Incidental Mutation 'IGL02335:Cox8b'
ID289708
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cox8b
Ensembl Gene ENSMUSG00000025488
Gene Namecytochrome c oxidase subunit VIIIb
SynonymsCOX VIII-H, COX8H
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL02335
Quality Score
Status
Chromosome7
Chromosomal Location140898945-140900446 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 140899077 bp
ZygosityHeterozygous
Amino Acid Change Glycine to Tryptophan at position 42 (G42W)
Ref Sequence ENSEMBL: ENSMUSP00000026561 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026560] [ENSMUST00000026561] [ENSMUST00000163610] [ENSMUST00000164681] [ENSMUST00000166889]
Predicted Effect probably benign
Transcript: ENSMUST00000026560
SMART Domains Protein: ENSMUSP00000026560
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
PINT 263 356 2.26e-21 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000026561
AA Change: G42W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026561
Gene: ENSMUSG00000025488
AA Change: G42W

DomainStartEndE-ValueType
Pfam:COX8 25 67 9.6e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125668
Predicted Effect probably benign
Transcript: ENSMUST00000130462
SMART Domains Protein: ENSMUSP00000126160
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
PINT 100 189 6.59e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151644
Predicted Effect probably benign
Transcript: ENSMUST00000163610
SMART Domains Protein: ENSMUSP00000130580
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
PDB:4CR4|O 16 347 7e-44 PDB
Blast:PINT 245 329 9e-26 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000164681
SMART Domains Protein: ENSMUSP00000132405
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
PDB:4CR4|O 16 184 1e-12 PDB
low complexity region 217 232 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000165539
SMART Domains Protein: ENSMUSP00000130256
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
Pfam:PCI 1 63 7.7e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166889
SMART Domains Protein: ENSMUSP00000126532
Gene: ENSMUSG00000025487

DomainStartEndE-ValueType
low complexity region 9 14 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik A T 7: 140,296,540 N526Y probably damaging Het
A4gnt C T 9: 99,620,213 T142I probably benign Het
Acaca A G 11: 84,214,258 T147A possibly damaging Het
Agbl3 A G 6: 34,799,750 D397G probably damaging Het
Ank1 C T 8: 23,135,638 T1597M possibly damaging Het
Arl4d A G 11: 101,666,929 T94A possibly damaging Het
Cd22 A G 7: 30,876,134 I161T probably damaging Het
Clcn7 C T 17: 25,146,847 L166F probably benign Het
Cnbd1 G T 4: 19,055,095 N110K possibly damaging Het
Col14a1 A T 15: 55,463,769 probably benign Het
Col6a6 C T 9: 105,784,101 V270M probably damaging Het
Csn1s1 A T 5: 87,680,845 D275V probably benign Het
Cubn T A 2: 13,427,834 probably null Het
Dctn2 T C 10: 127,275,821 probably benign Het
Dnm1l A G 16: 16,342,740 probably benign Het
Dpp4 T C 2: 62,334,644 E687G probably benign Het
Fbxw20 T C 9: 109,223,309 K249E possibly damaging Het
Fhl2 C T 1: 43,128,390 W181* probably null Het
G2e3 T A 12: 51,369,158 M559K probably benign Het
Gdap1l1 A T 2: 163,447,595 Y160F possibly damaging Het
Gm1110 T C 9: 26,881,763 I572M probably benign Het
Gm5538 G A 3: 59,743,605 M49I probably benign Het
Gpatch2l T A 12: 86,256,937 probably benign Het
Kcnq4 A G 4: 120,715,854 L250P probably damaging Het
Lamc2 A T 1: 153,166,216 N57K probably benign Het
Lingo1 A G 9: 56,620,081 L408P probably damaging Het
Mmrn1 A T 6: 60,977,147 N804I possibly damaging Het
Mroh7 A G 4: 106,707,782 L545S probably damaging Het
Nup188 T A 2: 30,323,636 probably null Het
Olfr1442 T C 19: 12,674,238 I11T probably damaging Het
Olfr1494 A G 19: 13,749,934 D276G probably benign Het
Olfr96 A G 17: 37,225,326 N67S probably damaging Het
Pls1 A T 9: 95,784,183 N138K probably benign Het
Prkch C A 12: 73,702,512 N345K probably benign Het
Reps1 T C 10: 18,056,117 probably null Het
Rrp7a T C 15: 83,122,691 E15G probably benign Het
Scn1a T A 2: 66,277,661 T1557S possibly damaging Het
Smtn T C 11: 3,526,215 E602G probably damaging Het
Syvn1 T C 19: 6,050,093 probably null Het
Tbxas1 A G 6: 39,023,080 D267G probably damaging Het
Topbp1 A G 9: 103,328,523 N787D probably damaging Het
Vmn2r22 T G 6: 123,638,092 S180R probably damaging Het
Zfp345 T A 2: 150,474,543 E48D possibly damaging Het
Zfp608 G A 18: 54,897,437 Q1144* probably null Het
Zfp936 T A 7: 43,187,267 L34Q probably damaging Het
Other mutations in Cox8b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R3722:Cox8b UTSW 7 140899005 nonsense probably null
R4998:Cox8b UTSW 7 140899088 missense probably damaging 0.99
Posted On2015-04-16