Incidental Mutation 'R7781:Coq7'
ID 599241
Institutional Source Beutler Lab
Gene Symbol Coq7
Ensembl Gene ENSMUSG00000030652
Gene Name demethyl-Q 7
Synonyms clk-1
MMRRC Submission 045837-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7781 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 118108881-118132529 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118125111 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 171 (I171N)
Ref Sequence ENSEMBL: ENSMUSP00000095695 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032887] [ENSMUST00000098090] [ENSMUST00000209146]
AlphaFold P97478
Predicted Effect probably damaging
Transcript: ENSMUST00000032887
AA Change: I171N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000032887
Gene: ENSMUSG00000030652
AA Change: I171N

low complexity region 3 10 N/A INTRINSIC
Pfam:COQ7 48 217 3.5e-78 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000098090
AA Change: I171N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000095695
Gene: ENSMUSG00000030652
AA Change: I171N

low complexity region 3 10 N/A INTRINSIC
Pfam:COQ7 48 210 5.9e-69 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000209146
AA Change: I171N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is similar to a mitochondrial di-iron containing hydroxylase in Saccharomyces cerevisiae that is involved with ubiquinone biosynthesis. Mutations in the yeast gene lead to slower development and longer life span. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for null mutations in this gene are embryonic lethal during mid-gestation with aborted neurogenesis and abnormal mitochondria. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700064H15Rik G A 3: 19,682,706 (GRCm39) P23S unknown Het
Abcc6 C T 7: 45,655,030 (GRCm39) R487Q probably damaging Het
Abl1 A T 2: 31,680,709 (GRCm39) T334S probably damaging Het
Adam6b T C 12: 113,454,962 (GRCm39) F593S probably damaging Het
Alx1 A T 10: 102,845,053 (GRCm39) M326K probably damaging Het
Ankhd1 A T 18: 36,758,258 (GRCm39) D984V probably damaging Het
Asb15 A G 6: 24,562,644 (GRCm39) N202S probably benign Het
Ate1 A T 7: 130,121,157 (GRCm39) V12E probably damaging Het
Atl2 A T 17: 80,167,260 (GRCm39) Y254N probably damaging Het
Atp13a5 A G 16: 29,116,226 (GRCm39) M630T probably benign Het
Atp5po A T 16: 91,723,417 (GRCm39) I124N possibly damaging Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bicdl1 T C 5: 115,799,546 (GRCm39) E181G probably damaging Het
Bnipl C A 3: 95,151,486 (GRCm39) W272L probably damaging Het
Catsperd A T 17: 56,971,072 (GRCm39) H712L probably benign Het
Cilp2 T C 8: 70,334,997 (GRCm39) D667G possibly damaging Het
Cntn4 A C 6: 106,500,575 (GRCm39) K351Q probably damaging Het
Csf2rb T A 15: 78,228,771 (GRCm39) F371I probably benign Het
Cyp3a13 C T 5: 137,897,136 (GRCm39) V393M possibly damaging Het
Dennd2a A G 6: 39,470,000 (GRCm39) V564A probably damaging Het
Ear14 T C 14: 51,441,468 (GRCm39) L108P probably damaging Het
Egflam C A 15: 7,283,227 (GRCm39) V277F probably null Het
Epb42 T G 2: 120,864,916 (GRCm39) K58N probably benign Het
Faap100 T C 11: 120,265,089 (GRCm39) M596V probably benign Het
Fbxw15 T A 9: 109,386,330 (GRCm39) T270S possibly damaging Het
Gabpb1 C T 2: 126,481,120 (GRCm39) C342Y possibly damaging Het
Gls A T 1: 52,251,492 (GRCm39) C288* probably null Het
Grm8 G T 6: 27,285,786 (GRCm39) D875E probably benign Het
Hdac4 C A 1: 91,903,387 (GRCm39) R514L probably benign Het
Hps4 T A 5: 112,518,388 (GRCm39) N460K probably benign Het
Inpp5d T C 1: 87,627,394 (GRCm39) F565S probably damaging Het
Kcnh5 C A 12: 75,023,455 (GRCm39) V538F probably damaging Het
Kcp T C 6: 29,497,764 (GRCm39) N499S probably damaging Het
Klk15 T C 7: 43,588,980 (GRCm39) L244S probably benign Het
Lamp3 A T 16: 19,518,440 (GRCm39) S266T possibly damaging Het
Lemd3 A G 10: 120,761,678 (GRCm39) F863L probably damaging Het
Mga T A 2: 119,747,838 (GRCm39) V663D probably damaging Het
Naa15 A G 3: 51,378,904 (GRCm39) probably null Het
Ndrg3 C A 2: 156,770,733 (GRCm39) G352* probably null Het
Nr2f6 G T 8: 71,828,595 (GRCm39) N233K possibly damaging Het
Or4a79 A G 2: 89,551,879 (GRCm39) F192S probably benign Het
Plxnb2 T A 15: 89,041,225 (GRCm39) M1774L possibly damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Rpl23a G A 11: 78,073,654 (GRCm39) R62W probably benign Het
Rubcnl A G 14: 75,269,530 (GRCm39) R63G probably damaging Het
Ryr1 T C 7: 28,767,055 (GRCm39) D2976G probably damaging Het
Siglec1 A G 2: 130,923,258 (GRCm39) Y496H probably damaging Het
Sipa1l2 A G 8: 126,218,566 (GRCm39) V257A possibly damaging Het
Slc24a4 T C 12: 102,201,112 (GRCm39) probably null Het
Slc4a1ap T C 5: 31,684,822 (GRCm39) S153P probably damaging Het
Slc4a4 A T 5: 89,376,791 (GRCm39) E1006V possibly damaging Het
Svep1 T G 4: 58,069,251 (GRCm39) E2845A possibly damaging Het
Tlr1 T C 5: 65,084,079 (GRCm39) N166S possibly damaging Het
Tmem231 C T 8: 112,644,922 (GRCm39) probably null Het
Tsc2 C A 17: 24,827,089 (GRCm39) L873F possibly damaging Het
Unc13b T G 4: 43,259,546 (GRCm39) S1403A possibly damaging Het
Vmn1r7 A G 6: 57,001,553 (GRCm39) F236L probably benign Het
Vmn2r111 T C 17: 22,789,714 (GRCm39) S431G probably benign Het
Wdr7 A T 18: 63,910,860 (GRCm39) K751* probably null Het
Wdr90 C T 17: 26,065,300 (GRCm39) R1652Q probably damaging Het
Zcchc2 T C 1: 105,931,895 (GRCm39) Y366H probably damaging Het
Zfp1005 A T 2: 150,109,577 (GRCm39) H89L possibly damaging Het
Zfp607a C T 7: 27,565,000 (GRCm39) R56C possibly damaging Het
Other mutations in Coq7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01639:Coq7 APN 7 118,124,527 (GRCm39) missense probably damaging 0.98
R0309:Coq7 UTSW 7 118,128,940 (GRCm39) missense possibly damaging 0.92
R0628:Coq7 UTSW 7 118,128,867 (GRCm39) missense probably damaging 1.00
R1459:Coq7 UTSW 7 118,109,260 (GRCm39) missense unknown
R1535:Coq7 UTSW 7 118,128,897 (GRCm39) missense possibly damaging 0.48
R1612:Coq7 UTSW 7 118,109,134 (GRCm39) missense unknown
R2519:Coq7 UTSW 7 118,109,371 (GRCm39) missense unknown
R4095:Coq7 UTSW 7 118,126,701 (GRCm39) critical splice acceptor site probably null
R4516:Coq7 UTSW 7 118,109,130 (GRCm39) missense unknown
R4972:Coq7 UTSW 7 118,109,340 (GRCm39) missense unknown
R5183:Coq7 UTSW 7 118,127,490 (GRCm39) intron probably benign
R5579:Coq7 UTSW 7 118,116,558 (GRCm39) missense unknown
R5619:Coq7 UTSW 7 118,126,709 (GRCm39) splice site probably benign
R5789:Coq7 UTSW 7 118,128,929 (GRCm39) missense possibly damaging 0.50
R6530:Coq7 UTSW 7 118,124,558 (GRCm39) missense probably benign 0.01
R6911:Coq7 UTSW 7 118,109,385 (GRCm39) missense unknown
R7212:Coq7 UTSW 7 118,109,271 (GRCm39) missense unknown
R7248:Coq7 UTSW 7 118,128,897 (GRCm39) missense probably benign 0.42
R7361:Coq7 UTSW 7 118,128,798 (GRCm39) missense probably benign 0.15
R8039:Coq7 UTSW 7 118,132,469 (GRCm39) missense possibly damaging 0.93
R8796:Coq7 UTSW 7 118,126,640 (GRCm39) missense probably damaging 0.96
R9166:Coq7 UTSW 7 118,109,365 (GRCm39) missense unknown
RF001:Coq7 UTSW 7 118,132,405 (GRCm39) missense probably benign 0.05
Z1177:Coq7 UTSW 7 118,109,372 (GRCm39) missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-11-26