Incidental Mutation 'R5190:Coq5'
ID398041
Institutional Source Beutler Lab
Gene Symbol Coq5
Ensembl Gene ENSMUSG00000041733
Gene Namecoenzyme Q5 methyltransferase
SynonymsD5Ertd33e, 1810014G04Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.966) question?
Stock #R5190 (G1)
Quality Score225
Status Not validated
Chromosome5
Chromosomal Location115279666-115296972 bp(+) (GRCm38)
Type of Mutationsplice site (3 bp from exon)
DNA Base Change (assembly) A to G at 115295780 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000048001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000009157] [ENSMUST00000040421] [ENSMUST00000040421] [ENSMUST00000112090]
Predicted Effect probably benign
Transcript: ENSMUST00000009157
SMART Domains Protein: ENSMUSP00000009157
Gene: ENSMUSG00000009013

DomainStartEndE-ValueType
Dynein_light 1 88 1.67e-59 SMART
Predicted Effect probably null
Transcript: ENSMUST00000040421
SMART Domains Protein: ENSMUSP00000048001
Gene: ENSMUSG00000041733

DomainStartEndE-ValueType
Pfam:Methyltransf_23 13 311 2.2e-8 PFAM
Pfam:Ubie_methyltran 59 326 1.4e-91 PFAM
Pfam:Methyltransf_31 104 305 3.4e-12 PFAM
Pfam:Methyltransf_25 110 240 1.3e-11 PFAM
Pfam:Methyltransf_11 150 244 4e-18 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000040421
SMART Domains Protein: ENSMUSP00000048001
Gene: ENSMUSG00000041733

DomainStartEndE-ValueType
Pfam:Methyltransf_23 13 311 2.2e-8 PFAM
Pfam:Ubie_methyltran 59 326 1.4e-91 PFAM
Pfam:Methyltransf_31 104 305 3.4e-12 PFAM
Pfam:Methyltransf_25 110 240 1.3e-11 PFAM
Pfam:Methyltransf_11 150 244 4e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000112090
SMART Domains Protein: ENSMUSP00000107720
Gene: ENSMUSG00000009013

DomainStartEndE-ValueType
Pfam:Dynein_light 1 89 5.4e-49 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000119600
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123292
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125959
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127552
Predicted Effect probably benign
Transcript: ENSMUST00000129024
SMART Domains Protein: ENSMUSP00000123308
Gene: ENSMUSG00000041733

DomainStartEndE-ValueType
Pfam:Ubie_methyltran 1 135 3.2e-28 PFAM
Pfam:Methyltransf_25 16 134 3.4e-9 PFAM
Pfam:Methyltransf_11 56 135 7.8e-10 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202980
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,164,546 E685* probably null Het
2700049A03Rik A T 12: 71,164,547 E685V possibly damaging Het
Abca7 T C 10: 79,999,593 probably null Het
Abca8a C T 11: 110,089,909 probably null Het
Ablim3 A G 18: 61,819,911 Y361H probably benign Het
Acan C T 7: 79,098,541 T1020I probably benign Het
Baat A G 4: 49,499,652 L218P probably damaging Het
Bcl11b C A 12: 107,989,716 C58F probably damaging Het
Cand2 G T 6: 115,789,513 A360S probably damaging Het
Cdh2 A G 18: 16,650,315 V62A possibly damaging Het
Cep44 C T 8: 56,532,796 V354I probably benign Het
Col3a1 G A 1: 45,329,084 R309Q unknown Het
Col3a1 G A 1: 45,344,807 probably benign Het
Crtac1 A G 19: 42,333,908 I131T possibly damaging Het
Decr1 C T 4: 15,924,270 V217M probably damaging Het
Dnajc13 A G 9: 104,174,525 V1706A probably benign Het
Dopey1 A G 9: 86,487,304 I63M probably damaging Het
F830045P16Rik T C 2: 129,472,715 D214G probably benign Het
Fam216a T A 5: 122,367,521 probably null Het
Fdxacb1 A C 9: 50,772,087 H248P possibly damaging Het
Gnai1 A T 5: 18,291,598 V109E probably benign Het
Helz2 A T 2: 181,230,757 probably null Het
Itgam T C 7: 128,116,317 probably null Het
Kcnh1 A G 1: 192,505,528 S766G probably benign Het
Klra1 C A 6: 130,375,278 C167F probably damaging Het
Krtap9-3 T A 11: 99,597,982 T25S probably benign Het
Mapk6 T C 9: 75,388,344 Y624C probably damaging Het
Olfr1123 A G 2: 87,418,843 Y263C probably damaging Het
Olfr1158 T A 2: 87,990,763 Y217* probably null Het
Olfr1393 T C 11: 49,280,382 V78A probably damaging Het
Olfr51 T G 11: 51,007,554 I194S probably damaging Het
Olfr677 C T 7: 105,056,453 S69L probably damaging Het
P3h2 A G 16: 25,984,949 S356P possibly damaging Het
Pde12 C T 14: 26,666,377 probably null Het
Rln3 T G 8: 84,043,237 K94N probably damaging Het
Skint5 T C 4: 113,763,514 I668V unknown Het
Slitrk5 C A 14: 111,679,420 Q159K probably damaging Het
Trim3 G T 7: 105,619,509 N79K probably damaging Het
Tyw1 T A 5: 130,267,915 C101* probably null Het
Ulk2 T C 11: 61,781,711 T934A probably benign Het
Unc5b T C 10: 60,772,293 Y687C probably benign Het
Vmn1r195 C T 13: 22,278,386 R9* probably null Het
Zfc3h1 T G 10: 115,418,692 L1397R probably damaging Het
Zfp296 T C 7: 19,577,407 V9A probably benign Het
Zfp423 T A 8: 87,782,463 S397C probably damaging Het
Other mutations in Coq5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02892:Coq5 APN 5 115294817 intron probably benign
R1474:Coq5 UTSW 5 115295783 splice site probably benign
R1672:Coq5 UTSW 5 115279916 critical splice donor site probably null
R1966:Coq5 UTSW 5 115294831 splice site probably null
R3815:Coq5 UTSW 5 115295898 missense probably damaging 1.00
R3834:Coq5 UTSW 5 115284576 missense probably damaging 1.00
R5182:Coq5 UTSW 5 115279756 missense probably benign 0.00
R5605:Coq5 UTSW 5 115283717 critical splice donor site probably null
R5743:Coq5 UTSW 5 115279882 missense probably benign 0.16
R8242:Coq5 UTSW 5 115279747 missense probably benign 0.02
R8524:Coq5 UTSW 5 115284553 missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- AGGAAATAAGCCCAGATCCTGC -3'
(R):5'- CAGTAGAAATGACTGGCCTGTG -3'

Sequencing Primer
(F):5'- TAAGCCCAGATCCTGCTTTAAATC -3'
(R):5'- TGACTGGCCTGTGTGCCAC -3'
Posted On2016-07-06