Incidental Mutation 'R9328:Ccdc180'
ID 706630
Institutional Source Beutler Lab
Gene Symbol Ccdc180
Ensembl Gene ENSMUSG00000035539
Gene Name coiled-coil domain containing 180
Synonyms LOC381522, E230008N13Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9328 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 45890303-45950774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 45902447 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 292 (N292S)
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: N284S

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 possibly damaging
Transcript: ENSMUST00000178561
AA Change: N292S

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: N292S

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik A G 7: 37,894,272 (GRCm39) T102A probably benign Het
1700109H08Rik A G 5: 3,632,161 (GRCm39) K164E possibly damaging Het
2610042L04Rik C T 14: 4,350,013 (GRCm38) Q74* probably null Het
Aadacl4fm4 T A 4: 144,401,256 (GRCm39) H76L probably benign Het
Adgrb2 T A 4: 129,915,363 (GRCm39) M1381K probably damaging Het
Adgrv1 C A 13: 81,620,523 (GRCm39) D3975Y probably damaging Het
Ano10 C T 9: 122,090,168 (GRCm39) E382K possibly damaging Het
Ascc3 T C 10: 50,535,015 (GRCm39) V636A probably damaging Het
AU040320 T C 4: 126,729,332 (GRCm39) V498A possibly damaging Het
Bahcc1 C T 11: 120,165,885 (GRCm39) T1047I possibly damaging Het
BC004004 A T 17: 29,501,682 (GRCm39) T74S possibly damaging Het
Bend3 A G 10: 43,387,419 (GRCm39) D604G possibly damaging Het
Brinp3 T A 1: 146,707,455 (GRCm39) V373E probably damaging Het
Bsph2 A T 7: 13,290,764 (GRCm39) D38E probably benign Het
Castor1 T C 11: 4,170,423 (GRCm39) F140L probably benign Het
Catsperd A G 17: 56,965,074 (GRCm39) I474V possibly damaging Het
Cd1d1 A T 3: 86,905,459 (GRCm39) V178E possibly damaging Het
Cdca2 T A 14: 67,931,131 (GRCm39) R521W probably damaging Het
Champ1 A G 8: 13,929,392 (GRCm39) K517E probably damaging Het
Chrna9 T C 5: 66,128,569 (GRCm39) F259S probably damaging Het
Chuk A T 19: 44,085,422 (GRCm39) C241* probably null Het
Clns1a A G 7: 97,363,240 (GRCm39) Y204C probably benign Het
Cplane1 A G 15: 8,215,692 (GRCm39) D416G probably damaging Het
Cyp2j7 A T 4: 96,115,869 (GRCm39) N192K probably damaging Het
Ddr2 A G 1: 169,829,504 (GRCm39) V250A probably benign Het
Dlgap2 A G 8: 14,777,441 (GRCm39) S229G probably damaging Het
Dmrt1 A T 19: 25,523,231 (GRCm39) H194L probably damaging Het
Dock7 A T 4: 98,968,064 (GRCm39) F138I Het
Dsg2 T C 18: 20,715,847 (GRCm39) V263A possibly damaging Het
Dusp16 A G 6: 134,716,902 (GRCm39) L135P probably damaging Het
Dysf A G 6: 84,050,895 (GRCm39) N414S probably damaging Het
Efhc1 A G 1: 21,030,598 (GRCm39) Y177C probably damaging Het
Fam83e A T 7: 45,372,912 (GRCm39) R174S probably benign Het
Fgf4 C T 7: 144,416,664 (GRCm39) L199F probably damaging Het
Fignl2 A G 15: 100,951,271 (GRCm39) L337P unknown Het
Gm4353 T C 7: 115,682,724 (GRCm39) R286G probably damaging Het
Gm5142 T C 14: 59,416,126 (GRCm39) S11G probably benign Het
Gpr151 A G 18: 42,712,270 (GRCm39) V136A probably damaging Het
Ift80 T A 3: 68,847,483 (GRCm39) I338F probably damaging Het
Itgb4 A G 11: 115,880,625 (GRCm39) S693G probably benign Het
Kif13a T A 13: 46,951,838 (GRCm39) I812F probably damaging Het
Krit1 T C 5: 3,862,577 (GRCm39) probably null Het
Mapk6 T C 9: 75,305,252 (GRCm39) D55G possibly damaging Het
Matn3 A G 12: 9,002,033 (GRCm39) I82V possibly damaging Het
Mecom T A 3: 30,063,994 (GRCm39) D32V unknown Het
Nacad T C 11: 6,552,417 (GRCm39) H258R possibly damaging Het
Ndufaf5 T A 2: 140,030,752 (GRCm39) S213T possibly damaging Het
Nphp1 C T 2: 127,582,892 (GRCm39) D674N possibly damaging Het
Nsmaf A G 4: 6,426,412 (GRCm39) L250P probably damaging Het
Ogdh T C 11: 6,297,838 (GRCm39) S571P probably benign Het
Or1e31 T C 11: 73,690,478 (GRCm39) Y35C probably damaging Het
Or51i2 T A 7: 103,689,268 (GRCm39) D88E Het
Or8g27 T C 9: 39,129,175 (GRCm39) I174T probably damaging Het
Osbpl11 A G 16: 33,047,245 (GRCm39) I403V probably damaging Het
Peg10 CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG CCACATCAGGATCCACATCAGGATGCACATCAG 6: 4,756,398 (GRCm39) probably benign Het
Pira13 T A 7: 3,827,580 (GRCm39) R192S unknown Het
Plat A G 8: 23,268,133 (GRCm39) R300G probably damaging Het
Ppid T C 3: 79,505,059 (GRCm39) I134T probably damaging Het
Rad51ap2 A G 12: 11,507,772 (GRCm39) I565V probably benign Het
Rasa1 T C 13: 85,403,575 (GRCm39) probably null Het
Sema4a C T 3: 88,345,613 (GRCm39) W490* probably null Het
Septin3 A G 15: 82,173,439 (GRCm39) Y257C probably damaging Het
Sh3rf2 C A 18: 42,274,161 (GRCm39) F442L probably benign Het
Sipa1l1 A G 12: 82,388,792 (GRCm39) I339M possibly damaging Het
Six2 T C 17: 85,995,196 (GRCm39) N62S possibly damaging Het
Slc44a5 T C 3: 153,964,678 (GRCm39) I526T probably benign Het
Smarca5 T C 8: 81,447,378 (GRCm39) S402G probably benign Het
Son T A 16: 91,452,645 (GRCm39) V464E possibly damaging Het
Sorcs3 A G 19: 48,785,950 (GRCm39) K1144E probably damaging Het
Stxbp6 A G 12: 44,902,659 (GRCm39) L204P probably damaging Het
Tchh A G 3: 93,351,570 (GRCm39) R337G unknown Het
Tgm4 T C 9: 122,885,697 (GRCm39) V413A possibly damaging Het
Tmem131 G A 1: 36,858,236 (GRCm39) Q704* probably null Het
Tmpo T C 10: 90,998,825 (GRCm39) K321E probably damaging Het
Trim75 G T 8: 65,435,315 (GRCm39) N378K probably benign Het
Tspan18 T A 2: 93,036,065 (GRCm39) I227F probably benign Het
Ttn C T 2: 76,541,526 (GRCm39) W33820* probably null Het
Urb2 T A 8: 124,774,034 (GRCm39) Y1522N probably damaging Het
Zbtb40 T C 4: 136,745,620 (GRCm39) N138D probably benign Het
Zfp715 A T 7: 42,947,328 (GRCm39) H877Q 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
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
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
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'- GAAGACCTCTGGCAAAGTGG -3'
(R):5'- TCCAGGAAGAGTCAGTGGTG -3'

Sequencing Primer
(F):5'- AAAGTGGTCCTCTGCACG -3'
(R):5'- CCTGGAACTCACTTTGTAGATCAGG -3'
Posted On 2022-04-18