Incidental Mutation 'R0508:Coq6'
ID 47742
Institutional Source Beutler Lab
Gene Symbol Coq6
Ensembl Gene ENSMUSG00000021235
Gene Name coenzyme Q6 monooxygenase
Synonyms 5930427M12Rik
MMRRC Submission 038703-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0508 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 84408530-84420570 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to T at 84414913 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021661] [ENSMUST00000110276] [ENSMUST00000110278] [ENSMUST00000152913]
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: 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: ENSMUST00000124257
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126913
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 noncoding transcript
Transcript: ENSMUST00000150391
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156592
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153450
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.1%
  • 20x: 92.0%
Validation Efficiency 99% (67/68)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik T C 12: 71,211,162 (GRCm39) L632P probably damaging Het
4833439L19Rik A G 13: 54,700,863 (GRCm39) probably null Het
Abca4 T C 3: 121,917,200 (GRCm39) probably benign Het
Adamts10 G T 17: 33,762,692 (GRCm39) G557V probably damaging Het
Adgrg6 T C 10: 14,326,360 (GRCm39) H424R probably benign Het
Ano4 T C 10: 88,816,839 (GRCm39) Q623R probably damaging Het
Ap1g1 T A 8: 110,564,364 (GRCm39) probably benign Het
Ap3b1 T C 13: 94,702,222 (GRCm39) S1092P unknown Het
Arhgap32 A T 9: 32,101,364 (GRCm39) probably benign Het
Arhgap40 A T 2: 158,388,670 (GRCm39) S535C probably damaging Het
Atp9a T C 2: 168,491,446 (GRCm39) probably null Het
Bicral A T 17: 47,136,327 (GRCm39) H294Q possibly damaging Het
Ccdc121rt3 T C 5: 112,502,685 (GRCm39) K340E probably damaging Het
Cdhr5 T A 7: 140,852,812 (GRCm39) H58L probably benign Het
Cenpt T C 8: 106,576,147 (GRCm39) E100G possibly damaging Het
Cep97 A G 16: 55,750,969 (GRCm39) S16P probably benign Het
Clec2i T A 6: 128,870,663 (GRCm39) V67D probably damaging Het
Col22a1 A G 15: 71,805,262 (GRCm39) L146P unknown Het
Cyp1a1 A G 9: 57,607,588 (GRCm39) Q72R probably benign Het
Ep400 A G 5: 110,887,374 (GRCm39) S570P probably benign Het
Erbin T C 13: 103,970,535 (GRCm39) N1027S probably damaging Het
Exog T A 9: 119,277,444 (GRCm39) probably benign Het
Fahd1 A C 17: 25,068,975 (GRCm39) V34G probably benign Het
Fetub C T 16: 22,748,045 (GRCm39) R74W probably benign Het
Fhip2a T A 19: 57,367,174 (GRCm39) L239Q probably benign Het
Frmpd1 G A 4: 45,284,938 (GRCm39) G1253D unknown Het
Galnt12 A G 4: 47,104,255 (GRCm39) D171G probably damaging Het
Gm973 G T 1: 59,621,649 (GRCm39) probably benign Het
Hdlbp C A 1: 93,342,533 (GRCm39) probably null Het
Il1rl1 T A 1: 40,490,877 (GRCm39) I386N possibly damaging Het
Itgav T C 2: 83,623,002 (GRCm39) probably benign Het
Magoh A C 4: 107,742,195 (GRCm39) K114Q possibly damaging Het
Mdfic2 T C 6: 98,215,005 (GRCm39) probably benign Het
Mki67 A T 7: 135,302,075 (GRCm39) D986E probably benign Het
Muc4 G A 16: 32,570,131 (GRCm39) S397N possibly damaging Het
Nckap5 T C 1: 125,909,121 (GRCm39) probably null Het
Neu1 A G 17: 35,151,760 (GRCm39) I185V probably benign Het
Nkiras1 T A 14: 18,278,524 (GRCm38) D79E probably damaging Het
Nkx3-1 A G 14: 69,428,350 (GRCm39) E66G probably benign Het
Or51a5 A T 7: 102,771,193 (GRCm39) I262N possibly damaging Het
Osbpl11 T A 16: 33,016,465 (GRCm39) N73K probably benign Het
Otulin C T 15: 27,608,944 (GRCm39) V2I possibly damaging Het
Pdss2 CGGAG CG 10: 43,097,927 (GRCm39) probably benign Het
Pld2 T C 11: 70,443,368 (GRCm39) M421T probably damaging Het
Rgs11 A G 17: 26,426,443 (GRCm39) probably benign Het
Rrad A T 8: 105,356,500 (GRCm39) D133E possibly damaging Het
Scaf11 A G 15: 96,318,368 (GRCm39) S399P probably damaging Het
Sccpdh A G 1: 179,508,080 (GRCm39) probably null Het
Scn2a A G 2: 65,548,186 (GRCm39) E1126G probably damaging Het
Selenop T G 15: 3,305,202 (GRCm39) D119E probably benign Het
Serpinb3c T A 1: 107,204,651 (GRCm39) S32C probably damaging Het
Serpine1 C A 5: 137,093,770 (GRCm39) K315N probably benign Het
Slc27a1 T C 8: 72,032,872 (GRCm39) probably benign Het
Slc4a8 G A 15: 100,686,973 (GRCm39) R259Q probably benign Het
Smtnl2 C T 11: 72,293,962 (GRCm39) R198Q probably damaging Het
Spta1 A C 1: 174,052,023 (GRCm39) Y1819S probably damaging Het
Stard3 T A 11: 98,263,140 (GRCm39) I65N probably damaging Het
Tfrc T C 16: 32,448,997 (GRCm39) L712P probably damaging Het
Tmem201 G A 4: 149,816,343 (GRCm39) R62C probably damaging Het
Trim5 A T 7: 103,914,811 (GRCm39) F410L probably null Het
Txndc2 T A 17: 65,944,948 (GRCm39) I410F probably benign Het
Urb1 C T 16: 90,580,150 (GRCm39) probably benign Het
Vmn1r34 A T 6: 66,614,392 (GRCm39) F115L probably benign Het
Vnn1 T C 10: 23,770,910 (GRCm39) V46A probably benign Het
Xrn1 T A 9: 95,933,789 (GRCm39) S1615R probably benign Het
Zfand4 T A 6: 116,262,828 (GRCm39) C118S probably damaging Het
Zfp952 G A 17: 33,221,979 (GRCm39) E115K possibly damaging Het
Zfpm1 T C 8: 123,061,872 (GRCm39) F368L probably damaging Het
Other mutations in Coq6
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4285:Coq6 UTSW 12 84,417,178 (GRCm39) intron 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'- ACCTGAGAGAGGAAGGACCTTGTC -3'
(R):5'- ATGTCATCCAGGTTGTCCCTGTCG -3'

Sequencing Primer
(F):5'- GAGGAAGGACCTTGTCCCTAAC -3'
(R):5'- acctgtgaccccaactcc -3'
Posted On 2013-06-12