Incidental Mutation 'R6952:Taco1'
ID 543296
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 045064-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.211) question?
Stock # R6952 (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 C at 105963942 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 234 (S234P)
Ref Sequence ENSEMBL: ENSMUSP00000002048 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002048]
AlphaFold Q8K0Z7
Predicted Effect probably benign
Transcript: ENSMUST00000002048
AA Change: S234P

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000002048
Gene: ENSMUSG00000001983
AA Change: S234P

DomainStartEndE-ValueType
Pfam:Transcrip_reg 58 293 1.1e-64 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (44/44)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf3 T G 16: 20,368,484 (GRCm39) probably null Het
Acap1 C A 11: 69,776,343 (GRCm39) V219L probably benign Het
Arpp21 G A 9: 111,955,550 (GRCm39) P530S probably damaging Het
Atp6v1b1 T C 6: 83,731,792 (GRCm39) V224A probably damaging Het
Brd3 T C 2: 27,344,371 (GRCm39) D453G probably damaging Het
Btbd10 A T 7: 112,951,150 (GRCm39) probably null Het
Ccdc148 T C 2: 58,713,657 (GRCm39) H498R probably damaging Het
Cga A T 4: 34,905,171 (GRCm39) Y65F possibly damaging Het
Chd7 A T 4: 8,856,797 (GRCm39) H136L probably damaging Het
Chit1 T C 1: 134,071,022 (GRCm39) Y34H probably damaging Het
Cimap2 C G 4: 106,467,596 (GRCm39) probably null Het
Dapk2 C G 9: 66,161,904 (GRCm39) R271G probably benign Het
Dnhd1 T G 7: 105,362,895 (GRCm39) V3819G probably damaging Het
Dsg3 A T 18: 20,658,216 (GRCm39) I276F possibly damaging Het
Dusp1 T C 17: 26,726,577 (GRCm39) S162G probably benign Het
Entrep1 A T 19: 23,962,082 (GRCm39) M307K possibly damaging Het
Gga2 C A 7: 121,598,111 (GRCm39) A328S probably benign Het
Gpr183 A G 14: 122,191,897 (GRCm39) I208T possibly damaging Het
Haspin T C 11: 73,026,971 (GRCm39) D706G possibly damaging Het
Hdac5 T C 11: 102,095,786 (GRCm39) I338V probably benign Het
Ik C T 18: 36,886,613 (GRCm39) R362C probably damaging Het
Kdm4c T G 4: 74,275,587 (GRCm39) C754W probably damaging Het
Limk1 T A 5: 134,699,332 (GRCm39) I142F possibly damaging Het
Mccc2 T C 13: 100,104,234 (GRCm39) E305G probably benign Het
Mdm1 A G 10: 118,003,962 (GRCm39) D639G probably damaging Het
Mefv T G 16: 3,528,744 (GRCm39) T566P probably damaging Het
Mep1b G A 18: 21,221,727 (GRCm39) V226I probably benign Het
Mgmt T C 7: 136,553,064 (GRCm39) M19T probably benign Het
Mrgpra6 A T 7: 46,835,693 (GRCm39) S243T probably benign Het
Myh7 C T 14: 55,229,197 (GRCm39) R169Q probably damaging Het
Myo1b T C 1: 51,801,668 (GRCm39) I917V probably damaging Het
Or4a80 A T 2: 89,582,971 (GRCm39) M67K possibly damaging Het
Phlpp1 T C 1: 106,100,209 (GRCm39) L159P probably benign Het
Plekhh3 T C 11: 101,056,482 (GRCm39) E371G probably damaging Het
Rps6ka2 C A 17: 7,495,377 (GRCm39) D21E probably benign Het
Slc47a1 T A 11: 61,235,280 (GRCm39) M518L probably benign Het
Slitrk6 T C 14: 110,987,974 (GRCm39) T578A probably benign Het
Syne2 A T 12: 75,974,205 (GRCm39) K1133N possibly damaging Het
Trpv4 G A 5: 114,771,263 (GRCm39) S422F probably damaging Het
Tvp23b T A 11: 62,775,952 (GRCm39) D97E possibly damaging Het
Vmn1r37 A T 6: 66,708,523 (GRCm39) I13L probably benign Het
Vrk2 T A 11: 26,485,597 (GRCm39) K130N probably damaging Het
Wdfy4 C T 14: 32,681,923 (GRCm39) R3016Q probably damaging Het
Zfp383 T C 7: 29,614,380 (GRCm39) S212P probably benign 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
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
R7760:Taco1 UTSW 11 105,963,938 (GRCm39) missense possibly damaging 0.57
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'- GCACAGTGTTACTAAGTGAACACC -3'
(R):5'- CGAGGCCGCTTATTCAATATTG -3'

Sequencing Primer
(F):5'- CACCAGAGGATAGGGCCTATTGTG -3'
(R):5'- TGTCATAAACGTGAATCACATCCTC -3'
Posted On 2018-11-28