Incidental Mutation 'R0054:Ccdc180'
ID 40972
Institutional Source Beutler Lab
Gene Symbol Ccdc180
Ensembl Gene ENSMUSG00000035539
Gene Name coiled-coil domain containing 180
Synonyms LOC381522, E230008N13Rik
MMRRC Submission 038348-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0054 (G1)
Quality Score 157
Status Validated
Chromosome 4
Chromosomal Location 45890303-45950774 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45890900 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 24 (V24E)
Ref Sequence ENSEMBL: ENSMUSP00000136714 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030011] [ENSMUST00000107782] [ENSMUST00000107783] [ENSMUST00000178561]
AlphaFold J3QNE4
Predicted Effect probably benign
Transcript: ENSMUST00000030011
SMART Domains Protein: ENSMUSP00000030011
Gene: ENSMUSG00000028327

DomainStartEndE-ValueType
Pfam:RBP_receptor 13 602 8.7e-228 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107782
SMART Domains Protein: ENSMUSP00000103411
Gene: ENSMUSG00000028327

DomainStartEndE-ValueType
Pfam:RBP_receptor 1 512 2.8e-221 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107783
SMART Domains Protein: ENSMUSP00000103412
Gene: ENSMUSG00000028327

DomainStartEndE-ValueType
Pfam:RBP_receptor 12 603 1e-254 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127261
Predicted Effect unknown
Transcript: ENSMUST00000149903
AA Change: V16E
SMART Domains Protein: ENSMUSP00000119784
Gene: ENSMUSG00000035539
AA Change: V16E

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 noncoding transcript
Transcript: ENSMUST00000165478
Predicted Effect probably benign
Transcript: ENSMUST00000178561
AA Change: V24E

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000136714
Gene: ENSMUSG00000035539
AA Change: V24E

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 0.1025 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.5%
Validation Efficiency 99% (83/84)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,547,500 (GRCm39) probably null Het
Ahnak T A 19: 8,989,420 (GRCm39) V3568E probably damaging Het
Alpi T C 1: 87,027,487 (GRCm39) E293G possibly damaging Het
Apoa4 A G 9: 46,153,822 (GRCm39) D141G probably benign Het
Atg9a T C 1: 75,161,143 (GRCm39) Y701C probably damaging Het
Baz2b C T 2: 59,762,510 (GRCm39) R922Q probably damaging Het
Bmal2 T G 6: 146,731,216 (GRCm39) V507G probably benign Het
Bpnt1 G A 1: 185,073,413 (GRCm39) probably benign Het
Brms1 T A 19: 5,096,727 (GRCm39) C136* probably null Het
Cdh17 A G 4: 11,785,186 (GRCm39) Y326C possibly damaging Het
Cgn A T 3: 94,669,899 (GRCm39) D1080E possibly damaging Het
Clec4f C T 6: 83,629,911 (GRCm39) V216M probably benign Het
Cpd C G 11: 76,681,664 (GRCm39) G1160R probably damaging Het
Csf2ra A G 19: 61,215,035 (GRCm39) L143P probably damaging Het
Ddb2 G T 2: 91,065,165 (GRCm39) Q87K probably benign Het
Defb41 A G 1: 18,321,471 (GRCm39) Y48H probably damaging Het
Dido1 T C 2: 180,303,267 (GRCm39) N1546D probably benign Het
Dll1 A T 17: 15,589,216 (GRCm39) H486Q probably damaging Het
Dmac1 A G 4: 75,196,337 (GRCm39) V51A possibly damaging Het
Dnajb11 C T 16: 22,681,369 (GRCm39) A49V probably damaging Het
Dnajc14 G A 10: 128,643,448 (GRCm39) D457N probably damaging Het
Eif3a C A 19: 60,755,264 (GRCm39) D973Y unknown Het
Entpd3 T A 9: 120,386,608 (GRCm39) N196K probably damaging Het
Fam53a C A 5: 33,765,076 (GRCm39) G210V probably damaging Het
Farsb T A 1: 78,439,011 (GRCm39) K395* probably null Het
Fem1b A G 9: 62,704,082 (GRCm39) S393P probably damaging Het
Fsip2 T A 2: 82,806,952 (GRCm39) D1090E probably damaging Het
Fsip2 A C 2: 82,817,299 (GRCm39) N4344T possibly damaging Het
Gata3 G A 2: 9,863,258 (GRCm39) P419S probably damaging Het
Gm7247 T A 14: 51,807,057 (GRCm39) probably benign Het
Gphn A G 12: 78,684,277 (GRCm39) S558G probably damaging Het
Gpr142 C A 11: 114,689,755 (GRCm39) H2Q probably benign Het
Grhpr T C 4: 44,988,915 (GRCm39) probably benign Het
Grik3 C A 4: 125,517,368 (GRCm39) N70K probably damaging Het
Gsap T A 5: 21,455,933 (GRCm39) probably benign Het
Iars1 T A 13: 49,846,611 (GRCm39) C237S probably damaging Het
Itprid1 T C 6: 55,849,457 (GRCm39) probably benign Het
Kank2 G A 9: 21,685,970 (GRCm39) R635* probably null Het
Kcnj16 G T 11: 110,915,549 (GRCm39) W70C probably damaging Het
Kpna6 T C 4: 129,551,251 (GRCm39) M85V probably benign Het
Kri1 G A 9: 21,186,661 (GRCm39) S447L probably damaging Het
L2hgdh G A 12: 69,768,105 (GRCm39) P131L possibly damaging Het
Lrp1b A G 2: 40,632,829 (GRCm39) V3528A probably benign Het
Lrrc46 A T 11: 96,929,605 (GRCm39) L77Q probably damaging Het
Mdc1 A G 17: 36,159,925 (GRCm39) T678A probably benign Het
Mrpl44 T C 1: 79,757,212 (GRCm39) L219S probably damaging Het
Myo7a T C 7: 97,714,905 (GRCm39) D112G probably damaging Het
Ncoa3 A G 2: 165,897,098 (GRCm39) T630A possibly damaging Het
Nsl1 T C 1: 190,814,381 (GRCm39) L194P probably damaging Het
Or4k39 G A 2: 111,239,140 (GRCm39) G127S probably benign Het
Or5ac23 T C 16: 59,149,428 (GRCm39) Y148C possibly damaging Het
Or8u10 T C 2: 85,915,705 (GRCm39) K139E probably benign Het
Pde4d A G 13: 109,876,955 (GRCm39) S159G probably benign Het
Pi4ka T C 16: 17,142,978 (GRCm39) R845G probably null Het
Pld1 A G 3: 28,150,033 (GRCm39) probably benign Het
Pramel25 T A 4: 143,521,572 (GRCm39) L396H probably damaging Het
Psd T A 19: 46,311,781 (GRCm39) I300F probably damaging Het
Ptprz1 T A 6: 22,986,195 (GRCm39) W332R probably damaging Het
Rab3d A T 9: 21,827,222 (GRCm39) S3T possibly damaging Het
Rnf212 T A 5: 108,893,530 (GRCm39) M70L possibly damaging Het
Scd3 A G 19: 44,204,076 (GRCm39) Y88C probably damaging Het
Sema4f A G 6: 82,896,674 (GRCm39) probably benign Het
Sez6 C A 11: 77,844,699 (GRCm39) T7K possibly damaging Het
Skint2 T C 4: 112,502,660 (GRCm39) I290T probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc35e1 T C 8: 73,246,415 (GRCm39) probably benign Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc5a3 T A 16: 91,874,522 (GRCm39) I193N probably damaging Het
Slc5a4a A G 10: 76,014,031 (GRCm39) I413V probably null Het
Snip1 T A 4: 124,966,633 (GRCm39) Y354* probably null Het
Spata31d1c A G 13: 65,180,876 (GRCm39) probably benign Het
Speer2 G A 16: 69,655,640 (GRCm39) T62M probably damaging Het
Tmco5 A G 2: 116,717,768 (GRCm39) Y200C probably damaging Het
Tmem87b T A 2: 128,673,361 (GRCm39) probably benign Het
Trim43c A T 9: 88,729,568 (GRCm39) K336N probably damaging Het
Trim60 T C 8: 65,453,973 (GRCm39) E92G probably benign Het
Ttc21a C A 9: 119,773,006 (GRCm39) Q228K probably damaging Het
Ttn A T 2: 76,626,804 (GRCm39) D13067E possibly damaging Het
Ufl1 A T 4: 25,269,087 (GRCm39) I168N probably damaging Het
Vmn1r167 T G 7: 23,204,334 (GRCm39) R227S possibly damaging Het
Vmn2r25 T A 6: 123,829,984 (GRCm39) I56L probably benign Het
Zfp385c G A 11: 100,520,782 (GRCm39) P293S probably benign Het
Zfp473 T A 7: 44,383,899 (GRCm39) S144C 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
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
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'- TTTCCCCTTAAACAAGGTGTCCTGTG -3'
(R):5'- TGAGACCAAATGCCCCAATGTTCTTC -3'

Sequencing Primer
(F):5'- CTGTGGGATCTAGTGCTGTC -3'
(R):5'- tgggagaagatggggtgg -3'
Posted On 2013-05-23