Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02270:Trav15-1-dv6-1'

287111

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav15-1-dv6-1

Ensembl Gene

ENSMUSG00000094016

Gene Name

T cell receptor alpha variable 15-1-DV6-1

Synonyms

Gm16591

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

IGL02270

Quality Score

Status

Chromosome

Chromosomal Location

53797133-53797704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53797455 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 35 (E35K)

Ref Sequence

ENSEMBL: ENSMUSP00000143712 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103653] [ENSMUST00000200101]

AlphaFold

Q5R1D2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103653
AA Change: E34K

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000100430
Gene: ENSMUSG00000094016
AA Change: E34K

Domain	Start	End	E-Value	Type
IGv	37	113	4.32e-8	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200101
AA Change: E35K

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143712
Gene: ENSMUSG00000094016
AA Change: E35K

Domain	Start	End	E-Value	Type
IGv	38	114	4.32e-8	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	T	C	13: 81,707,314 (GRCm39)		probably null	Het
Bmi1	T	A	2: 18,689,269 (GRCm39)	S318T	probably benign	Het
Cntnap5c	G	A	17: 58,341,848 (GRCm39)	V180I	probably benign	Het
Cyp2b10	A	G	7: 25,613,362 (GRCm39)	E186G	probably damaging	Het
Ddx25	G	T	9: 35,465,708 (GRCm39)		probably benign	Het
Dis3	A	G	14: 99,315,790 (GRCm39)	F901L	probably benign	Het
Dnah7a	T	A	1: 53,512,052 (GRCm39)	N3003I	possibly damaging	Het
Ebf2	A	G	14: 67,476,402 (GRCm39)	D124G	probably damaging	Het
Efcab5	A	T	11: 76,995,139 (GRCm39)	I1144N	probably damaging	Het
Exoc4	G	A	6: 33,556,961 (GRCm39)	V489I	possibly damaging	Het
Garem1	A	G	18: 21,281,507 (GRCm39)	V283A	probably damaging	Het
Gfra2	G	A	14: 71,163,347 (GRCm39)	R210H	possibly damaging	Het
Gli3	T	C	13: 15,901,371 (GRCm39)		probably benign	Het
Gm7247	A	T	14: 51,759,341 (GRCm39)	M107L	probably benign	Het
Map2k5	A	T	9: 63,229,479 (GRCm39)		probably null	Het
Mki67	C	T	7: 135,300,361 (GRCm39)	D1558N	probably damaging	Het
Mylk4	A	G	13: 32,913,049 (GRCm39)		probably benign	Het
Or14j9	G	T	17: 37,874,471 (GRCm39)	H244N	possibly damaging	Het
Or1e16	A	G	11: 73,286,191 (GRCm39)	V219A	probably benign	Het
Or52n5	A	G	7: 104,588,576 (GRCm39)	N281S	possibly damaging	Het
Or6a2	A	T	7: 106,600,630 (GRCm39)	C146S	probably damaging	Het
Plcd1	T	C	9: 118,913,709 (GRCm39)	T50A	probably damaging	Het
Rasgrp3	A	G	17: 75,823,368 (GRCm39)	R480G	probably benign	Het
Ripor3	T	C	2: 167,835,416 (GRCm39)	E185G	probably damaging	Het
S1pr3	T	C	13: 51,573,092 (GRCm39)	I91T	probably benign	Het
Slc26a4	C	T	12: 31,578,853 (GRCm39)		probably benign	Het
Slc28a3	T	C	13: 58,728,398 (GRCm39)	T104A	probably benign	Het
Slc6a11	A	G	6: 114,215,357 (GRCm39)	D419G	probably damaging	Het
St3gal2	A	G	8: 111,684,398 (GRCm39)	I19V	probably benign	Het
Sycp1	C	A	3: 102,803,259 (GRCm39)	C517F	probably benign	Het
Vmn1r121	T	C	7: 20,832,401 (GRCm39)	E13G	probably damaging	Het
Vmn1r199	T	A	13: 22,567,176 (GRCm39)	S114T	probably damaging	Het
Vmn2r129	T	C	4: 156,686,950 (GRCm39)		noncoding transcript	Het

Other mutations in Trav15-1-dv6-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Trav15-1-dv6-1	APN	14	53,797,492 (GRCm39)	missense	possibly damaging	0.94
IGL02490:Trav15-1-dv6-1	APN	14	53,797,588 (GRCm39)	missense	probably benign	0.00
IGL03205:Trav15-1-dv6-1	APN	14	53,797,485 (GRCm39)	missense	probably damaging	1.00
R4607:Trav15-1-dv6-1	UTSW	14	53,797,511 (GRCm39)	missense	probably benign	0.01
R6188:Trav15-1-dv6-1	UTSW	14	53,797,414 (GRCm39)	missense	probably damaging	0.99
R8518:Trav15-1-dv6-1	UTSW	14	53,797,666 (GRCm39)	missense	probably benign
R8857:Trav15-1-dv6-1	UTSW	14	53,797,615 (GRCm39)	missense	probably damaging	1.00
R9178:Trav15-1-dv6-1	UTSW	14	53,797,519 (GRCm39)	missense	probably damaging	1.00
Z1177:Trav15-1-dv6-1	UTSW	14	53,797,402 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16