Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02488:Trav6-2'

295499

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav6-2

Ensembl Gene

ENSMUSG00000076764

Gene Name

T cell receptor alpha variable 6-2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

IGL02488

Quality Score

Status

Chromosome

Chromosomal Location

52904868-52905321 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 52905243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 88 (K88R)

Ref Sequence

ENSEMBL: ENSMUSP00000142452 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103573] [ENSMUST00000198058]

AlphaFold

Q5R1I4

Predicted Effect

probably benign
Transcript: ENSMUST00000103573
AA Change: K87R

PolyPhen 2 Score 0.205 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100350
Gene: ENSMUSG00000076764
AA Change: K87R

Domain	Start	End	E-Value	Type
Pfam:V-set	20	112	1.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000198058
AA Change: K88R

PolyPhen 2 Score 0.232 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000142452
Gene: ENSMUSG00000076764
AA Change: K88R

Domain	Start	End	E-Value	Type
Pfam:V-set	21	113	1.7e-13	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	C	T	8: 25,282,022 (GRCm39)	D417N	probably damaging	Het
Akr1d1	A	T	6: 37,544,095 (GRCm39)	E324D	probably benign	Het
Ankrd34a	A	G	3: 96,506,229 (GRCm39)	I478V	probably benign	Het
C8b	A	G	4: 104,661,278 (GRCm39)	H498R	probably benign	Het
Cct6a	T	G	5: 129,866,885 (GRCm39)		probably benign	Het
Enpp7	C	A	11: 118,879,640 (GRCm39)	T98N	probably damaging	Het
Fcna	A	T	2: 25,515,223 (GRCm39)		probably null	Het
Gtdc1	A	G	2: 44,715,451 (GRCm39)	Y31H	probably benign	Het
Gzme	A	T	14: 56,355,849 (GRCm39)	N154K	probably benign	Het
Hectd4	T	C	5: 121,430,150 (GRCm39)	V849A	probably benign	Het
Hps1	C	T	19: 42,746,227 (GRCm39)		probably benign	Het
Incenp	A	T	19: 9,870,771 (GRCm39)	I286N	unknown	Het
Matn1	G	T	4: 130,671,804 (GRCm39)	V24F	probably benign	Het
Mcm3ap	A	G	10: 76,335,483 (GRCm39)	T1302A	probably damaging	Het
Megf10	A	G	18: 57,425,704 (GRCm39)	Y1030C	probably damaging	Het
Mpdu1	T	C	11: 69,549,435 (GRCm39)	T87A	probably damaging	Het
Or1j18	T	A	2: 36,624,362 (GRCm39)	S10T	probably benign	Het
Or52h1	T	A	7: 103,829,478 (GRCm39)	I46F	possibly damaging	Het
Pde6h	A	G	6: 136,940,264 (GRCm39)		probably null	Het
Pkhd1l1	A	G	15: 44,421,993 (GRCm39)	I3088V	probably benign	Het
Plec	G	T	15: 76,063,359 (GRCm39)	T2259K	possibly damaging	Het
Ptch2	C	T	4: 116,967,593 (GRCm39)	R754C	probably damaging	Het
Ptpn12	T	C	5: 21,227,060 (GRCm39)	T81A	possibly damaging	Het
Sars2	C	T	7: 28,441,585 (GRCm39)	R49*	probably null	Het
Scyl1	G	T	19: 5,820,341 (GRCm39)	Y164*	probably null	Het
Smarcd1	T	C	15: 99,609,082 (GRCm39)	C419R	possibly damaging	Het
Syne2	C	A	12: 76,012,512 (GRCm39)	R2568S	probably benign	Het
Tap2	A	G	17: 34,433,616 (GRCm39)		probably benign	Het
Thrb	T	A	14: 18,033,455 (GRCm38)	I406K	probably damaging	Het
Tnn	T	A	1: 159,968,163 (GRCm39)	I410F	probably benign	Het
Tns2	T	C	15: 102,021,178 (GRCm39)	S940P	probably benign	Het
Ttbk2	T	C	2: 120,586,352 (GRCm39)	M386V	probably benign	Het
Vldlr	A	G	19: 27,215,675 (GRCm39)	E224G	probably damaging	Het
Vmn1r46	T	A	6: 89,953,963 (GRCm39)	C271S	probably benign	Het
Zfhx2	T	C	14: 55,302,560 (GRCm39)	E1808G	possibly damaging	Het
Zfp385a	A	G	15: 103,228,733 (GRCm39)	I42T	probably damaging	Het

Other mutations in Trav6-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01099:Trav6-2	APN	14	52,905,122 (GRCm39)	missense	probably benign	0.05
IGL02207:Trav6-2	APN	14	52,904,889 (GRCm39)	missense	possibly damaging	0.63
R4095:Trav6-2	UTSW	14	52,905,272 (GRCm39)	missense	probably benign	0.03
R5268:Trav6-2	UTSW	14	52,905,205 (GRCm39)	missense	probably benign	0.00
R7095:Trav6-2	UTSW	14	52,905,291 (GRCm39)	missense	probably damaging	1.00
R7643:Trav6-2	UTSW	14	52,904,899 (GRCm39)	missense	probably benign	0.17
R8093:Trav6-2	UTSW	14	52,905,126 (GRCm39)	missense	probably benign	0.07
R8500:Trav6-2	UTSW	14	52,905,092 (GRCm39)	missense	probably benign	0.03
R8725:Trav6-2	UTSW	14	52,905,028 (GRCm39)	critical splice acceptor site	probably benign
R8727:Trav6-2	UTSW	14	52,905,028 (GRCm39)	critical splice acceptor site	probably benign
R9134:Trav6-2	UTSW	14	52,905,109 (GRCm39)	nonsense	probably null

Posted On

2015-04-16