Incidental Mutation 'IGL00644:Cabcoco1'
ID8425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cabcoco1
Ensembl Gene ENSMUSG00000019945
Gene Nameciliary associated calcium binding coiled-coil 1
Synonyms1700040L02Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL00644
Quality Score
Status
Chromosome10
Chromosomal Location68430953-68541896 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 68533900 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Lysine at position 38 (E38K)
Ref Sequence ENSEMBL: ENSMUSP00000020103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020103]
Predicted Effect probably benign
Transcript: ENSMUST00000020103
AA Change: E38K

PolyPhen 2 Score 0.178 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000020103
Gene: ENSMUSG00000019945
AA Change: E38K

DomainStartEndE-ValueType
Pfam:CLAMP 93 192 1e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220037
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 7 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Limch1 G T 5: 67,016,552 A375S probably benign Het
Lman1 G A 18: 65,997,622 Q165* probably null Het
Lrrc7 G A 3: 158,202,368 Q260* probably null Het
Pdzph1 T C 17: 58,888,110 D10G probably benign Het
Secisbp2l G A 2: 125,743,844 P863S probably damaging Het
Slc6a14 T A X: 21,739,656 I588K probably benign Het
Txnrd1 T A 10: 82,885,176 probably benign Het
Other mutations in Cabcoco1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00503:Cabcoco1 APN 10 68541805 missense possibly damaging 0.94
IGL02253:Cabcoco1 APN 10 68436277 splice site probably null
R0060:Cabcoco1 UTSW 10 68533862 synonymous probably null
R0629:Cabcoco1 UTSW 10 68516278 missense probably damaging 1.00
R0968:Cabcoco1 UTSW 10 68436372 missense probably benign 0.00
R2108:Cabcoco1 UTSW 10 68431323 missense probably benign 0.04
R2154:Cabcoco1 UTSW 10 68431262 missense probably damaging 1.00
R3076:Cabcoco1 UTSW 10 68525645 missense possibly damaging 0.62
R3077:Cabcoco1 UTSW 10 68525645 missense possibly damaging 0.62
R3872:Cabcoco1 UTSW 10 68516278 missense probably damaging 1.00
R4876:Cabcoco1 UTSW 10 68541769 missense probably benign
R6299:Cabcoco1 UTSW 10 68436890 missense probably damaging 0.99
R6460:Cabcoco1 UTSW 10 68516381 missense probably damaging 1.00
R7127:Cabcoco1 UTSW 10 68436330 missense probably benign 0.26
Posted On2012-12-06