Incidental Mutation 'R9459:Coq4'
ID 714738
Institutional Source Beutler Lab
Gene Symbol Coq4
Ensembl Gene ENSMUSG00000026798
Gene Name coenzyme Q4
Synonyms D2Ertd97e, EST-MNCb4625
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # R9459 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 29787493-29797935 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 29788550 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Asparagine at position 63 (Y63N)
Ref Sequence ENSEMBL: ENSMUSP00000028137 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028137] [ENSMUST00000048044] [ENSMUST00000113807] [ENSMUST00000143616] [ENSMUST00000148791] [ENSMUST00000156846] [ENSMUST00000176312] [ENSMUST00000176348] [ENSMUST00000177133] [ENSMUST00000177467]
AlphaFold Q8BGB8
Predicted Effect probably damaging
Transcript: ENSMUST00000028137
AA Change: Y63N

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028137
Gene: ENSMUSG00000026798
AA Change: Y63N

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Coq4 39 259 1.2e-98 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000048044
SMART Domains Protein: ENSMUSP00000041848
Gene: ENSMUSG00000039826

DomainStartEndE-ValueType
Pfam:TruB_N 84 233 1e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113807
SMART Domains Protein: ENSMUSP00000109438
Gene: ENSMUSG00000039826

DomainStartEndE-ValueType
Pfam:TruB_N 84 180 5.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143616
AA Change: Y63N

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000120160
Gene: ENSMUSG00000026798
AA Change: Y63N

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Coq4 39 135 2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148791
AA Change: Y63N

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000116944
Gene: ENSMUSG00000026798
AA Change: Y63N

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Coq4 39 200 6.9e-75 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000156846
Predicted Effect probably benign
Transcript: ENSMUST00000176312
Predicted Effect probably benign
Transcript: ENSMUST00000176348
AA Change: Y63N

PolyPhen 2 Score 0.314 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000135687
Gene: ENSMUSG00000026798
AA Change: Y63N

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:Coq4 39 135 2e-33 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177133
Predicted Effect probably benign
Transcript: ENSMUST00000177467
SMART Domains Protein: ENSMUSP00000135521
Gene: ENSMUSG00000039826

DomainStartEndE-ValueType
Pfam:TruB_N 84 187 3.2e-16 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a component of the coenzyme Q biosynthesis pathway. Coenzyme Q, an essential component of the electron transport chain, shuttles electrons between complexes I or II to complex III of the mitochondrial transport chain. This protein appears to play a structural role in stabilizing a complex that contains most of the coenzyme Q biosynthesis enzymes. Mutations in this gene are associated with mitochondrial disorders linked to coenzyme Q deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700020D05Rik T A 19: 5,503,729 H8L probably benign Het
Abcb1a T A 5: 8,685,414 probably null Het
Alms1 T A 6: 85,627,964 C2199S probably damaging Het
Aox3 A G 1: 58,150,309 I390V probably benign Het
Ap3b2 T C 7: 81,473,903 N400S probably benign Het
Baalc A T 15: 38,934,024 N70I probably benign Het
Brca2 T A 5: 150,540,629 V1286D probably damaging Het
Ccdc30 T C 4: 119,377,273 R81G possibly damaging Het
Cd209g T C 8: 4,135,610 S15P probably benign Het
Chrnb3 G A 8: 27,393,856 W207* probably null Het
Cmpk2 C T 12: 26,478,023 T413M probably damaging Het
Depdc5 T A 5: 32,990,773 S1478T probably damaging Het
Etf1 A G 18: 34,906,081 F378L probably benign Het
Exoc6 T C 19: 37,585,893 V324A probably benign Het
Frem2 A G 3: 53,653,486 L1200P probably benign Het
Gadl1 T C 9: 115,965,611 W285R probably damaging Het
Gbp3 A G 3: 142,564,946 probably null Het
Gm14295 C T 2: 176,807,372 T5I possibly damaging Het
Hps4 T C 5: 112,375,009 S578P probably benign Het
Kctd13 T A 7: 126,945,082 D317E probably damaging Het
Kdm4b T A 17: 56,399,509 D881E probably benign Het
Klf10 G A 15: 38,295,927 P473L probably damaging Het
Lrch3 A T 16: 32,979,405 D371V probably damaging Het
Msh2 T C 17: 87,678,330 S112P possibly damaging Het
Msh3 A G 13: 92,215,539 V1036A possibly damaging Het
Mybl1 A G 1: 9,676,259 V392A possibly damaging Het
Myo7a T C 7: 98,073,173 I1182V possibly damaging Het
Nectin1 A C 9: 43,803,793 E442A probably benign Het
Obsl1 G T 1: 75,498,240 H839N probably benign Het
Olfr1202 T C 2: 88,817,623 F151L probably benign Het
Olfr1505 T C 19: 13,919,310 C97R possibly damaging Het
Pacs1 C T 19: 5,145,070 probably null Het
Pcdh17 G T 14: 84,448,623 E843D probably benign Het
Pcnt A G 10: 76,392,738 L1531P probably damaging Het
Pdgfra A G 5: 75,192,468 D973G probably damaging Het
Pkd2 A G 5: 104,466,934 Y214C probably damaging Het
Plcb1 T C 2: 135,322,638 Y427H probably benign Het
Ppm1h A G 10: 122,907,577 N402S possibly damaging Het
Rassf4 T A 6: 116,641,788 probably null Het
Ryr1 G A 7: 29,068,643 T2856I probably damaging Het
Serpinb8 A T 1: 107,605,790 K192* probably null Het
Slfn14 T G 11: 83,279,372 Q482P possibly damaging Het
Spata2 A G 2: 167,485,285 V64A probably benign Het
Tax1bp1 T G 6: 52,729,329 V105G probably damaging Het
Tbc1d22a T G 15: 86,235,820 S142A possibly damaging Het
Tdrd9 T C 12: 112,025,573 F594S probably damaging Het
Uba3 T C 6: 97,189,598 I281V probably benign Het
Uggt2 T C 14: 119,049,183 E723G probably benign Het
Usp20 C T 2: 31,011,012 S391F probably damaging Het
Usp24 T A 4: 106,342,358 D166E probably damaging Het
Vmn1r1 A G 1: 182,157,938 V54A probably benign Het
Zfp442 T A 2: 150,408,748 E411D unknown Het
Zfp804a T C 2: 82,259,409 I1194T probably damaging Het
Other mutations in Coq4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03229:Coq4 APN 2 29788485 missense probably benign 0.00
R0605:Coq4 UTSW 2 29789998 nonsense probably null
R1184:Coq4 UTSW 2 29788334 unclassified probably benign
R1917:Coq4 UTSW 2 29789926 missense probably damaging 1.00
R4844:Coq4 UTSW 2 29796014 missense possibly damaging 0.82
R5587:Coq4 UTSW 2 29795514 splice site probably null
R5635:Coq4 UTSW 2 29788355 missense possibly damaging 0.73
R5886:Coq4 UTSW 2 29790614 unclassified probably benign
R6722:Coq4 UTSW 2 29788285 unclassified probably benign
R7548:Coq4 UTSW 2 29795408 missense possibly damaging 0.87
R8859:Coq4 UTSW 2 29795479 missense probably damaging 1.00
R9253:Coq4 UTSW 2 29795421 missense probably damaging 1.00
R9760:Coq4 UTSW 2 29788470 missense probably benign 0.02
X0064:Coq4 UTSW 2 29789908 missense possibly damaging 0.95
Z1176:Coq4 UTSW 2 29795449 missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- GCAGCTCTGATTCCAGTGTC -3'
(R):5'- CAGACTTGTAGACTTCACGTTTC -3'

Sequencing Primer
(F):5'- TCTGATTCCAGTGTCCGCGG -3'
(R):5'- TCCTCCCTGTGCCCAGAAG -3'
Posted On 2022-06-15