Mutagenetix > Incidental Mutation

Incidental Mutation 'R0100:Trav7-6'

17911

Institutional Source

Beutler Lab

Gene Symbol

Trav7-6

Ensembl Gene

ENSMUSG00000096138

Gene Name

T cell receptor alpha variable 7-6

Synonyms

MMRRC Submission

038386-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R0100 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

53954217-53954748 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53954529 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 20 (S20P)

Ref Sequence

ENSEMBL: ENSMUSP00000139015 (fasta)

Gene Model

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

AlphaFold

A0A075B6D1

Predicted Effect

probably damaging
Transcript: ENSMUST00000103641
AA Change: S40P

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100418
Gene: ENSMUSG00000096138
AA Change: S40P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000103666

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100443
Gene: ENSMUSG00000096138

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000184687
AA Change: S20P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139015
Gene: ENSMUSG00000096138
AA Change: S20P

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 90.3%
3x: 88.1%
10x: 82.7%
20x: 75.2%

Validation Efficiency

89% (68/76)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,259,415 (GRCm39)	C814R	probably damaging	Het
Aoc1	T	C	6: 48,885,538 (GRCm39)	I681T	possibly damaging	Het
Atp13a4	T	C	16: 29,240,542 (GRCm39)	H793R	probably damaging	Het
Atp6v0a4	T	C	6: 38,053,750 (GRCm39)	I351V	probably benign	Het
Bbof1	T	A	12: 84,457,829 (GRCm39)	D31E	probably benign	Het
Cpxm2	T	A	7: 131,656,600 (GRCm39)	H554L	possibly damaging	Het
Ddx55	C	T	5: 124,694,845 (GRCm39)	T91I	probably damaging	Het
Dhx57	T	C	17: 80,582,585 (GRCm39)	D340G	possibly damaging	Het
Dnah1	C	T	14: 30,984,109 (GRCm39)		probably null	Het
Dpp9	C	T	17: 56,512,854 (GRCm39)	G118D	possibly damaging	Het
Etl4	T	C	2: 20,344,716 (GRCm39)	S4P	probably benign	Het
Fat4	A	C	3: 39,034,397 (GRCm39)	N2683T	probably damaging	Het
Gabrb2	A	G	11: 42,378,141 (GRCm39)	D119G	probably damaging	Het
Garre1	A	G	7: 33,953,436 (GRCm39)	I442T	possibly damaging	Het
Greb1	T	A	12: 16,730,225 (GRCm39)	Q1734L	probably benign	Het
Gtf2ird2	T	C	5: 134,245,857 (GRCm39)	L705P	probably damaging	Het
H13	T	A	2: 152,531,783 (GRCm39)		probably null	Het
Hgs	T	G	11: 120,373,678 (GRCm39)	Y708D	possibly damaging	Het
Hip1	T	C	5: 135,465,307 (GRCm39)	D367G	probably benign	Het
Ift140	C	T	17: 25,309,928 (GRCm39)	Q1112*	probably null	Het
Il17b	A	G	18: 61,823,342 (GRCm39)	M59V	probably benign	Het
Lpin3	T	C	2: 160,747,260 (GRCm39)	Y829H	probably damaging	Het
Lrrk2	A	T	15: 91,629,999 (GRCm39)	N1230I	probably damaging	Het
Mindy2	C	A	9: 70,514,731 (GRCm39)		probably benign	Het
Nup210	T	G	6: 91,046,175 (GRCm39)	E586A	probably benign	Het
Or1j17	A	T	2: 36,578,923 (GRCm39)	N303I	probably benign	Het
Or2bd2	C	T	7: 6,443,399 (GRCm39)	R167C	probably damaging	Het
Or5be3	T	C	2: 86,863,939 (GRCm39)	T209A	probably benign	Het
Osgepl1	A	G	1: 53,362,372 (GRCm39)	I405V	probably damaging	Het
Pdcd11	T	C	19: 47,091,105 (GRCm39)	S360P	probably benign	Het
Plekha6	T	C	1: 133,197,915 (GRCm39)	S271P	probably damaging	Het
Plekhs1	A	G	19: 56,466,934 (GRCm39)	E255G	probably damaging	Het
Pram1	T	A	17: 33,860,373 (GRCm39)	N313K	possibly damaging	Het
Rapgef5	C	T	12: 117,685,034 (GRCm39)	S261L	probably benign	Het
Spint5	T	A	2: 164,558,920 (GRCm39)	C49S	probably damaging	Het
Tex22	T	A	12: 113,052,392 (GRCm39)	I150N	probably benign	Het
Thoc6	A	T	17: 23,888,824 (GRCm39)	W195R	probably damaging	Het
Tmem106a	T	C	11: 101,477,084 (GRCm39)	S98P	probably benign	Het
Tnfrsf18	A	G	4: 156,112,823 (GRCm39)	T170A	probably benign	Het
Tor1aip1	A	T	1: 155,882,821 (GRCm39)	D342E	probably damaging	Het
Trpc6	C	T	9: 8,653,035 (GRCm39)	P614S	probably damaging	Het
Washc5	A	G	15: 59,215,947 (GRCm39)	F811L	possibly 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
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
R9014:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign
R9015:Trav7-6	UTSW	14	53,954,604 (GRCm39)	missense	probably benign

Posted On

2013-03-25