Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02185:Trav21-dv12'

283591

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Trav21-dv12

Ensembl Gene

ENSMUSG00000076863

Gene Name

T cell receptor alpha variable 21-DV12

Synonyms

Gm13892

Accession Numbers

Essential gene?

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

Stock #

IGL02185

Quality Score

Status

Chromosome

Chromosomal Location

54113473-54114209 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54113955 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 25 (D25V)

Ref Sequence

ENSEMBL: ENSMUSP00000137998 (fasta)

Gene Model

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

AlphaFold

A0A075B6C4

Predicted Effect

probably benign
Transcript: ENSMUST00000180938
AA Change: D25V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000137998
Gene: ENSMUSG00000076863
AA Change: D25V

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adh5	A	G	3: 138,156,815 (GRCm39)	D167G	probably benign	Het
C9orf72	A	T	4: 35,197,046 (GRCm39)	W340R	probably damaging	Het
Cand2	G	A	6: 115,766,471 (GRCm39)	A359T	probably benign	Het
Cnnm2	T	C	19: 46,751,434 (GRCm39)	V408A	probably benign	Het
Eloa	A	G	4: 135,740,290 (GRCm39)		probably benign	Het
Ern2	T	C	7: 121,772,598 (GRCm39)		probably benign	Het
Hs6st3	A	G	14: 120,106,296 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,233,108 (GRCm39)	I1736F	possibly damaging	Het
Ifrd2	A	T	9: 107,468,290 (GRCm39)	I253F	probably benign	Het
Kctd7	G	A	5: 130,181,299 (GRCm39)	V241I	possibly damaging	Het
Lcp1	T	C	14: 75,466,740 (GRCm39)	F616L	possibly damaging	Het
Lyst	C	T	13: 13,835,678 (GRCm39)	Q1787*	probably null	Het
Mapkbp1	A	T	2: 119,845,144 (GRCm39)	T342S	possibly damaging	Het
Mcph1	A	G	8: 18,719,006 (GRCm39)		probably benign	Het
Mctp2	T	C	7: 71,730,571 (GRCm39)	H868R	probably benign	Het
Mefv	T	C	16: 3,533,714 (GRCm39)	T186A	probably benign	Het
Nol9	T	A	4: 152,142,368 (GRCm39)	I666N	probably damaging	Het
Or51t4	T	A	7: 102,597,721 (GRCm39)	N16K	probably damaging	Het
Or6c205	G	T	10: 129,086,904 (GRCm39)	C167F	possibly damaging	Het
Or8b8	A	C	9: 37,809,531 (GRCm39)	Y277S	probably damaging	Het
Pum2	T	C	12: 8,798,955 (GRCm39)		probably null	Het
Rpgrip1	A	C	14: 52,349,685 (GRCm39)	K24N	possibly damaging	Het
Ryr3	T	A	2: 112,797,548 (GRCm39)	T122S	probably damaging	Het
Sfn	A	G	4: 133,328,636 (GRCm39)	S149P	probably benign	Het
Slc27a2	T	A	2: 126,409,736 (GRCm39)	V306D	probably damaging	Het
Slc35a1	A	G	4: 34,675,584 (GRCm39)	V81A	probably benign	Het
Ttn	T	C	2: 76,598,878 (GRCm39)	H11018R	possibly damaging	Het
Txn1	A	T	4: 57,950,883 (GRCm39)	Y49N	probably benign	Het
Ulk2	C	T	11: 61,672,886 (GRCm39)	A903T	probably damaging	Het
Vmn2r77	G	A	7: 86,444,360 (GRCm39)	M4I	unknown	Het
Vmn2r85	G	T	10: 130,254,561 (GRCm39)	L708I	probably benign	Het
Vmn2r9	G	A	5: 108,991,502 (GRCm39)	L620F	probably damaging	Het
Vrk2	T	A	11: 26,485,638 (GRCm39)	R117*	probably null	Het
Xpo6	A	T	7: 125,712,980 (GRCm39)		probably benign	Het
Zdhhc14	C	A	17: 5,803,157 (GRCm39)	T420K	probably benign	Het
Zfp334	G	T	2: 165,228,869 (GRCm39)		probably benign	Het
Zfp958	T	A	8: 4,678,990 (GRCm39)	C338*	probably null	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
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
R8295:Trav21-dv12	UTSW	14	54,113,510 (GRCm39)	nonsense	probably null

Posted On

2015-04-16