Incidental Mutation 'R2280:Cox8c'
ID 243066
Institutional Source Beutler Lab
Gene Symbol Cox8c
Ensembl Gene ENSMUSG00000043319
Gene Name cytochrome c oxidase subunit 8C
Synonyms COXVIII-3, 1700007F21Rik, COX8-3
MMRRC Submission 040279-MU
Accession Numbers
Essential gene? Not available question?
Stock # R2280 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 102865575-102866785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 102865713 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 30 (H30L)
Ref Sequence ENSEMBL: ENSMUSP00000056155 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000053611]
AlphaFold A6H666
Predicted Effect possibly damaging
Transcript: ENSMUST00000053611
AA Change: H30L

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000056155
Gene: ENSMUSG00000043319
AA Change: H30L

DomainStartEndE-ValueType
low complexity region 2 15 N/A INTRINSIC
Pfam:COX8 30 72 2.7e-13 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 A G 6: 85,654,955 (GRCm39) N2698S probably damaging Het
Ankrd37 T C 8: 46,452,413 (GRCm39) T19A probably benign Het
Anks1b A C 10: 90,802,164 (GRCm39) K353N probably damaging Het
Ano3 T A 2: 110,513,104 (GRCm39) E630D probably benign Het
Ap3b1 A G 13: 94,664,724 (GRCm39) M888V unknown Het
Apoh T A 11: 108,300,006 (GRCm39) Y218* probably null Het
Arhgef19 G A 4: 140,973,827 (GRCm39) G105S probably benign Het
Brd7 A G 8: 89,069,385 (GRCm39) S437P probably benign Het
Cacna2d4 A T 6: 119,327,002 (GRCm39) Q1089L possibly damaging Het
Ccdc168 T A 1: 44,095,620 (GRCm39) H1826L possibly damaging Het
Ccser1 A T 6: 61,547,799 (GRCm39) M49L probably damaging Het
Cep170 A T 1: 176,602,071 (GRCm39) V345E probably benign Het
Chaf1b T G 16: 93,688,459 (GRCm39) Y185D probably damaging Het
Clasp1 C T 1: 118,492,913 (GRCm39) P1153S probably benign Het
Clvs2 A T 10: 33,404,496 (GRCm39) I240N probably damaging Het
Crtac1 G A 19: 42,272,006 (GRCm39) L646F unknown Het
Cyp46a1 T C 12: 108,321,730 (GRCm39) S319P probably damaging Het
Dcdc5 G A 2: 106,202,867 (GRCm39) noncoding transcript Het
Ddx4 T C 13: 112,757,190 (GRCm39) I377V probably benign Het
Dis3l T A 9: 64,225,076 (GRCm39) N407I possibly damaging Het
Dysf A C 6: 84,041,476 (GRCm39) T161P probably damaging Het
Ecsit C T 9: 21,987,836 (GRCm39) V68I possibly damaging Het
Ei24 A G 9: 36,693,635 (GRCm39) probably null Het
Fbxl19 A T 7: 127,347,540 (GRCm39) D32V possibly damaging Het
Fgd5 G A 6: 91,965,926 (GRCm39) V562M possibly damaging Het
Flnc G A 6: 29,438,665 (GRCm39) W186* probably null Het
Frem2 A G 3: 53,479,844 (GRCm39) C1950R probably damaging Het
Fryl T C 5: 73,198,707 (GRCm39) D2640G possibly damaging Het
Ganab T C 19: 8,886,832 (GRCm39) V306A probably damaging Het
Gbx2 A T 1: 89,858,359 (GRCm39) V40D probably damaging Het
Gcc2 C A 10: 58,105,502 (GRCm39) T210K probably benign Het
Gcn1 T A 5: 115,750,789 (GRCm39) M1991K probably damaging Het
Gpr18 T A 14: 122,150,017 (GRCm39) T3S probably benign Het
Herc2 A C 7: 55,787,019 (GRCm39) K1621N possibly damaging Het
Hspg2 A G 4: 137,249,354 (GRCm39) E1300G probably damaging Het
Krtap19-5 C T 16: 88,693,231 (GRCm39) C27Y unknown Het
Lrrc3b A T 14: 15,358,076 (GRCm38) L177M probably damaging Het
Mthfd1 T C 12: 76,327,266 (GRCm39) I118T probably benign Het
Ncoa4-ps A G 12: 119,226,573 (GRCm39) noncoding transcript Het
Nphp4 A G 4: 152,641,500 (GRCm39) K1094E possibly damaging Het
Npy1r C T 8: 67,156,711 (GRCm39) L44F possibly damaging Het
Or10aa1 C A 1: 173,870,087 (GRCm39) S190R probably benign Het
Pcx C A 19: 4,654,571 (GRCm39) R328S probably damaging Het
Pde6a T C 18: 61,395,505 (GRCm39) Y583H probably damaging Het
Pip5k1b T A 19: 24,356,311 (GRCm39) Y209F probably damaging Het
Plch2 A T 4: 155,068,766 (GRCm39) S1182T probably damaging Het
Pum1 A T 4: 130,493,322 (GRCm39) I696F probably damaging Het
Pxdn T C 12: 30,034,905 (GRCm39) V254A probably damaging Het
Rcsd1 C T 1: 165,486,998 (GRCm39) A72T probably benign Het
Rsph4a A T 10: 33,787,595 (GRCm39) I584L probably benign Het
Scamp5 A G 9: 57,352,722 (GRCm39) V149A probably benign Het
Sike1 A G 3: 102,904,694 (GRCm39) H134R possibly damaging Het
Slc12a9 A G 5: 137,330,474 (GRCm39) L77P probably damaging Het
Spmap2l T C 5: 77,207,214 (GRCm39) I324T probably damaging Het
Taar7f G A 10: 23,925,417 (GRCm39) A4T probably benign Het
Tmem216 T A 19: 10,529,237 (GRCm39) T104S probably damaging Het
Tpsg1 C T 17: 25,593,016 (GRCm39) R94C probably damaging Het
Utp20 A T 10: 88,661,365 (GRCm39) probably null Het
Wdr35 A G 12: 9,028,628 (GRCm39) Q82R probably benign Het
Zfp12 A G 5: 143,231,248 (GRCm39) Y525C probably damaging Het
Zfp532 T C 18: 65,757,783 (GRCm39) V572A probably damaging Het
Zfyve26 T A 12: 79,321,814 (GRCm39) Q935L probably damaging Het
Other mutations in Cox8c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01973:Cox8c APN 12 102,865,626 (GRCm39) start codon destroyed probably null
IGL02530:Cox8c APN 12 102,865,752 (GRCm39) critical splice donor site probably null
R4695:Cox8c UTSW 12 102,865,742 (GRCm39) missense possibly damaging 0.80
R6066:Cox8c UTSW 12 102,866,534 (GRCm39) missense probably benign
R8848:Cox8c UTSW 12 102,865,577 (GRCm39) utr 5 prime probably benign
X0025:Cox8c UTSW 12 102,865,627 (GRCm39) start codon destroyed probably null
Predicted Primers PCR Primer
(F):5'- TCAAATTCCATGCAAAGGGCTTG -3'
(R):5'- CTGAACCGCCATCCAAAGTG -3'

Sequencing Primer
(F):5'- ATGGTGCGCATGCTCAAAC -3'
(R):5'- GTGACCCCACAACTGAAGCTG -3'
Posted On 2014-10-16