Incidental Mutation 'R4453:Ccdc86'
Institutional Source Beutler Lab
Gene Symbol Ccdc86
Ensembl Gene ENSMUSG00000024732
Gene Namecoiled-coil domain containing 86
Synonyms4933411H20Rik, 6720480F16Rik, D19Ertd678e, cyclon
MMRRC Submission 041152-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4453 (G1)
Quality Score225
Status Not validated
Chromosomal Location10941481-10949266 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 10948519 bp
Amino Acid Change Proline to Threonine at position 239 (P239T)
Ref Sequence ENSEMBL: ENSMUSP00000025639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025639]
Predicted Effect probably damaging
Transcript: ENSMUST00000025639
AA Change: P239T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000025639
Gene: ENSMUSG00000024732
AA Change: P239T

low complexity region 53 64 N/A INTRINSIC
low complexity region 67 84 N/A INTRINSIC
low complexity region 87 104 N/A INTRINSIC
low complexity region 107 124 N/A INTRINSIC
low complexity region 127 144 N/A INTRINSIC
low complexity region 187 201 N/A INTRINSIC
coiled coil region 338 389 N/A INTRINSIC
low complexity region 392 400 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189018
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.6%
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice are embryonic lethal. CD4 T cells in heterozygote mice are resistant to activation induced cell death. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano7 A G 1: 93,394,353 D361G probably damaging Het
Atp10a TGGCGGCGGC TGGCGGC 7: 58,658,500 probably benign Het
Ces2h G A 8: 105,014,656 probably null Het
Ckap5 T A 2: 91,548,845 S43R probably damaging Het
Cpne6 G A 14: 55,512,597 V62M probably damaging Het
Dmbt1 T C 7: 131,040,934 C161R probably damaging Het
Dnajc10 T C 2: 80,346,623 S641P probably damaging Het
Fat3 G A 9: 15,998,271 S2145F probably damaging Het
Grm2 G A 9: 106,653,879 T137I probably damaging Het
Gusb A G 5: 129,998,483 V327A possibly damaging Het
Helz C T 11: 107,672,629 Q1631* probably null Het
Hspa1a A G 17: 34,970,293 Y545H probably benign Het
Hus1 A T 11: 9,006,035 M166K probably damaging Het
Kcnh1 C A 1: 192,505,517 T762K probably damaging Het
Limd1 C A 9: 123,480,294 Q353K possibly damaging Het
Lipe T A 7: 25,397,690 K276I probably damaging Het
Ntpcr G A 8: 125,736,190 V49I probably benign Het
Olfr814 T C 10: 129,874,661 N32S probably null Het
Ppp1r1c A G 2: 79,708,231 I20V possibly damaging Het
Prdm13 G T 4: 21,679,464 A342E unknown Het
Prkd3 C A 17: 78,983,546 R180L probably damaging Het
Prune2 T C 19: 17,121,910 F1593L probably benign Het
Rims2 T A 15: 39,292,208 C95S probably damaging Het
Stard9 A G 2: 120,697,791 M1510V probably benign Het
Taf12 A G 4: 132,282,995 I92V probably benign Het
Tma16 C T 8: 66,484,171 probably null Het
Tssk5 G A 15: 76,374,543 R48C probably benign Het
Wwtr1 T C 3: 57,575,259 probably null Het
Zfp286 C G 11: 62,780,204 G348R probably damaging Het
Zfp473 T A 7: 44,733,254 T552S probably damaging Het
Zzef1 T C 11: 72,872,639 F1371L probably benign Het
Other mutations in Ccdc86
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02317:Ccdc86 APN 19 10943192 missense possibly damaging 0.61
R5541:Ccdc86 UTSW 19 10948554 missense probably damaging 1.00
R6180:Ccdc86 UTSW 19 10948581 missense possibly damaging 0.63
R6471:Ccdc86 UTSW 19 10948879 missense unknown
Predicted Primers PCR Primer

Sequencing Primer
Posted On2015-07-21