Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02458:Tango2'

294535

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tango2

Ensembl Gene

ENSMUSG00000013539

Gene Name

transport and golgi organization 2

Synonyms

T10, D16H22S680E

Accession Numbers

Genbank: NM_138583; MGI: 101825

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02458

Quality Score

Status

Chromosome

Chromosomal Location

18300825-18348103 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 18310867 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000156240 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115628] [ENSMUST00000125287] [ENSMUST00000128580] [ENSMUST00000130752] [ENSMUST00000231372] [ENSMUST00000231543] [ENSMUST00000231605] [ENSMUST00000232588]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000115628

SMART Domains

Protein: ENSMUSP00000111291
Gene: ENSMUSG00000013539

Domain	Start	End	E-Value	Type
Pfam:TANGO2	1	259	4.6e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125287

Predicted Effect

probably benign
Transcript: ENSMUST00000128580

SMART Domains

Protein: ENSMUSP00000121582
Gene: ENSMUSG00000013539

Domain	Start	End	E-Value	Type
Pfam:NRDE	1	151	4.5e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130752

SMART Domains

Protein: ENSMUSP00000121300
Gene: ENSMUSG00000013539

Domain	Start	End	E-Value	Type
Pfam:NRDE	1	118	6.6e-49	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145203

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152684

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231308

Predicted Effect

probably null
Transcript: ENSMUST00000231372

Predicted Effect

probably null
Transcript: ENSMUST00000231543

Predicted Effect

probably null
Transcript: ENSMUST00000231605

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232073

Predicted Effect

probably null
Transcript: ENSMUST00000232588

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the transport and Golgi organization family, whose members are predicted to play roles in secretory protein loading in the endoplasmic reticulum. Depletion of this gene in Drosophila S2 cells causes fusion of the Golgi with the ER. In mouse tissue culture cells, this protein co-localizes with a mitochondrially targeted mCherry protein and displays very low levels of co-localization with Golgi and peroxisomes. Allelic variants of this gene are associated with rhabdomyolysis, metabolic crises with encephalopathy, and cardiac arrhythmia. [provided by RefSeq, Apr 2016]

Allele List at MGI

All alleles(8) : Gene trapped(8)

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam25	A	T	8: 40,753,807	I37L	probably benign	Het
Alpk1	A	G	3: 127,681,319		probably null	Het
Ankrd33	T	C	15: 101,116,607	F8L	probably damaging	Het
Avil	A	G	10: 127,016,353	K669R	probably benign	Het
Bcor	G	T	X: 12,048,510	L1165I	probably damaging	Het
C7	A	G	15: 5,059,389		probably benign	Het
Cc2d2a	A	G	5: 43,718,554	I958V	probably benign	Het
Cenpe	A	T	3: 135,230,108	K435*	probably null	Het
Chrna7	G	A	7: 63,106,094	L235F	probably damaging	Het
Col6a3	C	A	1: 90,779,197	V2065L	unknown	Het
Copb1	A	T	7: 114,246,785	N183K	probably benign	Het
Cpn2	G	A	16: 30,260,835	A16V	probably benign	Het
Cul1	A	G	6: 47,525,608	K769E	possibly damaging	Het
Ddx58	A	G	4: 40,229,536	S83P	probably damaging	Het
Deup1	C	T	9: 15,592,360	V302M	probably benign	Het
Dnah17	T	C	11: 118,036,350	K3871E	probably damaging	Het
Dnah6	A	G	6: 73,027,448	V3844A	probably benign	Het
Dnah7a	A	T	1: 53,618,328	L763*	probably null	Het
Donson	A	T	16: 91,681,176	W461R	probably damaging	Het
Dpp10	T	C	1: 123,341,689	I664V	probably benign	Het
Dusp8	T	A	7: 142,082,747	T369S	probably benign	Het
Dync2h1	A	T	9: 7,117,422	L56Q	probably damaging	Het
Ecd	A	T	14: 20,324,477	S532T	probably benign	Het
Frg2f1	G	A	4: 119,530,957	T115I	probably damaging	Het
Gpatch2l	A	G	12: 86,288,961		probably benign	Het
Gtf3c2	T	A	5: 31,159,523		probably null	Het
Haghl	T	C	17: 25,783,496		probably benign	Het
Hoxc8	A	T	15: 102,992,749	N208I	probably damaging	Het
Igf2	T	C	7: 142,654,048	D115G	probably benign	Het
Jag2	T	A	12: 112,915,993	D385V	probably damaging	Het
Laptm4b	A	G	15: 34,258,742	H54R	probably benign	Het
Lrp2	A	G	2: 69,521,773	S640P	probably damaging	Het
Map3k8	A	C	18: 4,334,660	V328G	probably damaging	Het
Mfsd13a	A	G	19: 46,372,247	E388G	probably damaging	Het
Ms4a13	G	A	19: 11,171,928	T168I	probably benign	Het
Mtg1	C	A	7: 140,150,172	Q294K	probably benign	Het
Myh3	C	T	11: 67,096,940	A1413V	possibly damaging	Het
Neo1	A	T	9: 58,893,867		probably benign	Het
Ogfod3	T	C	11: 121,200,923	E119G	probably benign	Het
Olfr1250	A	G	2: 89,657,348	L31P	probably damaging	Het
Olfr1331	A	G	4: 118,869,300	N173S	possibly damaging	Het
Olfr331	A	T	11: 58,502,247	M109K	probably benign	Het
Olfr800	A	T	10: 129,660,606	I267F	probably benign	Het
Olfr988	G	A	2: 85,353,662	T88I	probably benign	Het
Parvb	G	T	15: 84,303,434	D248Y	probably damaging	Het
Pcdh11x	A	T	X: 120,400,618	H586L	possibly damaging	Het
Phactr2	T	C	10: 13,261,828	E120G	probably damaging	Het
Ppfibp2	A	T	7: 107,742,964	Q775L	probably damaging	Het
Rcbtb1	A	G	14: 59,229,994	Y427C	probably damaging	Het
Rftn2	A	T	1: 55,211,192	C131*	probably null	Het
Rps6ka2	A	G	17: 7,289,003	D474G	probably benign	Het
Rsbn1l	T	C	5: 20,951,736	E17G	probably damaging	Het
Ryr2	T	C	13: 11,705,699	M2688V	probably benign	Het
Slc22a18	C	A	7: 143,492,837		probably benign	Het
Smarcc1	A	G	9: 110,132,126		probably benign	Het
Soat2	T	C	15: 102,162,115	V451A	probably damaging	Het
Sptlc2	A	T	12: 87,309,893		probably benign	Het
Tada1	C	T	1: 166,392,634	L308F	probably damaging	Het
Tbc1d15	A	T	10: 115,229,206	V158D	probably damaging	Het
Tcrg-V3	A	G	13: 19,243,253	Y102C	probably damaging	Het
Tmx2	A	T	2: 84,673,244		probably benign	Het
Tpte	T	A	8: 22,305,858	I79K	probably benign	Het
Trav6-1	A	G	14: 52,638,742	I40V	probably benign	Het
Ubash3a	T	C	17: 31,231,481	S377P	possibly damaging	Het
Vmn2r7	T	C	3: 64,693,025	D575G	probably damaging	Het
Vps41	A	G	13: 18,853,479	D704G	possibly damaging	Het
Vwa5a	T	C	9: 38,726,963	S261P	possibly damaging	Het
Zc3hav1	A	G	6: 38,340,329	V112A	probably damaging	Het

Other mutations in Tango2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02751:Tango2	APN	16	18307993	missense	probably benign	0.01
D4186:Tango2	UTSW	16	18312666	missense	possibly damaging	0.83
I0000:Tango2	UTSW	16	18312666	missense	possibly damaging	0.83
R2179:Tango2	UTSW	16	18310898	missense	probably damaging	1.00
R4273:Tango2	UTSW	16	18302790	unclassified	probably benign
R4536:Tango2	UTSW	16	18324355	critical splice donor site	probably null
R4576:Tango2	UTSW	16	18301528	missense	probably damaging	1.00
R4860:Tango2	UTSW	16	18310901	synonymous	silent
R5988:Tango2	UTSW	16	18302690	missense	probably damaging	1.00
R6392:Tango2	UTSW	16	18301539	missense	probably damaging	0.99
R7596:Tango2	UTSW	16	18302710	missense	probably damaging	1.00
R8967:Tango2	UTSW	16	18347899	start gained	probably benign
X0062:Tango2	UTSW	16	18302715	splice site	probably null

Posted On

2015-04-16