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

046041-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R8001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

53284744-53285278 bp(+) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

A to G at 53284744 bp (GRCm39)

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
Acr	A	G	15: 89,458,165 (GRCm39)	Y282C	probably damaging	Het
Alkbh4	A	G	5: 136,169,123 (GRCm39)	R136G	probably damaging	Het
Bptf	C	A	11: 106,938,166 (GRCm39)	E2*	probably null	Het
Cse1l	T	A	2: 166,781,833 (GRCm39)	F659Y	probably damaging	Het
Ctrc	A	T	4: 141,567,671 (GRCm39)	L144Q	probably damaging	Het
Elmo1	A	G	13: 20,470,902 (GRCm39)	I265V	probably benign	Het
Erich3	T	C	3: 154,419,553 (GRCm39)	S19P	probably benign	Het
Hmcn1	A	T	1: 150,540,629 (GRCm39)	C2893*	probably null	Het
Hnrnpll	G	A	17: 80,346,152 (GRCm39)	Q370*	probably null	Het
Itpkb	T	C	1: 180,160,059 (GRCm39)	S62P	probably damaging	Het
Lig3	T	A	11: 82,682,902 (GRCm39)	C501S	probably benign	Het
Mab21l4	A	G	1: 93,082,321 (GRCm39)	L266P	probably damaging	Het
Nrxn1	C	T	17: 91,395,964 (GRCm39)	R64H	possibly damaging	Het
Ogfod2	T	G	5: 124,252,946 (GRCm39)	C319G	probably damaging	Het
Or51h1	A	T	7: 102,308,241 (GRCm39)	D71V	probably damaging	Het
Or5ac19	T	C	16: 59,089,472 (GRCm39)	N186S	probably benign	Het
Or5b118	A	G	19: 13,448,786 (GRCm39)	I109V	probably benign	Het
Or9k7	A	G	10: 130,046,729 (GRCm39)	V90A	probably benign	Het
Pabpc6	C	A	17: 9,888,302 (GRCm39)	R83L	probably damaging	Het
Pcdhgb2	A	T	18: 37,823,687 (GRCm39)	Q226L	probably benign	Het
Pole	A	T	5: 110,460,600 (GRCm39)	I1127F	probably damaging	Het
Psg22	A	T	7: 18,453,671 (GRCm39)	Q161L	possibly damaging	Het
Slc17a7	A	T	7: 44,818,212 (GRCm39)	T46S	probably benign	Het
Smad4	A	G	18: 73,774,881 (GRCm39)	S473P	probably damaging	Het
Snap47	T	A	11: 59,329,180 (GRCm39)	T41S	probably benign	Het
Snx21	T	C	2: 164,628,657 (GRCm39)	L100P	probably benign	Het
Stc1	T	A	14: 69,275,844 (GRCm39)	N212K	probably benign	Het
Stk32a	A	T	18: 43,448,209 (GRCm39)	N396I	possibly damaging	Het
Stox2	G	A	8: 47,639,512 (GRCm39)	P894L	probably benign	Het
Trim33	T	C	3: 103,218,831 (GRCm39)		probably null	Het
Tyrp1	T	C	4: 80,758,907 (GRCm39)	V260A	probably benign	Het
Ush2a	T	C	1: 188,643,261 (GRCm39)	Y4208H	probably damaging	Het
Vmn1r25	T	A	6: 57,956,065 (GRCm39)	K75*	probably null	Het
Vmn2r117	T	A	17: 23,698,381 (GRCm39)	N64I	possibly damaging	Het
Wdfy4	C	T	14: 32,695,492 (GRCm39)		probably null	Het
Wnt8a	A	T	18: 34,678,569 (GRCm39)	I128F	probably damaging	Het
Zc3h7b	C	A	15: 81,663,461 (GRCm39)	Y484*	probably null	Het
Zfp619	A	G	7: 39,184,645 (GRCm39)	K225R	probably benign	Het

Other mutations in Trav16d-dv11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Trav16d-dv11	APN	14	53,285,041 (GRCm39)	missense	possibly damaging	0.92
R1549:Trav16d-dv11	UTSW	14	53,284,799 (GRCm39)	unclassified	probably benign
R4469:Trav16d-dv11	UTSW	14	53,285,035 (GRCm39)	missense	probably benign	0.00
R8154:Trav16d-dv11	UTSW	14	53,284,999 (GRCm39)	missense	probably damaging	1.00
R8523:Trav16d-dv11	UTSW	14	53,285,122 (GRCm39)	missense	probably benign	0.01
R9289:Trav16d-dv11	UTSW	14	53,285,086 (GRCm39)	missense	probably benign	0.00
R9666:Trav16d-dv11	UTSW	14	53,285,037 (GRCm39)	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