Mutagenetix > Incidental Mutation

Incidental Mutation 'R2179:Tango2'

237084

Institutional Source

Beutler Lab

Gene Symbol

Tango2

Ensembl Gene

ENSMUSG00000013539

Gene Name

transport and golgi organization 2

Synonyms

D16H22S680E, T10

MMRRC Submission

040181-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2179 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

18118689-18165962 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 18128762 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 77 (N77K)

Ref Sequence

ENSEMBL: ENSMUSP00000156081 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000115628
AA Change: N117K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000111291
Gene: ENSMUSG00000013539
AA Change: N117K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000125287
AA Change: N117K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000128580
AA Change: N117K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121582
Gene: ENSMUSG00000013539
AA Change: N117K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000130752
AA Change: N117K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121300
Gene: ENSMUSG00000013539
AA Change: N117K

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

probably damaging
Transcript: ENSMUST00000231605
AA Change: N18K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231372
AA Change: N66K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000231543
AA Change: N77K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000232588
AA Change: N117K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231255

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231308

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232073

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.5%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,271,018 (GRCm39)	D849G	possibly damaging	Het
Amz2	A	G	11: 109,320,658 (GRCm39)	H155R	probably damaging	Het
Cfhr4	G	T	1: 139,659,279 (GRCm39)	P679Q	probably damaging	Het
Chuk	C	A	19: 44,092,160 (GRCm39)	C46F	possibly damaging	Het
Cp	A	T	3: 20,042,151 (GRCm39)	D973V	probably damaging	Het
Cpm	T	A	10: 117,519,266 (GRCm39)	D391E	probably benign	Het
Creb3	T	C	4: 43,566,306 (GRCm39)	S271P	probably damaging	Het
Cubn	T	A	2: 13,323,053 (GRCm39)	H2838L	possibly damaging	Het
Dennd2d	A	G	3: 106,399,776 (GRCm39)	H233R	probably benign	Het
Dnaaf2	C	A	12: 69,245,071 (GRCm39)		probably benign	Het
Enpp3	T	A	10: 24,681,793 (GRCm39)	Q304H	probably benign	Het
Fermt3	C	A	19: 6,991,782 (GRCm39)	R143L	probably benign	Het
Fndc8	A	C	11: 82,789,580 (GRCm39)	K246T	probably damaging	Het
Gaa	A	G	11: 119,165,884 (GRCm39)		probably null	Het
Gucy2e	A	T	11: 69,119,404 (GRCm39)		probably null	Het
Igf1r	A	G	7: 67,653,698 (GRCm39)	T79A	probably damaging	Het
Ikbkb	C	T	8: 23,171,769 (GRCm39)		probably null	Het
Il16	A	T	7: 83,337,287 (GRCm39)		probably null	Het
Irs1	T	A	1: 82,267,940 (GRCm39)	H92L	possibly damaging	Het
Itpr2	A	G	6: 146,277,464 (GRCm39)	M315T	probably benign	Het
Lrba	T	G	3: 86,261,588 (GRCm39)	L1514R	probably damaging	Het
Mcpt2	A	G	14: 56,279,573 (GRCm39)		probably benign	Het
Metap1d	A	G	2: 71,283,715 (GRCm39)	I5V	probably benign	Het
Mga	T	A	2: 119,790,923 (GRCm39)	S2479T	probably damaging	Het
Mllt10	T	C	2: 18,215,604 (GRCm39)	V1063A	probably damaging	Het
Mroh2b	G	A	15: 4,950,928 (GRCm39)		probably null	Het
Mtfr1	C	T	3: 19,254,308 (GRCm39)	R15*	probably null	Het
Npm2	A	G	14: 70,885,749 (GRCm39)	V152A	probably benign	Het
Nrxn3	T	A	12: 89,221,448 (GRCm39)	V409D	probably damaging	Het
Ogdhl	A	G	14: 32,057,302 (GRCm39)	N303D	probably damaging	Het
Or10g9	T	C	9: 39,912,220 (GRCm39)	Y101C	probably benign	Het
Or10q1b	T	C	19: 13,682,758 (GRCm39)	V189A	probably damaging	Het
Or4d11	T	C	19: 12,013,452 (GRCm39)	Y218C	probably damaging	Het
Or6s1	A	G	14: 51,308,238 (GRCm39)	V204A	probably benign	Het
Pah	T	C	10: 87,403,197 (GRCm39)	F191L	probably damaging	Het
Paics	A	T	5: 77,109,291 (GRCm39)	I209F	probably damaging	Het
Pcare	T	C	17: 72,059,521 (GRCm39)	D52G	probably damaging	Het
Pld6	A	G	11: 59,678,184 (GRCm39)	L93P	probably damaging	Het
Plod3	T	C	5: 137,019,862 (GRCm39)	F431L	possibly damaging	Het
Ppm1b	T	A	17: 85,301,862 (GRCm39)	D247E	probably damaging	Het
Prx	A	G	7: 27,217,410 (GRCm39)	D637G	probably benign	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,116 (GRCm39)		probably benign	Het
Ryr2	A	T	13: 11,720,679 (GRCm39)	Y2656*	probably null	Het
Setd2	T	A	9: 110,423,756 (GRCm39)	Y492*	probably null	Het
Shmt1	A	G	11: 60,697,825 (GRCm39)	W9R	possibly damaging	Het
Slc25a17	A	G	15: 81,222,151 (GRCm39)	V107A	probably benign	Het
Sptlc1	A	T	13: 53,505,675 (GRCm39)	Y248N	probably damaging	Het
Stam2	T	C	2: 52,584,936 (GRCm39)	T453A	probably benign	Het
Tas2r121	A	T	6: 132,677,831 (GRCm39)	I47N	probably damaging	Het
Terb1	A	T	8: 105,179,347 (GRCm39)	C614S	probably damaging	Het
Terb1	T	C	8: 105,199,369 (GRCm39)	N525S	probably benign	Het
Ttc6	A	G	12: 57,719,904 (GRCm39)	D825G	possibly damaging	Het
U90926	A	T	5: 92,357,838 (GRCm39)	H104Q	probably benign	Het
Zfand4	G	A	6: 116,291,742 (GRCm39)	A559T	possibly damaging	Het
Zfp462	T	C	4: 55,009,524 (GRCm39)	S497P	possibly damaging	Het

Other mutations in Tango2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02458:Tango2	APN	16	18,128,731 (GRCm39)	critical splice donor site	probably null
IGL02751:Tango2	APN	16	18,125,857 (GRCm39)	missense	probably benign	0.01
D4186:Tango2	UTSW	16	18,130,530 (GRCm39)	missense	possibly damaging	0.83
I0000:Tango2	UTSW	16	18,130,530 (GRCm39)	missense	possibly damaging	0.83
R4273:Tango2	UTSW	16	18,120,654 (GRCm39)	unclassified	probably benign
R4536:Tango2	UTSW	16	18,142,219 (GRCm39)	critical splice donor site	probably null
R4576:Tango2	UTSW	16	18,119,392 (GRCm39)	missense	probably damaging	1.00
R4860:Tango2	UTSW	16	18,128,765 (GRCm39)	synonymous	silent
R5988:Tango2	UTSW	16	18,120,554 (GRCm39)	missense	probably damaging	1.00
R6392:Tango2	UTSW	16	18,119,403 (GRCm39)	missense	probably damaging	0.99
R7596:Tango2	UTSW	16	18,120,574 (GRCm39)	missense	probably damaging	1.00
R8967:Tango2	UTSW	16	18,165,763 (GRCm39)	start gained	probably benign
X0062:Tango2	UTSW	16	18,120,579 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- CAGTTCTCTCACATAGGGAGCC -3'
(R):5'- GATGTTGGAGTCCCAGTGGAAC -3'

Sequencing Primer
(F):5'- TAGGGAGCCAGTGATCTCTACATC -3'
(R):5'- AGTGGAACCCCTCTTCCTATG -3'

Posted On

2014-10-02