Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02613:Trav12-1'

300541

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav12-1

Ensembl Gene

ENSMUSG00000096825

Gene Name

T cell receptor alpha variable 12-1

Synonyms

Gm17011

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL02613

Quality Score

Status

Chromosome

Chromosomal Location

53775723-53776195 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 53775742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 9 (S9L)

Ref Sequence

ENSEMBL: ENSMUSP00000143545 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103650] [ENSMUST00000200115]

AlphaFold

A0N8R1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103650
AA Change: S9L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000100427
Gene: ENSMUSG00000096825
AA Change: S9L

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
Pfam:V-set	21	114	3.8e-15	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000200115
AA Change: S9L

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000143545
Gene: ENSMUSG00000096825
AA Change: S9L

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
Pfam:V-set	27	115	5.8e-15	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy8	T	G	15: 64,655,833 (GRCm39)	I549L	possibly damaging	Het
Arhgef17	A	T	7: 100,578,103 (GRCm39)	H948Q	probably damaging	Het
Auh	A	G	13: 53,073,035 (GRCm39)		probably null	Het
Btf3	A	G	13: 98,446,714 (GRCm39)		probably benign	Het
Capg	A	G	6: 72,532,594 (GRCm39)	N53S	probably damaging	Het
Cfap70	T	C	14: 20,459,132 (GRCm39)		probably null	Het
Chrna5	A	T	9: 54,913,705 (GRCm39)	E417V	probably damaging	Het
Coch	A	G	12: 51,642,132 (GRCm39)	T35A	possibly damaging	Het
Dock4	T	A	12: 40,860,465 (GRCm39)	L1284M	probably damaging	Het
Etv3	A	G	3: 87,443,702 (GRCm39)	T429A	possibly damaging	Het
Fmnl2	T	C	2: 52,963,747 (GRCm39)		probably null	Het
Glb1	A	G	9: 114,293,130 (GRCm39)	T502A	possibly damaging	Het
Greb1	C	A	12: 16,789,889 (GRCm39)		probably null	Het
Hspg2	A	G	4: 137,271,731 (GRCm39)	Y2499C	probably damaging	Het
Kcnq1	A	T	7: 142,979,863 (GRCm39)		probably benign	Het
Lrriq1	A	G	10: 102,980,409 (GRCm39)	S1497P	probably damaging	Het
Magel2	G	A	7: 62,029,946 (GRCm39)	R950H	unknown	Het
Mcc	A	G	18: 44,563,021 (GRCm39)	L982P	probably damaging	Het
Naif1	T	A	2: 32,345,172 (GRCm39)	M292K	possibly damaging	Het
Npb	T	A	11: 120,499,716 (GRCm39)	C99S	probably damaging	Het
Obscn	G	T	11: 58,892,958 (GRCm39)	R6763S	probably benign	Het
Or13a21	A	G	7: 139,999,383 (GRCm39)	V101A	probably benign	Het
Or5p56	C	T	7: 107,590,381 (GRCm39)	Q270*	probably null	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pitpnm3	A	T	11: 71,948,898 (GRCm39)	S736T	probably damaging	Het
Polr1a	A	T	6: 71,944,304 (GRCm39)	E1257V	probably damaging	Het
Sec63	G	A	10: 42,677,703 (GRCm39)	D270N	probably damaging	Het
Snrnp200	C	T	2: 127,060,346 (GRCm39)	T530I	probably damaging	Het
Sorbs1	A	T	19: 40,315,991 (GRCm39)	N383K	probably damaging	Het
Syk	G	A	13: 52,797,076 (GRCm39)	G546R	probably damaging	Het
Tfap2d	T	A	1: 19,189,415 (GRCm39)	L265Q	probably damaging	Het
Trerf1	T	C	17: 47,659,766 (GRCm39)		noncoding transcript	Het
Ttn	T	A	2: 76,558,704 (GRCm39)	I29726L	possibly damaging	Het
Usp18	A	G	6: 121,238,049 (GRCm39)	T143A	probably benign	Het
Usp32	A	T	11: 84,930,896 (GRCm39)	N511K	probably damaging	Het
Wdr64	C	T	1: 175,594,613 (GRCm39)	Q4*	probably null	Het
Zfp277	A	G	12: 40,379,514 (GRCm39)	F340S	probably damaging	Het

Other mutations in Trav12-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02537:Trav12-1	APN	14	53,775,980 (GRCm39)	nonsense	probably null
IGL02821:Trav12-1	APN	14	53,775,916 (GRCm39)	missense	probably damaging	1.00
IGL02940:Trav12-1	APN	14	53,776,017 (GRCm39)	missense	probably damaging	1.00
IGL02950:Trav12-1	APN	14	53,776,024 (GRCm39)	missense	probably damaging	1.00
Variegated	UTSW	14	53,775,988 (GRCm39)	missense	possibly damaging	0.90
R5469:Trav12-1	UTSW	14	53,775,930 (GRCm39)	missense	probably damaging	0.97
R7384:Trav12-1	UTSW	14	53,775,993 (GRCm39)	missense	probably benign	0.01
R7804:Trav12-1	UTSW	14	53,775,988 (GRCm39)	missense	possibly damaging	0.90

Posted On

2015-04-16