Incidental Mutation 'R8843:Ccdc80'
ID 690350
Institutional Source Beutler Lab
Gene Symbol Ccdc80
Ensembl Gene ENSMUSG00000022665
Gene Name coiled-coil domain containing 80
Synonyms DRO1, Urb, Ssg1, 2610001E17Rik
MMRRC Submission 068670-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.071) question?
Stock # R8843 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 44913770-44948287 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to A at 44947470 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000097097 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061050] [ENSMUST00000099498]
AlphaFold Q8R2G6
Predicted Effect probably benign
Transcript: ENSMUST00000061050
SMART Domains Protein: ENSMUSP00000058752
Gene: ENSMUSG00000022665

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF4174 141 270 2.2e-31 PFAM
low complexity region 294 308 N/A INTRINSIC
low complexity region 335 380 N/A INTRINSIC
low complexity region 482 497 N/A INTRINSIC
coiled coil region 554 587 N/A INTRINSIC
Pfam:DUF4174 614 748 3.1e-36 PFAM
Pfam:DUF4174 770 901 2.1e-36 PFAM
low complexity region 917 940 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000099498
SMART Domains Protein: ENSMUSP00000097097
Gene: ENSMUSG00000022665

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:DUF4174 140 271 8.9e-34 PFAM
low complexity region 294 308 N/A INTRINSIC
low complexity region 335 380 N/A INTRINSIC
low complexity region 482 497 N/A INTRINSIC
coiled coil region 554 587 N/A INTRINSIC
Pfam:DUF4174 613 749 1.4e-21 PFAM
Pfam:DUF4174 769 902 3.5e-39 PFAM
low complexity region 917 940 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (73/73)
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele exhibit increased adiposity, hyperglycemia, glucose intolerance, impaired insulin secretion, and altered energy intake and expenditure when fed a high-fat diet. Mice homozygous for a different null allele develop thyroid adenomas and ovarian carcinomas. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AB124611 C G 9: 21,440,331 (GRCm39) Q106E probably benign Het
Abi2 A G 1: 60,492,888 (GRCm39) M387V probably null Het
Adra2c A T 5: 35,437,707 (GRCm39) N160Y probably damaging Het
Ager G A 17: 34,819,716 (GRCm39) R383H probably benign Het
Arhgef28 C T 13: 98,130,557 (GRCm39) R427H probably benign Het
Atl1 T A 12: 69,972,922 (GRCm39) S81T probably damaging Het
Cdh10 T A 15: 19,013,487 (GRCm39) F696I possibly damaging Het
Cdk2ap2 T C 19: 4,147,429 (GRCm39) S2P unknown Het
Cela1 G A 15: 100,580,821 (GRCm39) T145I probably benign Het
Celsr2 A T 3: 108,303,443 (GRCm39) probably benign Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Col22a1 A G 15: 71,878,503 (GRCm39) I218T probably damaging Het
Copb1 T C 7: 113,820,935 (GRCm39) I785V possibly damaging Het
Dnajc16 A T 4: 141,492,002 (GRCm39) V607E possibly damaging Het
Dnali1 A T 4: 124,957,414 (GRCm39) L110Q probably damaging Het
Epn1 A G 7: 5,096,375 (GRCm39) E223G probably benign Het
Erbb3 A G 10: 128,414,325 (GRCm39) L473P possibly damaging Het
Fhip1a A G 3: 85,568,318 (GRCm39) I1067T possibly damaging Het
Gadl1 T A 9: 115,835,569 (GRCm39) D332E probably benign Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Heg1 A G 16: 33,570,863 (GRCm39) S1188G probably null Het
Hipk3 G A 2: 104,268,242 (GRCm39) A575V probably benign Het
Htt T A 5: 35,046,809 (GRCm39) I2375N possibly damaging Het
Klhl24 A T 16: 19,938,980 (GRCm39) K512* probably null Het
Krtdap A T 7: 30,488,952 (GRCm39) Y40F probably damaging Het
Lhx1 A T 11: 84,410,455 (GRCm39) S381T probably benign Het
Lnpep G A 17: 17,773,203 (GRCm39) P655L probably damaging Het
Map6d1 A G 16: 20,055,386 (GRCm39) V150A probably benign Het
Marchf10 A G 11: 105,292,802 (GRCm39) S202P possibly damaging Het
Med1 A C 11: 98,080,102 (GRCm39) L13R possibly damaging Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Myh7 T G 14: 55,212,752 (GRCm39) D1431A probably damaging Het
Myo3b G T 2: 70,088,325 (GRCm39) G863W probably damaging Het
Nat8f1 G T 6: 85,887,907 (GRCm39) Q18K probably benign Het
Ncaph A G 2: 126,950,529 (GRCm39) V576A probably benign Het
Nfkbia T G 12: 55,539,196 (GRCm39) D39A possibly damaging Het
Nrxn2 G T 19: 6,555,057 (GRCm39) G1179C probably damaging Het
Or12k8 A C 2: 36,975,307 (GRCm39) V151G probably damaging Het
P4ha1 A G 10: 59,205,455 (GRCm39) D495G probably damaging Het
Phf20 C T 2: 156,144,843 (GRCm39) A817V probably benign Het
Phlpp2 A T 8: 110,652,431 (GRCm39) I592F probably benign Het
Polq A G 16: 36,832,280 (GRCm39) S7G unknown Het
Ppfia3 G T 7: 44,997,941 (GRCm39) Q729K probably benign Het
Prmt8 A C 6: 127,706,462 (GRCm39) F110V probably damaging Het
Psca A T 15: 74,587,868 (GRCm39) probably null Het
Pus7 G T 5: 23,980,754 (GRCm39) D165E probably benign Het
Raver2 A G 4: 100,994,942 (GRCm39) E555G probably damaging Het
Rb1cc1 G A 1: 6,315,395 (GRCm39) V457M probably damaging Het
Rbp3 A G 14: 33,676,522 (GRCm39) R157G probably benign Het
Rin3 T G 12: 102,335,857 (GRCm39) H589Q probably benign Het
Scart2 A C 7: 139,828,913 (GRCm39) T191P possibly damaging Het
Sgk2 T A 2: 162,854,890 (GRCm39) S334T probably damaging Het
Sh2d4b T C 14: 40,614,832 (GRCm39) M31V probably benign Het
Slc23a3 G A 1: 75,106,271 (GRCm39) T316I probably damaging Het
Slc5a4b C A 10: 75,910,925 (GRCm39) G304C probably damaging Het
Slc7a14 A G 3: 31,311,759 (GRCm39) V87A probably damaging Het
Slitrk3 A T 3: 72,956,164 (GRCm39) N869K probably benign Het
St8sia6 T C 2: 13,661,896 (GRCm39) R312G possibly damaging Het
Strip2 A T 6: 29,923,968 (GRCm39) E94V probably benign Het
Sycp2 T C 2: 177,990,052 (GRCm39) D1398G probably damaging Het
Syne1 C A 10: 5,143,040 (GRCm39) V114F possibly damaging Het
Syne1 T C 10: 5,280,204 (GRCm39) K1630E probably benign Het
Sytl2 A G 7: 90,025,334 (GRCm39) N441D probably benign Het
Thsd7a A G 6: 12,501,136 (GRCm39) C424R Het
Tln2 T C 9: 67,302,827 (GRCm39) D48G probably damaging Het
Treml1 A G 17: 48,673,852 (GRCm39) T288A probably damaging Het
Ttn T C 2: 76,596,113 (GRCm39) I20267V probably benign Het
Ttn A T 2: 76,679,259 (GRCm39) V10821D unknown Het
Vmn2r111 A C 17: 22,767,011 (GRCm39) S829A probably benign Het
Xcl1 T A 1: 164,763,079 (GRCm39) probably benign Het
Zdhhc23 A T 16: 43,794,227 (GRCm39) V149E probably damaging Het
Zfp273 A T 13: 67,970,387 (GRCm39) I12F possibly damaging Het
Zfp874a A T 13: 67,590,764 (GRCm39) C307S probably damaging Het
Other mutations in Ccdc80
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00977:Ccdc80 APN 16 44,916,627 (GRCm39) missense probably benign 0.07
IGL01781:Ccdc80 APN 16 44,946,493 (GRCm39) missense probably damaging 1.00
IGL01945:Ccdc80 APN 16 44,938,608 (GRCm39) missense probably damaging 0.99
IGL02163:Ccdc80 APN 16 44,916,477 (GRCm39) missense probably benign
IGL02223:Ccdc80 APN 16 44,915,966 (GRCm39) missense probably damaging 1.00
IGL02573:Ccdc80 APN 16 44,915,952 (GRCm39) missense probably damaging 1.00
IGL02675:Ccdc80 APN 16 44,936,695 (GRCm39) missense probably damaging 1.00
IGL02689:Ccdc80 APN 16 44,916,772 (GRCm39) nonsense probably null
R0219:Ccdc80 UTSW 16 44,916,846 (GRCm39) missense probably damaging 1.00
R0383:Ccdc80 UTSW 16 44,915,732 (GRCm39) missense probably damaging 1.00
R1537:Ccdc80 UTSW 16 44,916,299 (GRCm39) missense probably benign 0.21
R1726:Ccdc80 UTSW 16 44,916,368 (GRCm39) missense probably benign 0.04
R1885:Ccdc80 UTSW 16 44,917,083 (GRCm39) missense probably benign 0.09
R2021:Ccdc80 UTSW 16 44,943,275 (GRCm39) missense probably damaging 1.00
R2140:Ccdc80 UTSW 16 44,947,809 (GRCm39) missense probably damaging 1.00
R2186:Ccdc80 UTSW 16 44,938,468 (GRCm39) missense probably damaging 1.00
R3896:Ccdc80 UTSW 16 44,916,984 (GRCm39) missense probably benign 0.11
R3941:Ccdc80 UTSW 16 44,916,455 (GRCm39) missense probably benign
R3971:Ccdc80 UTSW 16 44,916,183 (GRCm39) missense probably benign 0.22
R4082:Ccdc80 UTSW 16 44,943,290 (GRCm39) missense probably damaging 1.00
R4322:Ccdc80 UTSW 16 44,915,951 (GRCm39) missense probably damaging 1.00
R4578:Ccdc80 UTSW 16 44,915,849 (GRCm39) missense probably damaging 1.00
R4604:Ccdc80 UTSW 16 44,915,928 (GRCm39) missense probably damaging 1.00
R4868:Ccdc80 UTSW 16 44,924,776 (GRCm39) missense probably damaging 1.00
R4896:Ccdc80 UTSW 16 44,916,261 (GRCm39) missense probably benign
R4921:Ccdc80 UTSW 16 44,938,530 (GRCm39) missense probably damaging 1.00
R4979:Ccdc80 UTSW 16 44,936,650 (GRCm39) missense possibly damaging 0.90
R5452:Ccdc80 UTSW 16 44,938,528 (GRCm39) missense probably damaging 1.00
R5454:Ccdc80 UTSW 16 44,947,588 (GRCm39) nonsense probably null
R5594:Ccdc80 UTSW 16 44,936,626 (GRCm39) missense probably benign 0.00
R5661:Ccdc80 UTSW 16 44,947,808 (GRCm39) missense probably damaging 1.00
R5701:Ccdc80 UTSW 16 44,936,741 (GRCm39) missense possibly damaging 0.51
R6106:Ccdc80 UTSW 16 44,917,073 (GRCm39) missense probably benign 0.00
R6393:Ccdc80 UTSW 16 44,916,828 (GRCm39) missense possibly damaging 0.88
R6633:Ccdc80 UTSW 16 44,915,271 (GRCm39) missense possibly damaging 0.95
R6943:Ccdc80 UTSW 16 44,915,445 (GRCm39) missense probably benign 0.00
R7021:Ccdc80 UTSW 16 44,924,804 (GRCm39) missense probably damaging 1.00
R7030:Ccdc80 UTSW 16 44,943,252 (GRCm39) missense possibly damaging 0.60
R7208:Ccdc80 UTSW 16 44,917,073 (GRCm39) missense probably benign 0.12
R7486:Ccdc80 UTSW 16 44,946,542 (GRCm39) missense probably damaging 1.00
R7490:Ccdc80 UTSW 16 44,916,763 (GRCm39) missense probably damaging 1.00
R7539:Ccdc80 UTSW 16 44,915,445 (GRCm39) missense probably benign 0.01
R7562:Ccdc80 UTSW 16 44,943,266 (GRCm39) missense probably damaging 1.00
R7723:Ccdc80 UTSW 16 44,946,798 (GRCm39) splice site probably null
R7739:Ccdc80 UTSW 16 44,916,186 (GRCm39) missense probably benign 0.06
R7740:Ccdc80 UTSW 16 44,924,888 (GRCm39) missense possibly damaging 0.67
R8034:Ccdc80 UTSW 16 44,943,238 (GRCm39) missense probably damaging 0.96
R8150:Ccdc80 UTSW 16 44,947,792 (GRCm39) missense probably damaging 1.00
R8420:Ccdc80 UTSW 16 44,915,612 (GRCm39) missense possibly damaging 0.70
R8983:Ccdc80 UTSW 16 44,924,780 (GRCm39) missense possibly damaging 0.92
R9263:Ccdc80 UTSW 16 44,915,949 (GRCm39) missense probably damaging 0.99
R9570:Ccdc80 UTSW 16 44,915,449 (GRCm39) missense probably benign 0.13
R9584:Ccdc80 UTSW 16 44,915,675 (GRCm39) missense probably damaging 0.99
X0012:Ccdc80 UTSW 16 44,916,788 (GRCm39) missense probably benign 0.26
Z1176:Ccdc80 UTSW 16 44,936,707 (GRCm39) missense probably damaging 1.00
Z1176:Ccdc80 UTSW 16 44,916,570 (GRCm39) missense probably benign 0.43
Z1176:Ccdc80 UTSW 16 44,916,149 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- CCCTGACAGATTGCTACAGATG -3'
(R):5'- TTGCCATCTTTTCCAACTAGAAGC -3'

Sequencing Primer
(F):5'- CTGACAGATTGCTACAGATGTTGATG -3'
(R):5'- CATGGAGAAGTACTCTGGGCTCAC -3'
Posted On 2021-12-16