Incidental Mutation 'R2229:Ccdc180'
ID 239587
Institutional Source Beutler Lab
Gene Symbol Ccdc180
Ensembl Gene ENSMUSG00000035539
Gene Name coiled-coil domain containing 180
Synonyms LOC381522, E230008N13Rik
MMRRC Submission 040230-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2229 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 45890303-45950774 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to T at 45948856 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178561]
AlphaFold J3QNE4
Predicted Effect probably null
Transcript: ENSMUST00000149903
SMART Domains Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539

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 null
Transcript: ENSMUST00000178561
SMART Domains Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539

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 0.9487 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 99% (78/79)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam24 A T 8: 41,133,404 (GRCm39) I291L probably benign Het
Adcy8 C A 15: 64,694,056 (GRCm39) R407L possibly damaging Het
Adgb A T 10: 10,311,795 (GRCm39) V212E probably damaging Het
Adgrg7 C T 16: 56,572,766 (GRCm39) S350N probably benign Het
Agbl1 A G 7: 76,083,126 (GRCm39) T448A probably benign Het
Aldh1l1 C G 6: 90,560,168 (GRCm39) T605R probably damaging Het
Arfip1 A T 3: 84,455,280 (GRCm39) N18K probably damaging Het
Atp6v1b2 C A 8: 69,555,411 (GRCm39) probably null Het
Banp G A 8: 122,705,424 (GRCm39) S98N probably damaging Het
Btnl9 T C 11: 49,059,945 (GRCm39) D601G probably damaging Het
C9 T C 15: 6,474,901 (GRCm39) I20T possibly damaging Het
Cacna1b A G 2: 24,575,816 (GRCm39) V744A probably damaging Het
Catsper3 A G 13: 55,955,867 (GRCm39) E311G probably damaging Het
Cdc5l A G 17: 45,718,772 (GRCm39) Y615H probably benign Het
Crybg2 TGGAGGAGGAGGAGGAGGAG TGGAGGAGGAGGAGGAG 4: 133,801,837 (GRCm39) probably benign Het
Eml4 C T 17: 83,758,485 (GRCm39) P502S probably benign Het
Fsip1 T C 2: 118,052,925 (GRCm39) E367G probably benign Het
Gja3 T C 14: 57,274,171 (GRCm39) D67G probably damaging Het
Gm4894 T C 9: 49,185,490 (GRCm39) probably benign Het
Gm7853 A G 14: 35,811,484 (GRCm39) noncoding transcript Het
Gmps T G 3: 63,921,684 (GRCm39) Y562* probably null Het
Golga2 C A 2: 32,196,477 (GRCm39) P976T probably benign Het
Gpr182 T A 10: 127,586,010 (GRCm39) I314F possibly damaging Het
Gprc6a A G 10: 51,502,891 (GRCm39) V324A possibly damaging Het
Gykl1 A G 18: 52,828,339 (GRCm39) T516A probably benign Het
H2ac21 T C 3: 96,127,422 (GRCm39) L64P possibly damaging Het
Ifit1bl2 G T 19: 34,596,630 (GRCm39) L329M possibly damaging Het
Igsf9b T C 9: 27,244,792 (GRCm39) S920P probably damaging Het
Kif3c T A 12: 3,416,671 (GRCm39) S231T probably benign Het
Kpna7 A T 5: 144,926,507 (GRCm39) Y482N probably damaging Het
Lmnb2 T C 10: 80,740,226 (GRCm39) probably benign Het
Lrrc69 T C 4: 14,773,694 (GRCm39) S121G probably benign Het
Mppe1 A G 18: 67,361,082 (GRCm39) probably null Het
Muc5b T A 7: 141,415,381 (GRCm39) C2776S possibly damaging Het
Myh8 T G 11: 67,199,174 (GRCm39) N1893K probably damaging Het
Myo7a T C 7: 97,704,117 (GRCm39) T1932A probably benign Het
Nbn A G 4: 15,970,904 (GRCm39) T296A probably benign Het
Nckap1l T C 15: 103,364,361 (GRCm39) probably null Het
Nek5 A T 8: 22,603,648 (GRCm39) N151K possibly damaging Het
Nup93 C T 8: 95,030,819 (GRCm39) T305I probably benign Het
Oca2 T A 7: 56,006,903 (GRCm39) H663Q probably benign Het
Optn T A 2: 5,028,928 (GRCm39) H525L probably damaging Het
Pdzph1 A G 17: 59,239,407 (GRCm39) probably benign Het
Pikfyve A G 1: 65,307,014 (GRCm39) K1801E probably damaging Het
Pkd2l2 G A 18: 34,563,382 (GRCm39) V478M probably damaging Het
Pmepa1 G A 2: 173,069,926 (GRCm39) R210W probably damaging Het
Ppp1r3c C A 19: 36,711,098 (GRCm39) R224L probably benign Het
Prpf19 A G 19: 10,874,962 (GRCm39) T39A probably benign Het
Pwwp2b T C 7: 138,835,104 (GRCm39) C182R probably damaging Het
Rcan3 T C 4: 135,152,688 (GRCm39) D11G probably benign Het
Rgsl1 C A 1: 153,698,104 (GRCm39) W482L possibly damaging Het
Sfxn4 C T 19: 60,839,458 (GRCm39) G200E probably damaging Het
Slc4a8 T C 15: 100,707,180 (GRCm39) I848T probably damaging Het
Slc7a13 T C 4: 19,839,399 (GRCm39) V334A probably benign Het
Smarcc2 A G 10: 128,324,210 (GRCm39) probably benign Het
Spata18 A T 5: 73,824,244 (GRCm39) I156L possibly damaging Het
Spats2 T C 15: 99,072,334 (GRCm39) probably null Het
Tas2r104 G A 6: 131,662,095 (GRCm39) H205Y probably damaging Het
Tcof1 A G 18: 60,965,249 (GRCm39) probably benign Het
Tex15 C A 8: 34,061,265 (GRCm39) H232N probably benign Het
Tg A T 15: 66,545,860 (GRCm39) Q194L probably damaging Het
Tnfrsf22 C T 7: 143,198,513 (GRCm39) probably null Het
Trim25 T A 11: 88,907,447 (GRCm39) V602E probably damaging Het
Ttll9 A G 2: 152,824,983 (GRCm39) E54G probably damaging Het
Ttn T C 2: 76,559,668 (GRCm39) T29578A probably damaging Het
Tubgcp5 A G 7: 55,480,629 (GRCm39) Q960R probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Usp13 A G 3: 32,971,700 (GRCm39) I727V probably benign Het
Vmn2r67 T A 7: 84,801,250 (GRCm39) I229F probably benign Het
Vmn2r92 A C 17: 18,387,654 (GRCm39) I220L probably benign Het
Wnk4 T A 11: 101,166,467 (GRCm39) probably benign Het
Wwp1 A T 4: 19,641,745 (GRCm39) Y437N probably damaging Het
Zdhhc5 A G 2: 84,520,557 (GRCm39) I540T probably damaging Het
Zfp729b T C 13: 67,743,384 (GRCm39) I60M probably 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
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
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'- TTTCCAGAGTGAGGCCTCTC -3'
(R):5'- AACTCTCAGTATGTGCTGGGTG -3'

Sequencing Primer
(F):5'- GAGGCCTCTCATCTCTAAATATGAC -3'
(R):5'- GACCCCACCTTTCTCTTCAAACAG -3'
Posted On 2014-10-15