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)
|
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
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 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
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 |
|
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |