Incidental Mutation 'R1865:Ccdc18'
ID 208602
Institutional Source Beutler Lab
Gene Symbol Ccdc18
Ensembl Gene ENSMUSG00000056531
Gene Name coiled-coil domain containing 18
Synonyms 1700021E15Rik, 4932411G06Rik
MMRRC Submission 039888-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1865 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 108280741-108381494 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 108341668 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 854 (D854E)
Ref Sequence ENSEMBL: ENSMUSP00000036507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047677]
AlphaFold Q640L5
Predicted Effect probably benign
Transcript: ENSMUST00000047677
AA Change: D854E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: D854E

DomainStartEndE-ValueType
coiled coil region 109 140 N/A INTRINSIC
coiled coil region 168 320 N/A INTRINSIC
coiled coil region 344 405 N/A INTRINSIC
coiled coil region 507 1307 N/A INTRINSIC
Meta Mutation Damage Score 0.0573 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency 98% (99/101)
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012P17Rik A G 1: 158,797,094 (GRCm39) noncoding transcript Het
Aatk G A 11: 119,901,048 (GRCm39) T1059M probably benign Het
Adgrg2 G A X: 159,265,347 (GRCm39) M532I probably benign Het
Agrn GCTCT GCTCTCT 4: 156,250,976 (GRCm39) probably null Het
Ahcyl2 G A 6: 29,908,354 (GRCm39) V575M probably damaging Het
Apobr A G 7: 126,185,140 (GRCm39) D217G probably benign Het
Aqp9 A C 9: 71,019,658 (GRCm39) N267K probably benign Het
Arap2 A G 5: 62,855,606 (GRCm39) V610A probably damaging Het
Arhgap21 T C 2: 20,866,015 (GRCm39) E893G probably damaging Het
Atn1 T C 6: 124,722,259 (GRCm39) probably benign Het
Bcl7a A T 5: 123,494,032 (GRCm39) D68V probably damaging Het
Cbl A C 9: 44,075,462 (GRCm39) C394W probably damaging Het
Ccdc93 A T 1: 121,426,956 (GRCm39) E580V probably damaging Het
Cd180 T A 13: 102,842,517 (GRCm39) M521K probably benign Het
Cd300ld2 T G 11: 114,903,444 (GRCm39) probably benign Het
Cdh10 T C 15: 18,899,690 (GRCm39) F6L probably benign Het
Cep78 A G 19: 15,933,368 (GRCm39) S737P probably damaging Het
Ces1f G T 8: 94,000,893 (GRCm39) probably benign Het
Clcn1 T A 6: 42,282,475 (GRCm39) D442E probably damaging Het
Col20a1 T C 2: 180,657,606 (GRCm39) L1250P possibly damaging Het
Crispld2 G A 8: 120,737,306 (GRCm39) G19E probably benign Het
Ctbp2 C T 7: 132,592,283 (GRCm39) A849T probably benign Het
Cts6 A G 13: 61,349,393 (GRCm39) I105T probably benign Het
Cul4a A G 8: 13,192,589 (GRCm39) T617A possibly damaging Het
Cyp2c68 G T 19: 39,722,733 (GRCm39) R272S probably benign Het
Cystm1 A G 18: 36,499,729 (GRCm39) Y48C unknown Het
Dach1 T A 14: 98,077,645 (GRCm39) R579S possibly damaging Het
Ddrgk1 A T 2: 130,496,215 (GRCm39) I270N probably damaging Het
Dhx32 A T 7: 133,339,025 (GRCm39) C197S probably benign Het
Dnah10 A C 5: 124,909,590 (GRCm39) probably null Het
Ecm2 T C 13: 49,683,621 (GRCm39) V533A probably benign Het
Eif4g1 A G 16: 20,497,398 (GRCm39) T202A probably damaging Het
Ephb4 A T 5: 137,361,572 (GRCm39) Q525L possibly damaging Het
F2 T C 2: 91,465,539 (GRCm39) D82G probably benign Het
Fam184b G T 5: 45,689,231 (GRCm39) N868K possibly damaging Het
Fbxo25 A G 8: 13,985,248 (GRCm39) T314A probably damaging Het
Folh1 A G 7: 86,375,114 (GRCm39) M624T possibly damaging Het
Gabra5 G A 7: 57,138,940 (GRCm39) R71* probably null Het
Gmpr G T 13: 45,696,101 (GRCm39) V278F probably damaging Het
Hmcn1 A T 1: 150,479,563 (GRCm39) C4634S probably damaging Het
Hspa5 T C 2: 34,664,553 (GRCm39) F336L probably damaging Het
Igfbp4 G A 11: 98,932,512 (GRCm39) G64R probably damaging Het
Itch G A 2: 155,010,666 (GRCm39) V45I probably damaging Het
Itgb1 T A 8: 129,446,938 (GRCm39) F484L probably benign Het
Itpr3 A G 17: 27,338,997 (GRCm39) I2593V probably benign Het
Kcnj8 T A 6: 142,515,966 (GRCm39) H47L probably damaging Het
Lcn2 T C 2: 32,275,434 (GRCm39) T194A possibly damaging Het
Mast4 A T 13: 102,930,625 (GRCm39) V209D probably damaging Het
Matn3 T A 12: 9,002,041 (GRCm39) D84E probably damaging Het
Mcm7 T A 5: 138,168,637 (GRCm39) Q18L possibly damaging Het
Mctp1 G A 13: 76,533,267 (GRCm39) C205Y possibly damaging Het
Megf11 A G 9: 64,587,581 (GRCm39) T460A probably benign Het
Mlh1 A T 9: 111,086,092 (GRCm39) probably benign Het
Mylk T A 16: 34,732,600 (GRCm39) S627T probably benign Het
Nat2 A G 8: 67,954,204 (GRCm39) M105V possibly damaging Het
Nav2 A G 7: 49,197,943 (GRCm39) T2A possibly damaging Het
Ndst3 A T 3: 123,465,120 (GRCm39) I284N probably damaging Het
Nfix A G 8: 85,498,904 (GRCm39) V23A possibly damaging Het
Nr2f1 T C 13: 78,338,045 (GRCm39) Y200C probably damaging Het
Or14a258 T C 7: 86,035,769 (GRCm39) Y33C probably damaging Het
Or2g25 T C 17: 37,970,754 (GRCm39) I157V possibly damaging Het
Or6b13 G A 7: 139,782,285 (GRCm39) R133C probably damaging Het
Or8d1b T C 9: 38,887,200 (GRCm39) V76A probably benign Het
Or8u8 T G 2: 86,011,882 (GRCm39) D191A probably damaging Het
Pcdhb21 T C 18: 37,647,648 (GRCm39) V259A possibly damaging Het
Phip A T 9: 82,827,845 (GRCm39) V127E probably damaging Het
Pik3r5 A G 11: 68,383,318 (GRCm39) D379G probably damaging Het
Pkdrej A T 15: 85,704,525 (GRCm39) C470* probably null Het
Plxnd1 A T 6: 115,946,402 (GRCm39) probably null Het
Polr1a G A 6: 71,943,508 (GRCm39) V1248I probably damaging Het
Pou3f2 A T 4: 22,486,917 (GRCm39) C405* probably null Het
Ppp1r3a A T 6: 14,718,404 (GRCm39) S837T probably damaging Het
Rest T A 5: 77,428,745 (GRCm39) V388E probably damaging Het
Rnft2 A T 5: 118,370,540 (GRCm39) W220R probably damaging Het
Rnpc3 A T 3: 113,415,559 (GRCm39) Y107* probably null Het
Senp8 G A 9: 59,644,835 (GRCm39) S94F probably damaging Het
Ski A G 4: 155,306,698 (GRCm39) S94P possibly damaging Het
Skint8 A G 4: 111,794,192 (GRCm39) D194G probably damaging Het
Slc35c2 C A 2: 165,120,303 (GRCm39) R232L probably benign Het
Slc43a3 T A 2: 84,777,245 (GRCm39) V198D possibly damaging Het
Slc8b1 A T 5: 120,667,717 (GRCm39) N467I probably damaging Het
Srbd1 A G 17: 86,422,732 (GRCm39) probably benign Het
Sstr3 T C 15: 78,424,168 (GRCm39) H193R probably damaging Het
Sv2c A C 13: 96,113,283 (GRCm39) S555R probably benign Het
Tagln3 A G 16: 45,532,013 (GRCm39) V173A possibly damaging Het
Tctn2 C A 5: 124,757,143 (GRCm39) noncoding transcript Het
Tfap2a G T 13: 40,881,884 (GRCm39) H167Q probably damaging Het
Tmem213 A G 6: 38,086,487 (GRCm39) T48A possibly damaging Het
Tmem30c A G 16: 57,090,352 (GRCm39) probably benign Het
Tmem37 A G 1: 119,995,952 (GRCm39) S42P probably damaging Het
Tnxb C T 17: 34,922,431 (GRCm39) Q2415* probably null Het
Ttyh1 T C 7: 4,122,730 (GRCm39) L26P probably damaging Het
Ubn2 T A 6: 38,417,425 (GRCm39) D154E possibly damaging Het
Vdac3 A T 8: 23,070,553 (GRCm39) Y119* probably null Het
Vmn2r58 T C 7: 41,486,682 (GRCm39) I738V possibly damaging Het
Zfp704 A G 3: 9,539,551 (GRCm39) probably benign Het
Znfx1 G A 2: 166,880,729 (GRCm39) R352W probably damaging Het
Other mutations in Ccdc18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Ccdc18 APN 5 108,328,391 (GRCm39) missense probably benign 0.01
IGL01380:Ccdc18 APN 5 108,328,753 (GRCm39) missense probably damaging 0.96
IGL01405:Ccdc18 APN 5 108,350,052 (GRCm39) splice site probably benign
IGL01718:Ccdc18 APN 5 108,349,214 (GRCm39) missense possibly damaging 0.81
IGL02098:Ccdc18 APN 5 108,349,977 (GRCm39) missense probably damaging 1.00
IGL02227:Ccdc18 APN 5 108,296,788 (GRCm39) missense possibly damaging 0.89
IGL02391:Ccdc18 APN 5 108,283,918 (GRCm39) missense probably damaging 1.00
IGL02794:Ccdc18 APN 5 108,319,614 (GRCm39) missense probably benign 0.00
IGL02808:Ccdc18 APN 5 108,283,835 (GRCm39) splice site probably benign
IGL02880:Ccdc18 APN 5 108,283,310 (GRCm39) missense probably benign 0.31
IGL03069:Ccdc18 APN 5 108,376,767 (GRCm39) missense probably damaging 1.00
IGL03390:Ccdc18 APN 5 108,359,997 (GRCm39) missense probably damaging 1.00
PIT4402001:Ccdc18 UTSW 5 108,306,485 (GRCm39) missense possibly damaging 0.94
R0004:Ccdc18 UTSW 5 108,309,566 (GRCm39) missense possibly damaging 0.52
R0112:Ccdc18 UTSW 5 108,321,627 (GRCm39) missense probably damaging 1.00
R0295:Ccdc18 UTSW 5 108,321,655 (GRCm39) missense probably damaging 1.00
R0546:Ccdc18 UTSW 5 108,322,830 (GRCm39) missense probably benign 0.06
R0619:Ccdc18 UTSW 5 108,328,282 (GRCm39) missense probably benign 0.04
R0648:Ccdc18 UTSW 5 108,322,853 (GRCm39) missense probably damaging 1.00
R0648:Ccdc18 UTSW 5 108,283,426 (GRCm39) missense probably damaging 0.99
R0666:Ccdc18 UTSW 5 108,311,530 (GRCm39) missense probably benign 0.19
R1271:Ccdc18 UTSW 5 108,349,982 (GRCm39) nonsense probably null
R1509:Ccdc18 UTSW 5 108,336,844 (GRCm39) missense possibly damaging 0.89
R1539:Ccdc18 UTSW 5 108,339,843 (GRCm39) missense probably damaging 1.00
R1542:Ccdc18 UTSW 5 108,360,054 (GRCm39) missense probably benign
R1663:Ccdc18 UTSW 5 108,363,956 (GRCm39) missense probably damaging 1.00
R1870:Ccdc18 UTSW 5 108,368,703 (GRCm39) missense possibly damaging 0.90
R1897:Ccdc18 UTSW 5 108,343,908 (GRCm39) missense probably benign 0.00
R1946:Ccdc18 UTSW 5 108,376,861 (GRCm39) missense probably damaging 1.00
R2420:Ccdc18 UTSW 5 108,376,454 (GRCm39) missense probably damaging 0.96
R2421:Ccdc18 UTSW 5 108,376,454 (GRCm39) missense probably damaging 0.96
R2422:Ccdc18 UTSW 5 108,376,454 (GRCm39) missense probably damaging 0.96
R4078:Ccdc18 UTSW 5 108,306,394 (GRCm39) nonsense probably null
R4079:Ccdc18 UTSW 5 108,306,394 (GRCm39) nonsense probably null
R4244:Ccdc18 UTSW 5 108,296,838 (GRCm39) nonsense probably null
R4409:Ccdc18 UTSW 5 108,368,708 (GRCm39) nonsense probably null
R4428:Ccdc18 UTSW 5 108,283,943 (GRCm39) missense probably benign 0.01
R4455:Ccdc18 UTSW 5 108,309,395 (GRCm39) missense possibly damaging 0.68
R4499:Ccdc18 UTSW 5 108,376,826 (GRCm39) missense possibly damaging 0.62
R4612:Ccdc18 UTSW 5 108,283,307 (GRCm39) missense probably benign 0.01
R4907:Ccdc18 UTSW 5 108,284,007 (GRCm39) missense probably benign 0.01
R4972:Ccdc18 UTSW 5 108,339,869 (GRCm39) missense probably benign
R5039:Ccdc18 UTSW 5 108,306,514 (GRCm39) critical splice donor site probably null
R5835:Ccdc18 UTSW 5 108,288,740 (GRCm39) missense possibly damaging 0.94
R5854:Ccdc18 UTSW 5 108,354,594 (GRCm39) missense possibly damaging 0.79
R6128:Ccdc18 UTSW 5 108,311,625 (GRCm39) missense possibly damaging 0.76
R6229:Ccdc18 UTSW 5 108,319,484 (GRCm39) missense probably benign 0.00
R6271:Ccdc18 UTSW 5 108,322,753 (GRCm39) missense possibly damaging 0.65
R6315:Ccdc18 UTSW 5 108,309,448 (GRCm39) missense probably benign
R6359:Ccdc18 UTSW 5 108,283,391 (GRCm39) missense probably damaging 1.00
R6375:Ccdc18 UTSW 5 108,322,820 (GRCm39) missense possibly damaging 0.79
R6388:Ccdc18 UTSW 5 108,349,214 (GRCm39) missense possibly damaging 0.81
R6415:Ccdc18 UTSW 5 108,309,612 (GRCm39) missense probably benign 0.03
R6560:Ccdc18 UTSW 5 108,339,790 (GRCm39) missense probably benign 0.09
R6645:Ccdc18 UTSW 5 108,286,796 (GRCm39) missense probably benign
R6664:Ccdc18 UTSW 5 108,315,966 (GRCm39) nonsense probably null
R6836:Ccdc18 UTSW 5 108,345,833 (GRCm39) missense probably damaging 1.00
R6947:Ccdc18 UTSW 5 108,309,401 (GRCm39) missense probably benign 0.26
R7009:Ccdc18 UTSW 5 108,321,728 (GRCm39) critical splice donor site probably null
R7052:Ccdc18 UTSW 5 108,309,554 (GRCm39) missense probably benign 0.15
R7058:Ccdc18 UTSW 5 108,341,664 (GRCm39) missense probably benign
R7087:Ccdc18 UTSW 5 108,343,988 (GRCm39) missense probably benign
R7117:Ccdc18 UTSW 5 108,296,835 (GRCm39) missense possibly damaging 0.95
R7176:Ccdc18 UTSW 5 108,315,972 (GRCm39) missense probably benign
R7382:Ccdc18 UTSW 5 108,286,873 (GRCm39) missense probably damaging 1.00
R7477:Ccdc18 UTSW 5 108,368,716 (GRCm39) missense probably damaging 0.98
R7493:Ccdc18 UTSW 5 108,354,483 (GRCm39) nonsense probably null
R7506:Ccdc18 UTSW 5 108,311,605 (GRCm39) missense possibly damaging 0.85
R7635:Ccdc18 UTSW 5 108,376,915 (GRCm39) critical splice donor site probably null
R7690:Ccdc18 UTSW 5 108,376,528 (GRCm39) missense probably benign 0.00
R7748:Ccdc18 UTSW 5 108,296,907 (GRCm39) critical splice donor site probably null
R7812:Ccdc18 UTSW 5 108,328,699 (GRCm39) missense probably benign 0.00
R8017:Ccdc18 UTSW 5 108,376,511 (GRCm39) nonsense probably null
R8019:Ccdc18 UTSW 5 108,376,511 (GRCm39) nonsense probably null
R8172:Ccdc18 UTSW 5 108,311,640 (GRCm39) critical splice donor site probably null
R8177:Ccdc18 UTSW 5 108,345,661 (GRCm39) missense possibly damaging 0.65
R8344:Ccdc18 UTSW 5 108,309,369 (GRCm39) missense possibly damaging 0.88
R8351:Ccdc18 UTSW 5 108,303,663 (GRCm39) missense probably damaging 1.00
R8415:Ccdc18 UTSW 5 108,363,899 (GRCm39) missense probably damaging 1.00
R8451:Ccdc18 UTSW 5 108,303,663 (GRCm39) missense probably damaging 1.00
R8547:Ccdc18 UTSW 5 108,345,725 (GRCm39) missense probably damaging 1.00
R8725:Ccdc18 UTSW 5 108,328,283 (GRCm39) missense possibly damaging 0.66
R9137:Ccdc18 UTSW 5 108,296,856 (GRCm39) missense probably damaging 0.98
R9391:Ccdc18 UTSW 5 108,376,770 (GRCm39) missense probably benign 0.02
R9418:Ccdc18 UTSW 5 108,303,669 (GRCm39) missense probably damaging 1.00
R9536:Ccdc18 UTSW 5 108,286,792 (GRCm39) missense probably benign 0.01
R9565:Ccdc18 UTSW 5 108,339,800 (GRCm39) missense probably damaging 0.99
RF013:Ccdc18 UTSW 5 108,368,582 (GRCm39) missense probably benign 0.05
X0024:Ccdc18 UTSW 5 108,339,788 (GRCm39) missense probably benign 0.01
X0063:Ccdc18 UTSW 5 108,360,063 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TTTCACCATACCAAAGCTTACCTTG -3'
(R):5'- ATGCTACAGGAACTTAGGCTATGAAG -3'

Sequencing Primer
(F):5'- TGCTTAACAGGTATCAAAGC -3'
(R):5'- CCAATACATCATTGAAAGGG -3'
Posted On 2014-06-30