Incidental Mutation 'IGL00697:Coq10b'
ID 9848
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coq10b
Ensembl Gene ENSMUSG00000025981
Gene Name coenzyme Q10B
Synonyms 1700030I21Rik, 9530077A17Rik, 1500041J02Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.398) question?
Stock # IGL00697
Quality Score
Status
Chromosome 1
Chromosomal Location 55091929-55111861 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 55100424 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027125] [ENSMUST00000027125] [ENSMUST00000027125] [ENSMUST00000087617]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000027125
SMART Domains Protein: ENSMUSP00000027125
Gene: ENSMUSG00000025981

DomainStartEndE-ValueType
Pfam:Polyketide_cyc 88 217 2.7e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000027125
SMART Domains Protein: ENSMUSP00000027125
Gene: ENSMUSG00000025981

DomainStartEndE-ValueType
Pfam:Polyketide_cyc 88 217 2.7e-25 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000027125
SMART Domains Protein: ENSMUSP00000027125
Gene: ENSMUSG00000025981

DomainStartEndE-ValueType
Pfam:Polyketide_cyc 88 217 2.7e-25 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000087617
SMART Domains Protein: ENSMUSP00000084899
Gene: ENSMUSG00000025981

DomainStartEndE-ValueType
Pfam:Polyketide_cyc 38 167 4.7e-25 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000185918
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190239
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 12 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aknad1 T A 3: 108,682,324 (GRCm39) D495E probably damaging Het
Brpf1 T A 6: 113,291,947 (GRCm39) L331Q probably damaging Het
Diaph2 C T X: 129,361,689 (GRCm39) probably benign Het
Dsg3 T C 18: 20,657,746 (GRCm39) probably null Het
Iars1 T A 13: 49,863,204 (GRCm39) F552Y probably damaging Het
Katnip G A 7: 125,394,622 (GRCm39) V233M possibly damaging Het
Mfsd14b C T 13: 65,214,515 (GRCm39) S479N probably benign Het
Nsmaf A G 4: 6,417,163 (GRCm39) probably null Het
Pdzd2 T C 15: 12,373,733 (GRCm39) Y2134C possibly damaging Het
Srpk2 C T 5: 23,745,377 (GRCm39) R95Q probably benign Het
Svs3a A T 2: 164,131,732 (GRCm39) E100V probably damaging Het
Tspyl2 T C X: 151,122,710 (GRCm39) D379G probably damaging Het
Other mutations in Coq10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00645:Coq10b APN 1 55,100,468 (GRCm39) missense probably benign
R1517:Coq10b UTSW 1 55,103,416 (GRCm39) missense probably damaging 1.00
R1751:Coq10b UTSW 1 55,100,513 (GRCm39) missense probably damaging 0.99
R1767:Coq10b UTSW 1 55,100,513 (GRCm39) missense probably damaging 0.99
R2195:Coq10b UTSW 1 55,100,457 (GRCm39) missense probably damaging 1.00
R2421:Coq10b UTSW 1 55,092,136 (GRCm39) missense probably benign 0.00
R4796:Coq10b UTSW 1 55,110,957 (GRCm39) missense probably damaging 1.00
R4851:Coq10b UTSW 1 55,110,903 (GRCm39) missense probably benign 0.13
R5367:Coq10b UTSW 1 55,092,143 (GRCm39) missense probably benign
R5534:Coq10b UTSW 1 55,103,359 (GRCm39) missense possibly damaging 0.83
R5979:Coq10b UTSW 1 55,092,077 (GRCm39) missense probably benign 0.00
R7402:Coq10b UTSW 1 55,100,500 (GRCm39) missense probably benign 0.00
R7836:Coq10b UTSW 1 55,092,013 (GRCm39) start gained probably benign
R7931:Coq10b UTSW 1 55,092,152 (GRCm39) splice site probably benign
R9292:Coq10b UTSW 1 55,110,868 (GRCm39) missense probably damaging 1.00
R9426:Coq10b UTSW 1 55,106,719 (GRCm39) missense possibly damaging 0.46
Posted On 2012-12-06