Incidental Mutation 'R0584:Nop58'
| ID |
56545 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nop58
|
| Ensembl Gene |
ENSMUSG00000026020 |
| Gene Name |
NOP58 ribonucleoprotein |
| Synonyms |
SIK similar protein, MSSP, Nol5 |
| MMRRC Submission |
038774-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
R0584 (G1)
|
| Quality Score |
132 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
59724134-59750669 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 59745919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 400
(D400G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140250
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027174]
[ENSMUST00000191142]
[ENSMUST00000190265]
|
| AlphaFold |
Q6DFW4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027174
AA Change: D400G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027174
Gene: ENSMUSG00000026020
AA Change: D400G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NOP5NT
|
2 |
66 |
1.1e-25 |
PFAM |
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
NOSIC
|
161 |
213 |
2.68e-29 |
SMART |
|
low complexity region
|
218 |
239 |
N/A |
INTRINSIC |
|
coiled coil region
|
441 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158468
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158887
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185368
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187837
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000188390
AA Change: D111G
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000191142
AA Change: D400G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140250
Gene: ENSMUSG00000026020
AA Change: D400G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NOP5NT
|
1 |
66 |
3.2e-26 |
PFAM |
|
low complexity region
|
67 |
81 |
N/A |
INTRINSIC |
|
NOSIC
|
161 |
213 |
2.68e-29 |
SMART |
|
low complexity region
|
218 |
239 |
N/A |
INTRINSIC |
|
Pfam:Nop
|
253 |
401 |
2.7e-63 |
PFAM |
|
coiled coil region
|
441 |
491 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000189919
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190265
|
| SMART Domains |
Protein: ENSMUSP00000141100
Gene: ENSMUSG00000026020
| Domain | Start | End | E-Value | Type |
|---|
|
NOSIC
|
31 |
83 |
2.1e-33 |
SMART |
|
low complexity region
|
88 |
109 |
N/A |
INTRINSIC |
|
Pfam:Nop
|
123 |
179 |
5.8e-17 |
PFAM |
|
| Meta Mutation Damage Score |
0.0688 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 93.7%
|
| Validation Efficiency |
98% (47/48) |
| 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 a core component of box C/D small nucleolar ribonucleoproteins. Some box C/D small nucleolar RNAs (snoRNAs), such as U3, U8, and U14, are dependent upon the encoded protein for their synthesis. This protein is SUMOylated, which is necessary for high affinity binding to snoRNAs. [provided by RefSeq, Nov 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
T |
C |
10: 79,847,564 (GRCm39) |
S1745P |
probably damaging |
Het |
| Agfg2 |
G |
A |
5: 137,665,992 (GRCm39) |
T89I |
probably damaging |
Het |
| Agtr1a |
A |
G |
13: 30,565,017 (GRCm39) |
I27M |
probably damaging |
Het |
| Armh1 |
A |
T |
4: 117,087,047 (GRCm39) |
L206Q |
probably damaging |
Het |
| Asxl2 |
A |
T |
12: 3,546,632 (GRCm39) |
E472V |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,465,157 (GRCm39) |
V313E |
probably benign |
Het |
| Casp12 |
A |
G |
9: 5,352,268 (GRCm39) |
I87V |
probably null |
Het |
| Ccl25 |
C |
T |
8: 4,404,085 (GRCm39) |
|
probably benign |
Het |
| Col9a1 |
T |
C |
1: 24,263,571 (GRCm39) |
|
probably benign |
Het |
| Cyth4 |
A |
G |
15: 78,494,078 (GRCm39) |
|
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,881,315 (GRCm39) |
Y2587H |
probably damaging |
Het |
| Dppa3 |
T |
C |
6: 122,606,951 (GRCm39) |
I147T |
probably benign |
Het |
| Fam120b |
T |
C |
17: 15,622,384 (GRCm39) |
S121P |
probably damaging |
Het |
| Fam209 |
C |
T |
2: 172,316,081 (GRCm39) |
T152M |
probably benign |
Het |
| Fam98a |
A |
G |
17: 75,851,772 (GRCm39) |
L103P |
probably damaging |
Het |
| Fcho1 |
T |
C |
8: 72,168,369 (GRCm39) |
Y218C |
probably damaging |
Het |
| Fitm1 |
T |
C |
14: 55,814,113 (GRCm39) |
V203A |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,733,074 (GRCm39) |
R1037Q |
probably damaging |
Het |
| Gm11563 |
A |
G |
11: 99,549,451 (GRCm39) |
I101T |
unknown |
Het |
| Gpd1l |
A |
G |
9: 114,743,412 (GRCm39) |
F163L |
probably damaging |
Het |
| Grp |
C |
A |
18: 66,006,766 (GRCm39) |
A30E |
possibly damaging |
Het |
| H1f7 |
C |
A |
15: 98,154,958 (GRCm39) |
E64* |
probably null |
Het |
| Icosl |
T |
C |
10: 77,907,709 (GRCm39) |
Y90H |
possibly damaging |
Het |
| Itsn2 |
A |
G |
12: 4,747,180 (GRCm39) |
T1194A |
probably benign |
Het |
| Lrp6 |
A |
G |
6: 134,433,039 (GRCm39) |
S1431P |
probably damaging |
Het |
| Ltbp1 |
T |
C |
17: 75,670,467 (GRCm39) |
S1503P |
probably damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Myh13 |
G |
T |
11: 67,251,200 (GRCm39) |
E1360* |
probably null |
Het |
| Or5p79 |
T |
C |
7: 108,221,622 (GRCm39) |
L201P |
probably benign |
Het |
| Or6c205 |
T |
C |
10: 129,086,817 (GRCm39) |
V138A |
probably benign |
Het |
| Oscp1 |
A |
G |
4: 125,977,387 (GRCm39) |
|
probably null |
Het |
| Pde9a |
A |
T |
17: 31,678,951 (GRCm39) |
Y264F |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,309,660 (GRCm39) |
K2763* |
probably null |
Het |
| Prkci |
T |
A |
3: 31,079,289 (GRCm39) |
C42* |
probably null |
Het |
| Ptprr |
T |
C |
10: 116,087,063 (GRCm39) |
V270A |
probably damaging |
Het |
| Rsf1 |
T |
A |
7: 97,311,335 (GRCm39) |
N688K |
possibly damaging |
Het |
| S1pr3 |
A |
T |
13: 51,573,697 (GRCm39) |
M293L |
probably benign |
Het |
| Scn10a |
A |
C |
9: 119,499,597 (GRCm39) |
L232R |
probably damaging |
Het |
| Sirt5 |
T |
A |
13: 43,548,204 (GRCm39) |
|
probably null |
Het |
| Sp6 |
C |
T |
11: 96,913,091 (GRCm39) |
T268M |
probably damaging |
Het |
| Spag5 |
A |
G |
11: 78,194,921 (GRCm39) |
N76S |
possibly damaging |
Het |
| Tecta |
T |
C |
9: 42,259,204 (GRCm39) |
N1560D |
possibly damaging |
Het |
| Togaram1 |
T |
C |
12: 65,014,279 (GRCm39) |
L510P |
probably damaging |
Het |
| Umps |
A |
G |
16: 33,779,494 (GRCm39) |
I401T |
probably damaging |
Het |
| Vars2 |
A |
G |
17: 35,977,578 (GRCm39) |
V118A |
possibly damaging |
Het |
|
| Other mutations in Nop58 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01994:Nop58
|
APN |
1 |
59,743,242 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1170:Nop58
|
UTSW |
1 |
59,743,370 (GRCm39) |
splice site |
probably benign |
|
|
R1177:Nop58
|
UTSW |
1 |
59,740,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1485:Nop58
|
UTSW |
1 |
59,737,504 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1588:Nop58
|
UTSW |
1 |
59,742,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4715:Nop58
|
UTSW |
1 |
59,735,185 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5611:Nop58
|
UTSW |
1 |
59,749,672 (GRCm39) |
unclassified |
probably benign |
|
|
R5933:Nop58
|
UTSW |
1 |
59,743,824 (GRCm39) |
nonsense |
probably null |
|
|
R5979:Nop58
|
UTSW |
1 |
59,741,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6010:Nop58
|
UTSW |
1 |
59,740,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6244:Nop58
|
UTSW |
1 |
59,742,014 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6371:Nop58
|
UTSW |
1 |
59,750,471 (GRCm39) |
unclassified |
probably benign |
|
|
R7210:Nop58
|
UTSW |
1 |
59,749,539 (GRCm39) |
splice site |
probably null |
|
|
R7337:Nop58
|
UTSW |
1 |
59,737,599 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7582:Nop58
|
UTSW |
1 |
59,740,097 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7704:Nop58
|
UTSW |
1 |
59,744,754 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8931:Nop58
|
UTSW |
1 |
59,731,549 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGAAAAGAATCAATGCTGCCTCTCAT -3'
(R):5'- GTCCATACTGCTGTGTCTCAAGTTTACA -3'
Sequencing Primer
(F):5'- GAATCAATGCTGCCTCTCATTTTATG -3'
(R):5'- GTAACACATCTTCTACTGCATATAGC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation