Incidental Mutation 'R4612:Ccdc18'
ID 344810
Institutional Source Beutler Lab
Gene Symbol Ccdc18
Ensembl Gene ENSMUSG00000056531
Gene Name coiled-coil domain containing 18
Synonyms 4932411G06Rik, 1700021E15Rik
MMRRC Submission 041823-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4612 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 108132875-108233628 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 108135441 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 6 (S6L)
Ref Sequence ENSEMBL: ENSMUSP00000142963 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002837] [ENSMUST00000047677] [ENSMUST00000061203] [ENSMUST00000117759] [ENSMUST00000118036] [ENSMUST00000119437] [ENSMUST00000119784] [ENSMUST00000197718]
AlphaFold Q640L5
Predicted Effect probably benign
Transcript: ENSMUST00000002837
SMART Domains Protein: ENSMUSP00000002837
Gene: ENSMUSG00000063406

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EMP24_GP25L 35 222 5e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000047677
AA Change: S6L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000036507
Gene: ENSMUSG00000056531
AA Change: S6L

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: ENSMUST00000061203
SMART Domains Protein: ENSMUSP00000056449
Gene: ENSMUSG00000063406

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:EMP24_GP25L 35 112 4.2e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117759
SMART Domains Protein: ENSMUSP00000112612
Gene: ENSMUSG00000063406

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:EMP24_GP25L 35 100 4.9e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000118036
SMART Domains Protein: ENSMUSP00000113922
Gene: ENSMUSG00000063406

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:EMP24_GP25L 35 99 1.6e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000119437
SMART Domains Protein: ENSMUSP00000112406
Gene: ENSMUSG00000063406

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
EMP24_GP25L 35 160 9.65e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119784
SMART Domains Protein: ENSMUSP00000113422
Gene: ENSMUSG00000063406

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
Pfam:EMP24_GP25L 35 96 2.4e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000197718
AA Change: S6L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000142963
Gene: ENSMUSG00000056531
AA Change: S6L

DomainStartEndE-ValueType
coiled coil region 109 140 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200463
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700019D03Rik T C 1: 52,925,476 (GRCm38) D31G probably benign Het
5730455P16Rik A T 11: 80,377,980 (GRCm38) M1K probably null Het
Abca15 A G 7: 120,335,161 (GRCm38) D120G probably benign Het
Adam26a A T 8: 43,568,793 (GRCm38) N553K probably damaging Het
Adam32 A T 8: 24,872,736 (GRCm38) C558S probably damaging Het
Adam39 A T 8: 40,825,921 (GRCm38) S450C probably damaging Het
Agap2 A T 10: 127,080,096 (GRCm38) T159S unknown Het
Ahnak G A 19: 9,003,724 (GRCm38) V791I probably benign Het
Ak7 T G 12: 105,761,513 (GRCm38) L468R probably damaging Het
Akap12 A G 10: 4,354,456 (GRCm38) D422G probably damaging Het
Antxr1 T A 6: 87,288,173 (GRCm38) I129F probably damaging Het
Arhgap32 G A 9: 32,259,479 (GRCm38) G1185D probably damaging Het
Atf7ip2 A T 16: 10,241,563 (GRCm38) E322D probably benign Het
Atg4b T C 1: 93,786,541 (GRCm38) F349L probably damaging Het
Atp6v1c1 A G 15: 38,677,612 (GRCm38) K127R probably damaging Het
Atxn1l C T 8: 109,732,104 (GRCm38) V509M possibly damaging Het
B3glct T A 5: 149,739,557 (GRCm38) I260N probably damaging Het
Bcl2l12 G A 7: 44,996,585 (GRCm38) P70L probably damaging Het
Bok T A 1: 93,694,178 (GRCm38) F157L probably damaging Het
Bves G A 10: 45,339,277 (GRCm38) G16D probably benign Het
Cacna1b T A 2: 24,626,852 (GRCm38) K65* probably null Het
Casc3 A G 11: 98,822,958 (GRCm38) T339A probably benign Het
Cd86 A G 16: 36,615,330 (GRCm38) Y242H probably benign Het
Chd3 A C 11: 69,353,209 (GRCm38) Y1249* probably null Het
Chrne T C 11: 70,617,022 (GRCm38) T284A probably damaging Het
Col12a1 T C 9: 79,616,057 (GRCm38) D2746G probably damaging Het
Cryaa T A 17: 31,678,474 (GRCm38) M72K probably benign Het
Csmd1 G T 8: 15,921,908 (GRCm38) probably null Het
Det1 A T 7: 78,843,706 (GRCm38) N183K probably damaging Het
Dis3 C A 14: 99,091,435 (GRCm38) V294L probably benign Het
Dnah2 G A 11: 69,483,367 (GRCm38) L1493F possibly damaging Het
Dsc2 A T 18: 20,041,819 (GRCm38) D466E probably damaging Het
Dsg4 T A 18: 20,462,413 (GRCm38) S558T probably benign Het
Dzip3 A T 16: 48,952,040 (GRCm38) L422* probably null Het
Elp6 T C 9: 110,314,019 (GRCm38) F100S probably damaging Het
Epg5 C T 18: 77,982,414 (GRCm38) T1224I possibly damaging Het
F830016B08Rik T A 18: 60,301,015 (GRCm38) I390N probably benign Het
Fam110c A G 12: 31,074,656 (GRCm38) T206A unknown Het
Fam160a1 G A 3: 85,730,372 (GRCm38) R207* probably null Het
Fam187b G A 7: 30,977,093 (GRCm38) G9D possibly damaging Het
Fat1 A G 8: 45,025,147 (GRCm38) D2410G probably damaging Het
Fbln1 T A 15: 85,238,559 (GRCm38) F390Y probably benign Het
Fgg A G 3: 83,010,090 (GRCm38) N142S probably damaging Het
Flcn T C 11: 59,792,687 (GRCm38) T555A probably damaging Het
Foxq1 G T 13: 31,558,825 (GRCm38) probably benign Het
Gm3233 A T 10: 77,759,664 (GRCm38) probably benign Het
Gm5346 A T 8: 43,626,550 (GRCm38) F212L probably benign Het
Gm7271 A T 5: 76,516,498 (GRCm38) N145Y probably damaging Het
Gprc5a G A 6: 135,078,929 (GRCm38) V125I probably damaging Het
Gria2 T C 3: 80,732,051 (GRCm38) D218G probably damaging Het
Gtf3c5 C T 2: 28,579,584 (GRCm38) A103T probably benign Het
Hspg2 A G 4: 137,539,575 (GRCm38) T1964A possibly damaging Het
Hspg2 C T 4: 137,518,940 (GRCm38) R1010C probably damaging Het
Htatip2 G T 7: 49,772,597 (GRCm38) E188* probably null Het
Ifna13 T G 4: 88,643,876 (GRCm38) E170D probably damaging Het
Il4ra A G 7: 125,576,083 (GRCm38) T488A probably benign Het
Jup G T 11: 100,381,834 (GRCm38) H251N probably damaging Het
Kif21a A T 15: 90,968,223 (GRCm38) probably null Het
Klhl28 T A 12: 64,957,260 (GRCm38) I160L probably damaging Het
Klk5 A T 7: 43,845,272 (GRCm38) T60S possibly damaging Het
Kntc1 A G 5: 123,812,643 (GRCm38) R1995G probably damaging Het
Lrig2 A C 3: 104,462,783 (GRCm38) I844M probably damaging Het
Lrp2 C T 2: 69,458,427 (GRCm38) W3698* probably null Het
Lyar T A 5: 38,224,709 (GRCm38) S12T possibly damaging Het
Map3k19 T C 1: 127,815,300 (GRCm38) K1507E probably benign Het
Mre11a G A 9: 14,802,903 (GRCm38) G267R probably damaging Het
Mthfd1l A G 10: 4,030,717 (GRCm38) Q473R probably damaging Het
Ncald T A 15: 37,397,349 (GRCm38) E29V probably benign Het
Neb T C 2: 52,287,243 (GRCm38) D1362G probably damaging Het
Nme2 T C 11: 93,955,602 (GRCm38) T7A possibly damaging Het
Nod2 T A 8: 88,665,036 (GRCm38) L657Q possibly damaging Het
Nrm T A 17: 35,863,529 (GRCm38) V75E probably benign Het
Ogfod1 A C 8: 94,037,347 (GRCm38) K20T possibly damaging Het
Olfr197 T C 16: 59,186,311 (GRCm38) I57M probably damaging Het
Olfr294 T A 7: 86,615,736 (GRCm38) Q303L probably benign Het
Olfr63 T A 17: 33,269,480 (GRCm38) V252E probably benign Het
Omp T C 7: 98,145,141 (GRCm38) N93S probably damaging Het
Pcdhb15 A C 18: 37,475,595 (GRCm38) T627P probably damaging Het
Pld1 A G 3: 28,131,733 (GRCm38) T1036A possibly damaging Het
Pogk C A 1: 166,398,765 (GRCm38) E606* probably null Het
Ppp1r10 T A 17: 35,927,931 (GRCm38) L292Q probably damaging Het
Prpf6 T C 2: 181,632,079 (GRCm38) C339R possibly damaging Het
Psd T A 19: 46,313,339 (GRCm38) D937V probably benign Het
Rbak T C 5: 143,174,467 (GRCm38) Q277R probably benign Het
Sbno1 T A 5: 124,404,024 (GRCm38) Y355F probably damaging Het
Sec23ip C T 7: 128,750,502 (GRCm38) Q201* probably null Het
Serpinb3a T C 1: 107,047,607 (GRCm38) K157E probably damaging Het
Slc22a28 A T 19: 8,101,406 (GRCm38) N306K probably damaging Het
Smarca2 C A 19: 26,776,225 (GRCm38) D1584E possibly damaging Het
Snx29 C A 16: 11,447,495 (GRCm38) Q530K probably damaging Het
Stard10 C A 7: 101,345,670 (GRCm38) Q278K possibly damaging Het
Tgm2 C T 2: 158,124,204 (GRCm38) C510Y probably benign Het
Tlr9 C T 9: 106,223,807 (GRCm38) P99L probably damaging Het
Tmco4 T C 4: 138,990,560 (GRCm38) W4R probably benign Het
Tmem151a T A 19: 5,071,834 (GRCm38) probably benign Het
Tmem255b T C 8: 13,454,228 (GRCm38) V140A probably benign Het
Trbj1-2 C T 6: 41,534,016 (GRCm38) probably benign Het
Trpm2 T C 10: 77,945,916 (GRCm38) T290A probably damaging Het
Tsc22d1 G A 14: 76,419,005 (GRCm38) E120K possibly damaging Het
Ttc29 A G 8: 78,325,546 (GRCm38) D352G probably benign Het
Usp25 A T 16: 77,033,945 (GRCm38) I30F possibly damaging Het
Usp34 A C 11: 23,432,268 (GRCm38) N1993T probably damaging Het
Vmn2r124 A C 17: 18,063,022 (GRCm38) H326P probably benign Het
Vmn2r92 C A 17: 18,166,870 (GRCm38) T157K probably benign Het
Vstm5 A T 9: 15,257,493 (GRCm38) I118F probably benign Het
Vwa7 T C 17: 35,023,450 (GRCm38) V510A probably damaging Het
Zfhx4 G A 3: 5,397,063 (GRCm38) S1266N probably damaging Het
Zfp763 T A 17: 33,018,948 (GRCm38) N408Y probably benign Het
Zswim5 C T 4: 116,986,704 (GRCm38) H980Y 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
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'- CCTGATCTGTTGGTCCTGAG -3'
(R):5'- CAATTATGTCTTAGTCCCGGGAC -3'

Sequencing Primer
(F):5'- AGGAGCACCCTCGGTTCTC -3'
(R):5'- TGTCTTAGTCCCGGGACATACTAAAC -3'
Posted On 2015-09-25