Incidental Mutation 'IGL03124:Ccdc87'
ID410102
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc87
Ensembl Gene ENSMUSG00000067872
Gene Namecoiled-coil domain containing 87
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.051) question?
Stock #IGL03124
Quality Score
Status
Chromosome19
Chromosomal Location4839366-4842528 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 4841054 bp
ZygosityHeterozygous
Amino Acid Change Serine to Alanine at position 525 (S525A)
Ref Sequence ENSEMBL: ENSMUSP00000086028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037246] [ENSMUST00000088653]
Predicted Effect probably benign
Transcript: ENSMUST00000037246
SMART Domains Protein: ENSMUSP00000035486
Gene: ENSMUSG00000034108

DomainStartEndE-ValueType
Pfam:HMA 15 72 2.4e-12 PFAM
Pfam:Sod_Cu 93 230 6.7e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000088653
AA Change: S525A

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000086028
Gene: ENSMUSG00000067872
AA Change: S525A

DomainStartEndE-ValueType
low complexity region 25 38 N/A INTRINSIC
low complexity region 287 296 N/A INTRINSIC
low complexity region 326 341 N/A INTRINSIC
low complexity region 373 386 N/A INTRINSIC
low complexity region 619 632 N/A INTRINSIC
Pfam:MAP65_ASE1 669 855 2.1e-17 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik T C 4: 41,507,287 N170D possibly damaging Het
1700018B08Rik C A 8: 121,541,710 probably benign Het
4931414P19Rik A G 14: 54,595,139 V193A probably benign Het
Acap3 T C 4: 155,905,033 S645P probably benign Het
Alms1 A G 6: 85,678,419 I3316V probably benign Het
Apc T G 18: 34,299,985 H424Q probably damaging Het
BC003331 A G 1: 150,386,425 V88A probably benign Het
Camsap2 A T 1: 136,274,799 probably null Het
Car13 C T 3: 14,656,940 P182L possibly damaging Het
Ces1f T C 8: 93,275,384 N39D probably benign Het
Cyp2j13 C A 4: 96,061,922 A281S possibly damaging Het
Cyp4f15 G A 17: 32,685,812 probably null Het
Fam208b A T 13: 3,574,704 Y1749N probably benign Het
Fat4 C A 3: 38,981,552 R3118S possibly damaging Het
Glg1 C T 8: 111,200,171 V171M probably damaging Het
Hivep1 G T 13: 42,158,904 G1540V possibly damaging Het
Ighm T C 12: 113,421,638 D234G unknown Het
Igsf10 T C 3: 59,319,665 T2196A probably benign Het
Kctd19 T A 8: 105,387,070 Q657L possibly damaging Het
Klhl40 T A 9: 121,780,685 I512N probably damaging Het
Lima1 A T 15: 99,796,734 probably benign Het
Map2k4 A C 11: 65,690,791 I365S probably damaging Het
Mast4 T A 13: 102,738,245 K1346N probably damaging Het
Met T A 6: 17,492,078 F280I probably benign Het
Ncapg A G 5: 45,671,209 T101A probably benign Het
Nup214 T C 2: 31,996,440 F605L probably benign Het
Olfr291 T A 7: 84,856,723 M118K probably damaging Het
Olfr639 G T 7: 104,011,794 Q303K probably benign Het
Olfr873 T A 9: 20,301,163 M322K probably benign Het
Pck2 C T 14: 55,545,333 T373I probably damaging Het
Pcna C T 2: 132,251,753 E109K probably benign Het
Pecr A C 1: 72,277,340 S69A probably benign Het
Pitpnb A G 5: 111,330,830 E6G possibly damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Plbd2 A T 5: 120,493,077 F212I possibly damaging Het
Rfk T A 19: 17,398,595 H84Q possibly damaging Het
Scp2 T A 4: 108,063,906 I36F probably damaging Het
Slc9a4 A G 1: 40,580,735 T74A probably damaging Het
St6galnac1 G A 11: 116,775,299 A35V probably benign Het
Tmem8 G A 17: 26,116,834 R65Q probably damaging Het
Trav17 T C 14: 53,806,649 V4A probably benign Het
Vmn1r57 A T 7: 5,221,022 H182L possibly damaging Het
Vwa8 A T 14: 79,058,815 probably benign Het
Zgpat A G 2: 181,366,180 Y170C probably benign Het
Other mutations in Ccdc87
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02321:Ccdc87 APN 19 4841031 missense probably damaging 1.00
IGL02754:Ccdc87 APN 19 4839861 missense probably damaging 1.00
IGL03151:Ccdc87 APN 19 4841557 missense probably benign 0.01
R1572:Ccdc87 UTSW 19 4840313 missense probably benign 0.03
R2031:Ccdc87 UTSW 19 4841687 missense probably damaging 1.00
R3714:Ccdc87 UTSW 19 4840259 missense probably benign 0.00
R3734:Ccdc87 UTSW 19 4841923 missense probably damaging 1.00
R3854:Ccdc87 UTSW 19 4839518 missense probably benign 0.36
R4643:Ccdc87 UTSW 19 4841849 missense probably damaging 1.00
R4820:Ccdc87 UTSW 19 4840551 missense probably damaging 1.00
R5039:Ccdc87 UTSW 19 4840401 splice site probably null
R5634:Ccdc87 UTSW 19 4840665 missense probably benign 0.00
R5659:Ccdc87 UTSW 19 4840850 missense probably damaging 0.99
R6065:Ccdc87 UTSW 19 4841240 missense probably benign
R6237:Ccdc87 UTSW 19 4841379 missense probably benign 0.15
R6337:Ccdc87 UTSW 19 4839801 missense probably benign 0.00
R6349:Ccdc87 UTSW 19 4841319 missense probably damaging 1.00
R6429:Ccdc87 UTSW 19 4841235 missense probably benign 0.06
R6520:Ccdc87 UTSW 19 4841789 missense probably damaging 0.99
R7131:Ccdc87 UTSW 19 4841757 missense probably damaging 1.00
R7237:Ccdc87 UTSW 19 4839762 missense probably benign 0.00
R7349:Ccdc87 UTSW 19 4841840 missense probably damaging 0.98
R7848:Ccdc87 UTSW 19 4841508 missense probably damaging 1.00
R8382:Ccdc87 UTSW 19 4839990 missense possibly damaging 0.88
R8421:Ccdc87 UTSW 19 4841285 missense possibly damaging 0.79
R8560:Ccdc87 UTSW 19 4841873 missense probably damaging 1.00
R8747:Ccdc87 UTSW 19 4841618 missense probably benign 0.01
Z1088:Ccdc87 UTSW 19 4840722 missense probably benign 0.02
Z1176:Ccdc87 UTSW 19 4841923 nonsense probably null
Posted On2016-08-02