Incidental Mutation 'R4285:Coq6'
ID 322036
Institutional Source Beutler Lab
Gene Symbol Coq6
Ensembl Gene ENSMUSG00000021235
Gene Name coenzyme Q6 monooxygenase
Synonyms 5930427M12Rik
MMRRC Submission 041080-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4285 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 84408530-84420570 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) C to T at 84417178 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021661] [ENSMUST00000021662] [ENSMUST00000072061] [ENSMUST00000110272] [ENSMUST00000110276] [ENSMUST00000110278] [ENSMUST00000152913] [ENSMUST00000120942]
AlphaFold Q8R1S0
Predicted Effect probably benign
Transcript: ENSMUST00000021661
SMART Domains Protein: ENSMUSP00000021661
Gene: ENSMUSG00000021235

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
Pfam:FAD_binding_3 195 328 3.9e-8 PFAM
Pfam:FAD_binding_3 334 435 1.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000021662
SMART Domains Protein: ENSMUSP00000021662
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072061
SMART Domains Protein: ENSMUSP00000071939
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
transmembrane domain 27 46 N/A INTRINSIC
Pfam:GDA1_CD39 65 451 1.9e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110272
SMART Domains Protein: ENSMUSP00000105901
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110276
SMART Domains Protein: ENSMUSP00000105905
Gene: ENSMUSG00000021235

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
Pfam:FAD_binding_3 195 328 5.1e-8 PFAM
Pfam:FAD_binding_3 334 435 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110278
SMART Domains Protein: ENSMUSP00000105907
Gene: ENSMUSG00000021235

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
low complexity region 46 56 N/A INTRINSIC
Pfam:FAD_binding_3 195 328 6.8e-8 PFAM
Pfam:FAD_binding_3 334 410 1.1e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153450
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126913
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140961
Predicted Effect probably benign
Transcript: ENSMUST00000145522
SMART Domains Protein: ENSMUSP00000117609
Gene: ENSMUSG00000021235

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
SCOP:d1foha5 35 167 2e-6 SMART
PDB:4K22|B 90 156 3e-8 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000152913
SMART Domains Protein: ENSMUSP00000115676
Gene: ENSMUSG00000021235

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
SCOP:d1foha5 39 269 1e-10 SMART
PDB:4K22|B 94 274 1e-20 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000120942
SMART Domains Protein: ENSMUSP00000112516
Gene: ENSMUSG00000021236

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
Pfam:GDA1_CD39 41 426 3.5e-76 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ubiH/COQ6 family. It is an evolutionarily conserved monooxygenase required for the biosynthesis of coenzyme Q10 (or ubiquinone), which is an essential component of the mitochondrial electron transport chain, and one of the most potent lipophilic antioxidants implicated in the protection of cell damage by reactive oxygen species. Knockdown of this gene in mouse and zebrafish results in decreased growth due to increased apoptosis. Mutations in this gene are associated with autosomal recessive coenzyme Q10 deficiency-6 (COQ10D6), which manifests as nephrotic syndrome with sensorineural deafness. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Jun 2012]
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl G A 3: 116,545,827 (GRCm39) S1323L possibly damaging Het
Ahnak T A 19: 8,994,203 (GRCm39) C5162* probably null Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cfap73 T C 5: 120,770,654 (GRCm39) K39E possibly damaging Het
Dlc1 C T 8: 37,041,282 (GRCm39) E1316K possibly damaging Het
Dscam A G 16: 96,510,309 (GRCm39) probably null Het
Eya2 T A 2: 165,566,700 (GRCm39) N250K probably benign Het
Fat4 A G 3: 38,943,320 (GRCm39) I738V probably benign Het
Gria2 T G 3: 80,614,969 (GRCm39) probably benign Het
Hnrnph3 A T 10: 62,852,247 (GRCm39) D238E probably damaging Het
Il1rn T C 2: 24,239,557 (GRCm39) L151P probably damaging Het
Kctd19 G A 8: 106,109,581 (GRCm39) probably benign Het
Kdm1a T C 4: 136,309,347 (GRCm39) probably null Het
Klk14 G A 7: 43,341,501 (GRCm39) C51Y probably damaging Het
Lamc1 C A 1: 153,110,298 (GRCm39) G1126W probably damaging Het
Magi3 C A 3: 103,923,184 (GRCm39) G1178* probably null Het
Man2a2 T C 7: 80,018,367 (GRCm39) D141G probably damaging Het
Map2k1 C A 9: 64,119,925 (GRCm39) V127L probably damaging Het
Memo1 T C 17: 74,562,293 (GRCm39) probably null Het
Mxd3 A G 13: 55,477,167 (GRCm39) S31P probably benign Het
Myo5b G A 18: 74,847,920 (GRCm39) E1053K probably benign Het
Nup50l T C 6: 96,142,733 (GRCm39) T104A probably benign Het
Or2m12 A C 16: 19,104,714 (GRCm39) F260V probably damaging Het
Or51a5 G T 7: 102,771,867 (GRCm39) Y37* probably null Het
Pex5l A G 3: 33,061,336 (GRCm39) I171T probably damaging Het
Plag1 A G 4: 3,905,654 (GRCm39) V12A probably benign Het
Podn C A 4: 107,878,893 (GRCm39) V180L possibly damaging Het
Prox2 T A 12: 85,141,698 (GRCm39) R168S probably benign Het
Prss29 A G 17: 25,541,231 (GRCm39) Y225C probably damaging Het
Rassf2 G A 2: 131,847,314 (GRCm39) T97I probably benign Het
Samm50 T C 15: 84,081,213 (GRCm39) V47A probably damaging Het
Shroom3 G T 5: 93,090,945 (GRCm39) V1151F probably damaging Het
Slc20a2 G A 8: 23,051,365 (GRCm39) R466Q probably benign Het
Slc25a51 C T 4: 45,399,768 (GRCm39) V141M probably benign Het
St6galnac3 A C 3: 152,912,360 (GRCm39) V161G probably benign Het
Unc5c T C 3: 141,420,435 (GRCm39) I52T probably damaging Het
Vat1l A G 8: 114,932,523 (GRCm39) E23G probably damaging Het
Vmn2r91 A G 17: 18,356,030 (GRCm39) T566A probably benign Het
Wls A T 3: 159,639,902 (GRCm39) H511L probably benign Het
Zfp644 G A 5: 106,782,984 (GRCm39) T1130I probably damaging Het
Other mutations in Coq6
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0508:Coq6 UTSW 12 84,414,913 (GRCm39) splice site probably benign
R0607:Coq6 UTSW 12 84,415,412 (GRCm39) missense possibly damaging 0.95
R1221:Coq6 UTSW 12 84,418,301 (GRCm39) missense possibly damaging 0.96
R1885:Coq6 UTSW 12 84,419,238 (GRCm39) missense probably damaging 1.00
R1898:Coq6 UTSW 12 84,413,737 (GRCm39) missense probably benign 0.38
R3153:Coq6 UTSW 12 84,418,309 (GRCm39) missense probably damaging 1.00
R3824:Coq6 UTSW 12 84,419,189 (GRCm39) splice site probably benign
R4015:Coq6 UTSW 12 84,413,671 (GRCm39) missense probably benign 0.00
R4241:Coq6 UTSW 12 84,420,563 (GRCm39) utr 3 prime probably benign
R4353:Coq6 UTSW 12 84,414,923 (GRCm39) missense probably damaging 0.99
R4598:Coq6 UTSW 12 84,408,913 (GRCm39) missense probably benign 0.00
R4599:Coq6 UTSW 12 84,408,913 (GRCm39) missense probably benign 0.00
R4868:Coq6 UTSW 12 84,417,726 (GRCm39) missense probably damaging 0.99
R4887:Coq6 UTSW 12 84,419,070 (GRCm39) missense probably damaging 1.00
R5567:Coq6 UTSW 12 84,415,413 (GRCm39) missense probably benign 0.10
R5570:Coq6 UTSW 12 84,415,413 (GRCm39) missense probably benign 0.10
R5715:Coq6 UTSW 12 84,413,681 (GRCm39) missense probably benign 0.10
R6608:Coq6 UTSW 12 84,418,922 (GRCm39) missense probably benign 0.00
R7035:Coq6 UTSW 12 84,415,415 (GRCm39) missense probably damaging 0.99
R7096:Coq6 UTSW 12 84,408,595 (GRCm39) critical splice donor site probably null
R7851:Coq6 UTSW 12 84,418,929 (GRCm39) missense possibly damaging 0.57
R7908:Coq6 UTSW 12 84,417,940 (GRCm39) missense probably damaging 1.00
R9432:Coq6 UTSW 12 84,420,464 (GRCm39) missense probably benign 0.01
Z1176:Coq6 UTSW 12 84,417,737 (GRCm39) missense possibly damaging 0.78
Predicted Primers PCR Primer
(F):5'- AGAGACCCTGCTTTTAGATCAC -3'
(R):5'- AAGCTGGCCCATGAGATTGC -3'

Sequencing Primer
(F):5'- AGACCCTGCTTTTAGATCACTTACAG -3'
(R):5'- CCCATGAGATTGCTTCTAGTACAGG -3'
Posted On 2015-06-20