Incidental Mutation 'IGL03229:Coq4'
ID413831
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coq4
Ensembl Gene ENSMUSG00000026798
Gene Namecoenzyme Q4
SynonymsD2Ertd97e, EST-MNCb4625
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03229
Quality Score
Status
Chromosome2
Chromosomal Location29787493-29797935 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 29788485 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 41 (D41G)
Ref Sequence ENSEMBL: ENSMUSP00000135687 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028137] [ENSMUST00000048044] [ENSMUST00000113807] [ENSMUST00000143616] [ENSMUST00000148791] [ENSMUST00000156846] [ENSMUST00000176312] [ENSMUST00000176348] [ENSMUST00000177133] [ENSMUST00000177467]
Predicted Effect probably benign
Transcript: ENSMUST00000028137
AA Change: D41G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028137
Gene: ENSMUSG00000026798
AA Change: D41G

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 noncoding transcript
Transcript: ENSMUST00000113803
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 noncoding transcript
Transcript: ENSMUST00000142694
Predicted Effect probably benign
Transcript: ENSMUST00000143616
AA Change: D41G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000120160
Gene: ENSMUSG00000026798
AA Change: D41G

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: D41G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116944
Gene: ENSMUSG00000026798
AA Change: D41G

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 noncoding transcript
Transcript: ENSMUST00000175644
Predicted Effect probably benign
Transcript: ENSMUST00000176312
Predicted Effect probably benign
Transcript: ENSMUST00000176348
AA Change: D41G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135687
Gene: ENSMUSG00000026798
AA Change: D41G

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
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 T C 5: 8,940,936 I832T probably damaging Het
Adcyap1r1 T C 6: 55,478,123 S124P probably damaging Het
Cpb1 A T 3: 20,249,837 Y354* probably null Het
Dip2b T C 15: 100,207,838 probably benign Het
Dmxl2 C T 9: 54,404,172 R1755H probably damaging Het
Dyrk4 G T 6: 126,886,642 probably benign Het
E2f7 T C 10: 110,754,346 V120A probably benign Het
Fsip2 A T 2: 82,978,076 I1580F possibly damaging Het
Gm7030 C T 17: 36,127,722 G259E probably damaging Het
Gm9755 C A 8: 67,514,672 noncoding transcript Het
Gprc6a T G 10: 51,616,603 N480T probably damaging Het
Hdlbp T C 1: 93,430,187 I331V probably benign Het
Heatr6 G T 11: 83,781,445 G1093V probably benign Het
Hist2h2ac C T 3: 96,220,637 A70T probably damaging Het
Kri1 T C 9: 21,282,070 E162G probably damaging Het
Nckipsd T C 9: 108,811,614 V116A probably benign Het
Nek10 A G 14: 14,986,686 H997R probably benign Het
Nov A G 15: 54,749,308 T238A probably benign Het
Nxph1 A G 6: 9,247,830 Y267C probably damaging Het
Olfr1090 A T 2: 86,754,016 C241S probably damaging Het
Olfr294 T C 7: 86,616,078 D189G probably benign Het
Ppip5k2 A T 1: 97,728,961 V829E probably damaging Het
Prkcz A C 4: 155,262,506 S573A probably benign Het
Prl2c1 T A 13: 27,856,629 probably benign Het
Rgs22 T A 15: 36,015,779 probably benign Het
Scn1a T A 2: 66,299,713 I1253F probably damaging Het
Tarm1 A G 7: 3,496,897 C146R probably damaging Het
Tor2a A T 2: 32,759,692 I189F probably damaging Het
Trappc9 A T 15: 73,058,456 L17Q probably damaging Het
Trim45 T A 3: 100,923,069 L53Q probably damaging Het
Ubr7 T C 12: 102,769,155 L291P probably damaging Het
Unc79 T C 12: 103,134,539 V1878A probably damaging Het
Wdr90 T C 17: 25,845,463 probably benign Het
Xpnpep1 T C 19: 53,025,380 H42R probably benign Het
Zfp750 G A 11: 121,512,952 H366Y possibly damaging Het
Zmynd11 A G 13: 9,689,565 C462R probably damaging Het
Other mutations in Coq4
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
X0064:Coq4 UTSW 2 29789908 missense possibly damaging 0.95
Z1176:Coq4 UTSW 2 29795449 missense probably null 1.00
Posted On2016-08-02