Incidental Mutation 'IGL02317:Ccdc86'
ID 288068
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccdc86
Ensembl Gene ENSMUSG00000024732
Gene Name coiled-coil domain containing 86
Synonyms 6720480F16Rik, 4933411H20Rik, D19Ertd678e, cyclon
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02317
Quality Score
Status
Chromosome 19
Chromosomal Location 10918845-10926630 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10920556 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 420 (Q420R)
Ref Sequence ENSEMBL: ENSMUSP00000025639 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025639] [ENSMUST00000037261]
AlphaFold Q9JJ89
Predicted Effect possibly damaging
Transcript: ENSMUST00000025639
AA Change: Q420R

PolyPhen 2 Score 0.608 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025639
Gene: ENSMUSG00000024732
AA Change: Q420R

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 probably benign
Transcript: ENSMUST00000037261
SMART Domains Protein: ENSMUSP00000036159
Gene: ENSMUSG00000034117

DomainStartEndE-ValueType
low complexity region 32 46 N/A INTRINSIC
Pfam:7tm_1 48 303 7.5e-39 PFAM
low complexity region 339 356 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133836
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189018
Coding Region Coverage
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019M22Rik T C 12: 96,013,780 (GRCm39) noncoding transcript Het
Aadacl2fm3 A G 3: 59,784,408 (GRCm39) N294D probably benign Het
Aak1 C T 6: 86,933,282 (GRCm39) P418S possibly damaging Het
Abca5 T A 11: 110,218,587 (GRCm39) Q93L probably benign Het
Arhgap22 G T 14: 33,081,230 (GRCm39) V209L probably damaging Het
Atp6v1h G T 1: 5,154,693 (GRCm39) R7L possibly damaging Het
Cep85 C T 4: 133,883,122 (GRCm39) G256R probably damaging Het
Csmd2 T C 4: 128,357,520 (GRCm39) probably benign Het
Dck T C 5: 88,921,942 (GRCm39) Y135H probably damaging Het
Dicer1 T C 12: 104,663,279 (GRCm39) E1434G probably damaging Het
Dst C T 1: 34,334,244 (GRCm39) T4824I probably damaging Het
Fam20c G A 5: 138,792,115 (GRCm39) R404H probably damaging Het
Fat1 G A 8: 45,478,855 (GRCm39) A2611T probably benign Het
Fbxl13 C T 5: 21,727,232 (GRCm39) C555Y probably benign Het
Gprc6a C A 10: 51,497,049 (GRCm39) R323L probably benign Het
Grik2 A G 10: 49,298,711 (GRCm39) F50L probably benign Het
Ibsp A G 5: 104,450,332 (GRCm39) Y50C probably damaging Het
Il16 T A 7: 83,316,097 (GRCm39) H437L probably damaging Het
Irf9 G A 14: 55,845,196 (GRCm39) R352H probably damaging Het
Jph1 T C 1: 17,074,147 (GRCm39) T624A probably benign Het
Lama5 T C 2: 179,833,112 (GRCm39) Y1574C probably damaging Het
Lrrc26 A G 2: 25,180,314 (GRCm39) N105S probably damaging Het
Megf8 C A 7: 25,063,213 (GRCm39) T2523K probably damaging Het
Nckap1l A G 15: 103,370,005 (GRCm39) I135V probably benign Het
Oma1 A G 4: 103,176,234 (GRCm39) probably benign Het
Opa1 T G 16: 29,433,984 (GRCm39) probably null Het
Or13j1 T C 4: 43,706,172 (GRCm39) Y132C probably damaging Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Or5m3b T C 2: 85,871,913 (GRCm39) S85P probably damaging Het
Or8b48 C T 9: 38,492,809 (GRCm39) P79S probably damaging Het
Rab11b C T 17: 33,968,790 (GRCm39) A43T probably damaging Het
Rabl2 A T 15: 89,468,492 (GRCm39) N133K probably damaging Het
Scn10a C T 9: 119,467,621 (GRCm39) V840I probably benign Het
Spata31d1b T C 13: 59,865,854 (GRCm39) S1001P probably damaging Het
Tbc1d8 T C 1: 39,415,985 (GRCm39) E896G probably benign Het
Ube2o T C 11: 116,432,389 (GRCm39) E859G probably damaging Het
Vmn1r197 A G 13: 22,512,073 (GRCm39) probably benign Het
Vmn2r58 A G 7: 41,486,765 (GRCm39) I710T possibly damaging Het
Zmynd8 T C 2: 165,662,492 (GRCm39) T533A possibly damaging Het
Other mutations in Ccdc86
AlleleSourceChrCoordTypePredicted EffectPPH Score
BB006:Ccdc86 UTSW 19 10,926,183 (GRCm39) missense unknown
BB016:Ccdc86 UTSW 19 10,926,183 (GRCm39) missense unknown
R4453:Ccdc86 UTSW 19 10,925,883 (GRCm39) missense probably damaging 1.00
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
Posted On 2015-04-16