Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4519001:Coil'

555128

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: 0.154) question?

Stock #

PIT4519001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88864761-88882439 bp(+) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

C to T at 88863552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000103530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036649] [ENSMUST00000107898]

AlphaFold

Q5SU73

Predicted Effect

probably benign
Transcript: ENSMUST00000036649

SMART Domains

Protein: ENSMUSP00000047588
Gene: ENSMUSG00000033983

Domain	Start	End	E-Value	Type
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

SMART Domains

Protein: ENSMUSP00000103530
Gene: ENSMUSG00000033983

Domain	Start	End	E-Value	Type
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: 90.9%
10x: 84.7%
20x: 70.8%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	A	12: 71,217,440 (GRCm39)	M803K	probably benign	Het
4930590J08Rik	C	A	6: 91,894,038 (GRCm39)	N218K	probably damaging	Het
Abcc2	G	A	19: 43,807,836 (GRCm39)	V826M	possibly damaging	Het
Abcg2	T	C	6: 58,651,792 (GRCm39)	S395P	probably damaging	Het
Adam1b	C	T	5: 121,640,010 (GRCm39)	G345D	probably damaging	Het
Alx4	T	A	2: 93,505,773 (GRCm39)	C292S	probably benign	Het
Amd2	C	A	10: 35,586,627 (GRCm39)	C310F	possibly damaging	Het
BC051665	A	T	13: 60,931,989 (GRCm39)	S137T	possibly damaging	Het
Bmp1	A	G	14: 70,727,469 (GRCm39)	F705L	possibly damaging	Het
Col6a6	G	A	9: 105,609,462 (GRCm39)	P1609S	probably benign	Het
Cpt1b	A	T	15: 89,303,066 (GRCm39)	F633I	probably damaging	Het
Dcun1d2	A	T	8: 13,311,406 (GRCm39)	D194E	probably benign	Het
Defb4	A	G	8: 19,248,752 (GRCm39)	R2G	possibly damaging	Het
Dll4	T	C	2: 119,162,897 (GRCm39)	V506A	probably benign	Het
Dop1b	A	G	16: 93,558,942 (GRCm39)	S563G	probably benign	Het
Dpp7	C	A	2: 25,242,460 (GRCm39)	G498W	probably damaging	Het
Fam210a	A	T	18: 68,409,020 (GRCm39)	S97T	possibly damaging	Het
Fastkd1	T	A	2: 69,520,501 (GRCm39)	D767V	probably damaging	Het
Fgg	A	T	3: 82,920,246 (GRCm39)	N342Y	probably damaging	Het
Gimap6	T	G	6: 48,684,995 (GRCm39)	R30S	probably benign	Het
Gm10840	T	C	11: 106,051,959 (GRCm39)	V95A	unknown	Het
Herc3	T	A	6: 58,853,796 (GRCm39)	I614N	probably damaging	Het
Kdr	A	T	5: 76,097,556 (GRCm39)	S1233R	possibly damaging	Het
Lrp1	C	G	10: 127,443,843 (GRCm39)	Q141H	possibly damaging	Het
Magi2	A	T	5: 20,866,344 (GRCm39)	K1078N	probably damaging	Het
Meioc	A	T	11: 102,570,783 (GRCm39)	E838V	probably damaging	Het
Mmp20	A	G	9: 7,628,302 (GRCm39)	K17E	probably benign	Het
Mtor	C	T	4: 148,608,957 (GRCm39)	R1538W	probably damaging	Het
Notch2	C	T	3: 98,005,424 (GRCm39)	T296I	probably damaging	Het
Nup98	T	C	7: 101,784,171 (GRCm39)	S1054G	probably benign	Het
Or10ac1	T	C	6: 42,515,534 (GRCm39)	T141A	probably damaging	Het
Or2a12	T	C	6: 42,904,578 (GRCm39)	C138R	probably damaging	Het
Or5b109	A	C	19: 13,212,216 (GRCm39)	I201L	probably benign	Het
Or6f1	T	C	7: 85,970,941 (GRCm39)	Y73C	probably damaging	Het
Pipox	C	A	11: 77,774,001 (GRCm39)	W205L	probably damaging	Het
Plin4	T	G	17: 56,410,828 (GRCm39)	T1068P	probably benign	Het
Pou6f2	A	G	13: 18,414,149 (GRCm39)	S209P	unknown	Het
Ptpdc1	T	C	13: 48,736,632 (GRCm39)	T713A	probably benign	Het
Rgsl1	T	C	1: 153,701,716 (GRCm39)	Y246C	possibly damaging	Het
Rnf19b	C	T	4: 128,969,446 (GRCm39)	A354V	probably damaging	Het
Rsph4a	A	G	10: 33,785,126 (GRCm39)	T346A	probably benign	Het
Rsrc2	T	C	5: 123,883,135 (GRCm39)	T16A	unknown	Het
Scrn3	T	C	2: 73,148,768 (GRCm39)	V113A	possibly damaging	Het
Scrn3	T	A	2: 73,161,347 (GRCm39)	I311K	possibly damaging	Het
Sfmbt1	T	C	14: 30,506,148 (GRCm39)		probably null	Het
Sin3a	A	G	9: 57,002,740 (GRCm39)	I211V	possibly damaging	Het
Strn3	T	C	12: 51,680,491 (GRCm39)	T370A	probably benign	Het
Sulf1	T	G	1: 12,918,395 (GRCm39)	N786K	probably damaging	Het
Taf1b	T	A	12: 24,597,118 (GRCm39)	Y352*	probably null	Het
Tas2r120	T	A	6: 132,634,297 (GRCm39)	N126K	probably benign	Het
Tjap1	C	A	17: 46,572,432 (GRCm39)	R68L	probably benign	Het
Tnfsf12	C	T	11: 69,586,230 (GRCm39)	R66Q	probably benign	Het
Traj45	A	G	14: 54,410,303 (GRCm39)	D6G		Het
Trappc9	T	C	15: 72,824,943 (GRCm39)	T541A	probably benign	Het
Ttc29	A	C	8: 79,052,106 (GRCm39)	E329A	probably benign	Het
Vmn1r117	T	G	7: 20,617,160 (GRCm39)	D296A	possibly damaging	Het
Vmn1r203	A	G	13: 22,708,765 (GRCm39)	N182S	probably benign	Het
Vps53	C	A	11: 76,007,999 (GRCm39)	R287L	probably damaging	Het
Vwce	G	A	19: 10,641,946 (GRCm39)	E891K	possibly damaging	Het
Zfp608	T	C	18: 55,079,783 (GRCm39)	N334S	possibly damaging	Het
Zfp648	A	G	1: 154,080,687 (GRCm39)	H282R	probably damaging	Het

Other mutations in Coil

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02238:Coil	APN	11	88,872,580 (GRCm39)	missense	probably benign	0.02
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

Predicted Primers

PCR Primer
(F):5'- TGCAGATATCCAATTGAAACCAGC -3'
(R):5'- AGGCCTTCAAAGACATCTCCTG -3'

Sequencing Primer
(F):5'- CCTTTCCTGTCAGGGTCAGAGAAAC -3'
(R):5'- AAGACATCTCCTGTTCTGAAGGC -3'

Posted On

2019-06-07