Incidental Mutation 'R5510:Ccdc180'
ID 431130
Institutional Source Beutler Lab
Gene Symbol Ccdc180
Ensembl Gene ENSMUSG00000035539
Gene Name coiled-coil domain containing 180
Synonyms LOC381522, E230008N13Rik
MMRRC Submission 043071-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5510 (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 45928046 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1194 (T1194A)
Ref Sequence ENSEMBL: ENSMUSP00000136714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178561]
AlphaFold J3QNE4
Predicted Effect unknown
Transcript: ENSMUST00000149903
AA Change: T1018A
SMART Domains Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: T1018A

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 damaging
Transcript: ENSMUST00000178561
AA Change: T1194A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: T1194A

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 0.1863 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.3%
  • 10x: 95.1%
  • 20x: 90.1%
Validation Efficiency 99% (91/92)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl4 T G 3: 151,203,467 (GRCm39) I59R possibly damaging Het
Adgrv1 T A 13: 81,593,363 (GRCm39) D4208V probably damaging Het
Aimp2 A T 5: 143,843,347 (GRCm39) probably benign Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankib1 A G 5: 3,779,693 (GRCm39) V392A probably benign Het
Ap2b1 A G 11: 83,227,563 (GRCm39) probably null Het
Arsg A G 11: 109,418,700 (GRCm39) E232G probably benign Het
Axdnd1 A G 1: 156,162,920 (GRCm39) F144S probably benign Het
Bud13 T A 9: 46,203,498 (GRCm39) M111K probably damaging Het
Cav2 T C 6: 17,287,012 (GRCm39) F152S possibly damaging Het
Ccdc192 G A 18: 57,671,156 (GRCm39) probably null Het
Ccdc88c T C 12: 100,911,290 (GRCm39) K848R probably damaging Het
Ceacam15 A G 7: 16,406,024 (GRCm39) W176R probably damaging Het
Cenpf A T 1: 189,415,100 (GRCm39) D136E probably benign Het
Dclk2 T C 3: 86,813,344 (GRCm39) I201V possibly damaging Het
Defa24 T A 8: 22,224,612 (GRCm39) D20E probably damaging Het
Dgcr8 T C 16: 18,095,039 (GRCm39) N566D probably damaging Het
Dido1 C A 2: 180,326,966 (GRCm39) V386L probably benign Het
Dnah2 C T 11: 69,349,746 (GRCm39) R2399Q probably benign Het
Dtx3 G A 10: 127,028,807 (GRCm39) P141S probably benign Het
Fmn1 T C 2: 113,426,714 (GRCm39) Y1144H probably damaging Het
Gabbr2 A G 4: 46,734,113 (GRCm39) L535P probably damaging Het
Gimap3 T A 6: 48,742,183 (GRCm39) E249V possibly damaging Het
Git2 A T 5: 114,881,835 (GRCm39) probably null Het
Gm4922 T C 10: 18,659,745 (GRCm39) T326A probably benign Het
Gsdmc2 T G 15: 63,700,045 (GRCm39) E242D probably benign Het
Hdgfl2 G A 17: 56,389,118 (GRCm39) G31S possibly damaging Het
Herc2 A T 7: 55,856,519 (GRCm39) I3956F probably damaging Het
Hsf2bp G A 17: 32,165,721 (GRCm39) R134C unknown Het
Igf1r G C 7: 67,843,107 (GRCm39) R739S probably benign Het
Igkv4-51 T C 6: 69,658,443 (GRCm39) E102G probably damaging Het
Kif1a T G 1: 92,969,414 (GRCm39) I1156L possibly damaging Het
Kti12 T C 4: 108,705,821 (GRCm39) L245S probably damaging Het
Med17 A G 9: 15,181,700 (GRCm39) S17P probably benign Het
Mllt6 G A 11: 97,560,326 (GRCm39) S210N possibly damaging Het
Mrps18b A G 17: 36,225,215 (GRCm39) probably benign Het
Ms4a8a A G 19: 11,056,828 (GRCm39) S85P probably benign Het
Msln T C 17: 25,968,847 (GRCm39) Q487R probably benign Het
Myh13 A G 11: 67,228,549 (GRCm39) N363S probably benign Het
Myo6 T C 9: 80,152,942 (GRCm39) F192L probably damaging Het
Nfkbiz T C 16: 55,634,383 (GRCm39) D688G probably damaging Het
Nsun4 C T 4: 115,908,974 (GRCm39) V529I possibly damaging Het
Or12d15 A T 17: 37,694,192 (GRCm39) M245L probably benign Het
Or1j16 G A 2: 36,530,975 (GRCm39) R308K probably benign Het
Or5p70 G A 7: 107,994,332 (GRCm39) A2T probably benign Het
Phf11a C A 14: 59,516,834 (GRCm39) C208F probably damaging Het
Plekhh2 G A 17: 84,874,275 (GRCm39) C520Y probably benign Het
Plxna4 C A 6: 32,155,293 (GRCm39) M1550I probably damaging Het
Pnpla6 A T 8: 3,571,397 (GRCm39) Y140F probably damaging Het
Ppp1r12a T A 10: 108,085,488 (GRCm39) S478T possibly damaging Het
Prkcz C A 4: 155,357,393 (GRCm39) probably null Het
Prss55 T A 14: 64,314,574 (GRCm39) M199L probably damaging Het
Qrich1 G A 9: 108,433,659 (GRCm39) V651I possibly damaging Het
Ralyl T C 3: 13,842,005 (GRCm39) V47A probably damaging Het
Raph1 A T 1: 60,562,105 (GRCm39) probably benign Het
Rgs12 T C 5: 35,123,383 (GRCm39) Y389H probably damaging Het
Sec24b C A 3: 129,834,544 (GRCm39) G82V probably damaging Het
Sema4a A G 3: 88,357,293 (GRCm39) probably null Het
Slc25a11 A T 11: 70,536,361 (GRCm39) W149R probably damaging Het
Slc2a7 T G 4: 150,244,551 (GRCm39) S340A probably benign Het
Slc32a1 T A 2: 158,456,716 (GRCm39) M457K probably damaging Het
Spata31d1e T C 13: 59,890,234 (GRCm39) probably null Het
Spint4 C T 2: 164,542,812 (GRCm39) T135M probably damaging Het
Sult2a2 A C 7: 13,472,228 (GRCm39) N142H probably damaging Het
Tbc1d1 G A 5: 64,490,738 (GRCm39) G863D probably damaging Het
Tmem156 G A 5: 65,232,917 (GRCm39) T151M probably benign Het
Trip12 T C 1: 84,746,401 (GRCm39) Q459R probably damaging Het
Vmn2r116 G A 17: 23,605,095 (GRCm39) C136Y probably damaging Het
Vmn2r51 C T 7: 9,836,545 (GRCm39) V79M possibly damaging Het
Vmn2r67 A T 7: 84,801,023 (GRCm39) D304E probably benign Het
Wdr93 T A 7: 79,399,779 (GRCm39) F123I probably damaging Het
Zfp672 A T 11: 58,207,456 (GRCm39) C288* probably null Het
Zp1 T C 19: 10,896,769 (GRCm39) Y90C 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
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
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'- TCCTGAGTAAGCCCTTGTCC -3'
(R):5'- TTCCTAAGAGACAAGTGCATGG -3'

Sequencing Primer
(F):5'- GAGTAAGCCCTTGTCCCTGTAC -3'
(R):5'- TGCATGGAGCTGGCCCATAG -3'
Posted On 2016-10-05