Incidental Mutation 'IGL02061:Ccdc85c'
ID185401
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 #IGL02061
Quality Score
Status
Chromosome12
Chromosomal Location108203602-108275425 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108221743 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 279 (V279A)
Ref Sequence ENSEMBL: ENSMUSP00000152421 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000136175] [ENSMUST00000222310]
Predicted Effect possibly damaging
Transcript: ENSMUST00000136175
AA Change: V279A

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125757
Gene: ENSMUSG00000084883
AA Change: V279A

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: V279A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; 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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arl15 T A 13: 113,794,657 D3E probably benign Het
Atp4a A G 7: 30,715,029 Y159C probably damaging Het
Card10 A G 15: 78,778,215 F861S probably damaging Het
Cndp1 G A 18: 84,634,626 R136W probably damaging Het
Eif2b3 A G 4: 117,028,411 E50G possibly damaging Het
Eva1c C T 16: 90,866,275 Q67* probably null Het
Exoc1 A G 5: 76,542,120 E169G probably damaging Het
Fam189b C T 3: 89,188,596 R545* probably null Het
Fsd2 T A 7: 81,540,424 K537* probably null Het
Gbf1 T G 19: 46,279,258 S1236A possibly damaging Het
Gpt C A 15: 76,699,417 probably benign Het
Gsap A G 5: 21,281,611 probably benign Het
Hdac6 A C X: 7,943,639 probably null Het
Ivns1abp T A 1: 151,351,573 L44Q probably damaging Het
Kcnt1 T A 2: 25,900,482 probably null Het
Kdm2b A G 5: 122,883,341 I58T probably damaging Het
Mrpl23 C T 7: 142,540,582 P76S probably benign Het
Nbea A G 3: 55,717,887 I2261T possibly damaging Het
Oasl1 G A 5: 114,923,592 V61M probably damaging Het
Olfr1288 T A 2: 111,479,269 F162I possibly damaging Het
Pabpc2 A G 18: 39,774,993 Q437R probably benign Het
Ppp1r26 T A 2: 28,450,627 C90S possibly damaging Het
Ppp3ca A G 3: 136,797,863 T66A probably benign Het
Prss55 A G 14: 64,075,743 Y231H possibly damaging Het
Psmb10 T C 8: 105,937,711 T38A probably damaging Het
Rfx5 A G 3: 94,958,481 T364A probably benign Het
Scgb2b26 T C 7: 33,943,185 N107S probably benign Het
Seh1l A G 18: 67,787,258 probably benign Het
Sod1 T A 16: 90,225,238 H111Q probably benign Het
Thbs2 A T 17: 14,679,914 D592E probably benign Het
Tmem67 G A 4: 12,053,526 A740V probably damaging Het
Tra2a A G 6: 49,249,098 V136A possibly damaging Het
Ttc37 T A 13: 76,129,541 probably null Het
Utp18 T C 11: 93,882,141 D158G probably benign Het
Zfp524 A G 7: 5,017,872 E133G probably damaging Het
Other mutations in Ccdc85c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01916:Ccdc85c APN 12 108207844 missense probably damaging 1.00
IGL02316:Ccdc85c APN 12 108211570 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 On2014-05-07