Incidental Mutation 'R3734:Ccdc87'
ID 270022
Institutional Source Beutler Lab
Gene Symbol Ccdc87
Ensembl Gene ENSMUSG00000067872
Gene Name coiled-coil domain containing 87
Synonyms 4931419P11Rik
MMRRC Submission 040721-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.051) question?
Stock # R3734 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 4889394-4892556 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 4891951 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Cysteine at position 814 (W814C)
Ref Sequence ENSEMBL: ENSMUSP00000086028 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037246] [ENSMUST00000088653]
AlphaFold Q8CDL9
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: W814C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086028
Gene: ENSMUSG00000067872
AA Change: W814C

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
Meta Mutation Damage Score 0.6584 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.9%
Validation Efficiency 95% (41/43)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700049A03Rik G T 12: 71,211,320 (GRCm39) E685* probably null Het
2700049A03Rik A T 12: 71,211,321 (GRCm39) E685V possibly damaging Het
Ablim1 A T 19: 57,037,892 (GRCm39) probably null Het
Blvra A T 2: 126,932,175 (GRCm39) probably benign Het
Cyp2a4 A G 7: 26,012,252 (GRCm39) D345G probably damaging Het
Dsg2 T C 18: 20,735,004 (GRCm39) V994A probably benign Het
Edem1 T C 6: 108,818,582 (GRCm39) F197L probably damaging Het
Eps8l2 A C 7: 140,937,734 (GRCm39) Y418S probably damaging Het
Ergic2 T C 6: 148,104,020 (GRCm39) D79G probably damaging Het
Fcgr3 T C 1: 170,885,443 (GRCm39) M60V probably benign Het
Gldn A G 9: 54,245,946 (GRCm39) K499R possibly damaging Het
Golga1 G T 2: 38,940,182 (GRCm39) Q141K possibly damaging Het
Ift122 A G 6: 115,902,462 (GRCm39) probably benign Het
Iqcg G T 16: 32,873,996 (GRCm39) probably benign Het
Itga1 T C 13: 115,114,175 (GRCm39) H910R probably benign Het
Jak3 C A 8: 72,129,225 (GRCm39) probably benign Het
Jrkl A G 9: 13,245,535 (GRCm39) V42A possibly damaging Het
Kif2c T C 4: 117,019,843 (GRCm39) S515G probably benign Het
Lag3 A T 6: 124,887,103 (GRCm39) S155T probably benign Het
Lsamp T C 16: 41,965,133 (GRCm39) I330T probably benign Het
Map3k6 T C 4: 132,975,707 (GRCm39) S732P possibly damaging Het
Muc5b C T 7: 141,412,774 (GRCm39) Q1907* probably null Het
Nap1l4 A C 7: 143,088,132 (GRCm39) probably benign Het
Nipal3 T C 4: 135,191,157 (GRCm39) T325A probably damaging Het
Nol4 A T 18: 22,903,921 (GRCm39) probably benign Het
Or2l13b T A 16: 19,349,398 (GRCm39) I91F probably damaging Het
Otog A G 7: 45,937,792 (GRCm39) T1834A probably benign Het
Panx1 GTTCTTCT GTTCT 9: 14,917,467 (GRCm39) probably benign Het
Pbld2 T C 10: 62,907,244 (GRCm39) L161P probably damaging Het
Pcdha6 T A 18: 37,102,454 (GRCm39) V549E probably damaging Het
Robo2 A C 16: 73,717,635 (GRCm39) L1159W possibly damaging Het
Scmh1 T A 4: 120,335,277 (GRCm39) I154N probably damaging Het
Skor1 A T 9: 63,047,350 (GRCm39) L879Q probably damaging Het
Slc1a7 G C 4: 107,834,841 (GRCm39) R69P probably damaging Het
Stk4 T A 2: 163,930,828 (GRCm39) M143K probably benign Het
Tenm1 C T X: 41,772,944 (GRCm39) V1023M probably benign Het
Tpte G A 8: 22,849,498 (GRCm39) C575Y probably damaging Het
Ulk4 T C 9: 121,091,055 (GRCm39) K216E probably benign Het
Unc5d T C 8: 29,251,826 (GRCm39) I216V probably benign Het
Vmn2r16 T C 5: 109,478,280 (GRCm39) S12P probably benign Het
Other mutations in Ccdc87
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02321:Ccdc87 APN 19 4,891,059 (GRCm39) missense probably damaging 1.00
IGL02754:Ccdc87 APN 19 4,889,889 (GRCm39) missense probably damaging 1.00
IGL03124:Ccdc87 APN 19 4,891,082 (GRCm39) missense probably damaging 0.99
IGL03151:Ccdc87 APN 19 4,891,585 (GRCm39) missense probably benign 0.01
R1572:Ccdc87 UTSW 19 4,890,341 (GRCm39) missense probably benign 0.03
R2031:Ccdc87 UTSW 19 4,891,715 (GRCm39) missense probably damaging 1.00
R3714:Ccdc87 UTSW 19 4,890,287 (GRCm39) missense probably benign 0.00
R3854:Ccdc87 UTSW 19 4,889,546 (GRCm39) missense probably benign 0.36
R4643:Ccdc87 UTSW 19 4,891,877 (GRCm39) missense probably damaging 1.00
R4820:Ccdc87 UTSW 19 4,890,579 (GRCm39) missense probably damaging 1.00
R5039:Ccdc87 UTSW 19 4,890,429 (GRCm39) splice site probably null
R5634:Ccdc87 UTSW 19 4,890,693 (GRCm39) missense probably benign 0.00
R5659:Ccdc87 UTSW 19 4,890,878 (GRCm39) missense probably damaging 0.99
R6065:Ccdc87 UTSW 19 4,891,268 (GRCm39) missense probably benign
R6237:Ccdc87 UTSW 19 4,891,407 (GRCm39) missense probably benign 0.15
R6337:Ccdc87 UTSW 19 4,889,829 (GRCm39) missense probably benign 0.00
R6349:Ccdc87 UTSW 19 4,891,347 (GRCm39) missense probably damaging 1.00
R6429:Ccdc87 UTSW 19 4,891,263 (GRCm39) missense probably benign 0.06
R6520:Ccdc87 UTSW 19 4,891,817 (GRCm39) missense probably damaging 0.99
R7131:Ccdc87 UTSW 19 4,891,785 (GRCm39) missense probably damaging 1.00
R7237:Ccdc87 UTSW 19 4,889,790 (GRCm39) missense probably benign 0.00
R7349:Ccdc87 UTSW 19 4,891,868 (GRCm39) missense probably damaging 0.98
R7848:Ccdc87 UTSW 19 4,891,536 (GRCm39) missense probably damaging 1.00
R8382:Ccdc87 UTSW 19 4,890,018 (GRCm39) missense possibly damaging 0.88
R8421:Ccdc87 UTSW 19 4,891,313 (GRCm39) missense possibly damaging 0.79
R8560:Ccdc87 UTSW 19 4,891,901 (GRCm39) missense probably damaging 1.00
R8747:Ccdc87 UTSW 19 4,891,646 (GRCm39) missense probably benign 0.01
R9457:Ccdc87 UTSW 19 4,891,659 (GRCm39) missense probably damaging 1.00
R9679:Ccdc87 UTSW 19 4,891,299 (GRCm39) missense probably benign 0.05
R9803:Ccdc87 UTSW 19 4,891,175 (GRCm39) missense probably benign 0.00
Z1088:Ccdc87 UTSW 19 4,890,750 (GRCm39) missense probably benign 0.02
Z1176:Ccdc87 UTSW 19 4,891,951 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CAAGCCTCTGATCCCAATCG -3'
(R):5'- GTCATTGAGAGTTCTACGTGAGC -3'

Sequencing Primer
(F):5'- GATCCCAATCGTTTCTTCCAAAAG -3'
(R):5'- CATTGAGAGTTCTACGTGAGCATTTG -3'
Posted On 2015-03-18