Mutagenetix > Incidental Mutation

Incidental Mutation 'R8001:Trav16d-dv11'

616370

Institutional Source

Beutler Lab

Gene Symbol

Trav16d-dv11

Ensembl Gene

ENSMUSG00000076796

Gene Name

T cell receptor alpha variable 16D-DV11

Synonyms

ENSMUSG00000072535

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53047287-53047821 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 53047287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000100383 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000103605] [ENSMUST00000103606] [ENSMUST00000198439]

AlphaFold

A0A075B617

Predicted Effect

probably benign
Transcript: ENSMUST00000103605

SMART Domains

Protein: ENSMUSP00000100382
Gene: ENSMUSG00000076795

Domain	Start	End	E-Value	Type
IGv	37	110	1.15e-12	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000103606
AA Change: M1V

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100383
Gene: ENSMUSG00000076796
AA Change: M1V

Domain	Start	End	E-Value	Type
IG	29	118	3.36e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000198439

SMART Domains

Protein: ENSMUSP00000142447
Gene: ENSMUSG00000076795

Domain	Start	End	E-Value	Type
IGv	38	111	1.15e-12	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310007B03Rik	A	G	1: 93,154,599	L266P	probably damaging	Het
Acr	A	G	15: 89,573,962	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,140,269	R136G	probably damaging	Het
Bptf	C	A	11: 107,047,340	E2*	probably null	Het
Cse1l	T	A	2: 166,939,913	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,840,360	L144Q	probably damaging	Het
Elmo1	A	G	13: 20,286,732	I265V	probably benign	Het
Erich3	T	C	3: 154,713,916	S19P	probably benign	Het
Hmcn1	A	T	1: 150,664,878	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,038,723	Q370*	probably null	Het
Itpkb	T	C	1: 180,332,494	S62P	probably damaging	Het
Lig3	T	A	11: 82,792,076	C501S	probably benign	Het
Nrxn1	C	T	17: 91,088,536	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,114,883	C319G	probably damaging	Het
Olfr1474	A	G	19: 13,471,422	I109V	probably benign	Het
Olfr201	T	C	16: 59,269,109	N186S	probably benign	Het
Olfr555	A	T	7: 102,659,034	D71V	probably damaging	Het
Olfr827	A	G	10: 130,210,860	V90A	probably benign	Het
Pabpc6	C	A	17: 9,669,373	R83L	probably damaging	Het
Pcdhgb2	A	T	18: 37,690,634	Q226L	probably benign	Het
Pole	A	T	5: 110,312,734	I1127F	probably damaging	Het
Psg22	A	T	7: 18,719,746	Q161L	possibly damaging	Het
Slc17a7	A	T	7: 45,168,788	T46S	probably benign	Het
Smad4	A	G	18: 73,641,810	S473P	probably damaging	Het
Snap47	T	A	11: 59,438,354	T41S	probably benign	Het
Snx21	T	C	2: 164,786,737	L100P	probably benign	Het
Stc1	T	A	14: 69,038,395	N212K	probably benign	Het
Stk32a	A	T	18: 43,315,144	N396I	possibly damaging	Het
Stox2	G	A	8: 47,186,477	P894L	probably benign	Het
Trim33	T	C	3: 103,311,515		probably null	Het
Tyrp1	T	C	4: 80,840,670	V260A	probably benign	Het
Ush2a	T	C	1: 188,911,064	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,979,080	K75*	probably null	Het
Vmn2r117	T	A	17: 23,479,407	N64I	possibly damaging	Het
Wdfy4	C	T	14: 32,973,535		probably null	Het
Wnt8a	A	T	18: 34,545,516	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,779,260	Y484*	probably null	Het
Zfp619	A	G	7: 39,535,221	K225R	probably benign	Het

Other mutations in Trav16d-dv11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Trav16d-dv11	APN	14	53047584	missense	possibly damaging	0.92
R1549:Trav16d-dv11	UTSW	14	53047342	unclassified	probably benign
R4469:Trav16d-dv11	UTSW	14	53047578	missense	probably benign	0.00
R8154:Trav16d-dv11	UTSW	14	53047542	missense	probably damaging	1.00
R8523:Trav16d-dv11	UTSW	14	53047665	missense	probably benign	0.01
R9289:Trav16d-dv11	UTSW	14	53047629	missense	probably benign	0.00
R9666:Trav16d-dv11	UTSW	14	53047580	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GACAGGGCACAATTAAGTCTGC -3'
(R):5'- GTTGCTGATGGAAGAAGCAC -3'

Sequencing Primer
(F):5'- GCACAATTAAGTCTGCCCCTTAACTG -3'
(R):5'- CTAAAGGATAGAGTAGCTTATGAGCC -3'

Posted On

2020-01-23