Incidental Mutation 'R1509:Ccdc18'
ID 168130
Institutional Source Beutler Lab
Gene Symbol Ccdc18
Ensembl Gene ENSMUSG00000056531
Gene Name coiled-coil domain containing 18
Synonyms 4932411G06Rik, 1700021E15Rik
MMRRC Submission 039556-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1509 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 108132875-108233628 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 108188978 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 741 (A741D)
Ref Sequence ENSEMBL: ENSMUSP00000036507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047677]
AlphaFold Q640L5
Predicted Effect possibly damaging
Transcript: ENSMUST00000047677
AA Change: A741D

PolyPhen 2 Score 0.892 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: A741D

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 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 93.1%
Validation Efficiency 99% (89/90)
Allele List at MGI
Other mutations in this stock
Total: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik T C 13: 77,192,647 (GRCm38) S132P probably benign Het
4930430A15Rik A T 2: 111,218,627 (GRCm38) M269K probably benign Het
AC153895.1 T C 6: 50,043,471 (GRCm38) R54G unknown Het
Acot12 G A 13: 91,771,875 (GRCm38) probably null Het
Adhfe1 T A 1: 9,553,446 (GRCm38) D98E probably benign Het
Ago2 A G 15: 73,116,364 (GRCm38) F594S probably damaging Het
Aldh18a1 A G 19: 40,557,483 (GRCm38) I620T probably damaging Het
Aspscr1 C A 11: 120,701,516 (GRCm38) A294D probably damaging Het
BC067074 A G 13: 113,368,256 (GRCm38) N431S probably damaging Het
Bod1l C G 5: 41,819,540 (GRCm38) R1477T probably damaging Het
Ces4a G A 8: 105,138,097 (GRCm38) G69S probably damaging Het
Cfap52 C T 11: 67,938,993 (GRCm38) V317I probably benign Het
Cgn A T 3: 94,774,258 (GRCm38) L509Q probably benign Het
Crb2 A G 2: 37,786,619 (GRCm38) H204R probably benign Het
Ddx39 G A 8: 83,719,898 (GRCm38) V99M probably damaging Het
Dis3l2 T A 1: 87,021,086 (GRCm38) C582S possibly damaging Het
Dmbt1 G A 7: 131,074,331 (GRCm38) probably benign Het
Dnah6 T C 6: 73,027,442 (GRCm38) E3846G probably damaging Het
Dstyk A G 1: 132,456,346 (GRCm38) E655G probably damaging Het
Epha4 T C 1: 77,380,886 (GRCm38) Y825C probably damaging Het
Esp36 T A 17: 38,417,282 (GRCm38) N36I probably damaging Het
Fabp3 C T 4: 130,312,387 (GRCm38) T57I probably benign Het
Fem1c A G 18: 46,524,213 (GRCm38) S145P probably benign Het
Galnt13 T C 2: 54,733,082 (GRCm38) I80T probably damaging Het
Gm10125 A G 18: 5,583,794 (GRCm38) noncoding transcript Het
Gm5698 T C 1: 30,977,647 (GRCm38) T108A probably benign Het
Hipk3 A G 2: 104,441,262 (GRCm38) S442P probably benign Het
Hmcn2 T A 2: 31,314,479 (GRCm38) V22D possibly damaging Het
Hspg2 C T 4: 137,511,241 (GRCm38) probably benign Het
Ide A G 19: 37,285,204 (GRCm38) probably null Het
Ifnar1 C A 16: 91,503,496 (GRCm38) P462Q probably damaging Het
Itgb2l T A 16: 96,426,849 (GRCm38) I485F probably benign Het
Jakmip3 C T 7: 139,027,776 (GRCm38) R549W possibly damaging Het
Lrrc36 A G 8: 105,461,129 (GRCm38) Q680R probably damaging Het
Lysmd3 T G 13: 81,669,271 (GRCm38) H122Q probably benign Het
Macf1 C A 4: 123,684,009 (GRCm38) V61L possibly damaging Het
Map1b T C 13: 99,431,528 (GRCm38) T1562A unknown Het
Map3k20 A T 2: 72,364,624 (GRCm38) probably benign Het
Mroh8 A G 2: 157,233,205 (GRCm38) V457A probably benign Het
Mrpl40 T A 16: 18,875,409 (GRCm38) probably null Het
Ms4a10 C T 19: 10,964,108 (GRCm38) V166I probably benign Het
Mycl A G 4: 123,000,307 (GRCm38) D300G probably damaging Het
Naca T A 10: 128,043,397 (GRCm38) probably benign Het
Ncoa4 T C 14: 32,173,434 (GRCm38) S172P probably damaging Het
Nfatc3 T C 8: 106,083,854 (GRCm38) F421L possibly damaging Het
Nucb1 C A 7: 45,495,225 (GRCm38) K301N probably benign Het
Olfr1451 T A 19: 12,999,451 (GRCm38) I155N possibly damaging Het
Olfr366 A G 2: 37,219,954 (GRCm38) H155R probably damaging Het
Olfr629 A T 7: 103,741,036 (GRCm38) M68K probably benign Het
Panx1 A T 9: 15,010,045 (GRCm38) V178E possibly damaging Het
Pkd1l3 G A 8: 109,640,770 (GRCm38) V1210I probably damaging Het
Polr2a A T 11: 69,747,213 (GRCm38) H143Q possibly damaging Het
Prdm12 G A 2: 31,654,174 (GRCm38) R263H probably damaging Het
Prkdc A C 16: 15,731,566 (GRCm38) K1998T probably damaging Het
Rab11fip1 A T 8: 27,153,023 (GRCm38) S583T probably damaging Het
Rnf157 T A 11: 116,347,095 (GRCm38) T567S probably benign Het
Rp1 T C 1: 4,347,694 (GRCm38) K1065R probably damaging Het
Rp1 A G 1: 4,348,537 (GRCm38) I784T probably benign Het
Rps10 A C 17: 27,631,208 (GRCm38) F150V probably benign Het
Rrp12 A T 19: 41,882,200 (GRCm38) F499I probably damaging Het
Sez6l2 G A 7: 126,963,363 (GRCm38) R604H probably damaging Het
Slc25a21 G T 12: 56,858,079 (GRCm38) Q57K probably benign Het
Slc27a2 A G 2: 126,553,314 (GRCm38) T54A possibly damaging Het
Slc9a9 T A 9: 95,228,958 (GRCm38) S610T probably benign Het
Smc1b A T 15: 85,086,134 (GRCm38) S973T probably benign Het
Smc6 G A 12: 11,279,733 (GRCm38) S164N possibly damaging Het
Sp1 A G 15: 102,407,879 (GRCm38) T32A possibly damaging Het
Spen T C 4: 141,475,635 (GRCm38) I1894V probably benign Het
Spen T C 4: 141,475,700 (GRCm38) K1872R possibly damaging Het
Stab1 C A 14: 31,151,584 (GRCm38) probably benign Het
Taar7d T G 10: 24,028,204 (GRCm38) F328C probably damaging Het
Ticam1 A T 17: 56,271,113 (GRCm38) S327R probably benign Het
Tmem248 C T 5: 130,229,454 (GRCm38) probably benign Het
Tom1 T C 8: 75,054,631 (GRCm38) S83P probably damaging Het
Txk T A 5: 72,699,110 (GRCm38) Y446F probably damaging Het
Ubap1l T A 9: 65,371,955 (GRCm38) C179S probably benign Het
Utrn T C 10: 12,455,441 (GRCm38) E474G possibly damaging Het
Vmn2r14 T C 5: 109,215,996 (GRCm38) M685V probably benign Het
Vmn2r7 A T 3: 64,716,460 (GRCm38) Y146* probably null Het
Wdr1 G A 5: 38,540,562 (GRCm38) T220M probably damaging Het
Xpo7 T C 14: 70,678,142 (GRCm38) D726G probably damaging Het
Zbtb14 C G 17: 69,387,764 (GRCm38) I152M probably benign Het
Zbtb3 A G 19: 8,803,407 (GRCm38) D128G probably damaging Het
Zfp462 T A 4: 55,007,667 (GRCm38) D35E probably damaging Het
Zfp467 A G 6: 48,438,687 (GRCm38) S344P possibly damaging Het
Zfpm1 A T 8: 122,307,546 (GRCm38) D73V possibly damaging Het
Other mutations in Ccdc18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00836:Ccdc18 APN 5 108,180,525 (GRCm38) missense probably benign 0.01
IGL01380:Ccdc18 APN 5 108,180,887 (GRCm38) missense probably damaging 0.96
IGL01405:Ccdc18 APN 5 108,202,186 (GRCm38) splice site probably benign
IGL01718:Ccdc18 APN 5 108,201,348 (GRCm38) missense possibly damaging 0.81
IGL02098:Ccdc18 APN 5 108,202,111 (GRCm38) missense probably damaging 1.00
IGL02227:Ccdc18 APN 5 108,148,922 (GRCm38) missense possibly damaging 0.89
IGL02391:Ccdc18 APN 5 108,136,052 (GRCm38) missense probably damaging 1.00
IGL02794:Ccdc18 APN 5 108,171,748 (GRCm38) missense probably benign 0.00
IGL02808:Ccdc18 APN 5 108,135,969 (GRCm38) splice site probably benign
IGL02880:Ccdc18 APN 5 108,135,444 (GRCm38) missense probably benign 0.31
IGL03069:Ccdc18 APN 5 108,228,901 (GRCm38) missense probably damaging 1.00
IGL03390:Ccdc18 APN 5 108,212,131 (GRCm38) missense probably damaging 1.00
PIT4402001:Ccdc18 UTSW 5 108,158,619 (GRCm38) missense possibly damaging 0.94
R0004:Ccdc18 UTSW 5 108,161,700 (GRCm38) missense possibly damaging 0.52
R0112:Ccdc18 UTSW 5 108,173,761 (GRCm38) missense probably damaging 1.00
R0295:Ccdc18 UTSW 5 108,173,789 (GRCm38) missense probably damaging 1.00
R0546:Ccdc18 UTSW 5 108,174,964 (GRCm38) missense probably benign 0.06
R0619:Ccdc18 UTSW 5 108,180,416 (GRCm38) missense probably benign 0.04
R0648:Ccdc18 UTSW 5 108,174,987 (GRCm38) missense probably damaging 1.00
R0648:Ccdc18 UTSW 5 108,135,560 (GRCm38) missense probably damaging 0.99
R0666:Ccdc18 UTSW 5 108,163,664 (GRCm38) missense probably benign 0.19
R1271:Ccdc18 UTSW 5 108,202,116 (GRCm38) nonsense probably null
R1539:Ccdc18 UTSW 5 108,191,977 (GRCm38) missense probably damaging 1.00
R1542:Ccdc18 UTSW 5 108,212,188 (GRCm38) missense probably benign
R1663:Ccdc18 UTSW 5 108,216,090 (GRCm38) missense probably damaging 1.00
R1865:Ccdc18 UTSW 5 108,193,802 (GRCm38) missense probably benign 0.00
R1870:Ccdc18 UTSW 5 108,220,837 (GRCm38) missense possibly damaging 0.90
R1897:Ccdc18 UTSW 5 108,196,042 (GRCm38) missense probably benign 0.00
R1946:Ccdc18 UTSW 5 108,228,995 (GRCm38) missense probably damaging 1.00
R2420:Ccdc18 UTSW 5 108,228,588 (GRCm38) missense probably damaging 0.96
R2421:Ccdc18 UTSW 5 108,228,588 (GRCm38) missense probably damaging 0.96
R2422:Ccdc18 UTSW 5 108,228,588 (GRCm38) missense probably damaging 0.96
R4078:Ccdc18 UTSW 5 108,158,528 (GRCm38) nonsense probably null
R4079:Ccdc18 UTSW 5 108,158,528 (GRCm38) nonsense probably null
R4244:Ccdc18 UTSW 5 108,148,972 (GRCm38) nonsense probably null
R4409:Ccdc18 UTSW 5 108,220,842 (GRCm38) nonsense probably null
R4428:Ccdc18 UTSW 5 108,136,077 (GRCm38) missense probably benign 0.01
R4455:Ccdc18 UTSW 5 108,161,529 (GRCm38) missense possibly damaging 0.68
R4499:Ccdc18 UTSW 5 108,228,960 (GRCm38) missense possibly damaging 0.62
R4612:Ccdc18 UTSW 5 108,135,441 (GRCm38) missense probably benign 0.01
R4907:Ccdc18 UTSW 5 108,136,141 (GRCm38) missense probably benign 0.01
R4972:Ccdc18 UTSW 5 108,192,003 (GRCm38) missense probably benign
R5039:Ccdc18 UTSW 5 108,158,648 (GRCm38) critical splice donor site probably null
R5835:Ccdc18 UTSW 5 108,140,874 (GRCm38) missense possibly damaging 0.94
R5854:Ccdc18 UTSW 5 108,206,728 (GRCm38) missense possibly damaging 0.79
R6128:Ccdc18 UTSW 5 108,163,759 (GRCm38) missense possibly damaging 0.76
R6229:Ccdc18 UTSW 5 108,171,618 (GRCm38) missense probably benign 0.00
R6271:Ccdc18 UTSW 5 108,174,887 (GRCm38) missense possibly damaging 0.65
R6315:Ccdc18 UTSW 5 108,161,582 (GRCm38) missense probably benign
R6359:Ccdc18 UTSW 5 108,135,525 (GRCm38) missense probably damaging 1.00
R6375:Ccdc18 UTSW 5 108,174,954 (GRCm38) missense possibly damaging 0.79
R6388:Ccdc18 UTSW 5 108,201,348 (GRCm38) missense possibly damaging 0.81
R6415:Ccdc18 UTSW 5 108,161,746 (GRCm38) missense probably benign 0.03
R6560:Ccdc18 UTSW 5 108,191,924 (GRCm38) missense probably benign 0.09
R6645:Ccdc18 UTSW 5 108,138,930 (GRCm38) missense probably benign
R6664:Ccdc18 UTSW 5 108,168,100 (GRCm38) nonsense probably null
R6836:Ccdc18 UTSW 5 108,197,967 (GRCm38) missense probably damaging 1.00
R6947:Ccdc18 UTSW 5 108,161,535 (GRCm38) missense probably benign 0.26
R7009:Ccdc18 UTSW 5 108,173,862 (GRCm38) critical splice donor site probably null
R7052:Ccdc18 UTSW 5 108,161,688 (GRCm38) missense probably benign 0.15
R7058:Ccdc18 UTSW 5 108,193,798 (GRCm38) missense probably benign
R7087:Ccdc18 UTSW 5 108,196,122 (GRCm38) missense probably benign
R7117:Ccdc18 UTSW 5 108,148,969 (GRCm38) missense possibly damaging 0.95
R7176:Ccdc18 UTSW 5 108,168,106 (GRCm38) missense probably benign
R7382:Ccdc18 UTSW 5 108,139,007 (GRCm38) missense probably damaging 1.00
R7477:Ccdc18 UTSW 5 108,220,850 (GRCm38) missense probably damaging 0.98
R7493:Ccdc18 UTSW 5 108,206,617 (GRCm38) nonsense probably null
R7506:Ccdc18 UTSW 5 108,163,739 (GRCm38) missense possibly damaging 0.85
R7635:Ccdc18 UTSW 5 108,229,049 (GRCm38) critical splice donor site probably null
R7690:Ccdc18 UTSW 5 108,228,662 (GRCm38) missense probably benign 0.00
R7748:Ccdc18 UTSW 5 108,149,041 (GRCm38) critical splice donor site probably null
R7812:Ccdc18 UTSW 5 108,180,833 (GRCm38) missense probably benign 0.00
R8017:Ccdc18 UTSW 5 108,228,645 (GRCm38) nonsense probably null
R8019:Ccdc18 UTSW 5 108,228,645 (GRCm38) nonsense probably null
R8172:Ccdc18 UTSW 5 108,163,774 (GRCm38) critical splice donor site probably null
R8177:Ccdc18 UTSW 5 108,197,795 (GRCm38) missense possibly damaging 0.65
R8344:Ccdc18 UTSW 5 108,161,503 (GRCm38) missense possibly damaging 0.88
R8351:Ccdc18 UTSW 5 108,155,797 (GRCm38) missense probably damaging 1.00
R8415:Ccdc18 UTSW 5 108,216,033 (GRCm38) missense probably damaging 1.00
R8451:Ccdc18 UTSW 5 108,155,797 (GRCm38) missense probably damaging 1.00
R8547:Ccdc18 UTSW 5 108,197,859 (GRCm38) missense probably damaging 1.00
R8725:Ccdc18 UTSW 5 108,180,417 (GRCm38) missense possibly damaging 0.66
R9137:Ccdc18 UTSW 5 108,148,990 (GRCm38) missense probably damaging 0.98
R9391:Ccdc18 UTSW 5 108,228,904 (GRCm38) missense probably benign 0.02
R9418:Ccdc18 UTSW 5 108,155,803 (GRCm38) missense probably damaging 1.00
R9536:Ccdc18 UTSW 5 108,138,926 (GRCm38) missense probably benign 0.01
R9565:Ccdc18 UTSW 5 108,191,934 (GRCm38) missense probably damaging 0.99
RF013:Ccdc18 UTSW 5 108,220,716 (GRCm38) missense probably benign 0.05
X0024:Ccdc18 UTSW 5 108,191,922 (GRCm38) missense probably benign 0.01
X0063:Ccdc18 UTSW 5 108,212,197 (GRCm38) missense probably benign
Predicted Primers
Posted On 2014-04-13