Incidental Mutation 'IGL02316:Ccdc85c'
ID288034
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc85c
Ensembl Gene ENSMUSG00000084883
Gene Namecoiled-coil domain containing 85C
SynonymsGm9010
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.354) question?
Stock #IGL02316
Quality Score
Status
Chromosome12
Chromosomal Location108203602-108275425 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 108211570 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Leucine at position 321 (H321L)
Ref Sequence ENSEMBL: ENSMUSP00000125757 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000136175] [ENSMUST00000222310]
Predicted Effect probably damaging
Transcript: ENSMUST00000136175
AA Change: H321L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000125757
Gene: ENSMUSG00000084883
AA Change: H321L

DomainStartEndE-ValueType
low complexity region 6 15 N/A INTRINSIC
Pfam:DUF2216 16 220 6.9e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000222310
AA Change: H308L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c13 G T 13: 4,203,459 probably benign Het
Arhgap26 C T 18: 38,642,546 noncoding transcript Het
Atp5b T C 10: 128,084,309 V108A probably benign Het
B230307C23Rik G A 16: 98,008,650 V9M probably damaging Het
Diaph3 A T 14: 86,986,115 M321K possibly damaging Het
Dicer1 G A 12: 104,702,553 A1290V probably damaging Het
Dnah6 G A 6: 73,168,911 T839M probably benign Het
Eif3a G A 19: 60,771,638 probably benign Het
Eml1 T C 12: 108,534,759 probably benign Het
Exoc4 A G 6: 33,910,584 Q769R probably damaging Het
Fam184a T G 10: 53,638,239 T426P probably damaging Het
Fsip2 C A 2: 82,978,793 H1819N probably benign Het
Gm6686 T A 17: 15,566,238 probably benign Het
Hadha T C 5: 30,126,567 S464G probably benign Het
Ighv5-17 A T 12: 113,859,155 C115* probably null Het
Jmjd6 T C 11: 116,843,102 Y31C possibly damaging Het
Klrb1-ps1 G A 6: 129,116,569 noncoding transcript Het
Mgat1 T C 11: 49,261,358 Y223H probably damaging Het
Muc4 T C 16: 32,750,850 S243P possibly damaging Het
Numa1 T C 7: 102,001,370 L69P probably damaging Het
Olfr1198 A G 2: 88,746,843 F15S probably damaging Het
Olfr350 C A 2: 36,850,282 P79T probably damaging Het
Olfr50 A T 2: 36,793,620 H128L probably damaging Het
Olfr745 T C 14: 50,642,287 I2T probably benign Het
Pde1c A T 6: 56,151,351 D332E possibly damaging Het
Pitpnm1 A G 19: 4,112,835 I1143V probably benign Het
Rsl1 T A 13: 67,177,056 probably null Het
Scg2 A C 1: 79,435,681 L442V probably damaging Het
Sez6l A T 5: 112,462,962 V530E probably damaging Het
Ubr4 T C 4: 139,473,178 I4655T possibly damaging Het
Zcwpw1 T C 5: 137,810,010 probably benign Het
Other mutations in Ccdc85c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Ccdc85c APN 12 108207844 missense probably damaging 1.00
IGL02061:Ccdc85c APN 12 108221743 missense probably damaging 1.00
IGL02516:Ccdc85c APN 12 108274901 missense unknown
IGL03146:Ccdc85c APN 12 108207136 nonsense probably null
FR4304:Ccdc85c UTSW 12 108274612 small insertion probably benign
FR4449:Ccdc85c UTSW 12 108274616 small insertion probably benign
R4685:Ccdc85c UTSW 12 108207175 missense probably benign 0.33
R5048:Ccdc85c UTSW 12 108221707 critical splice donor site probably null
R5516:Ccdc85c UTSW 12 108207850 missense probably damaging 1.00
R5588:Ccdc85c UTSW 12 108211534 missense probably damaging 1.00
R6054:Ccdc85c UTSW 12 108274769 missense unknown
R6318:Ccdc85c UTSW 12 108274709 missense unknown
Posted On2015-04-16