Mutagenetix > Incidental Mutation

Incidental Mutation 'R4425:Trav12-2'

328126

Institutional Source

Beutler Lab

Gene Symbol

Trav12-2

Ensembl Gene

ENSMUSG00000096656

Gene Name

T cell receptor alpha variable 12-2

Synonyms

MMRRC Submission

041144-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R4425 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53853854-53854371 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53854332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Arginine at position 102 (Q102R)

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

possibly damaging
Transcript: ENSMUST00000180972
AA Change: Q102R

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137851
Gene: ENSMUSG00000096656
AA Change: Q102R

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

98% (55/56)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	T	C	11: 94,236,870 (GRCm39)	T1456A	probably damaging	Het
Acad11	T	C	9: 103,950,844 (GRCm39)	F56S	probably damaging	Het
Adamts8	A	G	9: 30,867,952 (GRCm39)	N592S	possibly damaging	Het
Amh	A	G	10: 80,642,755 (GRCm39)	D313G	probably damaging	Het
Ampd2	T	C	3: 107,994,052 (GRCm39)		probably benign	Het
Arap3	A	G	18: 38,111,653 (GRCm39)	L1115P	probably damaging	Het
Arfgap1	C	A	2: 180,622,869 (GRCm39)	D327E	probably benign	Het
Capns2	T	A	8: 93,628,252 (GRCm39)	I47N	possibly damaging	Het
Cd163	T	C	6: 124,304,862 (GRCm39)	S1080P	possibly damaging	Het
Ceacam10	A	T	7: 24,480,433 (GRCm39)	Y68F	possibly damaging	Het
Cep44	G	A	8: 56,991,652 (GRCm39)	P317S	probably benign	Het
Cfh	A	T	1: 140,028,613 (GRCm39)	Y688*	probably null	Het
Chrnb1	A	T	11: 69,677,773 (GRCm39)	S326R	probably damaging	Het
Cngb1	C	T	8: 96,026,344 (GRCm39)	V25M	probably damaging	Het
Cyp2c50	A	T	19: 40,079,136 (GRCm39)	N160Y	possibly damaging	Het
Dalrd3	T	C	9: 108,448,800 (GRCm39)		probably benign	Het
Eef1d	C	A	15: 75,774,648 (GRCm39)	S253I	possibly damaging	Het
Efl1	G	A	7: 82,412,491 (GRCm39)	C960Y	probably damaging	Het
Elmo1	C	G	13: 20,784,382 (GRCm39)	Y646*	probably null	Het
Epb41l2	C	A	10: 25,382,078 (GRCm39)	D701E	possibly damaging	Het
Fbxl4	T	A	4: 22,422,699 (GRCm39)		probably null	Het
Fhod1	T	C	8: 106,063,983 (GRCm39)		probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Igkv10-95	A	T	6: 68,657,606 (GRCm39)	I21F	probably damaging	Het
Il10rb	C	A	16: 91,204,603 (GRCm39)	N51K	possibly damaging	Het
Krt78	T	C	15: 101,856,375 (GRCm39)	T479A	probably benign	Het
Lrig3	T	C	10: 125,849,273 (GRCm39)	S998P	probably benign	Het
Lrrc8c	T	A	5: 105,755,755 (GRCm39)	M510K	probably benign	Het
Nfrkb	G	T	9: 31,311,258 (GRCm39)	C369F	probably damaging	Het
Nphp1	T	C	2: 127,630,719 (GRCm39)	E19G	possibly damaging	Het
Or10a5	A	C	7: 106,635,698 (GRCm39)	E112A	probably damaging	Het
Or4f14b	T	C	2: 111,775,534 (GRCm39)	H89R	probably benign	Het
Ovol3	A	T	7: 29,934,789 (GRCm39)		probably null	Het
Ppp1r16b	C	T	2: 158,599,174 (GRCm39)	T382I	probably benign	Het
Rims2	T	C	15: 39,301,320 (GRCm39)		probably null	Het
Sh3rf3	T	C	10: 58,919,398 (GRCm39)	V505A	probably benign	Het
Shkbp1	T	C	7: 27,042,727 (GRCm39)	N570S	probably benign	Het
Slc35f4	C	T	14: 49,556,307 (GRCm39)	V149I	possibly damaging	Het
Snx27	A	G	3: 94,469,330 (GRCm39)	F4L	probably benign	Het
Syvn1	C	T	19: 6,099,951 (GRCm39)		probably benign	Het
Tagap1	G	A	17: 7,223,511 (GRCm39)	S395L	probably benign	Het
Tcstv2b	C	A	13: 120,373,908 (GRCm39)	L127F	probably damaging	Het
Tek	A	G	4: 94,751,904 (GRCm39)	T1014A	probably damaging	Het
Top2a	A	G	11: 98,892,231 (GRCm39)	I1077T	probably benign	Het
Tpo	T	C	12: 30,154,015 (GRCm39)	Y230C	probably damaging	Het
Ttn	G	A	2: 76,733,430 (GRCm39)		probably benign	Het
Vmn1r183	A	T	7: 23,754,973 (GRCm39)	I259F	probably benign	Het
Vmn1r228	T	C	17: 20,996,861 (GRCm39)	E219G	probably damaging	Het
Vsig8	G	T	1: 172,390,714 (GRCm39)	G254V	probably damaging	Het
Vwa8	A	G	14: 79,320,246 (GRCm39)	I1086V	probably benign	Het
Zfp423	G	A	8: 88,509,601 (GRCm39)	H123Y	probably damaging	Het
Zfp811	A	T	17: 33,016,521 (GRCm39)	C506*	probably null	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
IGL03165:Trav12-2	APN	14	53,854,206 (GRCm39)	missense	probably benign	0.01
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

Predicted Primers

PCR Primer
(F):5'- TCTGTGACCCAGACAGAAGG -3'
(R):5'- TTTGTAGGTGTCTGATCTCACAC -3'

Sequencing Primer
(F):5'- GTGATGCTGAACTGCACCTATCAG -3'
(R):5'- CACTTGTTCATGTTTTTCAGGAAGC -3'

Posted On

2015-07-07