Incidental Mutation 'R2421:Ccdc18'
ID 249281
Institutional Source Beutler Lab
Gene Symbol Ccdc18
Ensembl Gene ENSMUSG00000056531
Gene Name coiled-coil domain containing 18
Synonyms 4932411G06Rik, 1700021E15Rik
MMRRC Submission 040383-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2421 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 108132875-108233628 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to C at 108228588 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 1298 (E1298D)
Ref Sequence ENSEMBL: ENSMUSP00000036507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047677]
AlphaFold Q640L5
Predicted Effect probably damaging
Transcript: ENSMUST00000047677
AA Change: E1298D

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: E1298D

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 0.0809 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.2%
Validation Efficiency 96% (81/84)
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas1 C T 5: 100,812,174 (GRCm38) R104H possibly damaging Het
Adamts3 A G 5: 89,683,175 (GRCm38) S1007P probably damaging Het
Adcy10 T A 1: 165,558,597 (GRCm38) L1118Q probably damaging Het
Adgre4 A G 17: 55,778,872 (GRCm38) E57G probably benign Het
Alpk2 T C 18: 65,306,616 (GRCm38) S1036G probably benign Het
Ank3 T C 10: 69,982,204 (GRCm38) probably benign Het
Ankfy1 T A 11: 72,755,896 (GRCm38) probably benign Het
Antxrl A G 14: 34,071,689 (GRCm38) probably benign Het
Apaf1 A T 10: 91,020,723 (GRCm38) V874D probably damaging Het
Arhgap39 T A 15: 76,725,146 (GRCm38) T1025S probably damaging Het
Arhgef12 A T 9: 43,001,006 (GRCm38) C519S probably damaging Het
Aspm G A 1: 139,488,487 (GRCm38) V1512M possibly damaging Het
Atp13a3 T C 16: 30,349,825 (GRCm38) T449A probably benign Het
Atxn2 A T 5: 121,802,079 (GRCm38) probably null Het
Birc6 T A 17: 74,660,614 (GRCm38) L301Q probably damaging Het
Camk2d A G 3: 126,780,415 (GRCm38) D157G probably damaging Het
Ccdc122 T C 14: 77,091,663 (GRCm38) probably benign Het
Ccdc137 G A 11: 120,462,264 (GRCm38) probably null Het
Col4a3 G A 1: 82,670,275 (GRCm38) probably benign Het
Coq10b G A 1: 55,052,977 (GRCm38) A35T probably benign Het
Cracdl C A 1: 37,613,475 (GRCm38) V1084L probably benign Het
Creb3l3 T C 10: 81,091,818 (GRCm38) I47V probably benign Het
Csgalnact1 A T 8: 68,461,508 (GRCm38) I15N probably benign Het
Dcp1b A G 6: 119,215,266 (GRCm38) Q381R probably benign Het
Dnajc21 A G 15: 10,461,935 (GRCm38) S127P probably benign Het
Dnal1 C T 12: 84,136,706 (GRCm38) Q80* probably null Het
Dtd2 A G 12: 51,999,855 (GRCm38) V67A probably benign Het
Gart A G 16: 91,643,040 (GRCm38) probably null Het
Gm17421 T A 12: 113,369,487 (GRCm38) noncoding transcript Het
Gm6327 T C 16: 12,760,094 (GRCm38) noncoding transcript Het
Gm8674 T C 13: 49,900,663 (GRCm38) noncoding transcript Het
Gpr107 G A 2: 31,185,529 (GRCm38) G351S probably damaging Het
H2-M10.5 A G 17: 36,774,999 (GRCm38) I308V probably benign Het
Krt13 A T 11: 100,120,051 (GRCm38) L159Q probably benign Het
Krt78 T C 15: 101,947,264 (GRCm38) E704G probably damaging Het
Lama1 A T 17: 67,750,553 (GRCm38) M541L probably benign Het
Lenep G A 3: 89,402,574 (GRCm38) probably null Het
Lrp1b T C 2: 40,882,133 (GRCm38) probably benign Het
Ly6g6e G A 17: 35,078,146 (GRCm38) R121Q probably benign Het
Lyn C T 4: 3,748,787 (GRCm38) A255V possibly damaging Het
Mdn1 T A 4: 32,723,621 (GRCm38) I2519K probably damaging Het
Mmaa T A 8: 79,281,432 (GRCm38) R59W probably damaging Het
Ms4a4b A G 19: 11,454,697 (GRCm38) I61V possibly damaging Het
Ndufaf1 T C 2: 119,655,737 (GRCm38) E298G probably damaging Het
Olfr175-ps1 T C 16: 58,824,346 (GRCm38) D121G probably damaging Het
Or10d5 A G 9: 39,950,528 (GRCm38) L81P possibly damaging Het
Or13a1 T A 6: 116,493,713 (GRCm38) C35S probably benign Het
Or4c114 T C 2: 89,074,992 (GRCm38) Y33C possibly damaging Het
Or5k15 T C 16: 58,889,965 (GRCm38) E85G probably benign Het
Pef1 C A 4: 130,127,317 (GRCm38) C221* probably null Het
Plekhg1 G A 10: 3,958,048 (GRCm38) M988I probably benign Het
Pnliprp1 T A 19: 58,744,085 (GRCm38) I460N probably benign Het
Ppfia4 T C 1: 134,327,400 (GRCm38) N239S probably benign Het
Ppp4r3a A G 12: 101,042,653 (GRCm38) probably benign Het
Prlr T A 15: 10,319,257 (GRCm38) W91R probably damaging Het
Psmd2 T A 16: 20,660,106 (GRCm38) probably null Het
Ptprt T A 2: 162,278,040 (GRCm38) probably benign Het
Pttg1ip2 T C 5: 5,455,912 (GRCm38) Y123C probably benign Het
Rbm12b2 T C 4: 12,095,127 (GRCm38) F662S possibly damaging Het
Rgs6 C A 12: 83,116,283 (GRCm38) T421K possibly damaging Het
Ryr2 T G 13: 11,591,237 (GRCm38) Q4486H probably damaging Het
Scn7a A T 2: 66,726,302 (GRCm38) probably benign Het
Smc1a A G X: 152,047,975 (GRCm38) probably benign Het
Synrg A G 11: 84,009,224 (GRCm38) E674G probably damaging Het
Syt9 G A 7: 107,436,781 (GRCm38) R335K probably benign Het
Taar7a T C 10: 23,992,517 (GRCm38) N322S probably damaging Het
Tfb2m C A 1: 179,533,666 (GRCm38) W252C possibly damaging Het
Tmub2 T A 11: 102,287,755 (GRCm38) D161E probably benign Het
Ttc23l G A 15: 10,537,566 (GRCm38) S206L probably benign Het
Tyw1 A T 5: 130,269,260 (GRCm38) H214L probably damaging Het
Tyw5 A G 1: 57,396,748 (GRCm38) I82T possibly damaging Het
Uba6 A G 5: 86,132,616 (GRCm38) probably null Het
Unc13c T C 9: 73,931,547 (GRCm38) Y674C probably damaging Het
Vangl2 T C 1: 172,007,959 (GRCm38) Y382C probably damaging Het
Vmn2r105 T A 17: 20,227,835 (GRCm38) R242S probably benign Het
Vmn2r12 A G 5: 109,086,532 (GRCm38) Y605H probably benign Het
Vps13a T G 19: 16,759,671 (GRCm38) I101L probably benign Het
Washc4 T A 10: 83,579,521 (GRCm38) F792I probably damaging Het
Wdhd1 G A 14: 47,258,584 (GRCm38) H608Y probably benign Het
Wdr48 T A 9: 119,902,404 (GRCm38) I56K probably damaging Het
Xpo4 T C 14: 57,629,503 (GRCm38) D194G probably benign Het
Zfp644 A G 5: 106,637,244 (GRCm38) M479T possibly damaging Het
Zfp821 T A 8: 109,709,533 (GRCm38) probably null Het
Zswim8 A G 14: 20,719,457 (GRCm38) Y1237C probably 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
R1509:Ccdc18 UTSW 5 108,188,978 (GRCm38) missense possibly damaging 0.89
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
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 PCR Primer
(F):5'- GAAGAAGGTTTGAACAACACTTGC -3'
(R):5'- ACTGGCACTAATAGACCGACGTAG -3'

Sequencing Primer
(F):5'- AATTTCTGAGTTCGAGGCCAGC -3'
(R):5'- CGTAGTTTTCTGCATTTGAAAAGTG -3'
Posted On 2014-11-12