Incidental Mutation 'R1073:Ncl'
| ID |
85516 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ncl
|
| Ensembl Gene |
ENSMUSG00000026234 |
| Gene Name |
nucleolin |
| Synonyms |
C23, B530004O11Rik |
| MMRRC Submission |
039159-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R1073 (G1)
|
| Quality Score |
217 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
86272441-86287122 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (3 aa in frame mutation) |
| DNA Base Change (assembly) |
AAAGCCTCCC to AAAGCCTCCCAAGCCTCCC
at 86278538 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027438
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027438]
|
| AlphaFold |
P09405 |
| Predicted Effect |
probably benign
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: ENSMUST00000082903
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185676
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000186050
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188682
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000189504
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197651
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.1%
- 10x: 97.5%
- 20x: 94.5%
|
| Validation Efficiency |
98% (40/41) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Asap3 |
T |
C |
4: 135,963,742 (GRCm39) |
I334T |
probably damaging |
Het |
| Atxn7l3 |
C |
G |
11: 102,183,261 (GRCm39) |
|
probably benign |
Het |
| Cacna2d3 |
T |
A |
14: 28,767,580 (GRCm39) |
H765L |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,030,195 (GRCm39) |
|
probably null |
Het |
| Csmd1 |
C |
T |
8: 16,408,477 (GRCm39) |
|
probably benign |
Het |
| Cux1 |
A |
T |
5: 136,281,395 (GRCm39) |
|
probably null |
Het |
| D7Ertd443e |
T |
C |
7: 133,871,947 (GRCm39) |
K232R |
probably damaging |
Het |
| Dock6 |
A |
G |
9: 21,757,814 (GRCm39) |
S97P |
probably benign |
Het |
| Eml5 |
G |
A |
12: 98,797,232 (GRCm39) |
A1099V |
probably damaging |
Het |
| Gtf2h1 |
G |
A |
7: 46,466,368 (GRCm39) |
A472T |
probably damaging |
Het |
| Krt82 |
T |
A |
15: 101,458,689 (GRCm39) |
D117V |
probably damaging |
Het |
| Lrfn5 |
A |
G |
12: 61,887,595 (GRCm39) |
Y461C |
probably damaging |
Het |
| Mmrn2 |
G |
A |
14: 34,118,251 (GRCm39) |
|
probably null |
Het |
| Mrtfb |
T |
A |
16: 13,230,182 (GRCm39) |
S956T |
possibly damaging |
Het |
| Msrb3 |
T |
A |
10: 120,620,041 (GRCm39) |
S93C |
possibly damaging |
Het |
| Or8k41 |
A |
G |
2: 86,313,984 (GRCm39) |
I34T |
probably damaging |
Het |
| Osbpl10 |
C |
T |
9: 115,036,621 (GRCm39) |
Q381* |
probably null |
Het |
| Pelp1 |
A |
G |
11: 70,287,416 (GRCm39) |
L464P |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,226,431 (GRCm39) |
D216G |
probably benign |
Het |
| Ptprk |
T |
C |
10: 28,372,943 (GRCm39) |
|
probably null |
Het |
| Pyroxd1 |
T |
C |
6: 142,294,370 (GRCm39) |
|
probably null |
Het |
| Ros1 |
T |
A |
10: 51,922,221 (GRCm39) |
D2284V |
probably damaging |
Het |
| Rptor |
T |
C |
11: 119,634,717 (GRCm39) |
S178P |
possibly damaging |
Het |
| Slc8a1 |
C |
T |
17: 81,955,836 (GRCm39) |
D401N |
probably damaging |
Het |
| Tas2r143 |
T |
C |
6: 42,377,694 (GRCm39) |
Y175H |
probably benign |
Het |
| Tdrd9 |
T |
C |
12: 111,989,693 (GRCm39) |
S502P |
probably damaging |
Het |
| Tmem38a |
A |
G |
8: 73,333,947 (GRCm39) |
H142R |
probably damaging |
Het |
| Tmem44 |
A |
G |
16: 30,333,651 (GRCm39) |
|
probably benign |
Het |
| Ugt2b38 |
T |
G |
5: 87,560,232 (GRCm39) |
N361H |
probably damaging |
Het |
| Umod |
A |
G |
7: 119,063,964 (GRCm39) |
V614A |
possibly damaging |
Het |
| Vmn2r5 |
A |
T |
3: 64,398,726 (GRCm39) |
L751* |
probably null |
Het |
| Wdr37 |
A |
T |
13: 8,855,876 (GRCm39) |
I489N |
probably damaging |
Het |
| Xdh |
T |
C |
17: 74,246,831 (GRCm39) |
T78A |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,220,272 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Ncl |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00957:Ncl
|
APN |
1 |
86,284,091 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTCTTGCCAAGCTCTTAAGCAAC -3'
(R):5'- TGAGGAAGATGCCAAAGCTGCC -3'
Sequencing Primer
(F):5'- GGCTCTGTCATTGAACAGGTAAC -3'
(R):5'- GCCAAAGCTGCCAAGGAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation