Incidental Mutation 'R0801:Ccdc81'
ID 359745
Institutional Source Beutler Lab
Gene Symbol Ccdc81
Ensembl Gene ENSMUSG00000039391
Gene Name coiled-coil domain containing 81
Synonyms 4921513D09Rik
MMRRC Submission 038981-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R0801 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 89515356-89552837 bp(-) (GRCm39)
Type of Mutation splice site (24 bp from exon)
DNA Base Change (assembly) T to C at 89536866 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000044087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041195] [ENSMUST00000131966]
AlphaFold Q9D5W4
Predicted Effect probably null
Transcript: ENSMUST00000041195
SMART Domains Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391

DomainStartEndE-ValueType
Pfam:DUF4496 29 165 2.7e-47 PFAM
low complexity region 224 233 N/A INTRINSIC
low complexity region 344 355 N/A INTRINSIC
coiled coil region 434 468 N/A INTRINSIC
low complexity region 623 631 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131966
SMART Domains Protein: ENSMUSP00000117788
Gene: ENSMUSG00000039391

DomainStartEndE-ValueType
Pfam:DUF4496 28 165 2e-41 PFAM
Coding Region Coverage
  • 1x: 99.7%
  • 3x: 99.2%
  • 10x: 97.6%
  • 20x: 94.7%
Validation Efficiency 98% (48/49)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik A G 10: 43,050,987 (GRCm39) K94E possibly damaging Het
Aldh16a1 A T 7: 44,796,900 (GRCm39) C228S probably benign Het
Arnt G T 3: 95,401,157 (GRCm39) R702L possibly damaging Het
Ccdc174 A G 6: 91,872,313 (GRCm39) E314G possibly damaging Het
Ccdc92 T C 5: 124,913,335 (GRCm39) T65A probably benign Het
Cenpm A T 15: 82,118,667 (GRCm39) I149N probably benign Het
Cfap44 C T 16: 44,242,849 (GRCm39) S751L probably benign Het
Cntrl A G 2: 35,065,107 (GRCm39) probably benign Het
Col1a2 A G 6: 4,531,316 (GRCm39) T762A unknown Het
Crebbp T C 16: 3,906,140 (GRCm39) K1621E probably damaging Het
Cux1 T A 5: 136,355,783 (GRCm39) I374L probably damaging Het
Dgkq A T 5: 108,808,586 (GRCm39) probably null Het
Dis3l T C 9: 64,226,436 (GRCm39) I365V probably benign Het
Dock2 T C 11: 34,599,620 (GRCm39) R320G probably damaging Het
Dst A G 1: 34,209,470 (GRCm39) N853S probably damaging Het
Egf T C 3: 129,496,234 (GRCm39) probably benign Het
Eif2ak2 T A 17: 79,173,778 (GRCm39) R267* probably null Het
Ern2 A G 7: 121,780,085 (GRCm39) probably benign Het
Ero1b A G 13: 12,596,568 (GRCm39) S123G probably benign Het
Fam13a G T 6: 58,960,997 (GRCm39) N118K probably benign Het
Gcn1 T A 5: 115,729,065 (GRCm39) M792K probably benign Het
Iqca1 C A 1: 90,070,453 (GRCm39) G133V probably null Het
Irf3 C T 7: 44,650,058 (GRCm39) probably benign Het
Map2k5 T A 9: 63,265,261 (GRCm39) probably benign Het
Mcf2l T A 8: 13,064,020 (GRCm39) probably benign Het
Mdga2 A T 12: 66,533,507 (GRCm39) I878K probably damaging Het
Mdn1 T C 4: 32,668,895 (GRCm39) S318P probably benign Het
Or13a19 G A 7: 139,902,831 (GRCm39) C73Y probably damaging Het
Or5aq1b G A 2: 86,902,407 (GRCm39) Q24* probably null Het
Pklr G A 3: 89,052,829 (GRCm39) W527* probably null Het
Pnpla5 T C 15: 83,998,121 (GRCm39) M374V probably benign Het
Ptprn G T 1: 75,228,909 (GRCm39) H835Q probably damaging Het
R3hdm4 A G 10: 79,749,191 (GRCm39) probably benign Het
Rgs8 T A 1: 153,546,557 (GRCm39) C19S probably damaging Het
Smarca4 C A 9: 21,553,850 (GRCm39) Q575K possibly damaging Het
Srgap1 A T 10: 121,643,780 (GRCm39) F612L probably damaging Het
Svil A G 18: 5,099,443 (GRCm39) R1256G probably benign Het
Tox4 T C 14: 52,517,335 (GRCm39) S22P probably benign Het
Ttc39d A G 17: 80,523,644 (GRCm39) Y101C probably damaging Het
Usb1 T C 8: 96,060,168 (GRCm39) probably null Het
Vps13a T C 19: 16,664,020 (GRCm39) probably benign Het
Vps26a G A 10: 62,294,857 (GRCm39) probably benign Het
Zfp638 T A 6: 83,949,220 (GRCm39) probably benign Het
Other mutations in Ccdc81
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00763:Ccdc81 APN 7 89,518,823 (GRCm39) splice site probably benign
IGL01948:Ccdc81 APN 7 89,525,063 (GRCm39) missense possibly damaging 0.80
IGL02177:Ccdc81 APN 7 89,524,988 (GRCm39) missense possibly damaging 0.94
IGL02396:Ccdc81 APN 7 89,530,857 (GRCm39) missense probably benign
IGL02420:Ccdc81 APN 7 89,524,946 (GRCm39) missense probably benign 0.16
IGL02536:Ccdc81 APN 7 89,526,788 (GRCm39) splice site probably benign
IGL03195:Ccdc81 APN 7 89,545,916 (GRCm39) missense probably benign 0.05
IGL03397:Ccdc81 APN 7 89,546,036 (GRCm39) missense probably damaging 1.00
I0000:Ccdc81 UTSW 7 89,547,259 (GRCm39) missense probably damaging 1.00
R0089:Ccdc81 UTSW 7 89,542,324 (GRCm39) missense possibly damaging 0.87
R0409:Ccdc81 UTSW 7 89,535,423 (GRCm39) missense probably benign 0.01
R0449:Ccdc81 UTSW 7 89,539,679 (GRCm39) missense probably damaging 1.00
R0490:Ccdc81 UTSW 7 89,536,970 (GRCm39) missense probably benign 0.28
R0511:Ccdc81 UTSW 7 89,542,504 (GRCm39) missense probably damaging 1.00
R0562:Ccdc81 UTSW 7 89,552,437 (GRCm39) missense probably benign 0.02
R0944:Ccdc81 UTSW 7 89,515,777 (GRCm39) missense probably damaging 0.99
R1006:Ccdc81 UTSW 7 89,515,769 (GRCm39) missense probably benign 0.03
R1334:Ccdc81 UTSW 7 89,515,769 (GRCm39) missense probably benign 0.03
R1526:Ccdc81 UTSW 7 89,525,081 (GRCm39) missense probably damaging 0.99
R1623:Ccdc81 UTSW 7 89,535,390 (GRCm39) missense probably benign 0.00
R1753:Ccdc81 UTSW 7 89,515,769 (GRCm39) missense probably benign 0.03
R1885:Ccdc81 UTSW 7 89,515,819 (GRCm39) missense possibly damaging 0.80
R1886:Ccdc81 UTSW 7 89,515,819 (GRCm39) missense possibly damaging 0.80
R1887:Ccdc81 UTSW 7 89,515,819 (GRCm39) missense possibly damaging 0.80
R1889:Ccdc81 UTSW 7 89,531,502 (GRCm39) nonsense probably null
R1964:Ccdc81 UTSW 7 89,535,361 (GRCm39) missense probably benign
R1997:Ccdc81 UTSW 7 89,547,271 (GRCm39) missense probably damaging 1.00
R3725:Ccdc81 UTSW 7 89,515,838 (GRCm39) missense possibly damaging 0.95
R5494:Ccdc81 UTSW 7 89,526,781 (GRCm39) missense probably damaging 1.00
R5660:Ccdc81 UTSW 7 89,542,337 (GRCm39) missense probably benign
R6275:Ccdc81 UTSW 7 89,531,519 (GRCm39) missense possibly damaging 0.59
R6434:Ccdc81 UTSW 7 89,525,352 (GRCm39) missense probably damaging 1.00
R6711:Ccdc81 UTSW 7 89,537,006 (GRCm39) missense probably damaging 0.98
R7287:Ccdc81 UTSW 7 89,542,331 (GRCm39) missense probably damaging 0.98
R7582:Ccdc81 UTSW 7 89,525,353 (GRCm39) missense probably damaging 0.99
R7914:Ccdc81 UTSW 7 89,524,988 (GRCm39) missense possibly damaging 0.94
R7976:Ccdc81 UTSW 7 89,515,723 (GRCm39) nonsense probably null
R7977:Ccdc81 UTSW 7 89,525,319 (GRCm39) missense probably damaging 1.00
R7987:Ccdc81 UTSW 7 89,525,319 (GRCm39) missense probably damaging 1.00
R7991:Ccdc81 UTSW 7 89,539,609 (GRCm39) missense probably benign 0.01
R8002:Ccdc81 UTSW 7 89,525,343 (GRCm39) missense probably benign
R8309:Ccdc81 UTSW 7 89,526,786 (GRCm39) critical splice acceptor site probably null
R9031:Ccdc81 UTSW 7 89,542,358 (GRCm39) missense probably benign 0.03
RF018:Ccdc81 UTSW 7 89,515,906 (GRCm39) splice site probably null
X0061:Ccdc81 UTSW 7 89,526,697 (GRCm39) missense probably benign 0.00
Z1177:Ccdc81 UTSW 7 89,530,865 (GRCm39) missense probably damaging 0.99
Predicted Primers
Posted On 2015-12-15