Incidental Mutation 'PIT4520001:Coil'
ID 555189
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 # PIT4520001 (G1)
Quality Score 155.008
Status Not validated
Chromosome 11
Chromosomal Location 88864761-88882439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88872437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 266 (M266T)
Ref Sequence ENSEMBL: ENSMUSP00000047588 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036649] [ENSMUST00000107898]
AlphaFold Q5SU73
Predicted Effect probably benign
Transcript: ENSMUST00000036649
AA Change: M266T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000047588
Gene: ENSMUSG00000033983
AA Change: M266T

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: M266T

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103530
Gene: ENSMUSG00000033983
AA Change: M266T

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
  • 1x: 93.5%
  • 3x: 91.1%
  • 10x: 86.1%
  • 20x: 75.5%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy1 A G 11: 7,117,133 (GRCm39) N1000S probably damaging Het
Adgrb1 A G 15: 74,413,508 (GRCm39) D564G probably damaging Het
Ankmy2 A G 12: 36,207,390 (GRCm39) E12G probably benign Het
Arid1a C T 4: 133,409,227 (GRCm39) S1375N unknown Het
Atp1a2 G A 1: 172,106,941 (GRCm39) A793V probably benign Het
Atp8b1 T C 18: 64,701,251 (GRCm39) Y369C probably benign Het
Catsperg2 A G 7: 29,409,586 (GRCm39) Y536H possibly damaging Het
Ccdc178 A G 18: 22,200,470 (GRCm39) Y445H probably damaging Het
Cep170 G T 1: 176,607,765 (GRCm39) N230K unknown Het
Cftr A G 6: 18,277,842 (GRCm39) I977V probably benign Het
Chek2 A G 5: 111,011,195 (GRCm39) Y331C probably damaging Het
Chst13 A T 6: 90,286,167 (GRCm39) I265K probably benign Het
Col16a1 T A 4: 129,945,456 (GRCm39) C28S unknown Het
Col3a1 T C 1: 45,374,943 (GRCm39) probably null Het
Csmd1 C T 8: 15,956,023 (GRCm39) V3395M probably benign Het
Cyp51 A G 5: 4,151,200 (GRCm39) V143A probably damaging Het
Eif2ak1 C T 5: 143,836,027 (GRCm39) Q573* probably null Het
Eif2ak4 T A 2: 118,292,808 (GRCm39) I1344N probably damaging Het
Fhip1a G A 3: 85,579,779 (GRCm39) Q809* probably null Het
Gen1 A G 12: 11,291,509 (GRCm39) V825A probably benign Het
Gm28042 A T 2: 119,870,148 (GRCm39) K696* probably null Het
Gm4952 A G 19: 12,602,048 (GRCm39) Y152C probably benign Het
Hdac3 G A 18: 38,074,817 (GRCm39) T308I probably damaging Het
Hpx T C 7: 105,241,341 (GRCm39) T357A probably benign Het
Hscb A T 5: 110,983,851 (GRCm39) Y139N probably damaging Het
Kcnk9 T A 15: 72,384,332 (GRCm39) H282L probably benign Het
Kdm2b G A 5: 123,079,110 (GRCm39) T287M probably damaging Het
Kif19a C T 11: 114,672,034 (GRCm39) T207M probably damaging Het
Kmt2c A C 5: 25,520,664 (GRCm39) N1815K probably benign Het
Ktn1 C T 14: 47,923,774 (GRCm39) T511M probably damaging Het
Lrp1 C G 10: 127,443,843 (GRCm39) Q141H possibly damaging Het
Lrrc43 T C 5: 123,630,530 (GRCm39) V131A possibly damaging Het
Man1b1 T A 2: 25,233,282 (GRCm39) H218Q probably damaging Het
Mapk8ip2 T A 15: 89,344,900 (GRCm39) C766S probably damaging Het
Mfn1 A G 3: 32,615,695 (GRCm39) N353D probably benign Het
Mtcl1 A T 17: 66,692,907 (GRCm39) L474Q possibly damaging Het
Mtr T A 13: 12,212,871 (GRCm39) R915* probably null Het
Myh6 C A 14: 55,187,581 (GRCm39) V1263L probably benign Het
Nt5m C A 11: 59,765,415 (GRCm39) L148M probably benign Het
Or4a67 A G 2: 88,597,921 (GRCm39) V246A possibly damaging Het
Or51t4 A T 7: 102,597,921 (GRCm39) D83V probably damaging Het
Or8k21 T C 2: 86,145,142 (GRCm39) I163V possibly damaging Het
Pbrm1 T A 14: 30,789,818 (GRCm39) F811I probably damaging Het
Pcnt A G 10: 76,256,069 (GRCm39) S724P probably damaging Het
Pfdn5 C A 15: 102,237,158 (GRCm39) D98E probably benign Het
Ptprs G A 17: 56,721,980 (GRCm39) P1715S probably damaging Het
Rtkn2 T A 10: 67,823,291 (GRCm39) L65Q probably damaging Het
Scn2a G A 2: 65,518,763 (GRCm39) R379H probably damaging Het
Scn5a G T 9: 119,363,636 (GRCm39) D501E possibly damaging Het
Spn C A 7: 126,735,611 (GRCm39) G299W probably damaging Het
St6galnac1 T C 11: 116,660,175 (GRCm39) N46S probably benign Het
Stx19 A G 16: 62,642,871 (GRCm39) D229G probably benign Het
Tmc6 A T 11: 117,663,556 (GRCm39) M552K possibly damaging Het
Tnpo3 G C 6: 29,555,221 (GRCm39) D787E possibly damaging Het
Tyw5 T C 1: 57,427,674 (GRCm39) Y310C probably damaging Het
Vmn2r15 A G 5: 109,434,871 (GRCm39) F611S probably damaging Het
Vmn2r49 C T 7: 9,722,988 (GRCm39) M95I probably benign Het
Wfdc8 A G 2: 164,445,223 (GRCm39) S131P probably benign Het
Zfp407 A T 18: 84,450,545 (GRCm39) M1597K probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- GGCCTCCAAGTCTTCCAAAC -3'
(R):5'- GAGCATGTTCTTGGACACCAG -3'

Sequencing Primer
(F):5'- GTCTTCCAAACAACAGACGCCTAAAG -3'
(R):5'- GGAACTGGTCTTCCGACTCTGAAC -3'
Posted On 2019-06-07