Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01748:Trav13n-4'

153060

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav13n-4

Ensembl Gene

ENSMUSG00000076823

Gene Name

T cell receptor alpha variable 13N-4

Synonyms

Gm10907, ENSMUSG00000072517

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL01748

Quality Score

Status

Chromosome

Chromosomal Location

53599825-53601563 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53601470 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 80 (T80S)

Ref Sequence

ENSEMBL: ENSMUSP00000143372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103634] [ENSMUST00000196105]

AlphaFold

A0A075B635

Predicted Effect

probably benign
Transcript: ENSMUST00000103634
AA Change: T60S

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000100411
Gene: ENSMUSG00000076823
AA Change: T60S

Domain	Start	End	E-Value	Type
IGv	18	89	2.89e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000196105
AA Change: T80S

PolyPhen 2 Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000143372
Gene: ENSMUSG00000076823
AA Change: T80S

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IGv	38	109	1.2e-11	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb1	T	C	15: 74,420,206 (GRCm39)		probably benign	Het
Asb1	G	A	1: 91,480,008 (GRCm39)	V236I	probably damaging	Het
Bod1l	G	A	5: 41,974,304 (GRCm39)	R2337C	probably benign	Het
Fermt3	A	T	19: 6,980,834 (GRCm39)		probably null	Het
Foxred2	T	C	15: 77,836,546 (GRCm39)	D323G	probably damaging	Het
Fry	A	G	5: 150,269,116 (GRCm39)		probably benign	Het
Galnt11	T	A	5: 25,452,513 (GRCm39)	Y8*	probably null	Het
Gm42688	T	A	6: 83,080,001 (GRCm39)	S275T	possibly damaging	Het
Grip2	C	T	6: 91,741,724 (GRCm39)	G934R	probably damaging	Het
Igkv1-122	G	T	6: 67,994,456 (GRCm39)	V115F	possibly damaging	Het
Iglon5	C	T	7: 43,125,953 (GRCm39)		probably benign	Het
Nbl1	G	T	4: 138,810,921 (GRCm39)		probably benign	Het
Nup107	A	G	10: 117,593,179 (GRCm39)	V833A	probably benign	Het
Or4k41	T	C	2: 111,279,875 (GRCm39)	L130P	probably damaging	Het
Psg18	T	C	7: 18,087,476 (GRCm39)	N61D	probably benign	Het
Rfng	A	G	11: 120,674,569 (GRCm39)	M104T	probably benign	Het
Scn10a	A	G	9: 119,456,150 (GRCm39)	F1224S	probably damaging	Het
Strn4	C	T	7: 16,572,227 (GRCm39)	P647S	probably damaging	Het
Tbc1d2	A	G	4: 46,616,306 (GRCm39)	V474A	probably damaging	Het
Trrap	A	G	5: 144,770,150 (GRCm39)	E2757G	probably damaging	Het
Vmn1r43	G	T	6: 89,847,294 (GRCm39)	T64N	probably damaging	Het
Vmn2r108	A	T	17: 20,683,476 (GRCm39)	I576N	probably benign	Het
Vmn2r65	A	T	7: 84,589,507 (GRCm39)	I803N	probably damaging	Het
Zfp341	T	C	2: 154,470,847 (GRCm39)	V288A	probably damaging	Het

Other mutations in Trav13n-4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Trav13n-4	APN	14	53,601,288 (GRCm39)	missense	probably benign	0.03
IGL00562:Trav13n-4	APN	14	53,601,423 (GRCm39)	missense	possibly damaging	0.94
IGL00563:Trav13n-4	APN	14	53,601,423 (GRCm39)	missense	possibly damaging	0.94
IGL01620:Trav13n-4	APN	14	53,601,473 (GRCm39)	missense	probably damaging	0.99
IGL02327:Trav13n-4	APN	14	53,601,567 (GRCm39)	unclassified	probably benign
R4197:Trav13n-4	UTSW	14	53,601,378 (GRCm39)	missense	probably benign
R5467:Trav13n-4	UTSW	14	53,601,303 (GRCm39)	missense	probably damaging	1.00
R6765:Trav13n-4	UTSW	14	53,601,557 (GRCm39)	missense	probably benign
R6845:Trav13n-4	UTSW	14	53,599,856 (GRCm39)	missense	probably damaging	1.00
R7339:Trav13n-4	UTSW	14	53,601,435 (GRCm39)	missense	probably benign	0.02
R8744:Trav13n-4	UTSW	14	53,601,399 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-02-04