Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00557:Trav9-1'

332603

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav9-1

Ensembl Gene

ENSMUSG00000096900

Gene Name

T cell receptor alpha variable 9-1

Synonyms

Gm13947

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL00557

Quality Score

Status

Chromosome

Chromosomal Location

53725563-53726024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53725815 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 43 (Y43F)

Ref Sequence

ENSEMBL: ENSMUSP00000100358 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103581] [ENSMUST00000181210] [ENSMUST00000183488]

AlphaFold

A0A075B601

Predicted Effect

probably damaging
Transcript: ENSMUST00000103581
AA Change: Y43F

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100358
Gene: ENSMUSG00000096900
AA Change: Y43F

Domain	Start	End	E-Value	Type
IGv	36	111	1.61e-7	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000181210

SMART Domains

Protein: ENSMUSP00000137814
Gene: ENSMUSG00000096149

Domain	Start	End	E-Value	Type
IG	27	112	4.04e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183488

SMART Domains

Protein: ENSMUSP00000139176
Gene: ENSMUSG00000096149

Domain	Start	End	E-Value	Type
IG	26	111	4.04e0	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agpat3	A	T	10: 78,109,516 (GRCm39)		probably benign	Het
Arhgap35	T	C	7: 16,298,340 (GRCm39)	T242A	probably benign	Het
Asb15	C	A	6: 24,558,649 (GRCm39)	R55S	probably benign	Het
Brca2	C	T	5: 150,484,003 (GRCm39)	R2941W	probably benign	Het
Chrng	T	C	1: 87,134,469 (GRCm39)	V135A	probably damaging	Het
Corin	G	T	5: 72,462,231 (GRCm39)	H859Q	probably damaging	Het
Cul7	A	G	17: 46,963,434 (GRCm39)	E208G	probably damaging	Het
Dnah6	T	C	6: 73,172,603 (GRCm39)	N285S	possibly damaging	Het
Ell2	T	A	13: 75,904,409 (GRCm39)	I166N	probably damaging	Het
Fsip2	A	G	2: 82,821,657 (GRCm39)	R5797G	possibly damaging	Het
Galntl6	T	C	8: 59,364,451 (GRCm39)	I20V	possibly damaging	Het
Glra2	A	G	X: 164,072,633 (GRCm39)	F78L	possibly damaging	Het
Gm12258	A	G	11: 58,746,896 (GRCm39)	D51G	probably benign	Het
Gsta2	T	A	9: 78,238,525 (GRCm39)	K185*	probably null	Het
Hmgcr	C	T	13: 96,795,786 (GRCm39)	D294N	probably benign	Het
Iglv2	A	G	16: 19,079,547 (GRCm39)		probably benign	Het
Myo10	T	A	15: 25,776,466 (GRCm39)	L63H	probably damaging	Het
P2ry10b	T	C	X: 106,215,243 (GRCm39)	V201A	probably benign	Het
Psmb2	A	G	4: 126,571,642 (GRCm39)		probably null	Het
Samd4	T	A	14: 47,290,355 (GRCm39)	L154H	probably damaging	Het
Sult2a4	A	T	7: 13,718,870 (GRCm39)	D124E	probably damaging	Het
Trpv2	A	G	11: 62,483,681 (GRCm39)	N506S	probably damaging	Het
Ube3c	T	C	5: 29,824,227 (GRCm39)	S474P	probably damaging	Het
Wdr87-ps	A	G	7: 29,235,227 (GRCm39)		noncoding transcript	Het
Zfp942	A	T	17: 22,148,042 (GRCm39)	C196S	probably benign	Het

Other mutations in Trav9-1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00230:Trav9-1	APN	14	53,725,850 (GRCm39)	missense	probably benign	0.09
R5383:Trav9-1	UTSW	14	53,725,833 (GRCm39)	missense	probably benign	0.00
R7569:Trav9-1	UTSW	14	53,725,581 (GRCm39)	missense	probably benign	0.00
R8947:Trav9-1	UTSW	14	53,725,584 (GRCm39)	missense	probably benign
Z1176:Trav9-1	UTSW	14	53,725,931 (GRCm39)	missense	probably benign	0.14

Posted On

2015-08-05