Incidental Mutation 'R8283:Ccdc183'
ID638289
Institutional Source Beutler Lab
Gene Symbol Ccdc183
Ensembl Gene ENSMUSG00000026940
Gene Namecoiled-coil domain containing 183
SynonymsCccd183, 4921530D09Rik
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #R8283 (G1)
Quality Score225.009
Status Not validated
Chromosome2
Chromosomal Location25608635-25617678 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 25612148 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 238 (A238V)
Ref Sequence ENSEMBL: ENSMUSP00000028309 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028309] [ENSMUST00000058137]
Predicted Effect probably damaging
Transcript: ENSMUST00000028309
AA Change: A238V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028309
Gene: ENSMUSG00000026940
AA Change: A238V

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b C T 5: 8,806,086 P65S probably damaging Het
Adcy3 A T 12: 4,200,935 R565W probably damaging Het
Arl14 A T 3: 69,222,535 N5I probably benign Het
Arl6ip6 A G 2: 53,192,238 E39G possibly damaging Het
Aven C T 2: 112,559,775 R8W probably benign Het
Axl C T 7: 25,763,954 D633N probably benign Het
Boc A T 16: 44,520,437 L50Q noncoding transcript Het
Calml3 A G 13: 3,804,097 V36A probably damaging Het
Ccndbp1 A G 2: 121,008,584 probably benign Het
Ccr9 A G 9: 123,779,631 Y126C probably damaging Het
Cdhr1 T C 14: 37,082,780 N491S probably benign Het
Celsr2 C T 3: 108,396,455 G2429D probably damaging Het
Cts6 T C 13: 61,201,643 T84A probably damaging Het
Dcpp2 T C 17: 23,899,410 probably null Het
Drosha A G 15: 12,890,501 I945V possibly damaging Het
Dsg1b A G 18: 20,391,906 Q133R probably benign Het
Enpp1 T A 10: 24,674,656 E174D probably benign Het
Esrrb A G 12: 86,421,958 H15R probably benign Het
Fbxl12 T C 9: 20,638,721 T213A probably benign Het
Fnbp4 C A 2: 90,746,771 T149K probably damaging Het
Foxj1 A T 11: 116,334,067 F158Y probably benign Het
Frrs1 A G 3: 116,878,303 T17A probably benign Het
Gm10110 C T 14: 89,898,241 V76M noncoding transcript Het
Hnrnpl T C 7: 28,814,272 V220A Het
Iars2 T A 1: 185,288,091 R949* probably null Het
Ice1 T C 13: 70,604,430 E1179G probably damaging Het
Mast4 A G 13: 102,758,669 L782P probably damaging Het
Mcmdc2 A C 1: 9,934,038 K581T possibly damaging Het
Men1 A T 19: 6,336,818 D186V probably damaging Het
Morc2b T G 17: 33,136,701 N699T probably benign Het
Mrgpra2b A G 7: 47,464,717 L89P probably damaging Het
Naip1 C T 13: 100,427,187 G490E probably damaging Het
Ntm T C 9: 29,012,212 Y224C probably damaging Het
Nup88 A T 11: 70,958,340 D262E probably benign Het
Olfr1113 T C 2: 87,213,339 V149A probably benign Het
Olfr630 T A 7: 103,754,812 I258L possibly damaging Het
Olfr921 G A 9: 38,775,281 V9M noncoding transcript Het
Oscp1 A G 4: 126,086,600 M293V probably benign Het
Pcdhgc3 C A 18: 37,807,641 A365D probably damaging Het
Pcyt2 A T 11: 120,610,722 F388I probably benign Het
Pgm2l1 C G 7: 100,253,253 A136G probably benign Het
Phf14 T G 6: 11,987,637 D638E probably benign Het
Pnpla7 A G 2: 25,050,923 K1096E probably damaging Het
Prkcb T A 7: 122,600,725 C586* probably null Het
Rnf187 T A 11: 58,938,415 R124W probably damaging Het
RP24-77E13.10 T C 7: 7,241,902 Y11C possibly damaging Het
Sema3a T C 5: 13,400,063 Y36H probably damaging Het
Setd7 T G 3: 51,521,375 S345R probably benign Het
Sgms1 T C 19: 32,159,635 D177G probably damaging Het
Snx19 T C 9: 30,463,226 L927S possibly damaging Het
Sorbs1 G C 19: 40,376,800 R180G probably benign Het
Sorl1 T C 9: 42,030,998 D977G probably damaging Het
Sptan1 C T 2: 29,980,200 R121W probably damaging Het
Srgap2 T C 1: 131,364,033 D152G probably damaging Het
Suclg2 T A 6: 95,497,719 probably null Het
Tacc2 T C 7: 130,625,304 S1240P probably benign Het
Tbc1d12 C T 19: 38,836,909 A68V probably benign Het
Tex14 G A 11: 87,474,415 D62N probably damaging Het
Thyn1 C T 9: 27,006,859 T181I probably benign Het
Trio T A 15: 27,756,542 H2056L possibly damaging Het
Ubn2 T A 6: 38,498,728 L1207Q probably damaging Het
Usp17lb T C 7: 104,840,806 S305G probably damaging Het
Vmn2r101 T A 17: 19,611,991 Y750N probably damaging Het
Wif1 G A 10: 121,096,047 S292N probably benign Het
Xpo6 T G 7: 126,128,249 Q528H 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
R1547:Ccdc183 UTSW 2 25609350 missense probably benign 0.05
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
Predicted Primers PCR Primer
(F):5'- AAGAGCTGAGACTCACCCTTTAC -3'
(R):5'- AGAATGGCCAGCTTTCTTCC -3'

Sequencing Primer
(F):5'- TCCATAGTCATCAGATTGGAGGG -3'
(R):5'- TCTTCCACAGTCCACTGATATGAAG -3'
Posted On2020-07-28