Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03165:Trav12-2'

411581

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav12-2

Ensembl Gene

ENSMUSG00000096656

Gene Name

T cell receptor alpha variable 12-2

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL03165

Quality Score

Status

Chromosome

Chromosomal Location

53853854-53854371 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53854206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 60 (H60L)

Ref Sequence

ENSEMBL: ENSMUSP00000137851 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103657] [ENSMUST00000180972]

AlphaFold

A0N8N6

Predicted Effect

probably benign
Transcript: ENSMUST00000103657

SMART Domains

Protein: ENSMUSP00000100434
Gene: ENSMUSG00000095958

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
Pfam:V-set	22	115	1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000180972
AA Change: H60L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000137851
Gene: ENSMUSG00000096656
AA Change: H60L

Domain	Start	End	E-Value	Type
low complexity region	10	21	N/A	INTRINSIC
Pfam:V-set	22	114	1.5e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199855

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
Adgrb3	T	C	1: 25,133,475 (GRCm39)	I334V	probably benign	Het
Axdnd1	T	A	1: 156,205,959 (GRCm39)	Y519F	probably benign	Het
C4b	A	G	17: 34,958,929 (GRCm39)	F500S	probably benign	Het
Cacng2	A	T	15: 77,879,863 (GRCm39)	I153N	possibly damaging	Het
Ces1d	T	A	8: 93,916,147 (GRCm39)	H160L	probably benign	Het
Cnnm3	T	G	1: 36,564,313 (GRCm39)		probably benign	Het
Ctnna3	A	G	10: 64,781,720 (GRCm39)	T728A	probably damaging	Het
Cyp2g1	G	A	7: 26,509,201 (GRCm39)	V92M	possibly damaging	Het
Dock2	C	A	11: 34,578,360 (GRCm39)	V35F	probably damaging	Het
Eif2a	C	A	3: 58,456,049 (GRCm39)	Y349*	probably null	Het
Erp44	C	T	4: 48,236,872 (GRCm39)		probably null	Het
Flg2	C	T	3: 93,121,918 (GRCm39)	H1363Y	unknown	Het
Flnc	G	T	6: 29,449,377 (GRCm39)	G1425W	probably damaging	Het
Frem3	A	G	8: 81,339,158 (GRCm39)	N484D	probably benign	Het
Fstl3	A	G	10: 79,615,799 (GRCm39)	D95G	probably benign	Het
Gldc	A	G	19: 30,076,393 (GRCm39)	S1018P	possibly damaging	Het
Gstk1	T	G	6: 42,226,368 (GRCm39)	I159S	probably benign	Het
Herc2	A	G	7: 55,841,660 (GRCm39)	E3513G	probably damaging	Het
Hpca	A	T	4: 129,012,383 (GRCm39)	I51N	probably damaging	Het
Hsd17b7	C	T	1: 169,780,649 (GRCm39)	E320K	probably damaging	Het
Igkv4-74	T	C	6: 69,162,289 (GRCm39)		probably benign	Het
Kdm7a	C	A	6: 39,147,848 (GRCm39)		probably benign	Het
Or1e23	A	T	11: 73,407,710 (GRCm39)	L105*	probably null	Het
Or52z14	T	C	7: 103,253,218 (GRCm39)	I119T	probably damaging	Het
Or5al6	A	C	2: 85,976,412 (GRCm39)	L222R	possibly damaging	Het
Pa2g4	A	T	10: 128,394,929 (GRCm39)		probably null	Het
Pdlim3	T	A	8: 46,372,035 (GRCm39)	L360Q	possibly damaging	Het
Pkd1l2	G	A	8: 117,792,484 (GRCm39)	T436I	probably benign	Het
Polk	T	A	13: 96,653,196 (GRCm39)	Q68L	probably benign	Het
Ppfia2	T	G	10: 106,603,348 (GRCm39)	L195R	probably damaging	Het
Ranbp1	A	T	16: 18,065,145 (GRCm39)		probably benign	Het
Rbm12b1	A	G	4: 12,145,845 (GRCm39)	R606G	possibly damaging	Het
Ryr1	A	G	7: 28,804,465 (GRCm39)	V488A	probably benign	Het
Sall2	A	T	14: 52,551,625 (GRCm39)	D521E	probably damaging	Het
Sntg1	A	T	1: 8,515,328 (GRCm39)	C402S	probably damaging	Het
Spg7	T	C	8: 123,807,551 (GRCm39)		probably null	Het
Stk31	G	A	6: 49,422,198 (GRCm39)	E750K	probably damaging	Het
Tlr2	A	G	3: 83,745,255 (GRCm39)	I276T	probably benign	Het
Urb1	A	G	16: 90,577,192 (GRCm39)	L775S	probably damaging	Het
Utp14b	A	G	1: 78,642,237 (GRCm39)	D45G	probably damaging	Het

Other mutations in Trav12-2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02126:Trav12-2	APN	14	53,853,859 (GRCm39)	missense	probably damaging	1.00
R4425:Trav12-2	UTSW	14	53,854,332 (GRCm39)	missense	possibly damaging	0.63
R4858:Trav12-2	UTSW	14	53,854,150 (GRCm39)	missense	probably benign
R5320:Trav12-2	UTSW	14	53,854,356 (GRCm39)	missense	probably benign	0.29
R5685:Trav12-2	UTSW	14	53,854,122 (GRCm39)	missense	probably damaging	1.00
R7813:Trav12-2	UTSW	14	53,854,223 (GRCm39)	nonsense	probably null
R8321:Trav12-2	UTSW	14	53,853,840 (GRCm39)	start gained	probably benign
R9138:Trav12-2	UTSW	14	53,854,178 (GRCm39)	missense	probably benign	0.01
R9526:Trav12-2	UTSW	14	53,854,085 (GRCm39)	missense	probably benign	0.00

Posted On

2016-08-02