Incidental Mutation 'R4453:Ccdc86'
ID 329065
Institutional Source Beutler Lab
Gene Symbol Ccdc86
Ensembl Gene ENSMUSG00000024732
Gene Name coiled-coil domain containing 86
Synonyms 6720480F16Rik, 4933411H20Rik, D19Ertd678e, cyclon
MMRRC Submission 041152-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4453 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 10918845-10926630 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 10925883 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Threonine at position 239 (P239T)
Ref Sequence ENSEMBL: ENSMUSP00000025639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025639]
AlphaFold Q9JJ89
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

DomainStartEndE-ValueType
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: 93,322,075 (GRCm39) D361G probably damaging Het
Atp10a TGGCGGCGGC TGGCGGC 7: 58,308,248 (GRCm39) probably benign Het
Ces2h G A 8: 105,741,288 (GRCm39) probably null Het
Ckap5 T A 2: 91,379,190 (GRCm39) S43R probably damaging Het
Cpne6 G A 14: 55,750,054 (GRCm39) V62M probably damaging Het
Dmbt1 T C 7: 130,642,664 (GRCm39) C161R probably damaging Het
Dnajc10 T C 2: 80,176,967 (GRCm39) S641P probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Grm2 G A 9: 106,531,078 (GRCm39) T137I probably damaging Het
Gusb A G 5: 130,027,324 (GRCm39) V327A possibly damaging Het
Helz C T 11: 107,563,455 (GRCm39) Q1631* probably null Het
Hspa1a A G 17: 35,189,269 (GRCm39) Y545H probably benign Het
Hus1 A T 11: 8,956,035 (GRCm39) M166K probably damaging Het
Kcnh1 C A 1: 192,187,825 (GRCm39) T762K probably damaging Het
Limd1 C A 9: 123,309,359 (GRCm39) Q353K possibly damaging Het
Lipe T A 7: 25,097,115 (GRCm39) K276I probably damaging Het
Ntpcr G A 8: 126,462,929 (GRCm39) V49I probably benign Het
Or6c70 T C 10: 129,710,530 (GRCm39) N32S probably null Het
Ppp1r1c A G 2: 79,538,575 (GRCm39) I20V possibly damaging Het
Prdm13 G T 4: 21,679,464 (GRCm39) A342E unknown Het
Prkd3 C A 17: 79,290,975 (GRCm39) R180L probably damaging Het
Prune2 T C 19: 17,099,274 (GRCm39) F1593L probably benign Het
Rims2 T A 15: 39,155,603 (GRCm39) C95S probably damaging Het
Stard9 A G 2: 120,528,272 (GRCm39) M1510V probably benign Het
Taf12 A G 4: 132,010,306 (GRCm39) I92V probably benign Het
Tma16 C T 8: 66,936,823 (GRCm39) probably null Het
Tssk5 G A 15: 76,258,743 (GRCm39) R48C probably benign Het
Wwtr1 T C 3: 57,482,680 (GRCm39) probably null Het
Zfp286 C G 11: 62,671,030 (GRCm39) G348R probably damaging Het
Zfp473 T A 7: 44,382,678 (GRCm39) T552S probably damaging Het
Zzef1 T C 11: 72,763,465 (GRCm39) F1371L probably benign Het
Other mutations in Ccdc86
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02317:Ccdc86 APN 19 10,920,556 (GRCm39) missense possibly damaging 0.61
BB006:Ccdc86 UTSW 19 10,926,183 (GRCm39) missense unknown
BB016:Ccdc86 UTSW 19 10,926,183 (GRCm39) missense unknown
R5541:Ccdc86 UTSW 19 10,925,918 (GRCm39) missense probably damaging 1.00
R6180:Ccdc86 UTSW 19 10,925,945 (GRCm39) missense possibly damaging 0.63
R6471:Ccdc86 UTSW 19 10,926,243 (GRCm39) missense unknown
R7647:Ccdc86 UTSW 19 10,926,363 (GRCm39) missense unknown
R7929:Ccdc86 UTSW 19 10,926,183 (GRCm39) missense unknown
R8981:Ccdc86 UTSW 19 10,926,162 (GRCm39) small deletion probably benign
R9246:Ccdc86 UTSW 19 10,926,162 (GRCm39) small deletion probably benign
Predicted Primers PCR Primer
(F):5'- CCCTTTCGGAATTACAGGAAGC -3'
(R):5'- GGTCCCTTCAACCTCATCAAG -3'

Sequencing Primer
(F):5'- GGAAGCTCCTCCTTCTCTTTC -3'
(R):5'- TCATCAAGATCTGGGCCTGGAG -3'
Posted On 2015-07-21