Incidental Mutation 'R7205:Ccdc180'
ID 560498
Institutional Source Beutler Lab
Gene Symbol Ccdc180
Ensembl Gene ENSMUSG00000035539
Gene Name coiled-coil domain containing 180
Synonyms LOC381522, E230008N13Rik
MMRRC Submission 045283-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7205 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 45890303-45950774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45914588 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 701 (D701G)
Ref Sequence ENSEMBL: ENSMUSP00000136714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178561]
AlphaFold J3QNE4
Predicted Effect
SMART Domains Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: D693G

DomainStartEndE-ValueType
low complexity region 25 42 N/A INTRINSIC
coiled coil region 90 117 N/A INTRINSIC
Pfam:DUF4455 141 609 2e-189 PFAM
low complexity region 628 642 N/A INTRINSIC
low complexity region 658 675 N/A INTRINSIC
coiled coil region 710 780 N/A INTRINSIC
coiled coil region 945 979 N/A INTRINSIC
low complexity region 1100 1123 N/A INTRINSIC
Pfam:DUF4456 1169 1372 9.5e-77 PFAM
Predicted Effect
SMART Domains Protein: ENSMUSP00000122332
Gene: ENSMUSG00000035539
AA Change: D73G

DomainStartEndE-ValueType
low complexity region 8 22 N/A INTRINSIC
low complexity region 38 55 N/A INTRINSIC
coiled coil region 90 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000178561
AA Change: D701G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: D701G

DomainStartEndE-ValueType
low complexity region 32 49 N/A INTRINSIC
coiled coil region 98 125 N/A INTRINSIC
Pfam:DUF4455 148 616 7.3e-189 PFAM
low complexity region 635 649 N/A INTRINSIC
low complexity region 665 682 N/A INTRINSIC
coiled coil region 718 788 N/A INTRINSIC
coiled coil region 1121 1155 N/A INTRINSIC
low complexity region 1275 1298 N/A INTRINSIC
Pfam:DUF4456 1344 1547 2.2e-76 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (99/102)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a coiled-coil domain. Alternative splicing results in multiple transcript variants encoding different isoforms. A single nucleotide polymorphism (SNP) in this gene has been associated with increased susceptibility to Behcet's Disease (PMID: 19442274). [provided by RefSeq, Dec 2016]
Allele List at MGI
Other mutations in this stock
Total: 101 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,993,587 (GRCm39) K1269M possibly damaging Het
Adgrl2 A T 3: 148,564,585 (GRCm39) Y332N probably damaging Het
Adgrv1 C T 13: 81,627,777 (GRCm39) V3695I probably benign Het
Aldh1l1 A T 6: 90,575,257 (GRCm39) Y848F probably damaging Het
Ambra1 T C 2: 91,598,103 (GRCm39) V88A possibly damaging Het
Ankrd12 C T 17: 66,292,160 (GRCm39) R1091Q probably damaging Het
Apob T G 12: 8,055,087 (GRCm39) V1362G probably damaging Het
Arhgap17 A G 7: 122,905,661 (GRCm39) L328P probably damaging Het
Arhgap27 A C 11: 103,235,367 (GRCm39) V9G probably benign Het
Arhgap33 A T 7: 30,232,434 (GRCm39) D34E probably damaging Het
Ash1l A G 3: 88,873,259 (GRCm39) D14G probably benign Het
Atf6b T C 17: 34,872,703 (GRCm39) Y575H probably damaging Het
Bcl2l2 T G 14: 55,122,058 (GRCm39) S74A probably benign Het
Begain T C 12: 109,004,794 (GRCm39) T73A possibly damaging Het
Bicdl1 C T 5: 115,808,340 (GRCm39) R264Q probably damaging Het
Cd200r4 G T 16: 44,653,529 (GRCm39) V146L probably damaging Het
Cd226 G A 18: 89,265,322 (GRCm39) C200Y probably damaging Het
Cdcp3 T C 7: 130,879,352 (GRCm39) probably null Het
Cdhr18 T C 14: 13,866,032 (GRCm38) T286A Het
Cdk12 A G 11: 98,115,451 (GRCm39) N864S unknown Het
Cfhr4 A T 1: 139,680,788 (GRCm39) Y243* probably null Het
Clcnkb A T 4: 141,135,946 (GRCm39) L413Q probably damaging Het
Cldn10 T C 14: 119,099,255 (GRCm39) V123A possibly damaging Het
Cnn1 T A 9: 22,017,078 (GRCm39) probably null Het
Cpa5 C A 6: 30,630,829 (GRCm39) Q364K probably benign Het
Cstdc5 T C 16: 36,187,809 (GRCm39) I19V probably benign Het
Ddx11 A G 17: 66,437,766 (GRCm39) E164G probably benign Het
Dnah12 G A 14: 26,500,869 (GRCm39) probably null Het
Drc7 T A 8: 95,804,549 (GRCm39) Y855N probably damaging Het
Fam20b C A 1: 156,529,968 (GRCm39) probably null Het
Fip1l1 T A 5: 74,748,736 (GRCm39) probably null Het
Flt4 A G 11: 49,525,125 (GRCm39) D657G probably null Het
Fmo3 T A 1: 162,781,857 (GRCm39) T499S possibly damaging Het
Fyco1 C T 9: 123,651,491 (GRCm39) G1190S probably benign Het
Galnt17 C A 5: 131,335,590 (GRCm39) probably benign Het
Ggcx T C 6: 72,404,987 (GRCm39) I465T probably damaging Het
Gm7361 T A 5: 26,466,116 (GRCm39) N159K probably damaging Het
Golgb1 A G 16: 36,695,663 (GRCm39) N54S unknown Het
Grin2c G A 11: 115,141,876 (GRCm39) P848S probably damaging Het
Grina T C 15: 76,133,287 (GRCm39) V285A probably damaging Het
Gtpbp6 A G 5: 110,252,478 (GRCm39) L381P probably damaging Het
Herc2 G T 7: 55,832,388 (GRCm39) G3028V probably damaging Het
Ibsp A T 5: 104,458,297 (GRCm39) Y278F probably damaging Het
Ints4 T A 7: 97,184,433 (GRCm39) L846* probably null Het
Kif17 A G 4: 138,021,077 (GRCm39) K849E probably benign Het
Krt77 G A 15: 101,777,806 (GRCm39) P83L probably benign Het
Ky T G 9: 102,419,491 (GRCm39) D499E probably damaging Het
Lrp3 A T 7: 34,902,051 (GRCm39) M610K probably damaging Het
Lrrfip1 T A 1: 91,019,338 (GRCm39) D156E probably benign Het
Map6 C A 7: 98,918,257 (GRCm39) H343Q probably benign Het
Micu2 G T 14: 58,191,606 (GRCm39) D148E probably benign Het
Mks1 T A 11: 87,747,428 (GRCm39) S153T probably benign Het
Msantd5f3 A G 4: 73,573,157 (GRCm39) Y132C probably damaging Het
Muc6 AGGCGCAGAAACCCTGGC AGGC 7: 141,214,363 (GRCm39) probably null Het
Myh9 T C 15: 77,667,672 (GRCm39) K587R probably benign Het
Neb T C 2: 52,086,368 (GRCm39) Y5478C probably damaging Het
Nelfe G A 17: 35,069,912 (GRCm39) probably null Het
Nps T A 7: 134,870,510 (GRCm39) L11I probably damaging Het
Nsd1 A T 13: 55,394,283 (GRCm39) D731V probably damaging Het
Nup50 A G 15: 84,817,859 (GRCm39) T93A probably benign Het
Nup98 A T 7: 101,844,248 (GRCm39) F29Y unknown Het
Oprd1 A G 4: 131,841,112 (GRCm39) I282T probably damaging Het
Or4c103 T C 2: 88,513,767 (GRCm39) H103R possibly damaging Het
Or5p50 T C 7: 107,421,782 (GRCm39) N298S probably benign Het
Or6b3 A T 1: 92,439,573 (GRCm39) M59K probably benign Het
Or6d12 A G 6: 116,492,936 (GRCm39) Y66C probably damaging Het
Osbp2 T C 11: 3,662,134 (GRCm39) I240V probably damaging Het
Otub2 C A 12: 103,359,163 (GRCm39) P84Q probably benign Het
Parp9 A T 16: 35,777,360 (GRCm39) I435F probably benign Het
Pcdh18 C T 3: 49,709,923 (GRCm39) R464H probably benign Het
Pcsk6 G T 7: 65,675,156 (GRCm39) probably null Het
Ptgs2 G A 1: 149,978,512 (GRCm39) R208Q probably benign Het
Rab11b G A 17: 33,968,841 (GRCm39) R51C probably damaging Het
Rad1 A G 15: 10,493,343 (GRCm39) I257V probably benign Het
Rbms3 C T 9: 116,415,085 (GRCm39) probably null Het
Rxfp2 A T 5: 149,983,364 (GRCm39) I300L probably benign Het
Rxfp2 C A 5: 149,983,368 (GRCm39) T301K probably benign Het
Sars2 G T 7: 28,443,733 (GRCm39) A112S probably benign Het
Scn10a T C 9: 119,442,616 (GRCm39) D1543G probably damaging Het
Serpinb1b A G 13: 33,271,406 (GRCm39) H59R probably benign Het
Sgsm2 T A 11: 74,745,319 (GRCm39) D661V possibly damaging Het
Smad6 C A 9: 63,927,688 (GRCm39) V207L probably damaging Het
Son TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCAGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG TCCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG 16: 91,457,183 (GRCm39) probably benign Het
Spata31h1 A T 10: 82,125,161 (GRCm39) D2616E probably benign Het
Tenm2 C T 11: 35,939,956 (GRCm39) R1390Q probably damaging Het
Tmem132a T A 19: 10,844,295 (GRCm39) Q101L probably damaging Het
Tmem151a A G 19: 5,132,801 (GRCm39) V135A probably damaging Het
Trappc10 T C 10: 78,046,262 (GRCm39) K443E probably damaging Het
Trrap A T 5: 144,779,517 (GRCm39) N3161I possibly damaging Het
Tspan32 G T 7: 142,558,863 (GRCm39) R6L possibly damaging Het
Tut7 C G 13: 59,936,364 (GRCm39) D1246H probably damaging Het
Ugt2a2 T C 5: 87,608,468 (GRCm39) D457G possibly damaging Het
Ulk2 A T 11: 61,725,657 (GRCm39) S140T possibly damaging Het
Upf1 C T 8: 70,792,695 (GRCm39) A338T possibly damaging Het
Usp43 C T 11: 67,774,110 (GRCm39) R460Q probably null Het
Uxs1 A G 1: 43,856,118 (GRCm39) probably benign Het
Vmn1r59 A G 7: 5,457,725 (GRCm39) C12R probably damaging Het
Wdr64 A G 1: 175,617,499 (GRCm39) D693G probably benign Het
Wnk1 A T 6: 119,920,839 (GRCm39) probably null Het
Wnt2 G T 6: 18,028,046 (GRCm39) R63S probably benign Het
Zfp418 A T 7: 7,184,562 (GRCm39) Q175L probably benign Het
Other mutations in Ccdc180
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01369:Ccdc180 APN 4 45,900,256 (GRCm39) missense probably benign
IGL01713:Ccdc180 APN 4 45,921,025 (GRCm39) critical splice donor site probably null
IGL01915:Ccdc180 APN 4 45,904,544 (GRCm39) missense probably damaging 0.98
IGL01935:Ccdc180 APN 4 45,906,889 (GRCm39) missense possibly damaging 0.71
IGL02539:Ccdc180 APN 4 45,921,005 (GRCm39) missense probably damaging 1.00
IGL02982:Ccdc180 APN 4 45,903,840 (GRCm39) splice site probably benign
IGL03071:Ccdc180 APN 4 45,903,840 (GRCm39) splice site probably benign
IGL03146:Ccdc180 APN 4 45,903,840 (GRCm39) splice site probably benign
PIT4687001:Ccdc180 UTSW 4 45,949,526 (GRCm39) missense probably damaging 1.00
R0049:Ccdc180 UTSW 4 45,930,119 (GRCm39) critical splice acceptor site probably null
R0049:Ccdc180 UTSW 4 45,930,119 (GRCm39) critical splice acceptor site probably null
R0054:Ccdc180 UTSW 4 45,890,900 (GRCm39) missense probably benign 0.01
R0054:Ccdc180 UTSW 4 45,890,900 (GRCm39) missense probably benign 0.01
R0080:Ccdc180 UTSW 4 45,896,205 (GRCm39) missense probably null 0.00
R0082:Ccdc180 UTSW 4 45,896,205 (GRCm39) missense probably null 0.00
R0126:Ccdc180 UTSW 4 45,912,866 (GRCm39) critical splice donor site probably null
R0193:Ccdc180 UTSW 4 45,914,803 (GRCm39) missense probably benign 0.01
R0276:Ccdc180 UTSW 4 45,923,534 (GRCm39) missense probably damaging 1.00
R0362:Ccdc180 UTSW 4 45,923,551 (GRCm39) missense probably damaging 1.00
R0380:Ccdc180 UTSW 4 45,930,197 (GRCm39) critical splice donor site probably null
R0468:Ccdc180 UTSW 4 45,923,271 (GRCm39) missense possibly damaging 0.87
R0539:Ccdc180 UTSW 4 45,922,010 (GRCm39) missense probably damaging 0.97
R0543:Ccdc180 UTSW 4 45,900,041 (GRCm39) nonsense probably null
R0546:Ccdc180 UTSW 4 45,904,597 (GRCm39) missense possibly damaging 0.71
R0612:Ccdc180 UTSW 4 45,927,969 (GRCm39) missense probably damaging 0.98
R0792:Ccdc180 UTSW 4 45,927,975 (GRCm39) missense possibly damaging 0.92
R1056:Ccdc180 UTSW 4 45,916,375 (GRCm39) missense probably benign 0.01
R1099:Ccdc180 UTSW 4 45,914,225 (GRCm39) missense probably benign 0.03
R1136:Ccdc180 UTSW 4 45,914,589 (GRCm39) missense probably benign 0.00
R1263:Ccdc180 UTSW 4 45,903,887 (GRCm39) missense possibly damaging 0.85
R1331:Ccdc180 UTSW 4 45,909,359 (GRCm39) missense possibly damaging 0.51
R1522:Ccdc180 UTSW 4 45,927,975 (GRCm39) missense possibly damaging 0.92
R1819:Ccdc180 UTSW 4 45,926,195 (GRCm39) missense possibly damaging 0.84
R2022:Ccdc180 UTSW 4 45,944,418 (GRCm39) missense probably benign 0.18
R2056:Ccdc180 UTSW 4 45,932,477 (GRCm39) missense probably benign 0.03
R2219:Ccdc180 UTSW 4 45,944,949 (GRCm39) missense probably damaging 1.00
R2228:Ccdc180 UTSW 4 45,948,856 (GRCm39) critical splice donor site probably null
R2229:Ccdc180 UTSW 4 45,948,856 (GRCm39) critical splice donor site probably null
R2255:Ccdc180 UTSW 4 45,921,996 (GRCm39) missense probably damaging 1.00
R2427:Ccdc180 UTSW 4 45,929,545 (GRCm39) missense probably benign 0.03
R3001:Ccdc180 UTSW 4 45,899,988 (GRCm39) missense probably benign
R3002:Ccdc180 UTSW 4 45,899,988 (GRCm39) missense probably benign
R3003:Ccdc180 UTSW 4 45,899,988 (GRCm39) missense probably benign
R3110:Ccdc180 UTSW 4 45,900,470 (GRCm39) missense possibly damaging 0.86
R3111:Ccdc180 UTSW 4 45,900,470 (GRCm39) missense possibly damaging 0.86
R3112:Ccdc180 UTSW 4 45,900,470 (GRCm39) missense possibly damaging 0.86
R3898:Ccdc180 UTSW 4 45,912,799 (GRCm39) missense possibly damaging 0.71
R4022:Ccdc180 UTSW 4 45,904,560 (GRCm39) nonsense probably null
R4084:Ccdc180 UTSW 4 45,950,632 (GRCm39) missense probably benign 0.19
R4377:Ccdc180 UTSW 4 45,941,877 (GRCm39) missense probably damaging 1.00
R4595:Ccdc180 UTSW 4 45,945,023 (GRCm39) missense probably damaging 0.98
R4637:Ccdc180 UTSW 4 45,914,443 (GRCm39) missense probably benign
R4811:Ccdc180 UTSW 4 45,928,020 (GRCm39) missense probably damaging 1.00
R4825:Ccdc180 UTSW 4 45,912,794 (GRCm39) missense possibly damaging 0.93
R4858:Ccdc180 UTSW 4 45,923,244 (GRCm39) missense probably damaging 1.00
R4888:Ccdc180 UTSW 4 45,909,308 (GRCm39) missense probably damaging 0.98
R4940:Ccdc180 UTSW 4 45,917,508 (GRCm39) missense probably damaging 1.00
R4940:Ccdc180 UTSW 4 45,917,453 (GRCm39) missense probably damaging 0.96
R5042:Ccdc180 UTSW 4 45,916,255 (GRCm39) missense probably damaging 0.98
R5119:Ccdc180 UTSW 4 45,914,603 (GRCm39) missense possibly damaging 0.72
R5177:Ccdc180 UTSW 4 45,917,508 (GRCm39) missense probably damaging 1.00
R5311:Ccdc180 UTSW 4 45,917,556 (GRCm39) missense probably damaging 1.00
R5333:Ccdc180 UTSW 4 45,890,935 (GRCm39) missense possibly damaging 0.53
R5448:Ccdc180 UTSW 4 45,920,913 (GRCm39) missense probably damaging 1.00
R5510:Ccdc180 UTSW 4 45,928,046 (GRCm39) missense probably damaging 0.96
R6018:Ccdc180 UTSW 4 45,926,235 (GRCm39) missense probably damaging 1.00
R6108:Ccdc180 UTSW 4 45,911,389 (GRCm39) missense possibly damaging 0.71
R6283:Ccdc180 UTSW 4 45,902,486 (GRCm39) missense possibly damaging 0.85
R6483:Ccdc180 UTSW 4 45,921,950 (GRCm39) missense probably benign 0.32
R6618:Ccdc180 UTSW 4 45,950,708 (GRCm39) missense probably damaging 1.00
R7017:Ccdc180 UTSW 4 45,940,934 (GRCm39) missense possibly damaging 0.84
R7341:Ccdc180 UTSW 4 45,898,644 (GRCm39) missense possibly damaging 0.85
R7351:Ccdc180 UTSW 4 45,903,887 (GRCm39) missense possibly damaging 0.85
R7418:Ccdc180 UTSW 4 45,904,616 (GRCm39) missense probably damaging 0.98
R7492:Ccdc180 UTSW 4 45,930,009 (GRCm39) splice site probably null
R7573:Ccdc180 UTSW 4 45,922,015 (GRCm39) missense probably benign 0.33
R7639:Ccdc180 UTSW 4 45,928,043 (GRCm39) missense possibly damaging 0.93
R7792:Ccdc180 UTSW 4 45,890,389 (GRCm39) critical splice donor site probably null
R7806:Ccdc180 UTSW 4 45,912,801 (GRCm39) missense possibly damaging 0.85
R7812:Ccdc180 UTSW 4 45,906,952 (GRCm39) critical splice donor site probably null
R7840:Ccdc180 UTSW 4 45,900,461 (GRCm39) missense possibly damaging 0.71
R7842:Ccdc180 UTSW 4 45,909,428 (GRCm39) missense probably benign 0.00
R8712:Ccdc180 UTSW 4 45,920,842 (GRCm39) critical splice acceptor site probably null
R8818:Ccdc180 UTSW 4 45,900,484 (GRCm39) missense probably benign 0.02
R8961:Ccdc180 UTSW 4 45,929,573 (GRCm39) missense possibly damaging 0.74
R8983:Ccdc180 UTSW 4 45,909,359 (GRCm39) missense possibly damaging 0.93
R9035:Ccdc180 UTSW 4 45,906,922 (GRCm39) nonsense probably null
R9095:Ccdc180 UTSW 4 45,949,466 (GRCm39) nonsense probably null
R9240:Ccdc180 UTSW 4 45,917,566 (GRCm39) critical splice donor site probably null
R9293:Ccdc180 UTSW 4 45,944,461 (GRCm39) missense probably damaging 1.00
R9328:Ccdc180 UTSW 4 45,902,447 (GRCm39) missense possibly damaging 0.71
R9346:Ccdc180 UTSW 4 45,927,953 (GRCm39) missense probably benign 0.09
R9521:Ccdc180 UTSW 4 45,916,283 (GRCm39) missense probably null 0.50
R9653:Ccdc180 UTSW 4 45,923,495 (GRCm39) missense probably damaging 0.99
R9667:Ccdc180 UTSW 4 45,920,861 (GRCm39) nonsense probably null
X0017:Ccdc180 UTSW 4 45,909,350 (GRCm39) missense possibly damaging 0.86
Z1176:Ccdc180 UTSW 4 45,920,910 (GRCm39) missense probably damaging 1.00
Z1176:Ccdc180 UTSW 4 45,916,406 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGTCACTGCGTCCTTACAC -3'
(R):5'- GTCTCTTGATAGTACTCCAGCACG -3'

Sequencing Primer
(F):5'- ACTGCGTCCTTACACTTTAATATTGG -3'
(R):5'- GATAGTACTCCAGCACGTCTTC -3'
Posted On 2019-06-26