Incidental Mutation 'R1481:Coil'
ID 164390
Institutional Source Beutler Lab
Gene Symbol Coil
Ensembl Gene ENSMUSG00000033983
Gene Name coilin
Synonyms Cln80, p80-coilin
MMRRC Submission 039534-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R1481 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 88970252-88991613 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88974060 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 38 (C38S)
Ref Sequence ENSEMBL: ENSMUSP00000103530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036649] [ENSMUST00000107898]
AlphaFold Q5SU73
Predicted Effect possibly damaging
Transcript: ENSMUST00000036649
AA Change: C38S

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000047588
Gene: ENSMUSG00000033983
AA Change: C38S

low complexity region 54 70 N/A INTRINSIC
low complexity region 161 167 N/A INTRINSIC
low complexity region 174 195 N/A INTRINSIC
low complexity region 300 322 N/A INTRINSIC
low complexity region 401 417 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000107898
AA Change: C38S

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000103530
Gene: ENSMUSG00000033983
AA Change: C38S

Pfam:Coilin_N 10 220 8.7e-35 PFAM
low complexity region 303 325 N/A INTRINSIC
low complexity region 404 420 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122062
Meta Mutation Damage Score 0.4538 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (71/71)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral component of Cajal bodies (also called coiled bodies). Cajal bodies are nuclear suborganelles of varying number and composition that are involved in the post-transcriptional modification of small nuclear and small nucleolar RNAs. The N-terminus of the coilin protein directs its self-oligomerization while the C-terminus influences the number of nuclear bodies assembled per cell. Differential methylation and phosphorylation of coilin likely influences its localization among nuclear bodies and the composition and assembly of Cajal bodies. This gene has pseudogenes on chromosome 4 and chromosome 14. [provided by RefSeq, Jul 2008]
PHENOTYPE: Animals homozygous for a mutation in this gene show reduced viability on inbred backgrounds. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,008,434 (GRCm38) V3365A probably damaging Het
Arhgef5 A G 6: 43,274,634 (GRCm38) H773R probably damaging Het
Bmp3 G A 5: 98,872,470 (GRCm38) V251M probably damaging Het
Ccdc175 C A 12: 72,101,948 (GRCm38) probably benign Het
Ccdc178 C T 18: 22,105,621 (GRCm38) G313D probably benign Het
Cd300ld2 T A 11: 115,012,633 (GRCm38) I129F probably benign Het
Cep170 T C 1: 176,782,385 (GRCm38) Q120R possibly damaging Het
Ckb T C 12: 111,671,262 (GRCm38) H145R probably benign Het
Cntnap5a T A 1: 116,117,663 (GRCm38) N336K probably damaging Het
Cps1 T C 1: 67,143,882 (GRCm38) V133A probably damaging Het
Cspg4 A G 9: 56,887,810 (GRCm38) E943G probably damaging Het
Cyp2c54 C T 19: 40,047,588 (GRCm38) D293N probably benign Het
Cyp2f2 T C 7: 27,121,877 (GRCm38) S72P probably benign Het
Dip2c G A 13: 9,551,866 (GRCm38) probably null Het
Dock6 T C 9: 21,820,622 (GRCm38) T1158A probably benign Het
Dscaml1 G A 9: 45,672,643 (GRCm38) V469I probably benign Het
Efcab14 A G 4: 115,756,517 (GRCm38) T221A probably benign Het
Ehbp1 T C 11: 22,006,782 (GRCm38) *1207W probably null Het
Eln T C 5: 134,706,572 (GRCm38) K786E probably damaging Het
Fyb C T 15: 6,619,647 (GRCm38) P385S probably benign Het
Galr1 A G 18: 82,405,741 (GRCm38) I137T possibly damaging Het
Gcm1 A T 9: 78,059,717 (GRCm38) K73* probably null Het
Gemin5 T C 11: 58,141,654 (GRCm38) N775D probably damaging Het
Gli3 C T 13: 15,613,850 (GRCm38) H147Y probably damaging Het
Gm10754 G T 10: 97,682,227 (GRCm38) probably benign Het
Gpr37 T C 6: 25,669,138 (GRCm38) D569G probably damaging Het
Grina T A 15: 76,249,089 (GRCm38) Y286N probably damaging Het
Gtf3c1 C A 7: 125,693,138 (GRCm38) probably null Het
Kcnc4 C T 3: 107,448,218 (GRCm38) V305M probably benign Het
Kntc1 T C 5: 123,778,275 (GRCm38) F724L probably benign Het
Kpnb1 T C 11: 97,178,310 (GRCm38) Y249C probably damaging Het
Krt6b T C 15: 101,678,374 (GRCm38) T269A probably benign Het
Lamc1 T C 1: 153,221,634 (GRCm38) K1555E probably damaging Het
Maneal T C 4: 124,861,857 (GRCm38) Y104C probably damaging Het
Map1b T C 13: 99,431,171 (GRCm38) T1681A unknown Het
Mettl17 T C 14: 51,890,703 (GRCm38) L272P probably benign Het
Mib2 T A 4: 155,656,999 (GRCm38) S357C probably benign Het
Mmp19 C A 10: 128,798,178 (GRCm38) T316K possibly damaging Het
Mroh9 C T 1: 163,026,509 (GRCm38) G774E probably damaging Het
Myh1 T C 11: 67,205,499 (GRCm38) probably benign Het
Ncor2 C A 5: 125,027,138 (GRCm38) E963* probably null Het
Nol6 T A 4: 41,123,596 (GRCm38) T51S probably benign Het
Nsun3 A T 16: 62,735,369 (GRCm38) C265S probably damaging Het
Nup214 C T 2: 32,034,466 (GRCm38) S1669F probably damaging Het
Nutm2 T A 13: 50,469,481 (GRCm38) N71K probably damaging Het
Olfr498 C T 7: 108,465,960 (GRCm38) T212I probably benign Het
Olfr713 T G 7: 107,036,149 (GRCm38) L5R probably benign Het
Orc3 T A 4: 34,607,228 (GRCm38) E34V possibly damaging Het
Pcdhb13 T A 18: 37,442,836 (GRCm38) L89Q probably damaging Het
Polr3a A T 14: 24,452,548 (GRCm38) V1241E probably null Het
Prpf39 C T 12: 65,053,314 (GRCm38) P135S probably damaging Het
Psrc1 T C 3: 108,384,993 (GRCm38) V34A probably benign Het
Rab27a G A 9: 73,082,402 (GRCm38) V52M probably benign Het
Rassf9 A G 10: 102,546,034 (GRCm38) T424A probably benign Het
Ripor3 G T 2: 168,000,377 (GRCm38) R61S possibly damaging Het
Ryr3 C T 2: 112,636,522 (GRCm38) probably benign Het
Samd4b C T 7: 28,414,010 (GRCm38) G177R probably damaging Het
Setbp1 C T 18: 78,783,301 (GRCm38) V1366M probably benign Het
Smad1 G A 8: 79,343,730 (GRCm38) A393V probably benign Het
Tctn2 T C 5: 124,607,763 (GRCm38) noncoding transcript Het
Tmem45a A T 16: 56,811,602 (GRCm38) F218I possibly damaging Het
Tpte A T 8: 22,355,471 (GRCm38) R512S probably damaging Het
Trim37 T A 11: 87,129,759 (GRCm38) L22* probably null Het
Ttc6 A G 12: 57,737,130 (GRCm38) N1792D probably damaging Het
Ttn A G 2: 76,945,616 (GRCm38) M1694T probably damaging Het
Vmn1r181 T A 7: 23,984,712 (GRCm38) W201R probably damaging Het
Wdr74 C T 19: 8,738,228 (GRCm38) L198F possibly damaging Het
Zfp560 T C 9: 20,348,790 (GRCm38) T259A probably benign Het
Other mutations in Coil
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02238:Coil APN 11 88,981,754 (GRCm38) missense probably benign 0.02
PIT4519001:Coil UTSW 11 88,972,726 (GRCm38) start gained probably benign
PIT4520001:Coil UTSW 11 88,981,611 (GRCm38) missense probably benign 0.01
R0122:Coil UTSW 11 88,985,007 (GRCm38) splice site probably benign
R0211:Coil UTSW 11 88,982,153 (GRCm38) missense probably damaging 1.00
R0288:Coil UTSW 11 88,981,868 (GRCm38) missense probably damaging 1.00
R0396:Coil UTSW 11 88,981,623 (GRCm38) missense probably benign
R0416:Coil UTSW 11 88,981,986 (GRCm38) missense possibly damaging 0.55
R1251:Coil UTSW 11 88,982,299 (GRCm38) missense possibly damaging 0.93
R1705:Coil UTSW 11 88,974,136 (GRCm38) missense probably damaging 1.00
R1728:Coil UTSW 11 88,973,976 (GRCm38) missense probably damaging 0.98
R1824:Coil UTSW 11 88,982,097 (GRCm38) missense possibly damaging 0.91
R2989:Coil UTSW 11 88,987,979 (GRCm38) missense probably damaging 1.00
R3819:Coil UTSW 11 88,981,793 (GRCm38) missense probably benign 0.07
R5217:Coil UTSW 11 88,981,161 (GRCm38) missense possibly damaging 0.94
R6997:Coil UTSW 11 88,981,847 (GRCm38) missense probably benign
R7050:Coil UTSW 11 88,981,188 (GRCm38) missense possibly damaging 0.87
R8504:Coil UTSW 11 88,981,154 (GRCm38) nonsense probably null
R9564:Coil UTSW 11 88,981,800 (GRCm38) missense possibly damaging 0.52
RF007:Coil UTSW 11 88,981,830 (GRCm38) small deletion probably benign
Z1176:Coil UTSW 11 88,981,976 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-03-28