Incidental Mutation 'IGL00957:Ncl'
| ID |
26713 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ncl
|
| Ensembl Gene |
ENSMUSG00000026234 |
| Gene Name |
nucleolin |
| Synonyms |
C23, B530004O11Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
IGL00957
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
86272441-86287122 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 86284091 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027438]
[ENSMUST00000185785]
|
| AlphaFold |
P09405 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027438
|
| SMART Domains |
Protein: ENSMUSP00000027438
Gene: ENSMUSG00000026234
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
23 |
47 |
N/A |
INTRINSIC |
|
low complexity region
|
51 |
66 |
N/A |
INTRINSIC |
|
low complexity region
|
69 |
92 |
N/A |
INTRINSIC |
|
low complexity region
|
121 |
142 |
N/A |
INTRINSIC |
|
low complexity region
|
143 |
168 |
N/A |
INTRINSIC |
|
low complexity region
|
178 |
188 |
N/A |
INTRINSIC |
|
low complexity region
|
189 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
273 |
N/A |
INTRINSIC |
|
low complexity region
|
288 |
299 |
N/A |
INTRINSIC |
|
RRM
|
310 |
381 |
2.1e-8 |
SMART |
|
RRM
|
396 |
464 |
1.97e-13 |
SMART |
|
RRM
|
488 |
557 |
4.56e-18 |
SMART |
|
RRM
|
570 |
640 |
1.04e-21 |
SMART |
|
low complexity region
|
648 |
695 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082762
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082889
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127284
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137643
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185676
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185785
|
| SMART Domains |
Protein: ENSMUSP00000140696
Gene: ENSMUSG00000026234
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
35 |
50 |
N/A |
INTRINSIC |
|
low complexity region
|
53 |
76 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000190804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197651
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189504
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleolin (NCL), a eukaryotic nucleolar phosphoprotein, is involved in the synthesis and maturation of ribosomes. It is located mainly in dense fibrillar regions of the nucleolus. Human NCL gene consists of 14 exons with 13 introns and spans approximately 11kb. The intron 11 of the NCL gene encodes a small nucleolar RNA, termed U20. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam23 |
T |
A |
1: 63,573,470 (GRCm39) |
I246N |
probably benign |
Het |
| Adora1 |
A |
G |
1: 134,130,951 (GRCm39) |
L240P |
probably damaging |
Het |
| Ago4 |
C |
T |
4: 126,410,926 (GRCm39) |
V188I |
probably benign |
Het |
| Ccdc138 |
T |
A |
10: 58,364,838 (GRCm39) |
|
probably benign |
Het |
| Cpeb4 |
A |
G |
11: 31,823,204 (GRCm39) |
Y306C |
probably damaging |
Het |
| Ctsz |
T |
C |
2: 174,269,771 (GRCm39) |
E272G |
probably damaging |
Het |
| Dst |
G |
A |
1: 34,267,488 (GRCm39) |
V5155I |
probably benign |
Het |
| Fabp12 |
C |
T |
3: 10,315,273 (GRCm39) |
|
probably null |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Hpcal1 |
G |
A |
12: 17,837,591 (GRCm39) |
E142K |
probably benign |
Het |
| Hspa4 |
G |
A |
11: 53,171,514 (GRCm39) |
T230I |
probably benign |
Het |
| Htt |
T |
C |
5: 34,964,068 (GRCm39) |
V387A |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,025,747 (GRCm39) |
|
probably benign |
Het |
| Lrrc30 |
G |
A |
17: 67,939,499 (GRCm39) |
S27L |
probably benign |
Het |
| Mtpn |
A |
G |
6: 35,516,547 (GRCm39) |
|
probably benign |
Het |
| Mug2 |
A |
G |
6: 122,017,613 (GRCm39) |
Y450C |
probably damaging |
Het |
| Or8k23 |
A |
T |
2: 86,186,477 (GRCm39) |
V83E |
possibly damaging |
Het |
| Psmd3 |
T |
A |
11: 98,576,394 (GRCm39) |
S99T |
probably benign |
Het |
| Rb1cc1 |
G |
A |
1: 6,319,763 (GRCm39) |
A1061T |
probably damaging |
Het |
| Rhbdd1 |
T |
C |
1: 82,318,362 (GRCm39) |
Y82H |
probably damaging |
Het |
| Slc5a6 |
T |
C |
5: 31,196,279 (GRCm39) |
|
probably benign |
Het |
| Sox6 |
T |
C |
7: 115,376,327 (GRCm39) |
K135R |
probably damaging |
Het |
| Tasor2 |
T |
A |
13: 3,627,101 (GRCm39) |
I950F |
possibly damaging |
Het |
| Tbx21 |
A |
G |
11: 96,989,920 (GRCm39) |
V424A |
probably benign |
Het |
| Trpa1 |
A |
T |
1: 14,951,892 (GRCm39) |
Y936N |
probably damaging |
Het |
| Ttn |
G |
T |
2: 76,569,280 (GRCm39) |
D25458E |
probably damaging |
Het |
| Zfp629 |
C |
T |
7: 127,211,896 (GRCm39) |
V6M |
probably damaging |
Het |
|
| Other mutations in Ncl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03328:Ncl
|
APN |
1 |
86,280,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4498001:Ncl
|
UTSW |
1 |
86,279,162 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R0348:Ncl
|
UTSW |
1 |
86,284,362 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1073:Ncl
|
UTSW |
1 |
86,278,538 (GRCm39) |
small insertion |
probably benign |
|
|
R2021:Ncl
|
UTSW |
1 |
86,284,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2022:Ncl
|
UTSW |
1 |
86,284,677 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4672:Ncl
|
UTSW |
1 |
86,284,324 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4900:Ncl
|
UTSW |
1 |
86,283,901 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6028:Ncl
|
UTSW |
1 |
86,283,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7411:Ncl
|
UTSW |
1 |
86,278,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8113:Ncl
|
UTSW |
1 |
86,284,364 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R9083:Ncl
|
UTSW |
1 |
86,279,183 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9210:Ncl
|
UTSW |
1 |
86,280,239 (GRCm39) |
missense |
probably benign |
0.29 |
|
| Posted On |
2013-04-17 |
Incidental Mutation