Incidental Mutation 'R7117:Ccdc18'
ID 551838
Institutional Source Beutler Lab
Gene Symbol Ccdc18
Ensembl Gene ENSMUSG00000056531
Gene Name coiled-coil domain containing 18
Synonyms 4932411G06Rik, 1700021E15Rik
MMRRC Submission 045208-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7117 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 108132875-108233628 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to G at 108148969 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Leucine to Valine at position 213 (L213V)
Ref Sequence ENSEMBL: ENSMUSP00000036507 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047677] [ENSMUST00000197718]
AlphaFold Q640L5
Predicted Effect possibly damaging
Transcript: ENSMUST00000047677
AA Change: L213V

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: L213V

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
Predicted Effect probably benign
Transcript: ENSMUST00000197718
SMART Domains Protein: ENSMUSP00000142963
Gene: ENSMUSG00000056531

DomainStartEndE-ValueType
coiled coil region 109 140 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 97% (95/98)
Allele List at MGI
Other mutations in this stock
Total: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,191,384 (GRCm38) Y254C probably benign Het
4930480E11Rik G T X: 78,370,705 (GRCm38) M345I probably benign Het
9330182L06Rik T A 5: 9,445,384 (GRCm38) C729* probably null Het
Adam12 T C 7: 133,916,462 (GRCm38) I650V probably benign Het
Adam39 G T 8: 40,826,242 (GRCm38) G557C probably damaging Het
Ak5 A G 3: 152,615,856 (GRCm38) probably null Het
Arhgef10l C T 4: 140,564,186 (GRCm38) probably null Het
Arhgef37 C T 18: 61,504,410 (GRCm38) E394K probably benign Het
Baz2b A G 2: 59,912,497 (GRCm38) V13A Het
Bnc1 G T 7: 81,973,361 (GRCm38) A706E possibly damaging Het
Bscl2 G A 19: 8,848,514 (GRCm38) A421T possibly damaging Het
Btn1a1 A C 13: 23,459,245 (GRCm38) W345G possibly damaging Het
C3 A T 17: 57,212,655 (GRCm38) M1199K probably benign Het
C87499 T A 4: 88,628,958 (GRCm38) M246L probably damaging Het
Cers2 T C 3: 95,320,761 (GRCm38) probably null Het
Chpt1 T A 10: 88,480,849 (GRCm38) H249L probably damaging Het
Cited2 A G 10: 17,724,616 (GRCm38) E224G possibly damaging Het
Cntn5 T A 9: 10,904,699 (GRCm38) probably benign Het
Col28a1 A G 6: 8,013,122 (GRCm38) S977P possibly damaging Het
Col6a1 T C 10: 76,725,009 (GRCm38) K52E probably damaging Het
Cpne2 T A 8: 94,555,544 (GRCm38) H239Q probably damaging Het
Cr2 A T 1: 195,160,601 (GRCm38) N244K possibly damaging Het
Csf2rb2 T C 15: 78,285,185 (GRCm38) D590G probably damaging Het
Defb25 A C 2: 152,622,460 (GRCm38) C55G probably damaging Het
Dnah7b A T 1: 46,352,813 (GRCm38) probably null Het
Dvl3 T A 16: 20,527,322 (GRCm38) Y467* probably null Het
Extl2 T C 3: 116,027,439 (GRCm38) S312P probably damaging Het
Fam178b T C 1: 36,600,467 (GRCm38) T313A probably benign Het
Fam186b A G 15: 99,285,590 (GRCm38) Y58H probably damaging Het
Fat1 A T 8: 45,031,468 (GRCm38) I3248L probably damaging Het
Fat2 A G 11: 55,281,262 (GRCm38) F2875S probably damaging Het
Flnb T A 14: 7,894,214 (GRCm38) N760K probably benign Het
Galnt14 T C 17: 73,494,195 (GRCm38) H544R probably benign Het
Gpr137c A C 14: 45,279,027 (GRCm38) R357S probably damaging Het
Grk2 A G 19: 4,290,602 (GRCm38) probably null Het
Hectd2 A T 19: 36,599,655 (GRCm38) T342S probably benign Het
Hfe2 G T 3: 96,528,226 (GRCm38) V267L possibly damaging Het
Ildr2 G T 1: 166,295,811 (GRCm38) G270C probably damaging Het
Insm2 C A 12: 55,600,572 (GRCm38) A367D probably damaging Het
Kcnh5 T A 12: 75,114,445 (GRCm38) I230F possibly damaging Het
Keg1 T A 19: 12,709,678 (GRCm38) S24T probably damaging Het
Kera A T 10: 97,612,852 (GRCm38) E311D probably benign Het
Kit T A 5: 75,607,098 (GRCm38) I47K probably benign Het
Megf6 A G 4: 154,258,922 (GRCm38) T663A possibly damaging Het
Mettl21c G A 1: 44,010,648 (GRCm38) A79V probably damaging Het
Mfsd1 T A 3: 67,600,058 (GRCm38) probably null Het
Mob3b A G 4: 34,985,914 (GRCm38) probably null Het
Morc2b T A 17: 33,137,952 (GRCm38) H282L probably benign Het
Mtpap T C 18: 4,380,889 (GRCm38) probably null Het
Mtus1 A G 8: 41,083,584 (GRCm38) V365A possibly damaging Het
Muc5ac T A 7: 141,813,822 (GRCm38) Y2993* probably null Het
Mycbp2 A C 14: 103,154,077 (GRCm38) F3422V probably benign Het
Ndufb7 T A 8: 83,570,861 (GRCm38) D48E probably benign Het
Nxpe5 A G 5: 138,239,442 (GRCm38) Y88C probably damaging Het
Olfr1177-ps A G 2: 88,344,561 (GRCm38) L64P probably damaging Het
Olfr575 T A 7: 102,954,978 (GRCm38) M208L probably benign Het
Osbpl5 T A 7: 143,709,783 (GRCm38) D121V probably benign Het
Oxnad1 A T 14: 32,091,651 (GRCm38) H3L probably benign Het
Pam C A 1: 97,977,116 (GRCm38) probably benign Het
Papolg T C 11: 23,895,207 (GRCm38) probably benign Het
Pax1 G A 2: 147,366,270 (GRCm38) G266D probably damaging Het
Pde11a A T 2: 76,076,004 (GRCm38) M623K probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,709,168 (GRCm38) probably benign Het
Phf21a A T 2: 92,359,157 (GRCm38) Q587L probably benign Het
Plcb3 A G 19: 6,964,378 (GRCm38) L336P probably damaging Het
Pnp2 T C 14: 50,964,474 (GRCm38) *306Q probably null Het
Pou5f2 A G 13: 78,025,273 (GRCm38) I111M probably benign Het
Prmt3 G T 7: 49,818,095 (GRCm38) A350S probably benign Het
Rac3 A T 11: 120,723,517 (GRCm38) R163* probably null Het
Raly G T 2: 154,857,512 (GRCm38) V79L probably benign Het
Rbm20 A T 19: 53,851,558 (GRCm38) T993S possibly damaging Het
Rwdd3 A G 3: 121,171,338 (GRCm38) L56P probably benign Het
Serpina3a C T 12: 104,116,177 (GRCm38) H70Y possibly damaging Het
Sez6l2 A C 7: 126,953,743 (GRCm38) E227A possibly damaging Het
Shank1 C T 7: 44,327,161 (GRCm38) A561V unknown Het
Sidt2 C T 9: 45,953,219 (GRCm38) V71I probably benign Het
Slc35f6 T C 5: 30,657,707 (GRCm38) L326P probably damaging Het
Sox2 G A 3: 34,650,926 (GRCm38) G171S possibly damaging Het
Spef2 G A 15: 9,729,838 (GRCm38) R65C probably damaging Het
Stip1 C T 19: 7,021,810 (GRCm38) G467S possibly damaging Het
Tada2a T A 11: 84,085,688 (GRCm38) I327F probably damaging Het
Tex2 A G 11: 106,544,245 (GRCm38) V785A unknown Het
Thada C A 17: 84,230,786 (GRCm38) probably null Het
Theg A T 10: 79,584,907 (GRCm38) probably null Het
Tmed1 G A 9: 21,509,254 (GRCm38) T94M possibly damaging Het
Tsr1 G T 11: 74,899,534 (GRCm38) M149I probably benign Het
Ttc8 T C 12: 98,976,502 (GRCm38) Y434H possibly damaging Het
Ttn A G 2: 76,942,891 (GRCm38) I2435T unknown Het
Ttn G T 2: 76,721,909 (GRCm38) probably null Het
Ttn A G 2: 76,748,175 (GRCm38) Y24125H probably damaging Het
Uggt2 T C 14: 119,014,526 (GRCm38) I1174M probably benign Het
Unc13b T C 4: 43,216,544 (GRCm38) I281T probably benign Het
Usp1 G T 4: 98,928,890 (GRCm38) K106N possibly damaging Het
Vwa3b A G 1: 37,135,553 (GRCm38) D15G Het
Zfp28 G A 7: 6,394,462 (GRCm38) C632Y probably damaging Het
Zfp68 T C 5: 138,606,318 (GRCm38) D581G probably benign Het
Zmynd10 A C 9: 107,547,517 (GRCm38) S21R probably benign Het
Zswim4 C T 8: 84,214,052 (GRCm38) R806H 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
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
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'- GAGTTATGAATATGCCTTTCTCTCTT -3'
(R):5'- TCCTGGGCTATTTCTTGTATTCATA -3'

Sequencing Primer
(F):5'- GTTTGTCTTAACTCACTGATT -3'
(R):5'- CATGGGCTTCCCTGTGAGTAC -3'
Posted On 2019-05-15