Incidental Mutation 'R2989:Coil'
ID 257871
Institutional Source Beutler Lab
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 # R2989 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 88864761-88882439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 88878805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 520 (A520D)
Ref Sequence ENSEMBL: ENSMUSP00000103530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036649] [ENSMUST00000107898]
AlphaFold Q5SU73
Predicted Effect probably damaging
Transcript: ENSMUST00000036649
AA Change: A520D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000047588
Gene: ENSMUSG00000033983
AA Change: A520D

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 damaging
Transcript: ENSMUST00000107898
AA Change: A520D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000103530
Gene: ENSMUSG00000033983
AA Change: A520D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140549
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.1%
  • 20x: 94.4%
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: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,729,866 (GRCm39) T205I probably damaging Het
Arhgap32 T A 9: 32,150,694 (GRCm39) N31K possibly damaging Het
C1galt1 A G 6: 7,866,622 (GRCm39) D156G possibly damaging Het
Chrna3 C T 9: 54,923,334 (GRCm39) C158Y probably damaging Het
Cnot1 T C 8: 96,470,906 (GRCm39) E1314G possibly damaging Het
Cpe G T 8: 65,050,549 (GRCm39) N386K probably benign Het
Fat4 T C 3: 39,061,302 (GRCm39) I4295T probably benign Het
Foxn1 C G 11: 78,249,603 (GRCm39) G641R possibly damaging Het
G530012D18Rik GAGAGAGACAGAGAGACAGAGA GAGAGAGACAGAGA 1: 85,504,937 (GRCm39) probably null Het
Intu A G 3: 40,647,140 (GRCm39) K671R probably benign Het
Jup T C 11: 100,267,667 (GRCm39) D552G possibly damaging Het
Kcnk9 T C 15: 72,384,207 (GRCm39) T324A unknown Het
Mettl5 G T 2: 69,711,659 (GRCm39) A69E probably damaging Het
Or8b3b A T 9: 38,583,831 (GRCm39) M303K probably benign Het
Rpf2 A G 10: 40,115,749 (GRCm39) S77P probably benign Het
Sgo1 A G 17: 53,994,162 (GRCm39) Y97H probably benign Het
Srsf12 T C 4: 33,223,599 (GRCm39) Y33H probably damaging Het
Tcerg1 T A 18: 42,652,540 (GRCm39) M56K unknown Het
Trafd1 T C 5: 121,517,529 (GRCm39) T63A probably damaging Het
Ttc28 G A 5: 111,371,881 (GRCm39) V777I probably benign Het
Ubr4 A G 4: 139,190,869 (GRCm39) E937G possibly damaging Het
Zfp677 T C 17: 21,617,114 (GRCm39) I57T probably benign Het
Zfp981 T A 4: 146,622,347 (GRCm39) I424N probably benign Het
Other mutations in Coil
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02238:Coil APN 11 88,872,580 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers PCR Primer
(F):5'- ACATTCTCCATGGGTGCACC -3'
(R):5'- CGGTTCAGGAAGCTGCAATG -3'

Sequencing Primer
(F):5'- ATCAAGCCTGTGTCATTCTGATGAG -3'
(R):5'- AAGCTGCAATGTCAGCCCTTG -3'
Posted On 2015-01-11