Incidental Mutation 'R9292:Coq10b'
ID 704312
Institutional Source Beutler Lab
Gene Symbol Coq10b
Ensembl Gene ENSMUSG00000025981
Gene Name coenzyme Q10B
Synonyms 9530077A17Rik, 1700030I21Rik, 1500041J02Rik
MMRRC Submission
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.289) question?
Stock # R9292 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 55052770-55072702 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 55071709 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 212 (M212K)
Ref Sequence ENSEMBL: ENSMUSP00000027125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027125] [ENSMUST00000087617]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000027125
AA Change: M212K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000027125
Gene: ENSMUSG00000025981
AA Change: M212K

DomainStartEndE-ValueType
Pfam:Polyketide_cyc 88 217 2.7e-25 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000087617
AA Change: M162K

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000084899
Gene: ENSMUSG00000025981
AA Change: M162K

DomainStartEndE-ValueType
Pfam:Polyketide_cyc 38 167 4.7e-25 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 100% (58/58)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,812,843 T175I probably benign Het
Acat3 T C 17: 12,927,368 T243A probably benign Het
Aebp1 C A 11: 5,865,260 P264Q possibly damaging Het
Aldh1l1 T C 6: 90,591,885 F723L probably damaging Het
Atp13a4 T A 16: 29,422,682 I723F Het
Bop1 T C 15: 76,466,831 T97A probably benign Het
Casq1 T C 1: 172,215,547 Y194C probably damaging Het
Cep250 G A 2: 155,990,768 E1538K probably damaging Het
Col12a1 A T 9: 79,678,523 V1218E probably benign Het
Dchs1 T C 7: 105,753,913 T3141A probably damaging Het
Dnajc10 A G 2: 80,346,572 T624A probably benign Het
Dock8 A G 19: 25,183,631 probably benign Het
Dsg1c T A 18: 20,283,718 V892E probably damaging Het
Eif4g3 A G 4: 138,194,071 R1370G possibly damaging Het
Elmo1 T G 13: 20,600,259 probably null Het
Erc2 T A 14: 27,776,842 I225N probably damaging Het
Ermp1 C A 19: 29,628,649 V422L probably benign Het
Fam124b T A 1: 80,213,504 H54L probably benign Het
Gabbr1 T G 17: 37,055,892 I336S possibly damaging Het
Galk2 T C 2: 125,975,298 Y336H probably damaging Het
Gm40460 CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 142,240,817 probably benign Het
Grm4 A G 17: 27,473,063 F194S probably damaging Het
Gtf2a1 G A 12: 91,568,190 Q189* probably null Het
Gtf3c1 T C 7: 125,674,391 probably benign Het
Hspa2 A G 12: 76,405,273 E247G probably damaging Het
Lpar1 T C 4: 58,486,558 R238G probably benign Het
Ltbp1 C A 17: 75,276,441 S412Y probably damaging Het
Nup210 A C 6: 91,074,253 S383A possibly damaging Het
Olfr218 C T 1: 173,203,532 P59S probably damaging Het
Olfr744 T C 14: 50,619,056 V278A possibly damaging Het
Olfr916 T A 9: 38,657,775 N206Y probably damaging Het
Pah T A 10: 87,567,356 Y198N probably damaging Het
Pcdhga4 A T 18: 37,686,660 I421L probably benign Het
Pde6b T C 5: 108,388,885 I149T probably benign Het
Peli3 G A 19: 4,938,089 P81L possibly damaging Het
Pfdn5 T C 15: 102,326,448 S30P possibly damaging Het
Plcb3 A T 19: 6,964,674 L263Q probably damaging Het
Pld3 T C 7: 27,539,454 M190V probably benign Het
Rab6a A G 7: 100,636,756 E186G probably benign Het
Ralyl T A 3: 14,107,252 D60E probably benign Het
Rtl1 G A 12: 109,590,239 A1722V possibly damaging Het
Scarf1 T C 11: 75,515,180 Y97H probably damaging Het
Sf3a2 T A 10: 80,804,726 V457E unknown Het
Sh2d4b C G 14: 40,815,957 E403Q probably damaging Het
Slc12a7 A G 13: 73,784,588 E65G possibly damaging Het
Spink5 T C 18: 44,015,008 V905A possibly damaging Het
Spred1 T C 2: 117,175,351 F198S probably benign Het
St18 C A 1: 6,827,882 T636K probably benign Het
Stag3 T A 5: 138,301,450 D874E probably benign Het
Suco T C 1: 161,844,005 T502A probably damaging Het
Swt1 T C 1: 151,403,036 I457V probably benign Het
Syne2 G T 12: 75,951,049 C2266F probably benign Het
Tcirg1 T C 19: 3,897,840 N532D probably damaging Het
Tfdp1 T A 8: 13,370,580 N136K probably benign Het
Tmem245 T C 4: 56,937,979 I190V probably benign Het
Tmem245 T C 4: 56,926,173 probably benign Het
Trp53bp1 C T 2: 121,215,696 V1208M probably damaging Het
Tulp1 T A 17: 28,363,764 K137* probably null Het
Zfp534 A T 4: 147,674,638 C525S probably damaging Het
Other mutations in Coq10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Coq10b APN 1 55061309 missense probably benign
IGL00697:Coq10b APN 1 55061265 splice site probably null
R1517:Coq10b UTSW 1 55064257 missense probably damaging 1.00
R1751:Coq10b UTSW 1 55061354 missense probably damaging 0.99
R1767:Coq10b UTSW 1 55061354 missense probably damaging 0.99
R2195:Coq10b UTSW 1 55061298 missense probably damaging 1.00
R2421:Coq10b UTSW 1 55052977 missense probably benign 0.00
R4796:Coq10b UTSW 1 55071798 missense probably damaging 1.00
R4851:Coq10b UTSW 1 55071744 missense probably benign 0.13
R5367:Coq10b UTSW 1 55052984 missense probably benign
R5534:Coq10b UTSW 1 55064200 missense possibly damaging 0.83
R5979:Coq10b UTSW 1 55052918 missense probably benign 0.00
R7402:Coq10b UTSW 1 55061341 missense probably benign 0.00
R7836:Coq10b UTSW 1 55052854 start gained probably benign
R7931:Coq10b UTSW 1 55052993 splice site probably benign
R9426:Coq10b UTSW 1 55067560 missense possibly damaging 0.46
Predicted Primers PCR Primer
(F):5'- CTCCAAGTAACTGGACCTCG -3'
(R):5'- TCAACAGATGGTAAAAGGACTTCC -3'

Sequencing Primer
(F):5'- ATACTAGGCTAGTGGTGAATCCCC -3'
(R):5'- TTCCTAGAAGTGAACAAACTAGCC -3'
Posted On 2022-03-25