Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02839:Trav14d-3-dv8'

361790

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav14d-3-dv8

Ensembl Gene

ENSMUSG00000094619

Gene Name

T cell receptor alpha variable 14D-3-DV8

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

IGL02839

Quality Score

Status

Chromosome

Chromosomal Location

53316004-53316502 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 53316247 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 36 (Q36K)

Ref Sequence

ENSEMBL: ENSMUSP00000100385 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103608]

AlphaFold

A0A075B619

Predicted Effect

possibly damaging
Transcript: ENSMUST00000103608
AA Change: Q36K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100385
Gene: ENSMUSG00000094619
AA Change: Q36K

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
low complexity region	22	33	N/A	INTRINSIC
IGv	45	119	3.4e-15	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198604

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A3galt2	T	C	4: 128,653,816 (GRCm39)		probably null	Het
Aldh1l1	T	C	6: 90,546,857 (GRCm39)	F387L	possibly damaging	Het
Aldh5a1	A	G	13: 25,095,603 (GRCm39)	S505P	probably damaging	Het
Aox1	A	G	1: 58,107,943 (GRCm39)	T642A	probably benign	Het
Atg16l2	T	C	7: 100,942,604 (GRCm39)	I364V	probably damaging	Het
Atp2c2	T	C	8: 120,475,859 (GRCm39)	V584A	possibly damaging	Het
Axl	A	T	7: 25,466,216 (GRCm39)		probably null	Het
Camta1	T	C	4: 151,228,969 (GRCm39)	Q621R	probably damaging	Het
Cdca4	A	T	12: 112,785,511 (GRCm39)	D72E	probably damaging	Het
Col1a2	T	A	6: 4,538,748 (GRCm39)	Y1223N	unknown	Het
Drc1	T	C	5: 30,507,767 (GRCm39)	M263T	probably benign	Het
Eef1akmt1	A	T	14: 57,787,238 (GRCm39)	Y213N	probably damaging	Het
Fat3	C	A	9: 15,830,466 (GRCm39)	D4343Y	probably damaging	Het
Ftdc1	A	G	16: 58,436,210 (GRCm39)	Y38H	probably damaging	Het
Gucy2d	T	C	7: 98,093,196 (GRCm39)	V191A	possibly damaging	Het
Hdac5	A	G	11: 102,095,734 (GRCm39)	L355P	probably damaging	Het
Hdgfl3	C	T	7: 81,550,160 (GRCm39)	G58D	probably damaging	Het
Hnrnpul1	A	G	7: 25,432,667 (GRCm39)		probably null	Het
Klf12	A	T	14: 100,137,675 (GRCm39)	C290*	probably null	Het
Mtmr3	A	T	11: 4,437,994 (GRCm39)	I820N	probably benign	Het
Myo7a	A	T	7: 97,740,329 (GRCm39)	L555Q	probably damaging	Het
Nrsn1	A	G	13: 25,437,527 (GRCm39)	C134R	probably damaging	Het
Or13c7d	T	A	4: 43,770,943 (GRCm39)	K23*	probably null	Het
Or1p1	T	A	11: 74,180,196 (GRCm39)	C241*	probably null	Het
Or4c11c	G	A	2: 88,661,992 (GRCm39)	C177Y	probably damaging	Het
Or56a3b	A	C	7: 104,771,563 (GRCm39)	T300P	probably damaging	Het
Or5ac24	A	T	16: 59,165,753 (GRCm39)	C104S	probably benign	Het
Or5t9	T	A	2: 86,659,712 (GRCm39)	N205K	probably benign	Het
Pik3r6	A	G	11: 68,417,238 (GRCm39)	E60G	probably damaging	Het
Pkhd1l1	T	A	15: 44,392,939 (GRCm39)	I1758N	probably damaging	Het
Poc1b	A	G	10: 98,980,460 (GRCm39)		probably benign	Het
Rnf103	G	T	6: 71,486,689 (GRCm39)	R440L	probably benign	Het
Siglec1	A	G	2: 130,926,852 (GRCm39)	V237A	possibly damaging	Het
Skic2	T	C	17: 35,066,774 (GRCm39)	T165A	probably benign	Het
Slit3	A	G	11: 35,539,874 (GRCm39)	N762S	possibly damaging	Het
Trank1	A	G	9: 111,193,824 (GRCm39)	N616S	probably damaging	Het
Ttll6	T	C	11: 96,049,646 (GRCm39)	V788A	probably damaging	Het
Ube4b	A	T	4: 149,452,856 (GRCm39)	S357T	probably damaging	Het
Unc80	A	G	1: 66,710,834 (GRCm39)	H2701R	possibly damaging	Het
Wdfy3	A	G	5: 102,116,786 (GRCm39)	S85P	probably damaging	Het

Other mutations in Trav14d-3-dv8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R7278:Trav14d-3-dv8	UTSW	14	53,316,218 (GRCm39)	missense	probably benign
R7389:Trav14d-3-dv8	UTSW	14	53,316,328 (GRCm39)	missense	possibly damaging	0.90
R7961:Trav14d-3-dv8	UTSW	14	53,316,224 (GRCm39)	missense	probably damaging	0.99
R8009:Trav14d-3-dv8	UTSW	14	53,316,224 (GRCm39)	missense	probably damaging	0.99
R8487:Trav14d-3-dv8	UTSW	14	53,316,192 (GRCm39)	critical splice acceptor site	probably benign

Posted On

2015-12-18