Incidental Mutation 'R5119:Ccdc180'
ID 392798
Institutional Source Beutler Lab
Gene Symbol Ccdc180
Ensembl Gene ENSMUSG00000035539
Gene Name coiled-coil domain containing 180
Synonyms LOC381522, E230008N13Rik
MMRRC Submission 042707-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5119 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 45890303-45950774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45914603 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 706 (E706G)
Ref Sequence ENSEMBL: ENSMUSP00000136714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178561]
AlphaFold J3QNE4
Predicted Effect unknown
Transcript: ENSMUST00000149903
AA Change: E698G
SMART Domains Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: E698G

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 unknown
Transcript: ENSMUST00000151024
AA Change: E78G
SMART Domains Protein: ENSMUSP00000122332
Gene: ENSMUSG00000035539
AA Change: E78G

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 possibly damaging
Transcript: ENSMUST00000178561
AA Change: E706G

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: E706G

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (127/127)
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: 120 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930470P17Rik C A 2: 170,421,505 (GRCm39) G125V unknown Het
Actr6 A T 10: 89,561,717 (GRCm39) L143Q probably damaging Het
Adamts18 A G 8: 114,425,642 (GRCm39) Y1207H probably benign Het
Adamts5 T A 16: 85,696,466 (GRCm39) R230S probably benign Het
Adat2 A T 10: 13,432,650 (GRCm39) N51Y probably damaging Het
Adgrv1 T C 13: 81,567,546 (GRCm39) Y5209C possibly damaging Het
Ahnak G T 19: 8,991,008 (GRCm39) M4097I probably benign Het
Akap13 A G 7: 75,337,000 (GRCm39) T820A probably damaging Het
Als2cl C T 9: 110,719,887 (GRCm39) R492C probably damaging Het
Aox3 G A 1: 58,227,683 (GRCm39) probably null Het
Arid4b G A 13: 14,338,866 (GRCm39) V446M probably benign Het
Armc2 A G 10: 41,798,144 (GRCm39) L794P probably damaging Het
Atp6v0a1 T A 11: 100,911,341 (GRCm39) M80K probably benign Het
Aup1 T C 6: 83,032,115 (GRCm39) V94A probably damaging Het
Bank1 A T 3: 135,940,443 (GRCm39) I180K possibly damaging Het
Becn1 A G 11: 101,182,221 (GRCm39) L116P probably damaging Het
Bsg A G 10: 79,546,057 (GRCm39) probably benign Het
Camk2a A T 18: 61,076,208 (GRCm39) probably benign Het
Cdk8 A T 5: 146,220,437 (GRCm39) probably null Het
Cpne4 A G 9: 104,778,720 (GRCm39) probably null Het
Cspp1 T A 1: 10,196,688 (GRCm39) N900K probably damaging Het
Cyp2c38 C A 19: 39,449,065 (GRCm39) G96V probably damaging Het
Dhx40 A G 11: 86,667,462 (GRCm39) I261T probably damaging Het
Dnah10 T C 5: 124,856,322 (GRCm39) F2038L probably damaging Het
Dnah7a A T 1: 53,737,851 (GRCm39) D27E probably benign Het
Dock10 A T 1: 80,545,711 (GRCm39) probably null Het
Dst A T 1: 34,235,050 (GRCm39) K3710* probably null Het
Dtl G T 1: 191,273,618 (GRCm39) A430D probably damaging Het
Ece2 T C 16: 20,437,381 (GRCm39) L241P probably damaging Het
Ecel1 T A 1: 87,078,861 (GRCm39) Y526F probably benign Het
Enpp2 T A 15: 54,733,701 (GRCm39) R420* probably null Het
Epb41 A C 4: 131,664,747 (GRCm39) probably benign Het
Eppin T C 2: 164,431,371 (GRCm39) Y85C probably damaging Het
Fam171a2 G A 11: 102,329,559 (GRCm39) A400V probably damaging Het
Fem1c A C 18: 46,639,436 (GRCm39) C189G probably damaging Het
Frmd4b A G 6: 97,277,275 (GRCm39) V560A probably benign Het
Fsip2 A T 2: 82,818,535 (GRCm39) D4756V probably damaging Het
Gabbr1 T C 17: 37,359,330 (GRCm39) S102P probably damaging Het
Garin3 G A 11: 46,297,863 (GRCm39) G389D probably damaging Het
Gm28042 G A 2: 119,865,124 (GRCm39) A250T probably damaging Het
Gm30275 T C 14: 54,312,978 (GRCm39) probably benign Het
Gm9762 A T 3: 78,873,707 (GRCm39) noncoding transcript Het
Gpr183 G T 14: 122,192,275 (GRCm39) T82N possibly damaging Het
Gps2 A G 11: 69,805,617 (GRCm39) K45R probably benign Het
Gramd2a A G 9: 59,621,603 (GRCm39) probably benign Het
Grap2 G A 15: 80,530,345 (GRCm39) R155Q possibly damaging Het
Hsdl1 T A 8: 120,292,606 (GRCm39) Y203F possibly damaging Het
Ifi204 A T 1: 173,583,234 (GRCm39) I328N probably damaging Het
Igsf3 T A 3: 101,346,677 (GRCm39) probably null Het
Il1rap T C 16: 26,442,949 (GRCm39) I15T probably benign Het
Il23r A T 6: 67,443,300 (GRCm39) C268S probably damaging Het
Irx4 A G 13: 73,417,040 (GRCm39) T479A probably benign Het
Kcnk7 G A 19: 5,756,352 (GRCm39) V193I probably benign Het
Kcnt1 G T 2: 25,799,334 (GRCm39) probably benign Het
Kif13b T G 14: 64,994,902 (GRCm39) C885G probably benign Het
Kif21b C A 1: 136,090,838 (GRCm39) D1215E probably benign Het
Klhdc2 A G 12: 69,343,736 (GRCm39) probably benign Het
Kmt2d G A 15: 98,745,075 (GRCm39) probably benign Het
Lama4 A G 10: 38,924,050 (GRCm39) N486S probably benign Het
Ldah G A 12: 8,277,237 (GRCm39) A58T probably benign Het
Lrrc24 T C 15: 76,600,200 (GRCm39) Q313R probably benign Het
Luzp1 A G 4: 136,270,708 (GRCm39) D977G possibly damaging Het
Meak7 A C 8: 120,494,882 (GRCm39) L292R probably damaging Het
Mrgpra4 A G 7: 47,631,466 (GRCm39) L45P probably damaging Het
Mrps28 C T 3: 8,988,756 (GRCm39) G34D possibly damaging Het
Myh8 A G 11: 67,189,184 (GRCm39) E1120G probably damaging Het
Myt1l A G 12: 29,882,302 (GRCm39) E499G unknown Het
Ncan C T 8: 70,567,675 (GRCm39) E146K probably damaging Het
Nlgn1 A T 3: 25,487,958 (GRCm39) D763E probably damaging Het
Or11g26 T C 14: 50,752,966 (GRCm39) F102L probably benign Het
Or13c7c G T 4: 43,836,433 (GRCm39) A19D probably benign Het
Or1e17 A T 11: 73,831,378 (GRCm39) Y102F possibly damaging Het
Or4c12 A T 2: 89,774,147 (GRCm39) I104N possibly damaging Het
Or5b118 C T 19: 13,448,910 (GRCm39) T192I probably benign Het
Or6c8b T A 10: 128,882,711 (GRCm39) I74F possibly damaging Het
Pak6 A T 2: 118,525,029 (GRCm39) I552F probably damaging Het
Pcbp1 G A 6: 86,501,897 (GRCm39) A334V probably damaging Het
Pclaf T C 9: 65,798,062 (GRCm39) V32A probably benign Het
Pga5 T A 19: 10,654,053 (GRCm39) H50L probably benign Het
Phyhipl A T 10: 70,404,904 (GRCm39) D56E probably damaging Het
Pik3ap1 C T 19: 41,270,415 (GRCm39) R758H probably benign Het
Plekha1 A G 7: 130,507,094 (GRCm39) probably benign Het
Plekhm1 A T 11: 103,278,141 (GRCm39) N318K possibly damaging Het
Ppargc1b G A 18: 61,440,725 (GRCm39) A731V probably benign Het
Pptc7 T C 5: 122,451,844 (GRCm39) V100A possibly damaging Het
Prl7a1 A T 13: 27,817,564 (GRCm39) H233Q possibly damaging Het
Prpf40a A G 2: 53,034,861 (GRCm39) F776L probably damaging Het
Prrc2c T C 1: 162,533,009 (GRCm39) probably benign Het
Psmb1 T C 17: 15,718,524 (GRCm39) M1V probably null Het
Ptpn3 A G 4: 57,218,513 (GRCm39) F650S possibly damaging Het
Ranbp17 A T 11: 33,354,181 (GRCm39) *577R probably null Het
Reln T A 5: 22,176,868 (GRCm39) N1933Y probably benign Het
Rgl2 T A 17: 34,156,094 (GRCm39) H727Q probably benign Het
Rhpn2 A G 7: 35,070,549 (GRCm39) T160A probably damaging Het
Rlf G A 4: 121,004,652 (GRCm39) H1443Y probably damaging Het
Rpgrip1l T C 8: 92,007,444 (GRCm39) E382G probably damaging Het
Rxrb T C 17: 34,252,562 (GRCm39) S50P probably benign Het
Scn4b A T 9: 45,059,056 (GRCm39) E109V probably damaging Het
Scrib C T 15: 75,923,602 (GRCm39) probably null Het
Slc22a29 A T 19: 8,195,194 (GRCm39) V147D probably damaging Het
Slc4a4 A T 5: 89,102,721 (GRCm39) E53V probably null Het
Slx4 A G 16: 3,819,063 (GRCm39) S37P possibly damaging Het
Spag9 G A 11: 94,013,548 (GRCm39) G1127D probably damaging Het
Srek1 T A 13: 103,889,064 (GRCm39) probably benign Het
Supt5 G T 7: 28,015,795 (GRCm39) P849Q probably damaging Het
Tex14 T C 11: 87,324,639 (GRCm39) S2P probably damaging Het
Them7 A G 2: 105,209,153 (GRCm39) T158A probably benign Het
Tll2 A G 19: 41,118,948 (GRCm39) V260A possibly damaging Het
Tlr6 A G 5: 65,111,644 (GRCm39) V421A probably benign Het
Tmc3 T G 7: 83,264,218 (GRCm39) C649G probably damaging Het
Tnn A G 1: 159,948,122 (GRCm39) W864R probably damaging Het
Tsc2 A C 17: 24,822,254 (GRCm39) V1095G probably benign Het
Vmn1r124 C T 7: 20,994,172 (GRCm39) G124D probably damaging Het
Vmn2r116 T C 17: 23,606,138 (GRCm39) V350A probably benign Het
Vps13d A G 4: 144,832,468 (GRCm39) S2813P possibly damaging Het
Wrap53 T A 11: 69,454,758 (GRCm39) M204L possibly damaging Het
Zfp277 A G 12: 40,378,687 (GRCm39) V390A possibly damaging Het
Zfp687 A T 3: 94,918,987 (GRCm39) S262T probably benign Het
Zfp831 T A 2: 174,547,103 (GRCm39) S1429T probably benign Het
Znfx1 G A 2: 166,907,307 (GRCm39) 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
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
R7205:Ccdc180 UTSW 4 45,914,588 (GRCm39) missense probably benign
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'- GGTCTCTTGATAGTACTCCAGC -3'

Sequencing Primer
(F):5'- ACTGCGTCCTTACACTTTAATATTGG -3'
(R):5'- TTGATAGTACTCCAGCACGTC -3'
Posted On 2016-06-15