Incidental Mutation 'R6997:Coil'
ID 544298
Institutional Source Beutler Lab
Gene Symbol Coil
Ensembl Gene ENSMUSG00000033983
Gene Name coilin
Synonyms Cln80, p80-coilin
MMRRC Submission 045103-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.165) question?
Stock # R6997 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 88864761-88882439 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88872673 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 345 (T345A)
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: T345A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000047588
Gene: ENSMUSG00000033983
AA Change: T345A

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: T345A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000103530
Gene: ENSMUSG00000033983
AA Change: T345A

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 97% (58/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam3 T C 8: 25,171,539 (GRCm39) Y764C probably benign Het
Atxn1 C T 13: 45,721,095 (GRCm39) V267M probably benign Het
Cadps T A 14: 12,505,793 (GRCm38) H759L possibly damaging Het
Calcoco2 GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC GGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTCCTCCCAGGAGGCCTTCTCTTTCTCCCAGGAGGCCTTCTCTTCC 11: 95,990,808 (GRCm39) probably benign Het
Caprin2 A G 6: 148,779,474 (GRCm39) L111P probably damaging Het
Ccl8 A T 11: 82,006,865 (GRCm39) D26V possibly damaging Het
Cdh19 T C 1: 110,882,596 (GRCm39) probably benign Het
Cnga3 C A 1: 37,283,965 (GRCm39) H89Q probably benign Het
Cnga4 A T 7: 105,056,190 (GRCm39) Q264L probably damaging Het
Cyp11b2 A G 15: 74,723,281 (GRCm39) L461P probably damaging Het
Dock2 T C 11: 34,414,922 (GRCm39) E151G probably damaging Het
Dsc1 C T 18: 20,219,701 (GRCm39) probably null Het
Dync2h1 A T 9: 7,168,743 (GRCm39) C357S probably null Het
Ebf3 A C 7: 136,826,994 (GRCm39) I306R probably damaging Het
Eprs1 A G 1: 185,128,360 (GRCm39) H580R possibly damaging Het
Ermap A T 4: 119,035,810 (GRCm39) F393I probably damaging Het
Flii T C 11: 60,613,151 (GRCm39) T217A probably benign Het
Fras1 C T 5: 96,762,732 (GRCm39) Q745* probably null Het
Gja8 A G 3: 96,826,657 (GRCm39) V335A probably benign Het
Gm21560 A T 14: 6,218,333 (GRCm38) N48K probably damaging Het
Gpr158 C T 2: 21,653,802 (GRCm39) T457I possibly damaging Het
Kcnv1 A T 15: 44,977,997 (GRCm39) S14T unknown Het
Lamb2 T C 9: 108,358,496 (GRCm39) Y178H probably damaging Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Map1b T C 13: 99,567,142 (GRCm39) T1860A unknown Het
Map2k7 T C 8: 4,294,035 (GRCm39) Y194H possibly damaging Het
Map4 T A 9: 109,881,982 (GRCm39) M282K probably benign Het
Mmp10 A G 9: 7,503,531 (GRCm39) I134V probably benign Het
Mrtfa G T 15: 80,902,649 (GRCm39) S220* probably null Het
Msh5 A T 17: 35,248,978 (GRCm39) L685Q probably damaging Het
Myh1 T A 11: 67,111,463 (GRCm39) I1634N possibly damaging Het
Myh13 C T 11: 67,217,980 (GRCm39) R18* probably null Het
Myo3b A T 2: 69,957,329 (GRCm39) I185L probably damaging Het
Ninl G T 2: 150,808,145 (GRCm39) H294Q probably benign Het
Or4a79 G A 2: 89,552,269 (GRCm39) A62V possibly damaging Het
Or51b17 A T 7: 103,542,238 (GRCm39) S235T probably benign Het
Or8b44 T C 9: 38,410,607 (GRCm39) I214T possibly damaging Het
Orm3 T A 4: 63,275,180 (GRCm39) L97Q probably damaging Het
Osbpl1a T C 18: 12,889,281 (GRCm39) N432S probably benign Het
Pikfyve T A 1: 65,285,822 (GRCm39) D1020E probably damaging Het
Pxk T A 14: 8,122,371 (GRCm38) D60E probably benign Het
Rack1 T A 11: 48,694,752 (GRCm39) V198E probably damaging Het
Ripk1 C T 13: 34,201,100 (GRCm39) A271V probably benign Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr2 G T 13: 11,669,266 (GRCm39) H3513N possibly damaging Het
Scn7a A T 2: 66,534,147 (GRCm39) D509E probably damaging Het
Selplg GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT 5: 113,957,756 (GRCm39) probably benign Het
Sfxn5 A G 6: 85,233,414 (GRCm39) V181A probably benign Het
Slc5a4b C T 10: 75,925,812 (GRCm39) A198T probably damaging Het
Sp2 C T 11: 96,848,552 (GRCm39) R357H possibly damaging Het
Tchh CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC CTCCGCCGGGAGCAAGAGCTCCGCCGGGAGCAAGAGTTCCGCCGGGAGCAAGAGCTCCGCC 3: 93,354,015 (GRCm39) probably benign Het
Tnfrsf11b G A 15: 54,115,770 (GRCm39) L276F probably damaging Het
Usp37 A G 1: 74,493,118 (GRCm39) V723A probably benign Het
Usp45 G T 4: 21,781,844 (GRCm39) R36I probably damaging Het
Vcan T C 13: 89,838,737 (GRCm39) D2269G probably damaging Het
Vmn2r18 T A 5: 151,485,338 (GRCm39) M719L possibly damaging Het
Vmn2r52 C T 7: 9,902,998 (GRCm39) G477R probably benign Het
Vmn2r60 C A 7: 41,791,716 (GRCm39) N546K probably benign Het
Wnt8b G A 19: 44,500,280 (GRCm39) C289Y probably damaging Het
Zdbf2 T G 1: 63,329,925 (GRCm39) M10R probably benign Het
Zfp945 T A 17: 23,071,543 (GRCm39) K140* probably null 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
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
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'- TGCACCTGCTACCAAGACTG -3'
(R):5'- AAGACACAGGAGACCGCTTG -3'

Sequencing Primer
(F):5'- TGCTACCAAGACTGCAGCTG -3'
(R):5'- TTCCCAAACAACAAGTCCTCTCCTC -3'
Posted On 2019-05-13