Incidental Mutation 'R7025:Nop56'
ID |
545891 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nop56
|
Ensembl Gene |
ENSMUSG00000027405 |
Gene Name |
NOP56 ribonucleoprotein |
Synonyms |
NOP56, 56kDa with KKE/D repeat, Nol5a, 2310044F10Rik |
MMRRC Submission |
045126-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.964)
|
Stock # |
R7025 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
130116350-130121233 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 130119801 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 81
(R81*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000124080
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028890]
[ENSMUST00000028892]
[ENSMUST00000103198]
[ENSMUST00000136621]
[ENSMUST00000159373]
[ENSMUST00000184538]
|
AlphaFold |
Q9D6Z1 |
Predicted Effect |
probably null
Transcript: ENSMUST00000028890
AA Change: R114*
|
SMART Domains |
Protein: ENSMUSP00000028890 Gene: ENSMUSG00000027405 AA Change: R114*
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
Pfam:Nop
|
44 |
127 |
1.1e-26 |
PFAM |
coiled coil region
|
131 |
176 |
N/A |
INTRINSIC |
low complexity region
|
185 |
204 |
N/A |
INTRINSIC |
low complexity region
|
213 |
228 |
N/A |
INTRINSIC |
low complexity region
|
242 |
264 |
N/A |
INTRINSIC |
low complexity region
|
280 |
292 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000028892
|
SMART Domains |
Protein: ENSMUSP00000028892 Gene: ENSMUSG00000027406
Domain | Start | End | E-Value | Type |
low complexity region
|
28 |
40 |
N/A |
INTRINSIC |
Iso_dh
|
49 |
375 |
1.43e-140 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000103198
AA Change: R398*
|
SMART Domains |
Protein: ENSMUSP00000099487 Gene: ENSMUSG00000027405 AA Change: R398*
Domain | Start | End | E-Value | Type |
Pfam:NOP5NT
|
5 |
70 |
4.3e-20 |
PFAM |
NOSIC
|
167 |
219 |
1.18e-30 |
SMART |
internal_repeat_1
|
257 |
305 |
4.06e-5 |
PROSPERO |
coiled coil region
|
415 |
460 |
N/A |
INTRINSIC |
low complexity region
|
469 |
488 |
N/A |
INTRINSIC |
low complexity region
|
497 |
512 |
N/A |
INTRINSIC |
low complexity region
|
526 |
548 |
N/A |
INTRINSIC |
low complexity region
|
564 |
576 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136621
|
SMART Domains |
Protein: ENSMUSP00000124616 Gene: ENSMUSG00000027405
Domain | Start | End | E-Value | Type |
Pfam:NOP5NT
|
4 |
70 |
3.6e-22 |
PFAM |
NOSIC
|
167 |
219 |
1.18e-30 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000141872
|
SMART Domains |
Protein: ENSMUSP00000125305 Gene: ENSMUSG00000027405
Domain | Start | End | E-Value | Type |
Pfam:NOP5NT
|
14 |
79 |
3.8e-22 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000143547
|
Predicted Effect |
probably null
Transcript: ENSMUST00000146454
AA Change: R142*
|
SMART Domains |
Protein: ENSMUSP00000125304 Gene: ENSMUSG00000027405 AA Change: R142*
Domain | Start | End | E-Value | Type |
Pfam:Nop
|
1 |
152 |
7.8e-66 |
PFAM |
coiled coil region
|
159 |
204 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149955
|
SMART Domains |
Protein: ENSMUSP00000123879 Gene: ENSMUSG00000027405
Domain | Start | End | E-Value | Type |
NOSIC
|
2 |
35 |
1.24e-6 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000150401
AA Change: R93*
|
SMART Domains |
Protein: ENSMUSP00000123890 Gene: ENSMUSG00000027405 AA Change: R93*
Domain | Start | End | E-Value | Type |
Pfam:Nop
|
26 |
103 |
3.9e-26 |
PFAM |
coiled coil region
|
110 |
155 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000159373
AA Change: R81*
|
SMART Domains |
Protein: ENSMUSP00000124080 Gene: ENSMUSG00000027405 AA Change: R81*
Domain | Start | End | E-Value | Type |
Pfam:Nop
|
10 |
94 |
6e-28 |
PFAM |
coiled coil region
|
98 |
135 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184538
|
SMART Domains |
Protein: ENSMUSP00000139331 Gene: ENSMUSG00000027406
Domain | Start | End | E-Value | Type |
Pfam:Iso_dh
|
6 |
71 |
1.8e-15 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nop56p is a yeast nucleolar protein that is part of a complex with the nucleolar proteins Nop58p and fibrillarin. Nop56p is required for assembly of the 60S ribosomal subunit and is involved in pre-rRNA processing. The protein encoded by this gene is similar in sequence to Nop56p and is also found in the nucleolus. Expansion of a GGCCTG repeat from 3-8 copies to 1500-2500 copies in an intron of this gene results in spinocerebellar ataxia 36. Multiple transcript variants encoding several different isoforms have been found for this gene, but the full-length nature of most of them has not been determined. [provided by RefSeq, Jul 2016]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acbd4 |
T |
A |
11: 102,995,364 (GRCm39) |
L90M |
probably damaging |
Het |
Acot7 |
T |
C |
4: 152,262,646 (GRCm39) |
S7P |
unknown |
Het |
Ahcyl2 |
T |
C |
6: 29,908,420 (GRCm39) |
Y388H |
probably damaging |
Het |
Atp1a2 |
T |
A |
1: 172,112,117 (GRCm39) |
R593* |
probably null |
Het |
Bicral |
T |
C |
17: 47,112,594 (GRCm39) |
T869A |
probably benign |
Het |
Brca2 |
C |
T |
5: 150,463,943 (GRCm39) |
P1236S |
probably benign |
Het |
Cacna2d1 |
C |
T |
5: 16,557,666 (GRCm39) |
Q699* |
probably null |
Het |
Ccser2 |
T |
C |
14: 36,661,964 (GRCm39) |
N407D |
probably damaging |
Het |
Cd300lg |
A |
G |
11: 101,933,900 (GRCm39) |
Y49C |
probably damaging |
Het |
Cdh12 |
C |
A |
15: 21,358,900 (GRCm39) |
T108K |
probably damaging |
Het |
Ctnnd1 |
A |
T |
2: 84,440,950 (GRCm39) |
I715K |
possibly damaging |
Het |
Cyp17a1 |
T |
A |
19: 46,659,419 (GRCm39) |
D137V |
probably damaging |
Het |
Dbr1 |
A |
G |
9: 99,458,036 (GRCm39) |
T19A |
probably damaging |
Het |
Dnah3 |
C |
T |
7: 119,629,233 (GRCm39) |
A1441T |
possibly damaging |
Het |
Dpt |
G |
A |
1: 164,624,508 (GRCm39) |
D70N |
probably damaging |
Het |
Elk4 |
C |
A |
1: 131,947,107 (GRCm39) |
P366Q |
probably damaging |
Het |
Eml4 |
A |
C |
17: 83,732,740 (GRCm39) |
D131A |
probably benign |
Het |
Faap24 |
A |
G |
7: 35,092,296 (GRCm39) |
I207T |
possibly damaging |
Het |
Fam219a |
T |
C |
4: 41,521,925 (GRCm39) |
S41G |
probably benign |
Het |
Gask1b |
T |
C |
3: 79,793,855 (GRCm39) |
Y108H |
probably damaging |
Het |
Ifi203 |
T |
C |
1: 173,755,951 (GRCm39) |
|
probably benign |
Het |
Inpp4a |
T |
C |
1: 37,408,504 (GRCm39) |
V295A |
probably benign |
Het |
Kif2a |
A |
G |
13: 107,119,102 (GRCm39) |
Y267H |
probably damaging |
Het |
Kprp |
T |
A |
3: 92,732,504 (GRCm39) |
Q182L |
probably benign |
Het |
Krt90 |
T |
C |
15: 101,465,610 (GRCm39) |
K337R |
possibly damaging |
Het |
Lrp2 |
T |
A |
2: 69,313,372 (GRCm39) |
Y2453F |
possibly damaging |
Het |
Magel2 |
A |
C |
7: 62,029,535 (GRCm39) |
Y813S |
unknown |
Het |
Myh7 |
C |
A |
14: 55,212,101 (GRCm39) |
E1548* |
probably null |
Het |
Myh8 |
A |
G |
11: 67,188,365 (GRCm39) |
T1009A |
probably benign |
Het |
Nab2 |
T |
A |
10: 127,502,377 (GRCm39) |
|
probably benign |
Het |
Neb |
T |
C |
2: 52,186,285 (GRCm39) |
D929G |
possibly damaging |
Het |
Nelfb |
A |
C |
2: 25,100,505 (GRCm39) |
V155G |
probably damaging |
Het |
Nmur1 |
C |
A |
1: 86,315,570 (GRCm39) |
M65I |
possibly damaging |
Het |
Npnt |
C |
T |
3: 132,614,157 (GRCm39) |
C47Y |
probably damaging |
Het |
Nrp1 |
G |
T |
8: 129,207,435 (GRCm39) |
C610F |
probably damaging |
Het |
Or4a71 |
T |
A |
2: 89,357,948 (GRCm39) |
I269F |
probably damaging |
Het |
Or5d45 |
T |
C |
2: 88,153,606 (GRCm39) |
K148E |
probably damaging |
Het |
Or6c63-ps1 |
T |
A |
10: 128,900,544 (GRCm39) |
M1L |
probably benign |
Het |
Pax5 |
G |
A |
4: 44,679,501 (GRCm39) |
Q93* |
probably null |
Het |
Pcnt |
G |
T |
10: 76,239,669 (GRCm39) |
Q1273K |
probably damaging |
Het |
Pde4dip |
G |
A |
3: 97,631,499 (GRCm39) |
Q1137* |
probably null |
Het |
Pfas |
A |
T |
11: 68,881,586 (GRCm39) |
D959E |
probably benign |
Het |
Pira13 |
T |
A |
7: 3,824,261 (GRCm39) |
K629* |
probably null |
Het |
Prex1 |
TCCGACCCC |
TCCGACCCCGACCCC |
2: 166,455,107 (GRCm39) |
|
probably benign |
Het |
Prpf40b |
C |
T |
15: 99,204,281 (GRCm39) |
Q182* |
probably null |
Het |
Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
Rpe65 |
A |
C |
3: 159,328,322 (GRCm39) |
E406A |
probably damaging |
Het |
Serpina3k |
A |
T |
12: 104,307,401 (GRCm39) |
Y211F |
probably benign |
Het |
Shkbp1 |
T |
C |
7: 27,054,706 (GRCm39) |
I65V |
possibly damaging |
Het |
Slc22a29 |
G |
A |
19: 8,137,944 (GRCm39) |
P544S |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,686,701 (GRCm39) |
D2281G |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,110,052 (GRCm39) |
M64T |
probably benign |
Het |
Tnfrsf8 |
C |
T |
4: 145,000,973 (GRCm39) |
V378I |
possibly damaging |
Het |
Trpm1 |
A |
T |
7: 63,876,462 (GRCm39) |
|
probably null |
Het |
Ubqln3 |
A |
G |
7: 103,790,482 (GRCm39) |
I536T |
probably benign |
Het |
Vmn1r44 |
A |
G |
6: 89,870,736 (GRCm39) |
T161A |
possibly damaging |
Het |
Vmn2r108 |
T |
A |
17: 20,691,345 (GRCm39) |
I393F |
possibly damaging |
Het |
|
Other mutations in Nop56 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00834:Nop56
|
APN |
2 |
130,117,915 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL02330:Nop56
|
APN |
2 |
130,118,686 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02939:Nop56
|
APN |
2 |
130,120,117 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03149:Nop56
|
APN |
2 |
130,119,445 (GRCm39) |
missense |
probably damaging |
1.00 |
bookish
|
UTSW |
2 |
130,118,692 (GRCm39) |
missense |
possibly damaging |
0.96 |
escholar
|
UTSW |
2 |
130,119,807 (GRCm39) |
missense |
probably damaging |
1.00 |
messy
|
UTSW |
2 |
130,117,902 (GRCm39) |
missense |
probably damaging |
1.00 |
scholar
|
UTSW |
2 |
130,117,902 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03046:Nop56
|
UTSW |
2 |
130,117,489 (GRCm39) |
unclassified |
probably benign |
|
R0421:Nop56
|
UTSW |
2 |
130,118,692 (GRCm39) |
missense |
possibly damaging |
0.96 |
R1405:Nop56
|
UTSW |
2 |
130,119,868 (GRCm39) |
missense |
probably benign |
0.22 |
R1405:Nop56
|
UTSW |
2 |
130,119,868 (GRCm39) |
missense |
probably benign |
0.22 |
R1713:Nop56
|
UTSW |
2 |
130,119,886 (GRCm39) |
missense |
possibly damaging |
0.85 |
R2202:Nop56
|
UTSW |
2 |
130,119,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R2203:Nop56
|
UTSW |
2 |
130,119,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R2204:Nop56
|
UTSW |
2 |
130,119,488 (GRCm39) |
missense |
probably damaging |
1.00 |
R3697:Nop56
|
UTSW |
2 |
130,119,507 (GRCm39) |
missense |
probably damaging |
1.00 |
R4114:Nop56
|
UTSW |
2 |
130,118,593 (GRCm39) |
splice site |
probably null |
|
R4679:Nop56
|
UTSW |
2 |
130,120,193 (GRCm39) |
missense |
probably benign |
0.36 |
R4788:Nop56
|
UTSW |
2 |
130,120,820 (GRCm39) |
missense |
probably benign |
0.05 |
R4792:Nop56
|
UTSW |
2 |
130,119,784 (GRCm39) |
missense |
possibly damaging |
0.96 |
R4999:Nop56
|
UTSW |
2 |
130,117,645 (GRCm39) |
missense |
probably benign |
0.00 |
R5889:Nop56
|
UTSW |
2 |
130,117,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R6016:Nop56
|
UTSW |
2 |
130,118,545 (GRCm39) |
critical splice donor site |
probably null |
|
R6389:Nop56
|
UTSW |
2 |
130,119,807 (GRCm39) |
missense |
probably damaging |
1.00 |
R7393:Nop56
|
UTSW |
2 |
130,116,558 (GRCm39) |
missense |
probably benign |
0.06 |
R7867:Nop56
|
UTSW |
2 |
130,120,205 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8026:Nop56
|
UTSW |
2 |
130,119,188 (GRCm39) |
missense |
probably benign |
|
R8886:Nop56
|
UTSW |
2 |
130,117,902 (GRCm39) |
missense |
probably damaging |
1.00 |
R9450:Nop56
|
UTSW |
2 |
130,117,601 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGCAGCTTCTACAATGATGG -3'
(R):5'- AGTCTTGCTGGATCAGGCTC -3'
Sequencing Primer
(F):5'- GGTAATATTTTTCGTCAACAGAGTTC -3'
(R):5'- GCTGGATCAGGCTCATTAAATCAG -3'
|
Posted On |
2019-05-13 |