Incidental Mutation 'R5943:Coq8b'
ID 460418
Institutional Source Beutler Lab
Gene Symbol Coq8b
Ensembl Gene ENSMUSG00000003762
Gene Name coenzyme Q8B
Synonyms 0610012P18Rik, Adck4
MMRRC Submission 044135-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5943 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 26932448-26957375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26933428 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 96 (F96L)
Ref Sequence ENSEMBL: ENSMUSP00000123309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003860] [ENSMUST00000108378] [ENSMUST00000128090]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000003860
AA Change: F96L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003860
Gene: ENSMUSG00000003762
AA Change: F96L

DomainStartEndE-ValueType
low complexity region 93 109 N/A INTRINSIC
Pfam:ABC1 198 314 4.9e-34 PFAM
low complexity region 348 364 N/A INTRINSIC
low complexity region 474 483 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108378
AA Change: F96L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000104015
Gene: ENSMUSG00000003762
AA Change: F96L

DomainStartEndE-ValueType
low complexity region 93 109 N/A INTRINSIC
Pfam:ABC1 198 314 4.4e-34 PFAM
low complexity region 348 364 N/A INTRINSIC
low complexity region 474 483 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000128090
AA Change: F96L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123309
Gene: ENSMUSG00000003762
AA Change: F96L

DomainStartEndE-ValueType
low complexity region 93 109 N/A INTRINSIC
Pfam:ABC1 198 304 3.4e-32 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 93.1%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two copies of a domain found in protein kinases. The encoded protein has a complete protein kinase catalytic domain, and a truncated domain that contains only the active and binding sites of the protein kinase domain, however, it is not known whether the protein has any kinase activity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars2 C A 17: 45,828,637 (GRCm39) Q671K probably benign Het
Acaa2 A G 18: 74,925,453 (GRCm39) H72R probably damaging Het
Acad8 A G 9: 26,910,740 (GRCm39) L18P probably benign Het
Acap3 T C 4: 155,983,879 (GRCm39) V115A possibly damaging Het
Adamts9 T C 6: 92,880,767 (GRCm39) T503A probably benign Het
Adcy1 T C 11: 7,111,337 (GRCm39) F876S probably damaging Het
Adgrv1 T C 13: 81,534,985 (GRCm39) E5760G probably damaging Het
Ankrd26 A T 6: 118,482,707 (GRCm39) I1631K probably damaging Het
Ccdc150 A G 1: 54,339,526 (GRCm39) T457A probably benign Het
Cd163 T C 6: 124,306,561 (GRCm39) *1160R probably null Het
Cdc6 T C 11: 98,811,589 (GRCm39) S517P probably damaging Het
Cenpf A T 1: 189,392,166 (GRCm39) D555E possibly damaging Het
Cfap251 A G 5: 123,424,420 (GRCm39) T205A probably benign Het
Clcn1 T A 6: 42,269,900 (GRCm39) I241N probably damaging Het
Clrn2 A T 5: 45,621,061 (GRCm39) I152F probably benign Het
Col4a4 A G 1: 82,502,737 (GRCm39) I349T unknown Het
Cp A T 3: 20,018,470 (GRCm39) N58I probably benign Het
Dcst1 A T 3: 89,263,718 (GRCm39) probably null Het
Dhrs3 A T 4: 144,646,546 (GRCm39) M199L possibly damaging Het
Dido1 A T 2: 180,303,675 (GRCm39) S1410T probably benign Het
Dnase1l2 C T 17: 24,661,721 (GRCm39) A13T probably damaging Het
Duox1 G A 2: 122,163,916 (GRCm39) R861Q probably benign Het
Eya2 A G 2: 165,566,609 (GRCm39) H220R probably damaging Het
Fas T G 19: 34,297,987 (GRCm39) probably null Het
Fezf1 T A 6: 23,246,948 (GRCm39) K295* probably null Het
Gldn T G 9: 54,245,721 (GRCm39) I424R possibly damaging Het
Gnptab T C 10: 88,269,376 (GRCm39) V693A probably benign Het
Gsdma A T 11: 98,563,852 (GRCm39) T269S probably benign Het
Hectd4 A T 5: 121,460,357 (GRCm39) T2209S probably benign Het
Hoxd3 A G 2: 74,577,173 (GRCm39) N351S probably benign Het
Itpkc T A 7: 26,912,404 (GRCm39) N581I possibly damaging Het
Kank3 G T 17: 34,037,375 (GRCm39) E226D probably damaging Het
Krtap5-1 A G 7: 141,850,788 (GRCm39) S7P unknown Het
Lrriq3 A G 3: 154,869,587 (GRCm39) Y304C probably damaging Het
Man2a1 A G 17: 64,932,375 (GRCm39) K154R probably benign Het
Mdn1 T C 4: 32,678,330 (GRCm39) S653P probably damaging Het
Mri1 A T 8: 84,980,948 (GRCm39) L194* probably null Het
Mtus1 T C 8: 41,537,302 (GRCm39) E138G probably benign Het
Myo3b G A 2: 70,117,285 (GRCm39) R906Q probably benign Het
Nckipsd C T 9: 108,689,435 (GRCm39) P199S possibly damaging Het
Or52n5 T A 7: 104,587,850 (GRCm39) I39N possibly damaging Het
Or9i16 C T 19: 13,865,116 (GRCm39) V153I possibly damaging Het
Pacsin1 T C 17: 27,925,045 (GRCm39) L253P probably damaging Het
Pcca T A 14: 122,896,188 (GRCm39) I268N probably damaging Het
Pcdhga8 A G 18: 37,949,565 (GRCm39) D327G probably damaging Het
Pcnx4 A G 12: 72,626,232 (GRCm39) H1146R probably damaging Het
Pnma8b T C 7: 16,680,362 (GRCm39) S449P probably benign Het
Psmb9 T C 17: 34,403,265 (GRCm39) E61G probably damaging Het
Pxylp1 A G 9: 96,721,203 (GRCm39) Y101H probably damaging Het
Radil A G 5: 142,471,213 (GRCm39) I1044T probably damaging Het
Rnf43 G A 11: 87,622,561 (GRCm39) R554H probably damaging Het
Sp5 A T 2: 70,305,659 (GRCm39) Q17L probably null Het
Spmip1 T A 6: 29,471,908 (GRCm39) L128Q possibly damaging Het
Strn C A 17: 78,977,276 (GRCm39) V211F probably damaging Het
Sult3a1 A G 10: 33,742,637 (GRCm39) D88G probably damaging Het
Trim14 T C 4: 46,522,136 (GRCm39) I180M probably benign Het
Tsnax C A 8: 125,751,278 (GRCm39) S90* probably null Het
Ttn A G 2: 76,798,780 (GRCm39) M498T probably benign Het
Vmn1r198 T A 13: 22,539,367 (GRCm39) Y195* probably null Het
Vmn2r70 T C 7: 85,215,199 (GRCm39) T112A probably benign Het
Wwc2 T C 8: 48,443,137 (GRCm39) N32S possibly damaging Het
Yme1l1 G T 2: 23,058,342 (GRCm39) R158L probably damaging Het
Zc2hc1c C A 12: 85,336,483 (GRCm39) H47N probably damaging Het
Zc3h10 C A 10: 128,381,396 (GRCm39) probably benign Het
Zfp825 T C 13: 74,629,007 (GRCm39) R170G probably benign Het
Other mutations in Coq8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Coq8b APN 7 26,956,902 (GRCm39) missense probably benign
IGL01116:Coq8b APN 7 26,939,282 (GRCm39) missense possibly damaging 0.82
IGL01123:Coq8b APN 7 26,939,509 (GRCm39) missense probably damaging 1.00
IGL02949:Coq8b APN 7 26,956,038 (GRCm39) missense possibly damaging 0.70
R0067:Coq8b UTSW 7 26,932,906 (GRCm39) missense possibly damaging 0.87
R0690:Coq8b UTSW 7 26,941,674 (GRCm39) missense probably benign 0.15
R1307:Coq8b UTSW 7 26,950,016 (GRCm39) missense probably damaging 1.00
R1470:Coq8b UTSW 7 26,951,734 (GRCm39) missense probably benign 0.10
R1470:Coq8b UTSW 7 26,951,734 (GRCm39) missense probably benign 0.10
R1551:Coq8b UTSW 7 26,956,907 (GRCm39) missense probably damaging 1.00
R1682:Coq8b UTSW 7 26,939,549 (GRCm39) missense probably benign 0.00
R1895:Coq8b UTSW 7 26,939,299 (GRCm39) missense possibly damaging 0.91
R1945:Coq8b UTSW 7 26,933,406 (GRCm39) small insertion probably benign
R1945:Coq8b UTSW 7 26,933,405 (GRCm39) small insertion probably benign
R1946:Coq8b UTSW 7 26,939,299 (GRCm39) missense possibly damaging 0.91
R2069:Coq8b UTSW 7 26,956,802 (GRCm39) missense probably damaging 1.00
R3758:Coq8b UTSW 7 26,941,652 (GRCm39) nonsense probably null
R4545:Coq8b UTSW 7 26,932,930 (GRCm39) missense probably benign 0.45
R4838:Coq8b UTSW 7 26,950,016 (GRCm39) missense probably damaging 1.00
R5181:Coq8b UTSW 7 26,951,747 (GRCm39) missense possibly damaging 0.65
R5345:Coq8b UTSW 7 26,949,773 (GRCm39) missense probably benign
R5806:Coq8b UTSW 7 26,950,050 (GRCm39) nonsense probably null
R6005:Coq8b UTSW 7 26,956,750 (GRCm39) nonsense probably null
R7028:Coq8b UTSW 7 26,939,293 (GRCm39) missense probably damaging 1.00
R7709:Coq8b UTSW 7 26,949,962 (GRCm39) missense probably damaging 0.98
R8300:Coq8b UTSW 7 26,941,671 (GRCm39) missense possibly damaging 0.72
R9039:Coq8b UTSW 7 26,950,011 (GRCm39) missense probably benign 0.19
R9310:Coq8b UTSW 7 26,941,486 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCCCAGGTATCATTGCTTC -3'
(R):5'- TGCGGAACCTAAAGTCCTG -3'

Sequencing Primer
(F):5'- AGGTATCATTGCTTCCTCTTCC -3'
(R):5'- GGAACCTAAAGTCCTGCCACCTC -3'
Posted On 2017-02-28