Incidental Mutation 'IGL00645:Coq10b'
ID9850
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coq10b
Ensembl Gene ENSMUSG00000025981
Gene Namecoenzyme Q10B
Synonyms9530077A17Rik, 1700030I21Rik, 1500041J02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.190) question?
Stock #IGL00645
Quality Score
Status
Chromosome1
Chromosomal Location55052770-55072702 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55061309 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 51 (T51A)
Ref Sequence ENSEMBL: ENSMUSP00000027125 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027125] [ENSMUST00000087617]
Predicted Effect probably benign
Transcript: ENSMUST00000027125
AA Change: T51A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000027125
Gene: ENSMUSG00000025981
AA Change: T51A

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: 10 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c21 A G 13: 4,576,313 D112G probably damaging Het
Cd2 T C 3: 101,283,223 N135D probably damaging Het
Cst10 T A 2: 149,409,979 C125S probably damaging Het
Fam135b A G 15: 71,462,546 V933A probably damaging Het
Fbn1 A G 2: 125,317,103 probably benign Het
Kcna10 G A 3: 107,195,465 E471K possibly damaging Het
Msl1 T A 11: 98,805,421 C598S probably damaging Het
Nup35 T A 2: 80,654,832 F192L probably damaging Het
Sec16b T A 1: 157,566,719 V1026D probably damaging Het
Serpina3f T C 12: 104,217,340 F154L probably benign Het
Other mutations in Coq10b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00697:Coq10b APN 1 55061265 splice site probably null
R1517:Coq10b UTSW 1 55064257 missense probably damaging 1.00
R1751:Coq10b UTSW 1 55061354 missense probably damaging 0.99
R1767:Coq10b UTSW 1 55061354 missense probably damaging 0.99
R2195:Coq10b UTSW 1 55061298 missense probably damaging 1.00
R2421:Coq10b UTSW 1 55052977 missense probably benign 0.00
R4796:Coq10b UTSW 1 55071798 missense probably damaging 1.00
R4851:Coq10b UTSW 1 55071744 missense probably benign 0.13
R5367:Coq10b UTSW 1 55052984 missense probably benign
R5534:Coq10b UTSW 1 55064200 missense possibly damaging 0.83
R5979:Coq10b UTSW 1 55052918 missense probably benign 0.00
R7402:Coq10b UTSW 1 55061341 missense probably benign 0.00
R7836:Coq10b UTSW 1 55052854 start gained probably benign
R7931:Coq10b UTSW 1 55052993 splice site probably benign
Posted On2012-12-06