Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02055:Trav6-4'

185196

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav6-4

Ensembl Gene

ENSMUSG00000094468

Gene Name

T cell receptor alpha variable 6-4

Synonyms

Gm13945

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

IGL02055

Quality Score

Status

Chromosome

Chromosomal Location

53691784-53692241 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 53692237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 115 (V115I)

Ref Sequence

ENSEMBL: ENSMUSP00000137807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180711] [ENSMUST00000184650]

AlphaFold

A0A075B6D6

Predicted Effect

unknown
Transcript: ENSMUST00000103575

SMART Domains

Protein: ENSMUSP00000100352
Gene: ENSMUSG00000094468

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:V-set	25	112	3.7e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180711
AA Change: V115I

PolyPhen 2 Score 0.141 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000137807
Gene: ENSMUSG00000094468
AA Change: V115I

Domain	Start	End	E-Value	Type
Pfam:V-set	23	115	4.9e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184650
AA Change: V112I

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000139283
Gene: ENSMUSG00000094468
AA Change: V112I

Domain	Start	End	E-Value	Type
Pfam:V-set	20	112	8.2e-14	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1b1	T	A	11: 4,974,452 (GRCm39)	C353*	probably null	Het
Asl	C	T	5: 130,041,891 (GRCm39)	G309R	possibly damaging	Het
B4galnt4	T	C	7: 140,650,731 (GRCm39)	F835S	probably damaging	Het
Bltp2	A	G	11: 78,177,457 (GRCm39)	T1921A	probably damaging	Het
Carmil2	A	G	8: 106,423,539 (GRCm39)		probably benign	Het
Ccnt2	C	A	1: 127,719,447 (GRCm39)	P116T	possibly damaging	Het
Clcn1	T	G	6: 42,284,489 (GRCm39)	M609R	probably damaging	Het
Csmd1	A	G	8: 16,119,015 (GRCm39)	I1858T	probably damaging	Het
Eefsec	T	C	6: 88,353,385 (GRCm39)	I95V	probably damaging	Het
Galk2	A	G	2: 125,773,324 (GRCm39)	K252R	probably benign	Het
Gbp2	A	T	3: 142,337,991 (GRCm39)	N369I	probably benign	Het
Glis2	G	T	16: 4,431,972 (GRCm39)		probably benign	Het
Igdcc3	T	C	9: 65,088,562 (GRCm39)	V388A	possibly damaging	Het
Klhl1	A	G	14: 96,517,539 (GRCm39)	F379S	possibly damaging	Het
Or5b12	T	A	19: 12,896,930 (GRCm39)	I248F	possibly damaging	Het
Pigm	C	T	1: 172,204,732 (GRCm39)	S156L	probably benign	Het
Pikfyve	T	C	1: 65,277,703 (GRCm39)		probably null	Het
Ppp6r3	A	G	19: 3,571,781 (GRCm39)	F123L	probably benign	Het
Pum1	C	A	4: 130,481,365 (GRCm39)	S637R	probably benign	Het
Rp1	A	G	1: 4,422,745 (GRCm39)	S112P	probably damaging	Het
Serpina3k	A	T	12: 104,307,295 (GRCm39)	K176*	probably null	Het
Smad4	A	G	18: 73,774,999 (GRCm39)		probably benign	Het
Tas2r140	T	A	6: 40,468,493 (GRCm39)	F108I	probably damaging	Het
Tbc1d20	G	A	2: 152,149,978 (GRCm39)	R73H	probably damaging	Het
Tmem131l	T	C	3: 83,817,673 (GRCm39)		probably null	Het
Tmem86b	A	C	7: 4,631,762 (GRCm39)		probably benign	Het
Trim37	T	G	11: 87,057,475 (GRCm39)	V303G	probably benign	Het
Trpc7	C	T	13: 57,035,357 (GRCm39)	R192Q	probably benign	Het
Ush1g	T	C	11: 115,208,925 (GRCm39)	D423G	possibly damaging	Het
Veph1	T	A	3: 66,113,048 (GRCm39)	D252V	possibly damaging	Het
Vmn1r181	T	G	7: 23,683,978 (GRCm39)	L148V	probably damaging	Het
Vmn1r42	T	C	6: 89,822,571 (GRCm39)		probably benign	Het
Vmn2r77	T	A	7: 86,450,763 (GRCm39)	H216Q	probably benign	Het
Zfp39	A	G	11: 58,782,156 (GRCm39)	V202A	probably benign	Het

Other mutations in Trav6-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00981:Trav6-4	APN	14	53,692,153 (GRCm39)	missense	probably damaging	0.97
R4531:Trav6-4	UTSW	14	53,691,790 (GRCm39)	missense	probably benign
R4580:Trav6-4	UTSW	14	53,692,156 (GRCm39)	missense	probably damaging	1.00
R5776:Trav6-4	UTSW	14	53,692,211 (GRCm39)	missense	probably damaging	1.00
R6271:Trav6-4	UTSW	14	53,692,039 (GRCm39)	missense	probably benign	0.06
R7097:Trav6-4	UTSW	14	53,692,049 (GRCm39)	missense	probably benign	0.04
R7760:Trav6-4	UTSW	14	53,692,103 (GRCm39)	missense	possibly damaging	0.87
R8353:Trav6-4	UTSW	14	53,691,946 (GRCm39)	missense	probably benign	0.01

Posted On

2014-05-07