Mutagenetix > Incidental Mutation

Incidental Mutation 'R8295:Trav21-dv12'

638900

Institutional Source

Beutler Lab

Gene Symbol

Trav21-dv12

Ensembl Gene

ENSMUSG00000076863

Gene Name

T cell receptor alpha variable 21-DV12

Synonyms

Gm13892

MMRRC Submission

067714-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R8295 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54113473-54114209 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 54113510 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 13 (L13*)

Ref Sequence

ENSEMBL: ENSMUSP00000137998 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180938]

AlphaFold

A0A075B6C4

Predicted Effect

probably null
Transcript: ENSMUST00000180938
AA Change: L13*

SMART Domains

Protein: ENSMUSP00000137998
Gene: ENSMUSG00000076863
AA Change: L13*

Domain	Start	End	E-Value	Type
low complexity region	6	17	N/A	INTRINSIC
Pfam:V-set	18	108	2.1e-12	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	G	7: 119,974,188 (GRCm39)	I915S	probably benign	Het
Abcf2	CAT	CATAAT	5: 24,781,589 (GRCm39)		probably benign	Het
Ahdc1	T	A	4: 132,788,762 (GRCm39)	M1K	probably null	Het
Akr1c12	T	G	13: 4,322,355 (GRCm39)	D229A	probably benign	Het
Ankfn1	C	T	11: 89,302,923 (GRCm39)	V32M	probably benign	Het
C7	A	T	15: 5,018,327 (GRCm39)	C839S	probably damaging	Het
Card6	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	TTGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGTGGATGAGAGGGCTTAGCATGGGAGGACTGCGGATGAGAGGGCTTAGCATGGGAGGACTG	15: 5,128,173 (GRCm39)		probably benign	Het
Ccdc110	A	G	8: 46,396,416 (GRCm39)	D769G	probably damaging	Het
Clk2	G	T	3: 89,080,766 (GRCm39)	D251Y	probably damaging	Het
Dlx1	C	A	2: 71,362,726 (GRCm39)	P211Q	probably benign	Het
Dock8	G	A	19: 25,100,600 (GRCm39)	A703T	probably benign	Het
Eif2d	T	A	1: 131,085,988 (GRCm39)	L161Q	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fndc3a	T	C	14: 72,789,959 (GRCm39)	I1079V	probably benign	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gtf3c1	A	G	7: 125,262,234 (GRCm39)	V1104A	probably benign	Het
H2-Ab1	A	T	17: 34,483,816 (GRCm39)	Y59F	probably damaging	Het
Ints2	T	C	11: 86,115,914 (GRCm39)	T772A	probably damaging	Het
Kcnh4	A	G	11: 100,640,523 (GRCm39)	V501A	probably benign	Het
Ltbp1	A	T	17: 75,486,184 (GRCm39)	T70S	probably benign	Het
Obox2	A	G	7: 15,131,247 (GRCm39)	T118A	probably benign	Het
Or52ab4	C	T	7: 102,987,474 (GRCm39)	T71I	probably benign	Het
Or8k17	T	C	2: 86,066,916 (GRCm39)	M88V	probably benign	Het
Pih1d2	C	T	9: 50,532,379 (GRCm39)	H146Y	probably damaging	Het
Pou2af1	C	T	9: 51,144,305 (GRCm39)	S73F	possibly damaging	Het
Rnase2a	T	A	14: 51,493,096 (GRCm39)	I90L	probably benign	Het
S100a16	T	A	3: 90,449,336 (GRCm39)	C4S	probably benign	Het
Sprr1a	T	C	3: 92,391,849 (GRCm39)	K51E	possibly damaging	Het
Tmem168	A	T	6: 13,602,850 (GRCm39)	M172K	probably damaging	Het
Tnrc6b	T	C	15: 80,797,565 (GRCm39)	S1371P	probably damaging	Het
Vmn1r234	T	A	17: 21,449,101 (GRCm39)	V5D	probably benign	Het
Vmn2r18	A	G	5: 151,508,621 (GRCm39)	C168R	probably damaging	Het
Vmn2r90	C	T	17: 17,948,358 (GRCm39)	P535S	probably benign	Het
Zfp595	A	G	13: 67,464,764 (GRCm39)	C503R	possibly damaging	Het

Other mutations in Trav21-dv12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00980:Trav21-dv12	APN	14	54,114,107 (GRCm39)	missense	probably benign	0.36
IGL01599:Trav21-dv12	APN	14	54,114,188 (GRCm39)	missense	probably damaging	1.00
IGL02185:Trav21-dv12	APN	14	54,113,955 (GRCm39)	missense	probably benign	0.00
IGL03342:Trav21-dv12	APN	14	54,113,501 (GRCm39)	missense	unknown
R4819:Trav21-dv12	UTSW	14	54,114,070 (GRCm39)	nonsense	probably null
R6460:Trav21-dv12	UTSW	14	54,114,191 (GRCm39)	missense	probably benign	0.00
R7327:Trav21-dv12	UTSW	14	54,113,514 (GRCm39)	critical splice donor site	probably benign
R7398:Trav21-dv12	UTSW	14	54,114,162 (GRCm39)	missense	probably benign	0.02
R7547:Trav21-dv12	UTSW	14	54,114,072 (GRCm39)	missense	probably damaging	0.96
R7592:Trav21-dv12	UTSW	14	54,113,997 (GRCm39)	missense	probably damaging	1.00
R8059:Trav21-dv12	UTSW	14	54,114,178 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGATAGACCCCAGCAAG -3'
(R):5'- TTCCTTGAGCTCCAGGAACTC -3'

Sequencing Primer
(F):5'- AAGAGGCCCTTGACTGGAGC -3'
(R):5'- GAACTCAGAGCTCCTATTCGTGAG -3'

Posted On

2020-07-28