Incidental Mutation 'IGL02238:Coil'
ID 285957
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Coil
Ensembl Gene ENSMUSG00000033983
Gene Name coilin
Synonyms Cln80, p80-coilin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # IGL02238
Quality Score
Status
Chromosome 11
Chromosomal Location 88864761-88882439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88872580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 314 (S314P)
Ref Sequence ENSEMBL: ENSMUSP00000103530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036649] [ENSMUST00000107898]
AlphaFold Q5SU73
Predicted Effect probably benign
Transcript: ENSMUST00000036649
AA Change: S314P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000047588
Gene: ENSMUSG00000033983
AA Change: S314P

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000107898
AA Change: S314P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000103530
Gene: ENSMUSG00000033983
AA Change: S314P

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T A 7: 119,995,829 (GRCm39) I1322N probably benign Het
Adamts1 A T 16: 85,592,713 (GRCm39) M565K probably benign Het
Akr1b7 T A 6: 34,392,333 (GRCm39) Y49N probably damaging Het
Cacna2d2 T A 9: 107,390,757 (GRCm39) V363E probably damaging Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh10 C T 15: 19,013,605 (GRCm39) T735I probably damaging Het
Cds1 T A 5: 101,962,302 (GRCm39) C306S possibly damaging Het
Cfap251 T C 5: 123,440,486 (GRCm39) Y1091H probably damaging Het
Clasp2 T C 9: 113,709,088 (GRCm39) C644R probably damaging Het
D630045J12Rik T A 6: 38,173,329 (GRCm39) M280L probably benign Het
Dmxl2 C T 9: 54,352,717 (GRCm39) V795M probably damaging Het
Dock10 A G 1: 80,511,510 (GRCm39) V1533A probably damaging Het
Fbxo40 T C 16: 36,789,536 (GRCm39) N525D possibly damaging Het
Fezf2 T C 14: 12,344,494 (GRCm38) E231G probably damaging Het
Fmn1 T C 2: 113,412,470 (GRCm39) V870A possibly damaging Het
Ifi44 A G 3: 151,438,019 (GRCm39) *423Q probably null Het
Invs T C 4: 48,390,029 (GRCm39) V173A probably damaging Het
Krt88 A G 15: 101,350,486 (GRCm39) probably benign Het
Mctp2 A T 7: 71,739,953 (GRCm39) Y812* probably null Het
Neto2 T C 8: 86,396,292 (GRCm39) I118V probably damaging Het
Nutm2 T G 13: 50,625,075 (GRCm39) M264R probably damaging Het
Or2d2 A G 7: 106,728,244 (GRCm39) S119P probably damaging Het
Or8u8 T C 2: 86,011,939 (GRCm39) probably null Het
Pcnx1 G A 12: 81,964,688 (GRCm39) R285Q probably damaging Het
Pi16 G T 17: 29,545,269 (GRCm39) K177N probably damaging Het
Pigg C T 5: 108,466,794 (GRCm39) S225F possibly damaging Het
Prrc2b T A 2: 32,103,429 (GRCm39) V969E probably damaging Het
Rab4b A C 7: 26,872,154 (GRCm39) Y189D probably benign Het
Ran A G 5: 129,099,246 (GRCm39) N143D possibly damaging Het
Rfc4 A T 16: 22,933,219 (GRCm39) F286L probably damaging Het
Sel1l2 T C 2: 140,089,859 (GRCm39) Y418C probably damaging Het
Slc13a1 T C 6: 24,103,482 (GRCm39) I354V probably benign Het
Slc7a2 A T 8: 41,361,193 (GRCm39) T386S probably benign Het
Tm2d2 G T 8: 25,512,787 (GRCm39) V212F probably benign Het
Tmem247 A T 17: 87,225,721 (GRCm39) N54Y probably damaging Het
Txnrd3 T A 6: 89,633,117 (GRCm39) Y206N probably benign Het
Uba5 T C 9: 103,931,259 (GRCm39) probably benign Het
Vmn2r54 A G 7: 12,369,910 (GRCm39) L51P probably damaging Het
Zfp735 A G 11: 73,601,319 (GRCm39) K88E probably benign Het
Other mutations in Coil
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4519001:Coil UTSW 11 88,863,552 (GRCm39) start gained probably benign
PIT4520001:Coil UTSW 11 88,872,437 (GRCm39) missense probably benign 0.01
R0122:Coil UTSW 11 88,875,833 (GRCm39) splice site probably benign
R0211:Coil UTSW 11 88,872,979 (GRCm39) missense probably damaging 1.00
R0288:Coil UTSW 11 88,872,694 (GRCm39) missense probably damaging 1.00
R0396:Coil UTSW 11 88,872,449 (GRCm39) missense probably benign
R0416:Coil UTSW 11 88,872,812 (GRCm39) missense possibly damaging 0.55
R1251:Coil UTSW 11 88,873,125 (GRCm39) missense possibly damaging 0.93
R1481:Coil UTSW 11 88,864,886 (GRCm39) missense possibly damaging 0.87
R1705:Coil UTSW 11 88,864,962 (GRCm39) missense probably damaging 1.00
R1728:Coil UTSW 11 88,864,802 (GRCm39) missense probably damaging 0.98
R1824:Coil UTSW 11 88,872,923 (GRCm39) missense possibly damaging 0.91
R2989:Coil UTSW 11 88,878,805 (GRCm39) missense probably damaging 1.00
R3819:Coil UTSW 11 88,872,619 (GRCm39) missense probably benign 0.07
R5217:Coil UTSW 11 88,871,987 (GRCm39) missense possibly damaging 0.94
R6997:Coil UTSW 11 88,872,673 (GRCm39) missense probably benign
R7050:Coil UTSW 11 88,872,014 (GRCm39) missense possibly damaging 0.87
R8504:Coil UTSW 11 88,871,980 (GRCm39) nonsense probably null
R9564:Coil UTSW 11 88,872,626 (GRCm39) missense possibly damaging 0.52
RF007:Coil UTSW 11 88,872,656 (GRCm39) small deletion probably benign
Z1176:Coil UTSW 11 88,872,802 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16