Incidental Mutation 'IGL02751:Tango2'
ID 306309
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tango2
Ensembl Gene ENSMUSG00000013539
Gene Name transport and golgi organization 2
Synonyms D16H22S680E, T10
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02751
Quality Score
Status
Chromosome 16
Chromosomal Location 18118689-18165962 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 18125857 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 143 (P143H)
Ref Sequence ENSEMBL: ENSMUSP00000156240 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115628] [ENSMUST00000125287] [ENSMUST00000128580] [ENSMUST00000130752] [ENSMUST00000232588] [ENSMUST00000231543] [ENSMUST00000231605] [ENSMUST00000231372]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000115628
AA Change: P143H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000111291
Gene: ENSMUSG00000013539
AA Change: P143H

DomainStartEndE-ValueType
Pfam:TANGO2 1 259 4.6e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000125287
Predicted Effect probably benign
Transcript: ENSMUST00000128580
AA Change: P143H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121582
Gene: ENSMUSG00000013539
AA Change: P143H

DomainStartEndE-ValueType
Pfam:NRDE 1 151 4.5e-58 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130752
SMART Domains Protein: ENSMUSP00000121300
Gene: ENSMUSG00000013539

DomainStartEndE-ValueType
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: ENSMUST00000145758
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152684
Predicted Effect probably benign
Transcript: ENSMUST00000232588
AA Change: P143H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect probably benign
Transcript: ENSMUST00000231543
AA Change: P103H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000231605
AA Change: P44H

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000231372
AA Change: P92H

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231255
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232073
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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adra1a A T 14: 66,964,981 (GRCm39) I324F possibly damaging Het
Ago2 G A 15: 73,002,746 (GRCm39) A162V possibly damaging Het
Aox4 G T 1: 58,298,211 (GRCm39) R1059I probably damaging Het
AU021092 C A 16: 5,030,483 (GRCm39) V304L probably damaging Het
Bcs1l T G 1: 74,628,775 (GRCm39) F20V probably damaging Het
Braf T C 6: 39,637,801 (GRCm39) probably benign Het
Cacna1a T C 8: 85,296,581 (GRCm39) C1200R probably damaging Het
Ccdc116 T A 16: 16,959,836 (GRCm39) R284S probably benign Het
Cntnap5a T G 1: 116,112,187 (GRCm39) probably null Het
Col12a1 A T 9: 79,521,141 (GRCm39) probably benign Het
Cpa4 T A 6: 30,581,739 (GRCm39) Y229N probably damaging Het
Fbp1 A C 13: 63,022,957 (GRCm39) probably null Het
Gimap3 A T 6: 48,742,172 (GRCm39) W253R probably benign Het
Gm1330 G A 2: 148,832,393 (GRCm39) probably benign Het
Gm4841 A G 18: 60,404,093 (GRCm39) probably benign Het
Grip1 A G 10: 119,814,482 (GRCm39) T338A probably benign Het
Hmg20b A T 10: 81,182,385 (GRCm39) probably benign Het
Hnrnpdl A G 5: 100,185,833 (GRCm39) F151L probably damaging Het
Klhl30 T A 1: 91,281,821 (GRCm39) F141I probably damaging Het
Lamc3 T A 2: 31,810,716 (GRCm39) F862Y probably benign Het
Lap3 T C 5: 45,662,138 (GRCm39) C313R probably damaging Het
Lrp2 T C 2: 69,363,806 (GRCm39) T344A possibly damaging Het
Mga A G 2: 119,778,251 (GRCm39) E2023G possibly damaging Het
Mical2 A T 7: 111,931,243 (GRCm39) K735N probably benign Het
Muc15 A G 2: 110,562,118 (GRCm39) T185A probably benign Het
Or12d17 T C 17: 37,777,306 (GRCm39) C70R probably damaging Het
Osbp2 T C 11: 3,813,434 (GRCm39) K145R probably benign Het
Pde1c T C 6: 56,158,673 (GRCm39) T52A probably damaging Het
Pidd1 A G 7: 141,019,076 (GRCm39) S802P possibly damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Prep T A 10: 44,991,282 (GRCm39) I316N probably damaging Het
Prl3d2 G A 13: 27,310,014 (GRCm39) probably null Het
Pygo1 A T 9: 72,852,319 (GRCm39) I169F probably benign Het
Rnf10 G T 5: 115,380,725 (GRCm39) A716E probably benign Het
Rtn4 G A 11: 29,656,409 (GRCm39) probably null Het
Ryr1 A T 7: 28,778,199 (GRCm39) V2099E probably damaging Het
Slc48a1 G A 15: 97,687,961 (GRCm39) probably benign Het
Spag17 T A 3: 99,918,110 (GRCm39) Y364* probably null Het
Syt3 A T 7: 44,035,486 (GRCm39) D31V possibly damaging Het
Tas2r104 A G 6: 131,662,107 (GRCm39) S201P probably damaging Het
Tas2r107 G A 6: 131,636,447 (GRCm39) L201F probably damaging Het
Vmn1r81 A T 7: 11,994,374 (GRCm39) L78Q probably damaging Het
Vmn2r18 T A 5: 151,508,072 (GRCm39) T351S probably benign Het
Other mutations in Tango2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02458:Tango2 APN 16 18,128,731 (GRCm39) critical splice donor site probably null
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
R2179:Tango2 UTSW 16 18,128,762 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16