Incidental Mutation 'IGL00466:Ccdc59'
ID 4670
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc59
Ensembl Gene ENSMUSG00000019897
Gene Name coiled-coil domain containing 59
Synonyms 2300004H16Rik, D10Ertd718e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00466
Quality Score
Status
Chromosome 10
Chromosomal Location 105677340-105683371 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 105683034 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Cysteine at position 240 (S240C)
Ref Sequence ENSEMBL: ENSMUSP00000020049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020049]
AlphaFold Q8R2N0
Predicted Effect probably benign
Transcript: ENSMUST00000020049
AA Change: S240C

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000020049
Gene: ENSMUSG00000019897
AA Change: S240C

DomainStartEndE-ValueType
Pfam:rRNA_processing 48 239 2.5e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155406
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim1 C T 19: 57,056,618 (GRCm39) A359T probably damaging Het
Atm A G 9: 53,410,412 (GRCm39) probably benign Het
Chrm1 A T 19: 8,655,438 (GRCm39) I48F probably benign Het
Col28a1 T C 6: 8,022,081 (GRCm39) probably benign Het
Gys2 G A 6: 142,409,016 (GRCm39) Q80* probably null Het
Hck A T 2: 152,978,653 (GRCm39) T289S probably benign Het
Il1rapl2 A G X: 137,735,292 (GRCm39) D403G probably damaging Het
Kif16b A T 2: 142,689,955 (GRCm39) L319* probably null Het
Kit T C 5: 75,771,479 (GRCm39) I212T probably benign Het
Mroh5 G A 15: 73,664,638 (GRCm39) probably benign Het
Muc6 T C 7: 141,232,169 (GRCm39) Y986C possibly damaging Het
Nln A C 13: 104,172,153 (GRCm39) V641G probably damaging Het
Nyap2 C A 1: 81,169,695 (GRCm39) L151I probably damaging Het
Plce1 A G 19: 38,709,473 (GRCm39) Y1109C probably damaging Het
Slc10a4 T C 5: 73,169,263 (GRCm39) I296T probably damaging Het
Slc35c1 T A 2: 92,284,703 (GRCm39) I304F probably benign Het
Stxbp2 C T 8: 3,684,065 (GRCm39) A124V probably benign Het
Stxbp5 A G 10: 9,675,694 (GRCm39) Y642H probably damaging Het
Tecta T C 9: 42,243,844 (GRCm39) T2003A probably damaging Het
Zfp804a C A 2: 81,884,219 (GRCm39) L29I probably benign Het
Other mutations in Ccdc59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Ccdc59 APN 10 105,683,035 (GRCm39) missense probably benign 0.00
R2173:Ccdc59 UTSW 10 105,677,388 (GRCm39) missense possibly damaging 0.88
R2174:Ccdc59 UTSW 10 105,677,388 (GRCm39) missense possibly damaging 0.88
R2870:Ccdc59 UTSW 10 105,677,388 (GRCm39) missense possibly damaging 0.88
R2870:Ccdc59 UTSW 10 105,677,388 (GRCm39) missense possibly damaging 0.88
R2873:Ccdc59 UTSW 10 105,677,388 (GRCm39) missense possibly damaging 0.88
R2937:Ccdc59 UTSW 10 105,677,388 (GRCm39) missense possibly damaging 0.88
R2938:Ccdc59 UTSW 10 105,677,388 (GRCm39) missense possibly damaging 0.88
R4796:Ccdc59 UTSW 10 105,677,429 (GRCm39) missense probably benign 0.05
R5495:Ccdc59 UTSW 10 105,681,239 (GRCm39) missense probably damaging 1.00
R7938:Ccdc59 UTSW 10 105,677,455 (GRCm39) missense probably benign 0.03
R9022:Ccdc59 UTSW 10 105,683,007 (GRCm39) missense probably damaging 0.99
Posted On 2012-04-20