Incidental Mutation 'R1551:Coq8b'
ID 169921
Institutional Source Beutler Lab
Gene Symbol Coq8b
Ensembl Gene ENSMUSG00000003762
Gene Name coenzyme Q8B
Synonyms 0610012P18Rik, Adck4
MMRRC Submission 039590-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1551 (G1)
Quality Score 108
Status Not validated
Chromosome 7
Chromosomal Location 26932448-26957375 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 26956907 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 520 (Y520C)
Ref Sequence ENSEMBL: ENSMUSP00000104015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003860] [ENSMUST00000079258] [ENSMUST00000108378] [ENSMUST00000128090]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000003860
AA Change: Y520C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003860
Gene: ENSMUSG00000003762
AA Change: Y520C

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 benign
Transcript: ENSMUST00000079258
SMART Domains Protein: ENSMUSP00000078245
Gene: ENSMUSG00000063160

DomainStartEndE-ValueType
PTB 75 205 1.11e-38 SMART
low complexity region 234 260 N/A INTRINSIC
Pfam:NumbF 287 371 3.5e-32 PFAM
coiled coil region 417 444 N/A INTRINSIC
low complexity region 532 574 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000108378
AA Change: Y520C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104015
Gene: ENSMUSG00000003762
AA Change: Y520C

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 noncoding transcript
Transcript: ENSMUST00000123012
Predicted Effect probably benign
Transcript: ENSMUST00000128090
SMART Domains Protein: ENSMUSP00000123309
Gene: ENSMUSG00000003762

DomainStartEndE-ValueType
low complexity region 93 109 N/A INTRINSIC
Pfam:ABC1 198 304 3.4e-32 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132897
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152342
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144010
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149805
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134215
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.0%
  • 20x: 83.4%
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 119,918,101 (GRCm39) I1534M probably benign Het
Acad11 G A 9: 104,003,785 (GRCm39) A626T probably damaging Het
Akap9 T A 5: 4,119,174 (GRCm39) N3560K probably benign Het
Aldh3a2 C T 11: 61,144,470 (GRCm39) V363I probably benign Het
Anks1b A G 10: 89,912,843 (GRCm39) T289A probably benign Het
Atp11a A G 8: 12,862,340 (GRCm39) N64S probably damaging Het
Atp11c T C X: 59,282,072 (GRCm39) probably null Het
Cd101 T C 3: 100,919,329 (GRCm39) H591R probably damaging Het
Cd36 C T 5: 18,002,120 (GRCm39) V294I probably benign Het
Cfap47 C A X: 78,532,251 (GRCm39) L842F probably damaging Het
Cgref1 T C 5: 31,090,929 (GRCm39) E295G probably benign Het
Cit A G 5: 116,083,901 (GRCm39) M787V probably benign Het
Clcn6 G A 4: 148,097,235 (GRCm39) P611S possibly damaging Het
Clec12a A C 6: 129,327,384 (GRCm39) M1L probably damaging Het
Cmtm6 C T 9: 114,575,573 (GRCm39) R161W probably damaging Het
Colec10 G T 15: 54,325,658 (GRCm39) V163L probably damaging Het
Ctsll3 C A 13: 60,948,821 (GRCm39) E45* probably null Het
Dsg3 A G 18: 20,669,975 (GRCm39) E663G possibly damaging Het
Dst G A 1: 34,231,293 (GRCm39) R2962H probably benign Het
Etnk2 T C 1: 133,300,995 (GRCm39) I254T probably damaging Het
Fbxo36 T C 1: 84,858,835 (GRCm39) I40T probably damaging Het
Fgd2 G A 17: 29,597,383 (GRCm39) V568M probably damaging Het
Fmn1 T C 2: 113,356,207 (GRCm39) Y883H possibly damaging Het
Fpr-rs4 A T 17: 18,242,589 (GRCm39) T199S possibly damaging Het
Gm12789 A G 4: 101,846,131 (GRCm39) K131E probably benign Het
Gm17641 C A 3: 68,777,448 (GRCm39) silent Het
Gm6665 G T 18: 31,953,340 (GRCm39) R43S probably damaging Het
Gzmc T A 14: 56,470,203 (GRCm39) H98L probably damaging Het
Hecw1 T A 13: 14,491,528 (GRCm39) E75V probably damaging Het
Herc2 G T 7: 55,796,417 (GRCm39) V1930L probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Htr6 A T 4: 138,801,776 (GRCm39) C99* probably null Het
Lgals2 C T 15: 78,736,511 (GRCm39) M16I probably benign Het
Lrrc8c A G 5: 105,756,090 (GRCm39) N622D probably damaging Het
Myo15a A T 11: 60,383,791 (GRCm39) I1613F possibly damaging Het
Oacyl C T 18: 65,875,280 (GRCm39) R455C probably benign Het
Or13c25 A T 4: 52,911,397 (GRCm39) Y132* probably null Het
Or5ac21 T A 16: 59,123,766 (GRCm39) N84K probably benign Het
Or5bh3 T C X: 49,098,872 (GRCm39) T81A possibly damaging Het
Orm3 A G 4: 63,275,146 (GRCm39) probably null Het
Phf2 G C 13: 48,985,579 (GRCm39) T67S unknown Het
Phf2 A G 13: 48,957,079 (GRCm39) L1096P probably damaging Het
Pigt T C 2: 164,349,323 (GRCm39) V542A probably damaging Het
Pnpla7 T C 2: 24,937,720 (GRCm39) F992L probably benign Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Pramel11 A G 4: 143,622,263 (GRCm39) M364T probably benign Het
Prmt7 A G 8: 106,964,014 (GRCm39) T303A probably benign Het
Prpf4b A T 13: 35,078,426 (GRCm39) I679F possibly damaging Het
Psd4 T A 2: 24,293,292 (GRCm39) M719K probably benign Het
Ranbp9 A T 13: 43,578,593 (GRCm39) M160K probably benign Het
Rfc1 A G 5: 65,434,706 (GRCm39) Y687H probably damaging Het
Rimbp2 T C 5: 128,883,423 (GRCm39) K119R probably damaging Het
Rnf113a1 T C X: 36,455,046 (GRCm39) M1T probably null Het
Rnf40 A C 7: 127,195,506 (GRCm39) K511Q possibly damaging Het
Ryr2 T A 13: 11,800,029 (GRCm39) probably null Het
Scrib A T 15: 75,937,011 (GRCm39) V365E probably damaging Het
Slc6a17 A G 3: 107,379,443 (GRCm39) V575A possibly damaging Het
Spta1 A G 1: 174,067,732 (GRCm39) N2053S possibly damaging Het
Ssbp2 G A 13: 91,790,511 (GRCm39) probably null Het
Stab1 G T 14: 30,882,456 (GRCm39) N460K probably benign Het
Tbc1d9 T A 8: 83,992,787 (GRCm39) C964S probably benign Het
Tmed11 A G 5: 108,927,680 (GRCm39) probably null Het
Tmem191 C A 16: 17,095,984 (GRCm39) R285S probably damaging Het
Tpr T C 1: 150,312,552 (GRCm39) S1917P probably benign Het
Vill A T 9: 118,892,440 (GRCm39) H357L probably benign Het
Vmn1r229 A G 17: 21,035,051 (GRCm39) T99A probably benign Het
Vmn2r14 A G 5: 109,369,283 (GRCm39) S97P probably damaging Het
Wasf2 G T 4: 132,917,483 (GRCm39) R194L unknown 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
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
R5943:Coq8b UTSW 7 26,933,428 (GRCm39) missense probably damaging 1.00
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'- AGGGGTTACTTGCCTGAAGAAAGC -3'
(R):5'- AGTGGACCCAAGGCTCACTTAGATG -3'

Sequencing Primer
(F):5'- agtgagtcacgcggcag -3'
(R):5'- GCCTCAGAATTCAAGGTTGC -3'
Posted On 2014-04-13