Incidental Mutation 'R0362:Ccdc180'
ID 36222
Institutional Source Beutler Lab
Gene Symbol Ccdc180
Ensembl Gene ENSMUSG00000035539
Gene Name coiled-coil domain containing 180
Synonyms LOC381522, E230008N13Rik
MMRRC Submission 038568-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0362 (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 45923551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 1111 (K1111E)
Ref Sequence ENSEMBL: ENSMUSP00000136714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178561]
AlphaFold J3QNE4
Predicted Effect probably damaging
Transcript: ENSMUST00000149903
AA Change: K935E

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: K935E

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 probably benign
Transcript: ENSMUST00000151024
SMART Domains Protein: ENSMUSP00000122332
Gene: ENSMUSG00000035539

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 damaging
Transcript: ENSMUST00000178561
AA Change: K1111E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: K1111E

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 0.2584 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.6%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 99% (104/105)
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: 103 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,563,261 (GRCm39) Q401R probably benign Het
Acp3 A G 9: 104,191,626 (GRCm39) F220S probably damaging Het
Adam7 A G 14: 68,747,105 (GRCm39) probably benign Het
Adamts6 A G 13: 104,526,584 (GRCm39) probably null Het
Ascc3 T C 10: 50,625,051 (GRCm39) probably benign Het
Atg10 T C 13: 91,189,109 (GRCm39) probably null Het
Atm T C 9: 53,370,138 (GRCm39) I2325V possibly damaging Het
Btnl9 C T 11: 49,060,443 (GRCm39) R435H possibly damaging Het
Ciao2b T C 8: 105,368,222 (GRCm39) D34G probably null Het
Col11a2 T A 17: 34,281,420 (GRCm39) probably null Het
Ctcfl A G 2: 172,960,236 (GRCm39) W116R probably damaging Het
Ctsk A T 3: 95,408,255 (GRCm39) Y37F probably damaging Het
Daam2 G C 17: 49,787,813 (GRCm39) probably null Het
Dcdc2b T C 4: 129,504,031 (GRCm39) probably null Het
Ddx28 C T 8: 106,737,926 (GRCm39) R44Q probably damaging Het
Dhx29 T A 13: 113,099,393 (GRCm39) N1139K probably benign Het
Dnah17 A T 11: 117,989,365 (GRCm39) M1281K probably benign Het
Dnah6 T C 6: 73,185,592 (GRCm39) S110G probably benign Het
Drc7 T C 8: 95,799,483 (GRCm39) Y553H probably benign Het
Dync2h1 T C 9: 7,005,487 (GRCm39) probably null Het
Ecm1 A G 3: 95,644,369 (GRCm39) I152T possibly damaging Het
Edc4 C G 8: 106,613,407 (GRCm39) P307R probably damaging Het
Eeig2 C T 3: 108,887,497 (GRCm39) E256K probably benign Het
Egr1 A G 18: 34,996,366 (GRCm39) T383A possibly damaging Het
Eml2 A G 7: 18,924,731 (GRCm39) probably null Het
Eno4 A G 19: 58,932,056 (GRCm39) probably benign Het
Erbb4 A T 1: 68,369,429 (GRCm39) I404K probably damaging Het
Exoc7 G T 11: 116,186,488 (GRCm39) T310K probably benign Het
Fam83e G T 7: 45,376,393 (GRCm39) V369L probably benign Het
Fancc A T 13: 63,545,970 (GRCm39) I91K possibly damaging Het
Fbn1 T C 2: 125,151,697 (GRCm39) Q2519R probably damaging Het
Fhod3 T A 18: 25,223,133 (GRCm39) C826* probably null Het
Foxi3 A G 6: 70,933,612 (GRCm39) D33G probably benign Het
Gcn1 T C 5: 115,714,167 (GRCm39) probably benign Het
Gm14221 T C 2: 160,410,310 (GRCm39) noncoding transcript Het
Golga4 T A 9: 118,384,853 (GRCm39) H630Q probably benign Het
Gpat4 T C 8: 23,670,949 (GRCm39) S88G probably benign Het
Gucy2d A T 7: 98,092,892 (GRCm39) S90C probably damaging Het
Has2 A C 15: 56,545,057 (GRCm39) C182G probably damaging Het
Heatr5a A T 12: 51,935,644 (GRCm39) S1647R probably damaging Het
Ifi35 T C 11: 101,348,038 (GRCm39) V48A probably benign Het
Lig1 T A 7: 13,030,730 (GRCm39) probably benign Het
Magi2 A G 5: 19,432,573 (GRCm39) K96R probably damaging Het
Map7d1 G T 4: 126,128,787 (GRCm39) P462Q probably damaging Het
Mdn1 A T 4: 32,746,439 (GRCm39) probably null Het
Mfsd4a A T 1: 131,987,013 (GRCm39) V105E probably damaging Het
Mrpl53 C T 6: 83,086,526 (GRCm39) R77C probably damaging Het
Mtnr1b C T 9: 15,785,600 (GRCm39) V53M probably damaging Het
Myo9b T C 8: 71,800,414 (GRCm39) W990R probably damaging Het
Myt1 A T 2: 181,405,186 (GRCm39) probably benign Het
Nf1 C T 11: 79,427,704 (GRCm39) A1766V probably damaging Het
Nlrp3 T C 11: 59,439,623 (GRCm39) V400A possibly damaging Het
Nup205 T A 6: 35,173,649 (GRCm39) probably null Het
Nxf1 T C 19: 8,741,515 (GRCm39) probably null Het
Or7a36 A T 10: 78,820,220 (GRCm39) M199L probably benign Het
P4hb T C 11: 120,454,162 (GRCm39) K311E probably benign Het
Pafah1b1 T C 11: 74,574,457 (GRCm39) N243S probably benign Het
Parp8 G A 13: 117,061,504 (GRCm39) Q141* probably null Het
Pkd2l2 A C 18: 34,568,380 (GRCm39) D543A probably benign Het
Pld5 A T 1: 175,803,146 (GRCm39) L311* probably null Het
Plekha5 G A 6: 140,537,473 (GRCm39) R646K possibly damaging Het
Plpp5 A T 8: 26,214,219 (GRCm39) T144S probably benign Het
Ppp6r3 A G 19: 3,528,285 (GRCm39) L542S probably damaging Het
Prkar2b A T 12: 32,037,973 (GRCm39) probably null Het
Psmg1 A T 16: 95,789,171 (GRCm39) S129T possibly damaging Het
Radil T C 5: 142,529,582 (GRCm39) D38G probably benign Het
Ric1 T C 19: 29,578,411 (GRCm39) probably null Het
Rp1l1 T A 14: 64,268,515 (GRCm39) L1367* probably null Het
Rxfp1 A T 3: 79,645,100 (GRCm39) M1K probably null Het
Serpina6 G T 12: 103,618,208 (GRCm39) L202I probably damaging Het
Simc1 T C 13: 54,676,280 (GRCm39) I98T probably damaging Het
Slc17a6 A G 7: 51,308,519 (GRCm39) Y281C probably damaging Het
Slc26a11 T A 11: 119,270,767 (GRCm39) probably benign Het
Slc34a1 T A 13: 55,550,711 (GRCm39) probably null Het
Slfn10-ps T A 11: 82,926,600 (GRCm39) noncoding transcript Het
Sohlh2 A G 3: 55,115,163 (GRCm39) N383D probably damaging Het
Spag6 T A 2: 18,715,302 (GRCm39) L27H probably damaging Het
Sptlc3 A G 2: 139,388,475 (GRCm39) probably benign Het
St3gal4 T A 9: 34,964,469 (GRCm39) K199* probably null Het
Stat5a T A 11: 100,772,909 (GRCm39) D712E probably benign Het
Stmn2 A T 3: 8,610,750 (GRCm39) D78V probably damaging Het
Stpg1 C T 4: 135,233,777 (GRCm39) P20S possibly damaging Het
Taf2 A T 15: 54,909,325 (GRCm39) V640E probably damaging Het
Tbce T C 13: 14,172,747 (GRCm39) E501G probably benign Het
Tecpr2 A G 12: 110,935,374 (GRCm39) S1398G probably damaging Het
Tenm4 T A 7: 96,421,242 (GRCm39) Y598* probably null Het
Ticrr A G 7: 79,327,088 (GRCm39) S599G probably damaging Het
Tnc A C 4: 63,935,679 (GRCm39) V419G probably damaging Het
Trappc1 C A 11: 69,216,402 (GRCm39) P110T probably benign Het
Trbv12-2 C T 6: 41,095,993 (GRCm39) probably benign Het
Ttbk2 A T 2: 120,576,264 (GRCm39) N835K possibly damaging Het
Tubgcp5 A G 7: 55,450,432 (GRCm39) D181G probably damaging Het
Tut1 T C 19: 8,932,891 (GRCm39) Y75H possibly damaging Het
Ulk2 C A 11: 61,678,412 (GRCm39) C769F probably benign Het
Vdac1 T C 11: 52,265,800 (GRCm39) probably benign Het
Vmn2r124 T C 17: 18,284,486 (GRCm39) probably null Het
Vps8 T C 16: 21,426,977 (GRCm39) probably benign Het
Wdr35 T C 12: 9,045,625 (GRCm39) probably benign Het
Zdhhc7 T A 8: 120,813,386 (GRCm39) E141V probably null Het
Zfp12 C A 5: 143,230,978 (GRCm39) S435Y probably damaging Het
Zfp974 A T 7: 27,626,819 (GRCm39) probably benign Het
Zfyve9 T A 4: 108,538,166 (GRCm39) K1033N probably damaging Het
Zswim8 T A 14: 20,772,013 (GRCm39) S1572T possibly damaging 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
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
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'- TCCCCTGAAGAAGTTGAGACGCTG -3'
(R):5'- TCTTCCTGGCTGAGGTATACGGAC -3'

Sequencing Primer
(F):5'- CTGTCACTTCTGAAGAAAGGGC -3'
(R):5'- TGTGCCGGATGTTCACTAGA -3'
Posted On 2013-05-09