Incidental Mutation 'IGL02327:Ccdc66'
ID288531
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc66
Ensembl Gene ENSMUSG00000046753
Gene Namecoiled-coil domain containing 66
SynonymsE230015L20Rik
Accession Numbers

Genbank: NM_177111.3; Ensembl: ENSMUST00000050480

Is this an essential gene? Probably non essential (E-score: 0.138) question?
Stock #IGL02327
Quality Score
Status
Chromosome14
Chromosomal Location27481090-27508460 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 27493386 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 399 (A399V)
Ref Sequence ENSEMBL: ENSMUSP00000153023 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000050480] [ENSMUST00000223689]
Predicted Effect probably damaging
Transcript: ENSMUST00000050480
AA Change: A243V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000052546
Gene: ENSMUSG00000046753
AA Change: A243V

DomainStartEndE-ValueType
coiled coil region 252 284 N/A INTRINSIC
Pfam:CCDC66 409 561 1e-49 PFAM
low complexity region 715 721 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157990
Predicted Effect probably damaging
Transcript: ENSMUST00000223689
AA Change: A399V

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null mutation display slowly progressing photoreceptor degeneration. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Gene trapped(6)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd9 A T 12: 110,977,415 C29S probably damaging Het
Ccl12 A G 11: 82,103,122 I68M possibly damaging Het
Cd244 T C 1: 171,559,341 V6A probably benign Het
Cfap97 T A 8: 46,170,142 S190T probably damaging Het
Chic2 G T 5: 75,027,080 C106* probably null Het
Ctdsp2 G A 10: 126,996,382 D237N probably benign Het
Cyp2a22 A T 7: 26,934,781 M316K probably damaging Het
Cyp3a25 A G 5: 145,986,921 F304S possibly damaging Het
Ddc A T 11: 11,863,739 V209D probably damaging Het
Dhx16 A G 17: 35,883,825 K446R probably benign Het
Fgd3 T C 13: 49,285,798 K241E probably damaging Het
Hps1 G T 19: 42,756,345 probably benign Het
Inpp4b C T 8: 82,041,962 T700I probably benign Het
Kremen2 T A 17: 23,743,569 M157L probably benign Het
Lrwd1 T C 5: 136,123,464 Y582C probably damaging Het
Macf1 T A 4: 123,471,730 R1514S probably benign Het
Mex3c T A 18: 73,590,710 C625S probably damaging Het
Mical1 G A 10: 41,486,664 E932K possibly damaging Het
Ncf2 A T 1: 152,816,993 Y87F possibly damaging Het
Neo1 T C 9: 58,903,088 T1027A probably benign Het
Nfkbib G T 7: 28,759,143 P347Q probably benign Het
Nr1h2 G A 7: 44,551,500 probably benign Het
Olfr1158 A T 2: 87,990,257 I49F probably damaging Het
Olfr224 T A 11: 58,566,935 R137W probably damaging Het
Olfr384 A T 11: 73,603,155 T192S probably damaging Het
Oxct1 A G 15: 4,037,089 probably null Het
Pak1ip1 T G 13: 41,012,417 N308K probably benign Het
Prpf38a T C 4: 108,568,410 R224G unknown Het
Scfd1 T C 12: 51,389,317 V83A possibly damaging Het
Tmem131 C T 1: 36,799,022 G1545D probably damaging Het
Trav13n-4 A T 14: 53,364,110 probably benign Het
Ttc3 A G 16: 94,448,108 D1155G probably damaging Het
Unc80 G A 1: 66,641,673 V2143I probably benign Het
Vmn2r16 T C 5: 109,340,121 Y287H probably benign Het
Vmn2r59 A G 7: 42,012,231 V720A probably benign Het
Wars T A 12: 108,866,301 probably null Het
Wdcp A G 12: 4,851,115 K324E possibly damaging Het
Wdfy3 A T 5: 101,888,192 L2105H probably damaging Het
Xirp2 A T 2: 67,510,100 D895V probably damaging Het
Zscan10 A T 17: 23,607,572 probably benign Het
Other mutations in Ccdc66
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Ccdc66 APN 14 27498456 missense probably damaging 1.00
IGL01333:Ccdc66 APN 14 27493315 missense possibly damaging 0.60
IGL01684:Ccdc66 APN 14 27500249 missense possibly damaging 0.66
IGL02668:Ccdc66 APN 14 27497341 missense possibly damaging 0.94
IGL02698:Ccdc66 APN 14 27490792 nonsense probably null
IGL03293:Ccdc66 APN 14 27490671 missense probably damaging 1.00
1mM(1):Ccdc66 UTSW 14 27498775 missense possibly damaging 0.75
IGL02796:Ccdc66 UTSW 14 27486566 missense possibly damaging 0.93
R0374:Ccdc66 UTSW 14 27498473 missense probably damaging 1.00
R0381:Ccdc66 UTSW 14 27491933 missense probably damaging 1.00
R0498:Ccdc66 UTSW 14 27500240 critical splice donor site probably null
R0831:Ccdc66 UTSW 14 27497356 missense probably benign 0.00
R0969:Ccdc66 UTSW 14 27497362 missense probably damaging 0.98
R1558:Ccdc66 UTSW 14 27486506 missense probably benign 0.41
R2203:Ccdc66 UTSW 14 27486833 missense probably benign 0.03
R4015:Ccdc66 UTSW 14 27483836 missense probably damaging 1.00
R4225:Ccdc66 UTSW 14 27490779 missense probably damaging 1.00
R4584:Ccdc66 UTSW 14 27500511 missense probably benign 0.31
R4600:Ccdc66 UTSW 14 27500420 missense probably damaging 1.00
R4601:Ccdc66 UTSW 14 27500420 missense probably damaging 1.00
R4603:Ccdc66 UTSW 14 27500420 missense probably damaging 1.00
R4610:Ccdc66 UTSW 14 27500420 missense probably damaging 1.00
R4611:Ccdc66 UTSW 14 27500420 missense probably damaging 1.00
R4832:Ccdc66 UTSW 14 27500567 missense probably benign 0.00
R5098:Ccdc66 UTSW 14 27498793 missense probably damaging 1.00
R5322:Ccdc66 UTSW 14 27482527 missense probably damaging 1.00
R5586:Ccdc66 UTSW 14 27506711 missense probably damaging 1.00
R5681:Ccdc66 UTSW 14 27486741 missense probably benign 0.07
R5788:Ccdc66 UTSW 14 27498491 missense probably benign 0.10
R5790:Ccdc66 UTSW 14 27500447 missense possibly damaging 0.62
R6329:Ccdc66 UTSW 14 27486484 missense probably benign 0.20
Posted On2015-04-16