Incidental Mutation 'IGL03046:Nop56'
| ID |
391840 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop56
|
| Ensembl Gene |
ENSMUSG00000027405 |
| Gene Name |
NOP56 ribonucleoprotein |
| Synonyms |
NOP56, 56kDa with KKE/D repeat, Nol5a, 2310044F10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
IGL03046 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
130116350-130121233 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 130117489 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139331
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028890]
[ENSMUST00000028892]
[ENSMUST00000103198]
[ENSMUST00000136621]
[ENSMUST00000159373]
[ENSMUST00000184538]
|
| AlphaFold |
Q9D6Z1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028890
|
| SMART Domains |
Protein: ENSMUSP00000028890
Gene: ENSMUSG00000027405
| 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 |
noncoding transcript
Transcript: ENSMUST00000083338
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000083355
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000103198
|
| SMART Domains |
Protein: ENSMUSP00000099487
Gene: ENSMUSG00000027405
| 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 |
noncoding transcript
Transcript: ENSMUST00000116960
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160976
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153353
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150745
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160183
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133351
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145335
|
| 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: ENSMUST00000159373
|
| SMART Domains |
Protein: ENSMUSP00000124080
Gene: ENSMUSG00000027405
| 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: ENSMUST00000150401
|
| SMART Domains |
Protein: ENSMUSP00000123890
Gene: ENSMUSG00000027405
| 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 benign
Transcript: ENSMUST00000146454
|
| SMART Domains |
Protein: ENSMUSP00000125304
Gene: ENSMUSG00000027405
| 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 benign
Transcript: ENSMUST00000143547
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161025
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161543
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162063
|
| 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: 0.0%
- 3x: 0.0%
- 10x: 0.0%
- 20x: 0.0%
|
| Validation Efficiency |
98% (54/55) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,636,282 (GRCm39) |
M717K |
probably benign |
Het |
| Acad12 |
C |
A |
5: 121,748,029 (GRCm39) |
V130L |
probably benign |
Het |
| Cdca2 |
T |
C |
14: 67,937,471 (GRCm39) |
|
probably benign |
Het |
| Cfap100 |
T |
A |
6: 90,389,332 (GRCm39) |
|
probably null |
Het |
| Cfap43 |
T |
A |
19: 47,804,302 (GRCm39) |
E298V |
probably damaging |
Het |
| Cic |
C |
T |
7: 24,990,500 (GRCm39) |
P1971S |
probably damaging |
Het |
| Cnga1 |
T |
C |
5: 72,761,681 (GRCm39) |
D611G |
probably benign |
Het |
| Daglb |
C |
T |
5: 143,486,948 (GRCm39) |
P522L |
probably damaging |
Het |
| Dclre1b |
A |
T |
3: 103,710,597 (GRCm39) |
I438K |
probably benign |
Het |
| Ddx5 |
C |
A |
11: 106,675,871 (GRCm39) |
R273M |
probably damaging |
Het |
| Eepd1 |
C |
T |
9: 25,393,981 (GRCm39) |
L82F |
probably damaging |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Exoc6 |
T |
C |
19: 37,582,217 (GRCm39) |
|
probably null |
Het |
| Fcna |
G |
C |
2: 25,520,693 (GRCm39) |
|
probably benign |
Het |
| Foxs1 |
T |
C |
2: 152,774,484 (GRCm39) |
T190A |
probably benign |
Het |
| Gje1 |
A |
G |
10: 14,592,374 (GRCm39) |
L136P |
probably damaging |
Het |
| Hdac11 |
A |
G |
6: 91,145,827 (GRCm39) |
T176A |
probably benign |
Het |
| Hhip |
C |
A |
8: 80,698,967 (GRCm39) |
V700L |
probably damaging |
Het |
| Hps5 |
T |
C |
7: 46,426,463 (GRCm39) |
|
probably benign |
Het |
| Itgb1bp1 |
T |
C |
12: 21,329,436 (GRCm39) |
S13G |
unknown |
Het |
| Kcna1 |
A |
T |
6: 126,619,148 (GRCm39) |
L391M |
possibly damaging |
Het |
| Kif1a |
C |
T |
1: 93,010,128 (GRCm39) |
V6M |
probably damaging |
Het |
| Klhl6 |
T |
C |
16: 19,801,639 (GRCm39) |
I39V |
probably benign |
Het |
| Lpcat4 |
C |
A |
2: 112,072,334 (GRCm39) |
|
silent |
Het |
| Ltn1 |
A |
T |
16: 87,202,509 (GRCm39) |
S1047R |
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,694,495 (GRCm39) |
T1073A |
possibly damaging |
Het |
| Megf10 |
G |
T |
18: 57,421,055 (GRCm39) |
A898S |
possibly damaging |
Het |
| Mtmr6 |
T |
C |
14: 60,529,577 (GRCm39) |
|
probably null |
Het |
| Mtnr1b |
T |
C |
9: 15,774,059 (GRCm39) |
I333M |
probably benign |
Het |
| Muc5ac |
G |
T |
7: 141,348,950 (GRCm39) |
C463F |
probably benign |
Het |
| Mycbpap |
G |
T |
11: 94,396,543 (GRCm39) |
T99N |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,728,534 (GRCm39) |
C824Y |
probably damaging |
Het |
| N4bp2 |
A |
G |
5: 65,948,303 (GRCm39) |
H311R |
probably damaging |
Het |
| Nepro |
T |
A |
16: 44,552,509 (GRCm39) |
|
probably benign |
Het |
| Nup210 |
A |
G |
6: 90,995,978 (GRCm39) |
|
probably benign |
Het |
| Or4d10c |
A |
G |
19: 12,065,391 (GRCm39) |
V255A |
probably damaging |
Het |
| Or7g25 |
T |
A |
9: 19,160,441 (GRCm39) |
I85F |
probably damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Pgap6 |
A |
T |
17: 26,338,414 (GRCm39) |
|
probably null |
Het |
| Pkhd1 |
T |
G |
1: 20,607,589 (GRCm39) |
D1089A |
possibly damaging |
Het |
| Plb1 |
A |
G |
5: 32,485,756 (GRCm39) |
R847G |
probably damaging |
Het |
| Pou6f2 |
A |
G |
13: 18,303,612 (GRCm39) |
|
probably benign |
Het |
| Prss43 |
C |
G |
9: 110,660,049 (GRCm39) |
S371C |
probably benign |
Het |
| Ralgapa1 |
A |
T |
12: 55,741,942 (GRCm39) |
V1322D |
probably damaging |
Het |
| Rrp8 |
A |
G |
7: 105,384,109 (GRCm39) |
V131A |
probably benign |
Het |
| Rtp1 |
A |
T |
16: 23,248,044 (GRCm39) |
K39M |
probably benign |
Het |
| Sanbr |
A |
T |
11: 23,565,150 (GRCm39) |
L279Q |
possibly damaging |
Het |
| Slc1a6 |
A |
G |
10: 78,636,008 (GRCm39) |
I358V |
probably benign |
Het |
| Slc25a15 |
T |
C |
8: 22,885,726 (GRCm39) |
|
probably benign |
Het |
| Slc43a1 |
G |
A |
2: 84,684,897 (GRCm39) |
|
probably benign |
Het |
| Speer4c1 |
A |
C |
5: 15,919,214 (GRCm39) |
|
probably benign |
Het |
| Spock3 |
T |
G |
8: 63,802,018 (GRCm39) |
|
probably null |
Het |
| Tbc1d7 |
T |
C |
13: 43,308,162 (GRCm39) |
|
probably null |
Het |
| Tmem184c |
C |
T |
8: 78,326,286 (GRCm39) |
W260* |
probably null |
Het |
| Trnau1ap |
A |
G |
4: 132,039,252 (GRCm39) |
Y265H |
probably damaging |
Het |
| Usp25 |
T |
C |
16: 76,871,754 (GRCm39) |
F363S |
probably damaging |
Het |
| Vcl |
T |
C |
14: 21,072,085 (GRCm39) |
F817L |
possibly damaging |
Het |
| Vmn1r13 |
T |
A |
6: 57,187,717 (GRCm39) |
M292K |
probably benign |
Het |
| Xpc |
G |
T |
6: 91,487,463 (GRCm39) |
A89E |
probably 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 |
|
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 |
|
R7025:Nop56
|
UTSW |
2 |
130,119,801 (GRCm39) |
nonsense |
probably null |
|
|
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'- ATTTGAGACCTACAGGATGGC -3'
(R):5'- TGTATTGCAGCACCAATCTTG -3'
Sequencing Primer
(F):5'- TTAAGAGCGCGACTGCTCTTACAG -3'
(R):5'- GAACAACACCTTTGGGAC -3'
|
| Posted On |
2016-06-07 |
Incidental Mutation