Incidental Mutation 'R0490:Ccdc81'
ID 43442
Institutional Source Beutler Lab
Gene Symbol Ccdc81
Ensembl Gene ENSMUSG00000039391
Gene Name coiled-coil domain containing 81
Synonyms 4921513D09Rik
MMRRC Submission 038688-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.137) question?
Stock # R0490 (G1)
Quality Score 192
Status Validated
Chromosome 7
Chromosomal Location 89515356-89552837 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 89536970 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 226 (V226D)
Ref Sequence ENSEMBL: ENSMUSP00000044087 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041195] [ENSMUST00000131966]
AlphaFold Q9D5W4
Predicted Effect probably benign
Transcript: ENSMUST00000041195
AA Change: V226D

PolyPhen 2 Score 0.277 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000044087
Gene: ENSMUSG00000039391
AA Change: V226D

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 96.2%
  • 20x: 92.2%
Validation Efficiency 100% (60/60)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,103,338 (GRCm39) Y640N probably damaging Het
Adamts9 T A 6: 92,849,847 (GRCm39) Q402L probably benign Het
Als2cl A G 9: 110,724,414 (GRCm39) T750A probably benign Het
Ank1 C A 8: 23,597,890 (GRCm39) probably benign Het
Ap4e1 T A 2: 126,888,106 (GRCm39) N404K probably damaging Het
Atf7ip G T 6: 136,586,190 (GRCm39) probably benign Het
Bean1 A T 8: 104,941,660 (GRCm39) T169S possibly damaging Het
Bod1l G T 5: 41,979,235 (GRCm39) T693N probably damaging Het
Cd48 A G 1: 171,532,445 (GRCm39) *241W probably null Het
Cdon C A 9: 35,363,978 (GRCm39) S32Y probably damaging Het
Cers3 A G 7: 66,423,438 (GRCm39) S128G possibly damaging Het
Cntn6 T C 6: 104,810,879 (GRCm39) V641A possibly damaging Het
Col6a4 G A 9: 105,890,969 (GRCm39) T1775I probably damaging Het
Dnah8 T C 17: 30,919,393 (GRCm39) V1122A probably benign Het
Dst G T 1: 34,346,449 (GRCm39) G5102* probably null Het
Dvl3 C T 16: 20,346,173 (GRCm39) probably benign Het
Epha5 G T 5: 84,255,833 (GRCm39) probably benign Het
Fscb G A 12: 64,519,661 (GRCm39) P602S unknown Het
Fxn A G 19: 24,254,543 (GRCm39) probably null Het
Gipc2 A G 3: 151,808,291 (GRCm39) L254P possibly damaging Het
Gm973 C T 1: 59,597,393 (GRCm39) probably benign Het
Gng8 A G 7: 16,628,908 (GRCm39) T14A probably benign Het
Gsdmc3 C T 15: 63,732,099 (GRCm39) G309D possibly damaging Het
Gsr T A 8: 34,161,540 (GRCm39) probably benign Het
Gtdc1 A T 2: 44,525,052 (GRCm39) D152E probably benign Het
Herc1 A G 9: 66,392,281 (GRCm39) D4063G probably damaging Het
Hsdl2 C T 4: 59,612,814 (GRCm39) probably benign Het
Iqgap3 T C 3: 88,021,363 (GRCm39) probably benign Het
Kcnj10 A G 1: 172,197,019 (GRCm39) T178A probably damaging Het
Lama5 T A 2: 179,821,962 (GRCm39) I2958F possibly damaging Het
Lnx1 T A 5: 74,781,008 (GRCm39) probably null Het
Lpl A G 8: 69,349,343 (GRCm39) R290G probably damaging Het
Mamdc4 C T 2: 25,453,593 (GRCm39) R1196K probably benign Het
Mogat2 T C 7: 98,872,351 (GRCm39) S167G probably benign Het
Nek8 T A 11: 78,058,555 (GRCm39) I582F probably benign Het
Notch4 T A 17: 34,801,864 (GRCm39) D1237E probably damaging Het
Or2y8 A G 11: 52,035,493 (GRCm39) I288T probably damaging Het
Or5b104 A G 19: 13,072,176 (GRCm39) Y279H probably damaging Het
Or5b119 G A 19: 13,456,857 (GRCm39) A235V probably damaging Het
Or9i14 A G 19: 13,792,219 (GRCm39) L245P probably damaging Het
Pcdhb8 T C 18: 37,489,833 (GRCm39) S504P probably damaging Het
Pigs T C 11: 78,226,451 (GRCm39) S223P probably damaging Het
Prkch A G 12: 73,806,450 (GRCm39) I566V probably damaging Het
Ptpn22 T C 3: 103,793,495 (GRCm39) S549P probably damaging Het
Rita1 A T 5: 120,749,630 (GRCm39) F28I probably damaging Het
Rpgrip1l A T 8: 92,026,473 (GRCm39) probably benign Het
Slc1a1 A G 19: 28,874,931 (GRCm39) K170E probably benign Het
Spag17 C T 3: 99,889,727 (GRCm39) R199W probably damaging Het
Tas2r116 T C 6: 132,832,984 (GRCm39) V195A probably benign Het
Trav7d-3 C A 14: 52,982,007 (GRCm39) probably benign Het
Trim15 T C 17: 37,177,247 (GRCm39) K138E probably benign Het
Ttn T A 2: 76,539,174 (GRCm39) H34604L probably benign Het
Ttn C T 2: 76,577,876 (GRCm39) R16012K probably damaging Het
Zfp948 T C 17: 21,808,296 (GRCm39) V496A probably benign Het
Zfy2 A T Y: 2,106,620 (GRCm39) S671R possibly damaging Het
Zswim1 T A 2: 164,667,203 (GRCm39) Y152N possibly damaging 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
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
R0801:Ccdc81 UTSW 7 89,536,866 (GRCm39) splice site probably null
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 PCR Primer
(F):5'- GCACGGCATATGGAgaatcactgaa -3'
(R):5'- GCCCTGAACTCACCCCTGAGAC -3'

Sequencing Primer
(F):5'- acccaaccataaaccagaataaac -3'
(R):5'- ATATGGACTTGGCAGACTCTCAG -3'
Posted On 2013-05-23