm39)	missense	probably benign	0.22
R8205:Trav7-6	UTSW	14	53,954,550 (GRCm39)	missense	probably benign	0.00
R8276:Trav7-6	UTSW	14	53,954,695 (GRCm39)	missense	probably benign	0.01
R9011:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign
R9012:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign
R9013:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign
R9015:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCAGTCTTGACCGTCTGAC -3'
(R):5'- TCTGAACTCCAGCTCAGACC -3'

Sequencing Primer
(F):5'- GACCTTTGTCTTTCTGCACAGGG -3'
(R):5'- CGGAGGCCCACTATGTTTG -3'

Posted On

2021-10-11