Incidental Mutation 'R6907:Nob1'
| ID |
538823 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nob1
|
| Ensembl Gene |
ENSMUSG00000003848 |
| Gene Name |
NIN1/RPN12 binding protein 1 homolog |
| Synonyms |
1700021I09Rik, ART-4, Nob1p, Psmd8bp1 |
| MMRRC Submission |
044999-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.963)
|
| Stock # |
R6907 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
108139121-108151670 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 108142860 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 274
(V274M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003946
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003946]
[ENSMUST00000169311]
|
| AlphaFold |
Q8BW10 |
| PDB Structure |
Solution Structure of RSGI RUH-035, a Zn-ribbon module in Mouse cDNA [SOLUTION NMR]
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003946
AA Change: V274M
PolyPhen 2
Score 0.896 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000003946
Gene: ENSMUSG00000003848
AA Change: V274M
| Domain | Start | End | E-Value | Type |
|---|
|
PINc
|
5 |
108 |
2.28e-6 |
SMART |
|
Pfam:AF1Q
|
135 |
211 |
1.8e-30 |
PFAM |
|
Pfam:NOB1_Zn_bind
|
251 |
323 |
1e-34 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165266
|
| SMART Domains |
Protein: ENSMUSP00000129298
Gene: ENSMUSG00000003848
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PINc
|
5 |
61 |
9e-34 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169311
AA Change: S141N
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000126868
Gene: ENSMUSG00000003848
AA Change: S141N
| Domain | Start | End | E-Value | Type |
|---|
|
PINc
|
5 |
108 |
2.28e-6 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In yeast, over 200 protein and RNA cofactors are required for ribosome assembly, and these are generally conserved in eukaryotes. These factors orchestrate modification and cleavage of the initial 35S precursor rRNA transcript into the mature 18S, 5.8S, and 25S rRNAs, folding of the rRNA, and binding of ribosomal proteins and 5S RNA. Nob1 is involved in pre-rRNA processing. In a late cytoplasmic processing step, Nob1 cleaves a 20S rRNA intermediate at cleavage site D to produce the mature 18S rRNA (Lamanna and Karbstein, 2009 [PubMed 19706509]).[supplied by OMIM, Nov 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
T |
C |
8: 112,698,793 (GRCm39) |
I344V |
probably benign |
Het |
| Bmper |
A |
T |
9: 23,310,868 (GRCm39) |
Q434L |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,969 (GRCm39) |
Y152C |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,159,278 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,599,505 (GRCm39) |
D238G |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,671,671 (GRCm39) |
T598A |
possibly damaging |
Het |
| Ctr9 |
C |
T |
7: 110,629,449 (GRCm39) |
P25L |
probably damaging |
Het |
| Entpd5 |
T |
C |
12: 84,424,127 (GRCm39) |
T409A |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,363,957 (GRCm39) |
V137A |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,443 (GRCm39) |
G168R |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,683,067 (GRCm39) |
N248S |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,939,888 (GRCm39) |
Y1561N |
probably damaging |
Het |
| Mef2c |
A |
G |
13: 83,802,730 (GRCm39) |
D227G |
probably benign |
Het |
| Myh2 |
C |
T |
11: 67,084,567 (GRCm39) |
T1702M |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,437 (GRCm39) |
N263K |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,636 (GRCm39) |
L373P |
probably damaging |
Het |
| Ntng2 |
A |
G |
2: 29,118,218 (GRCm39) |
C77R |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or10ad1c |
T |
C |
15: 98,085,649 (GRCm39) |
N10D |
probably damaging |
Het |
| Or5p55 |
T |
C |
7: 107,567,459 (GRCm39) |
L285P |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,876,471 (GRCm39) |
W9R |
possibly damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,064,124 (GRCm39) |
T263A |
probably benign |
Het |
| Per3 |
C |
T |
4: 151,128,015 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
A |
G |
8: 125,107,021 (GRCm39) |
F265L |
probably damaging |
Het |
| Ppm1k |
T |
G |
6: 57,487,755 (GRCm39) |
E356A |
probably benign |
Het |
| Ptgfr |
G |
T |
3: 151,540,938 (GRCm39) |
T190K |
possibly damaging |
Het |
| Sec24a |
A |
G |
11: 51,603,103 (GRCm39) |
Y782H |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,301,295 (GRCm39) |
|
probably benign |
Het |
| Sfpq |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC |
GCCGCCGCAGCAGCC |
4: 126,915,419 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,090,323 (GRCm39) |
T253I |
possibly damaging |
Het |
| Tcf4 |
C |
T |
18: 69,785,484 (GRCm39) |
T207M |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,700,897 (GRCm39) |
N1203S |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,304,917 (GRCm39) |
S5T |
probably damaging |
Het |
| Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,655,751 (GRCm39) |
S38P |
probably benign |
Het |
| Vrk1 |
G |
T |
12: 106,041,291 (GRCm39) |
Q395H |
possibly damaging |
Het |
| Vwa3a |
G |
T |
7: 120,391,804 (GRCm39) |
|
probably benign |
Het |
| Wdsub1 |
C |
T |
2: 59,692,028 (GRCm39) |
V335I |
possibly damaging |
Het |
|
| Other mutations in Nob1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01434:Nob1
|
APN |
8 |
108,151,360 (GRCm39) |
splice site |
probably benign |
|
|
IGL01661:Nob1
|
APN |
8 |
108,139,814 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02110:Nob1
|
APN |
8 |
108,142,804 (GRCm39) |
makesense |
probably null |
|
|
IGL03373:Nob1
|
APN |
8 |
108,144,678 (GRCm39) |
intron |
probably benign |
|
|
PIT4531001:Nob1
|
UTSW |
8 |
108,145,049 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0627:Nob1
|
UTSW |
8 |
108,142,856 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1181:Nob1
|
UTSW |
8 |
108,148,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1264:Nob1
|
UTSW |
8 |
108,148,136 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2257:Nob1
|
UTSW |
8 |
108,143,729 (GRCm39) |
intron |
probably benign |
|
|
R4402:Nob1
|
UTSW |
8 |
108,145,120 (GRCm39) |
intron |
probably benign |
|
|
R5330:Nob1
|
UTSW |
8 |
108,142,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7702:Nob1
|
UTSW |
8 |
108,139,737 (GRCm39) |
nonsense |
probably null |
|
|
R8412:Nob1
|
UTSW |
8 |
108,148,230 (GRCm39) |
nonsense |
probably null |
|
|
R9119:Nob1
|
UTSW |
8 |
108,142,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0017:Nob1
|
UTSW |
8 |
108,151,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCCCAGTTCTCTCAAGTTAG -3'
(R):5'- GGGGTATTTGGCACAGGACATG -3'
Sequencing Primer
(F):5'- CCAGTTCTCTCAAGTTAGGGGTTC -3'
(R):5'- TGGCCACGGTCTGACATC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation