Incidental Mutation 'IGL03146:Ccdc85c'
ID 410912
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc85c
Ensembl Gene ENSMUSG00000084883
Gene Name coiled-coil domain containing 85C
Synonyms hhy, Gm9010
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL03146
Quality Score
Status
Chromosome 12
Chromosomal Location 108169861-108241684 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 108173395 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 387 (R387*)
Ref Sequence ENSEMBL: ENSMUSP00000152421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101055] [ENSMUST00000136175] [ENSMUST00000221167] [ENSMUST00000222310]
AlphaFold E9Q6B2
Predicted Effect probably benign
Transcript: ENSMUST00000101055
SMART Domains Protein: ENSMUSP00000098616
Gene: ENSMUSG00000021258

DomainStartEndE-ValueType
CYCLIN 55 149 6.67e-16 SMART
Cyclin_C 158 278 4.83e-1 SMART
CYCLIN 162 256 1.23e-1 SMART
low complexity region 342 361 N/A INTRINSIC
low complexity region 365 392 N/A INTRINSIC
low complexity region 404 427 N/A INTRINSIC
low complexity region 428 446 N/A INTRINSIC
low complexity region 457 471 N/A INTRINSIC
low complexity region 476 576 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000136175
AA Change: R400*
SMART Domains Protein: ENSMUSP00000125757
Gene: ENSMUSG00000084883
AA Change: R400*

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
Pfam:DUF2216 16 220 6.9e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221167
Predicted Effect probably null
Transcript: ENSMUST00000222310
AA Change: R387*
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223363
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous mutant mice display hydrocephalus, intracranial hemorrhage due to ventricular dilatation, and heterotopia in the subcortical regions. Hydroencephaly usually becomes evident before 15 weeks of age and affected animals die within several days after notice. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,294,519 (GRCm39) D360G probably damaging Het
Adam6a A T 12: 113,509,144 (GRCm39) T506S probably damaging Het
Adamts15 A G 9: 30,832,863 (GRCm39) V224A probably damaging Het
Arhgef12 G T 9: 42,885,866 (GRCm39) D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 (GRCm39) probably benign Het
Cfap57 T A 4: 118,456,216 (GRCm39) I493F probably damaging Het
Chst9 A G 18: 15,586,035 (GRCm39) I176T probably damaging Het
Clpx G T 9: 65,234,112 (GRCm39) V572L probably benign Het
Csmd3 T A 15: 47,744,873 (GRCm39) N1374I probably benign Het
Cyp2e1 T A 7: 140,350,134 (GRCm39) M273K probably benign Het
Ehbp1l1 T C 19: 5,770,061 (GRCm39) E414G probably benign Het
Ehd1 T C 19: 6,327,368 (GRCm39) F122L probably damaging Het
Fcho1 A G 8: 72,170,074 (GRCm39) probably benign Het
Fermt3 T C 19: 6,980,631 (GRCm39) E312G possibly damaging Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
G3bp2 G A 5: 92,214,399 (GRCm39) R132C probably damaging Het
Inpp4b A T 8: 82,470,410 (GRCm39) I35F possibly damaging Het
Izumo3 T G 4: 92,033,276 (GRCm39) I107L probably damaging Het
Lama3 C A 18: 12,660,681 (GRCm39) Q484K possibly damaging Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mapkbp1 T C 2: 119,828,955 (GRCm39) probably benign Het
Mast4 T C 13: 102,874,163 (GRCm39) N1735S probably benign Het
Or14a257 T C 7: 86,138,402 (GRCm39) D119G probably damaging Het
Or4c100 T A 2: 88,356,488 (GRCm39) M187K possibly damaging Het
Oxct1 T C 15: 4,130,630 (GRCm39) L374P probably damaging Het
Parp14 G A 16: 35,678,823 (GRCm39) Q382* probably null Het
Pax2 A G 19: 44,821,714 (GRCm39) probably benign Het
Prkaa1 T C 15: 5,198,122 (GRCm39) V146A probably damaging Het
Ptprb C T 10: 116,164,032 (GRCm39) A900V probably benign Het
Rgs6 A T 12: 83,099,312 (GRCm39) D130V probably damaging Het
Ryr1 C A 7: 28,793,457 (GRCm39) R1344L probably benign Het
Scgb1b12 C A 7: 32,033,969 (GRCm39) D76E possibly damaging Het
Sel1l3 T A 5: 53,311,585 (GRCm39) E633D probably benign Het
Slc1a7 T A 4: 107,850,189 (GRCm39) I100N probably damaging Het
Slc25a35 A G 11: 68,859,678 (GRCm39) K64E possibly damaging Het
Spmip4 A T 6: 50,550,853 (GRCm39) V532E probably damaging Het
Stil C A 4: 114,881,612 (GRCm39) Q719K probably damaging Het
Stim1 T A 7: 102,070,562 (GRCm39) L265Q probably damaging Het
Tmem191 A G 16: 17,095,246 (GRCm39) E169G probably damaging Het
Tmem255b T C 8: 13,504,174 (GRCm39) L101P probably damaging Het
Trgv3 C A 13: 19,427,337 (GRCm39) Y73* probably null Het
Zfyve26 G A 12: 79,330,846 (GRCm39) Q458* probably null Het
Other mutations in Ccdc85c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Ccdc85c APN 12 108,174,103 (GRCm39) missense probably damaging 1.00
IGL02061:Ccdc85c APN 12 108,188,002 (GRCm39) missense probably damaging 1.00
IGL02316:Ccdc85c APN 12 108,177,829 (GRCm39) missense probably damaging 1.00
IGL02516:Ccdc85c APN 12 108,241,160 (GRCm39) missense unknown
FR4304:Ccdc85c UTSW 12 108,240,871 (GRCm39) small insertion probably benign
FR4449:Ccdc85c UTSW 12 108,240,875 (GRCm39) small insertion probably benign
R4685:Ccdc85c UTSW 12 108,173,434 (GRCm39) missense probably benign 0.33
R5048:Ccdc85c UTSW 12 108,187,966 (GRCm39) critical splice donor site probably null
R5516:Ccdc85c UTSW 12 108,174,109 (GRCm39) missense probably damaging 1.00
R5588:Ccdc85c UTSW 12 108,177,793 (GRCm39) missense probably damaging 1.00
R6054:Ccdc85c UTSW 12 108,241,028 (GRCm39) missense unknown
R6318:Ccdc85c UTSW 12 108,240,968 (GRCm39) missense unknown
R7094:Ccdc85c UTSW 12 108,240,877 (GRCm39) frame shift probably null
R8167:Ccdc85c UTSW 12 108,240,759 (GRCm39) missense unknown
R9101:Ccdc85c UTSW 12 108,240,917 (GRCm39) missense unknown
RF008:Ccdc85c UTSW 12 108,240,887 (GRCm39) small insertion probably benign
RF044:Ccdc85c UTSW 12 108,240,871 (GRCm39) small insertion probably benign
Posted On 2016-08-02