Incidental Mutation 'R1547:Ccdc183'
ID172235
Institutional Source Beutler Lab
Gene Symbol Ccdc183
Ensembl Gene ENSMUSG00000026940
Gene Namecoiled-coil domain containing 183
SynonymsCccd183, 4921530D09Rik
MMRRC Submission 039586-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #R1547 (G1)
Quality Score225
Status Not validated
Chromosome2
Chromosomal Location25608635-25617678 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 25609350 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 466 (T466S)
Ref Sequence ENSEMBL: ENSMUSP00000028309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028309] [ENSMUST00000058137]
Predicted Effect probably benign
Transcript: ENSMUST00000028309
AA Change: T466S

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000028309
Gene: ENSMUSG00000026940
AA Change: T466S

DomainStartEndE-ValueType
coiled coil region 118 147 N/A INTRINSIC
low complexity region 171 183 N/A INTRINSIC
coiled coil region 321 406 N/A INTRINSIC
low complexity region 524 534 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000058137
SMART Domains Protein: ENSMUSP00000058746
Gene: ENSMUSG00000015087

DomainStartEndE-ValueType
Pfam:Ras 45 108 1.5e-7 PFAM
Pfam:Roc 45 112 2.2e-8 PFAM
low complexity region 232 245 N/A INTRINSIC
low complexity region 291 325 N/A INTRINSIC
low complexity region 343 364 N/A INTRINSIC
low complexity region 378 397 N/A INTRINSIC
low complexity region 480 492 N/A INTRINSIC
coiled coil region 653 669 N/A INTRINSIC
low complexity region 708 720 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129520
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140635
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140785
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146012
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155684
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 89.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700080E11Rik A T 9: 105,144,690 F52L probably damaging Het
3632451O06Rik A T 14: 49,773,496 D251E probably benign Het
Adam17 A C 12: 21,353,957 V96G probably damaging Het
Adam5 G T 8: 24,810,713 Q267K probably benign Het
Adamts6 A G 13: 104,444,875 T833A probably benign Het
Ago4 C T 4: 126,511,413 E456K probably benign Het
Anapc1 T C 2: 128,617,556 Q1861R probably benign Het
Apob A T 12: 8,003,368 D1270V probably benign Het
Arhgef11 T A 3: 87,695,402 I196N possibly damaging Het
Capzb G A 4: 139,262,098 probably null Het
Cd101 T C 3: 101,018,951 T151A possibly damaging Het
Cdc42bpa A T 1: 180,074,644 I489F probably damaging Het
Cetn4 T C 3: 37,309,451 K52R possibly damaging Het
Dock6 C T 9: 21,814,588 E1440K probably damaging Het
Edem2 A G 2: 155,722,516 F94L probably damaging Het
Etl4 T C 2: 20,785,228 S881P probably damaging Het
Fam172a T C 13: 77,825,390 probably null Het
Fam189a2 T C 19: 23,979,701 D315G probably damaging Het
Fat2 G A 11: 55,252,255 P4256L probably benign Het
Fmnl2 A G 2: 53,105,537 E424G probably damaging Het
Ikbkap C A 4: 56,792,090 R226L probably damaging Het
Ikbkap C T 4: 56,798,810 V51M probably damaging Het
Kif19a A G 11: 114,786,572 E594G probably benign Het
Kifap3 A G 1: 163,794,086 D101G probably benign Het
Klhl6 T C 16: 19,966,082 D102G probably benign Het
Klra3 G C 6: 130,333,144 R138G probably benign Het
Lamb2 A G 9: 108,482,625 H388R probably benign Het
Lmna T C 3: 88,482,351 S656G probably benign Het
Map3k12 T A 15: 102,503,852 I285F probably damaging Het
Map3k7 A G 4: 31,991,796 I345V probably benign Het
Mcph1 A G 8: 18,622,686 R111G possibly damaging Het
Mfsd6l T A 11: 68,556,608 V95D probably damaging Het
Mogs T A 6: 83,116,025 M118K possibly damaging Het
Npy5r T C 8: 66,681,034 E369G possibly damaging Het
Olfr218 T A 1: 173,203,672 Y105* probably null Het
Olfr331 A G 11: 58,501,825 S244P probably damaging Het
Olfr875 A C 9: 37,772,664 T2P probably benign Het
Pde7b C A 10: 20,434,594 L207F probably damaging Het
Pigo A G 4: 43,020,689 V751A probably benign Het
Polr2a T C 11: 69,734,555 Y1923C probably benign Het
Prokr2 T C 2: 132,373,602 Y152C probably damaging Het
Rab40c A G 17: 25,883,750 S223P probably damaging Het
Recql4 A C 15: 76,706,311 C658G probably damaging Het
Sgca T C 11: 94,969,433 T46A probably damaging Het
Slc39a4 G T 15: 76,614,147 C363* probably null Het
Snap25 A T 2: 136,777,469 I181F possibly damaging Het
Snx32 T A 19: 5,497,311 Q256L possibly damaging Het
Soat1 A G 1: 156,439,761 V284A probably damaging Het
Sox6 G A 7: 115,701,722 T170M possibly damaging Het
Spag16 G T 1: 69,873,243 V246F possibly damaging Het
St6galnac6 T C 2: 32,614,965 V141A possibly damaging Het
Sult2a7 T A 7: 14,477,122 probably null Het
Syngr3 A T 17: 24,687,724 V39E probably damaging Het
Tango6 A G 8: 106,781,786 T917A probably damaging Het
Tas1r1 A G 4: 152,028,419 S726P probably damaging Het
Zeb1 C T 18: 5,767,450 R654C possibly damaging Het
Other mutations in Ccdc183
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00858:Ccdc183 APN 2 25609771 missense probably benign 0.01
IGL02177:Ccdc183 APN 2 25612083 missense probably benign 0.03
R1354:Ccdc183 UTSW 2 25612139 missense probably benign 0.33
R5084:Ccdc183 UTSW 2 25608790 missense probably damaging 0.97
R5579:Ccdc183 UTSW 2 25615422 missense possibly damaging 0.92
R6188:Ccdc183 UTSW 2 25609752 missense probably benign 0.28
R6224:Ccdc183 UTSW 2 25610582 missense possibly damaging 0.55
R6372:Ccdc183 UTSW 2 25616164 missense probably benign 0.21
R6994:Ccdc183 UTSW 2 25617045 missense probably benign 0.00
R7041:Ccdc183 UTSW 2 25613670 missense probably benign 0.00
R7132:Ccdc183 UTSW 2 25616530 critical splice donor site probably null
R7177:Ccdc183 UTSW 2 25616284 missense probably damaging 1.00
R7432:Ccdc183 UTSW 2 25609457 missense probably benign
R7561:Ccdc183 UTSW 2 25611517 missense probably benign 0.00
R8283:Ccdc183 UTSW 2 25612148 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TAAAACCTTTCCCTTCAGCGCCCAG -3'
(R):5'- TCATCGGCATCACCTTGCCAAC -3'

Sequencing Primer
(F):5'- TTCAGCGCCCAGTCACC -3'
(R):5'- AGCAGTCTCTAACACTCTTGATGTG -3'
Posted On2014-04-13