Incidental Mutation 'R3819:Coil'
| ID |
274828 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Coil
|
| Ensembl Gene |
ENSMUSG00000033983 |
| Gene Name |
coilin |
| Synonyms |
Cln80, p80-coilin |
| MMRRC Submission |
040773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.165)
|
| Stock # |
R3819 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
88864761-88882439 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88872619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 380
(F380L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036649]
[ENSMUST00000107898]
|
| AlphaFold |
Q5SU73 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036649
AA Change: F327L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000047588
Gene: ENSMUSG00000033983
AA Change: F327L
| 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
AA Change: F327L
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000103530
Gene: ENSMUSG00000033983
AA Change: F327L
| 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 |
probably benign
Transcript: ENSMUST00000135325
AA Change: F380L
PolyPhen 2
Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000119450
Gene: ENSMUSG00000033983
AA Change: F380L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
30 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
217 |
223 |
N/A |
INTRINSIC |
|
low complexity region
|
230 |
251 |
N/A |
INTRINSIC |
|
low complexity region
|
356 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
457 |
473 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.7%
- 20x: 96.1%
|
| Validation Efficiency |
100% (38/38) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
T |
C |
6: 86,936,024 (GRCm39) |
|
probably benign |
Het |
| Atp1b1 |
C |
T |
1: 164,270,874 (GRCm39) |
R35H |
probably benign |
Het |
| Barx1 |
T |
C |
13: 48,818,960 (GRCm39) |
I200T |
possibly damaging |
Het |
| Csmd1 |
C |
T |
8: 16,052,522 (GRCm39) |
A2201T |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,603,222 (GRCm39) |
C417R |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,572,503 (GRCm39) |
|
probably null |
Het |
| Gabrg3 |
G |
A |
7: 57,031,412 (GRCm39) |
Q43* |
probably null |
Het |
| Gbp7 |
C |
A |
3: 142,249,826 (GRCm39) |
H432Q |
possibly damaging |
Het |
| Gjb2 |
A |
G |
14: 57,337,530 (GRCm39) |
V226A |
probably benign |
Het |
| Gsdme |
A |
C |
6: 50,196,391 (GRCm39) |
S340A |
probably benign |
Het |
| Hivep2 |
T |
C |
10: 14,019,685 (GRCm39) |
V2152A |
possibly damaging |
Het |
| Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krt34 |
T |
C |
11: 99,930,844 (GRCm39) |
E186G |
probably damaging |
Het |
| Ly9 |
G |
T |
1: 171,416,653 (GRCm39) |
T537N |
possibly damaging |
Het |
| Msantd4 |
A |
G |
9: 4,385,237 (GRCm39) |
K321E |
probably damaging |
Het |
| Or5ac22 |
A |
G |
16: 59,135,434 (GRCm39) |
F112S |
probably damaging |
Het |
| Or5p59 |
A |
G |
7: 107,702,705 (GRCm39) |
Y63C |
possibly damaging |
Het |
| Or8b12c |
C |
T |
9: 37,715,465 (GRCm39) |
S86L |
probably benign |
Het |
| Or8b40 |
A |
T |
9: 38,027,922 (GRCm39) |
T277S |
possibly damaging |
Het |
| Or8b55 |
A |
G |
9: 38,727,722 (GRCm39) |
K308E |
possibly damaging |
Het |
| Paxbp1 |
A |
C |
16: 90,819,640 (GRCm39) |
|
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,735,758 (GRCm39) |
D366E |
probably benign |
Het |
| Pramel22 |
T |
A |
4: 143,382,365 (GRCm39) |
E110D |
probably benign |
Het |
| Prdm5 |
T |
C |
6: 65,913,041 (GRCm39) |
F391L |
possibly damaging |
Het |
| Rasef |
C |
G |
4: 73,677,942 (GRCm39) |
D95H |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Skint3 |
A |
T |
4: 112,113,085 (GRCm39) |
I232F |
possibly damaging |
Het |
| Slc43a3 |
T |
C |
2: 84,774,896 (GRCm39) |
I158T |
probably damaging |
Het |
| Smad1 |
G |
A |
8: 80,070,359 (GRCm39) |
A393V |
probably benign |
Het |
| Sorl1 |
A |
G |
9: 41,975,345 (GRCm39) |
L487P |
possibly damaging |
Het |
| Sspo |
A |
T |
6: 48,458,037 (GRCm39) |
E3269V |
possibly damaging |
Het |
| Stat3 |
C |
T |
11: 100,789,459 (GRCm39) |
S377N |
probably damaging |
Het |
| Tbpl2 |
A |
G |
2: 23,966,024 (GRCm39) |
V321A |
probably damaging |
Het |
| Tnfrsf11a |
C |
T |
1: 105,737,085 (GRCm39) |
T64I |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,729,047 (GRCm39) |
|
probably benign |
Het |
| Wdr37 |
A |
G |
13: 8,903,632 (GRCm39) |
|
probably benign |
Het |
| Xdh |
A |
T |
17: 74,213,720 (GRCm39) |
I811K |
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 |
|
R2989:Coil
|
UTSW |
11 |
88,878,805 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGCAGTGTCATGATGCAGG -3'
(R):5'- ATCCTCTTCCCAAACTGGTGG -3'
Sequencing Primer
(F):5'- CAGGAGGTCACCTTTTCAGAG -3'
(R):5'- TGGTGGGGACAGGCGTAC -3'
|
| Posted On |
2015-04-02 |
Incidental Mutation