Incidental Mutation 'R5495:Ccdc59'
ID432299
Institutional Source Beutler Lab
Gene Symbol Ccdc59
Ensembl Gene ENSMUSG00000019897
Gene Namecoiled-coil domain containing 59
Synonyms2300004H16Rik, D10Ertd718e
MMRRC Submission 043056-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R5495 (G1)
Quality Score225
Status Not validated
Chromosome10
Chromosomal Location105841067-105847833 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 105845378 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Glutamic Acid at position 164 (K164E)
Ref Sequence ENSEMBL: ENSMUSP00000020049 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020049] [ENSMUST00000046638] [ENSMUST00000176040] [ENSMUST00000176924]
Predicted Effect probably damaging
Transcript: ENSMUST00000020049
AA Change: K164E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000020049
Gene: ENSMUSG00000019897
AA Change: K164E

DomainStartEndE-ValueType
Pfam:rRNA_processing 48 239 2.5e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000046638
SMART Domains Protein: ENSMUSP00000038665
Gene: ENSMUSG00000036009

DomainStartEndE-ValueType
Pfam:Methyltransf_32 149 413 1.9e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133538
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155406
Predicted Effect probably benign
Transcript: ENSMUST00000176040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000176830
Predicted Effect probably benign
Transcript: ENSMUST00000176924
Coding Region Coverage
  • 1x: 98.4%
  • 3x: 97.3%
  • 10x: 95.3%
  • 20x: 91.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130204L05Rik A T 3: 91,090,295 L38M possibly damaging Het
Akt2 T C 7: 27,636,169 probably null Het
Arhgap29 T G 3: 122,014,929 M844R probably damaging Het
Atp1a1 T G 3: 101,591,425 D184A probably benign Het
Bcl11a T A 11: 24,165,042 V795E possibly damaging Het
Casp12 T A 9: 5,353,797 I277N possibly damaging Het
D630003M21Rik C T 2: 158,220,511 G30S possibly damaging Het
Dgkd A G 1: 87,926,872 D632G probably damaging Het
Efr3a A G 15: 65,815,409 K56E possibly damaging Het
Egflam T A 15: 7,251,241 R434S probably damaging Het
Fancl C G 11: 26,397,801 A51G probably damaging Het
Fkbp7 T C 2: 76,663,294 Y185C probably damaging Het
Galc A G 12: 98,231,414 probably null Het
Galnt15 A G 14: 32,029,817 S109G probably damaging Het
Gm13757 T C 2: 88,446,057 T294A probably benign Het
Gramd3 T C 18: 56,482,622 I163T probably damaging Het
Impa1 A G 3: 10,326,170 V80A probably benign Het
Itga10 T C 3: 96,647,371 M56T possibly damaging Het
Larp1b G T 3: 41,035,822 R135I probably damaging Het
Lgals12 C T 19: 7,604,130 A71T probably damaging Het
Lmbr1 A T 5: 29,346,853 L78* probably null Het
Lrat C A 3: 82,896,982 M229I probably benign Het
Mug2 A T 6: 122,079,650 M1185L probably damaging Het
Naprt T C 15: 75,893,847 probably null Het
Nfat5 A G 8: 107,368,447 I1107V probably benign Het
Nr4a2 T C 2: 57,112,375 Y22C probably damaging Het
Ogfod1 C A 8: 94,064,278 Q526K probably benign Het
Olfr139 G A 11: 74,044,785 T163I probably damaging Het
Olfr710 C A 7: 106,944,492 G170* probably null Het
Olfr957 T C 9: 39,511,145 T192A probably benign Het
Parp10 T G 15: 76,243,166 I24L probably benign Het
Pcdha11 A G 18: 37,011,026 T57A probably benign Het
Prdm8 A G 5: 98,185,306 E244G possibly damaging Het
Prl6a1 T C 13: 27,312,671 S3P possibly damaging Het
Rab11fip3 T A 17: 26,016,143 T18S probably damaging Het
Rfc4 T C 16: 23,122,254 probably benign Het
Rubcnl G T 14: 75,042,337 V387F possibly damaging Het
Serpinb12 T C 1: 106,956,421 L299P probably damaging Het
Sptbn5 G A 2: 120,046,484 probably benign Het
Taar4 A T 10: 23,961,283 I264F possibly damaging Het
Tdpoz4 A T 3: 93,797,499 T368S probably benign Het
Thsd7b T A 1: 129,595,833 H124Q probably damaging Het
Ugt1a6a A T 1: 88,139,024 Q184L probably benign Het
Vnn1 T A 10: 23,898,564 F168L probably damaging Het
Zan A G 5: 137,470,408 L267P probably damaging Het
Zswim8 A G 14: 20,722,286 S1621G probably damaging Het
Other mutations in Ccdc59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00466:Ccdc59 APN 10 105847174 missense probably benign 0.00
IGL00466:Ccdc59 APN 10 105847173 missense probably benign 0.01
R2173:Ccdc59 UTSW 10 105841527 missense possibly damaging 0.88
R2174:Ccdc59 UTSW 10 105841527 missense possibly damaging 0.88
R2870:Ccdc59 UTSW 10 105841527 missense possibly damaging 0.88
R2870:Ccdc59 UTSW 10 105841527 missense possibly damaging 0.88
R2873:Ccdc59 UTSW 10 105841527 missense possibly damaging 0.88
R2937:Ccdc59 UTSW 10 105841527 missense possibly damaging 0.88
R2938:Ccdc59 UTSW 10 105841527 missense possibly damaging 0.88
R4796:Ccdc59 UTSW 10 105841568 missense probably benign 0.05
Predicted Primers PCR Primer
(F):5'- ACCGTCCTTTAATCTGTAGTCG -3'
(R):5'- CTGAGCCAGTCAAAGACTTTG -3'

Sequencing Primer
(F):5'- CAATAGCTTTAATGTCTTATTTGGGC -3'
(R):5'- ACAAGTCTACTGAGTAAAGCATAAAG -3'
Posted On2016-10-05