Incidental Mutation 'R7760:Taco1'
ID 597810
Institutional Source Beutler Lab
Gene Symbol Taco1
Ensembl Gene ENSMUSG00000001983
Gene Name translational activator of mitochondrially encoded cytochrome c oxidase I
Synonyms Ccdc44, 2310066I18Rik
MMRRC Submission 045816-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.178) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 105956887-105964438 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 105963938 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 232 (D232E)
Ref Sequence ENSEMBL: ENSMUSP00000002048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002048]
AlphaFold Q8K0Z7
Predicted Effect possibly damaging
Transcript: ENSMUST00000002048
AA Change: D232E

PolyPhen 2 Score 0.573 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000002048
Gene: ENSMUSG00000001983
AA Change: D232E

DomainStartEndE-ValueType
Pfam:Transcrip_reg 58 293 1.1e-64 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a mitochondrial protein that function as a translational activator of mitochondrially-encoded cytochrome c oxidase 1. Mutations in this gene are associated with Leigh syndrome.[provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygous null mice exhibit retinal neuron degeneration, cardiohypertrophy and motor dysfunction as a result of isolated complex IV deficiency. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Arl6 T C 16: 59,439,169 (GRCm39) D175G probably damaging Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R probably damaging Het
Other mutations in Taco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00538:Taco1 APN 11 105,962,805 (GRCm39) missense probably damaging 1.00
IGL02951:Taco1 APN 11 105,960,353 (GRCm39) missense probably benign 0.00
R2204:Taco1 UTSW 11 105,962,760 (GRCm39) missense probably benign 0.00
R3498:Taco1 UTSW 11 105,963,364 (GRCm39) missense probably benign 0.07
R5089:Taco1 UTSW 11 105,960,437 (GRCm39) missense probably benign 0.21
R5353:Taco1 UTSW 11 105,963,539 (GRCm39) splice site probably null
R6262:Taco1 UTSW 11 105,962,693 (GRCm39) nonsense probably null
R6952:Taco1 UTSW 11 105,963,942 (GRCm39) missense probably benign 0.01
R7326:Taco1 UTSW 11 105,963,443 (GRCm39) missense probably benign 0.31
R7527:Taco1 UTSW 11 105,962,795 (GRCm39) missense probably damaging 0.97
R7552:Taco1 UTSW 11 105,962,774 (GRCm39) missense probably benign 0.01
R9006:Taco1 UTSW 11 105,956,931 (GRCm39) start gained probably benign
R9293:Taco1 UTSW 11 105,963,930 (GRCm39) missense probably benign 0.05
R9572:Taco1 UTSW 11 105,963,938 (GRCm39) missense possibly damaging 0.57
Predicted Primers PCR Primer
(F):5'- TGTTACTAAGTGAACACCAGAGG -3'
(R):5'- GTCTAGTCGAGGCCGCTTATTC -3'

Sequencing Primer
(F):5'- CACCAGAGGATAGGGCCTATTGTG -3'
(R):5'- CGAGGCCGCTTATTCAATATTG -3'
Posted On 2019-11-26