Incidental Mutation 'IGL02581:Rrp9'
| ID |
299343 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rrp9
|
| Ensembl Gene |
ENSMUSG00000041506 |
| Gene Name |
ribosomal RNA processing 9, U3 small nucleolar RNA binding protein |
| Synonyms |
Rnu3ip2, D9Wsu10e, 55kDa, U3-55k |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.966)
|
| Stock # |
IGL02581
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
106354508-106362614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106360827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 269
(N269K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047721]
[ENSMUST00000185336]
|
| AlphaFold |
Q91WM3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000047721
AA Change: N269K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506
AA Change: N269K
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
30 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
57 |
N/A |
INTRINSIC |
|
coiled coil region
|
61 |
102 |
N/A |
INTRINSIC |
|
WD40
|
135 |
174 |
1.15e-4 |
SMART |
|
WD40
|
177 |
227 |
3.09e-5 |
SMART |
|
WD40
|
230 |
269 |
2.42e-7 |
SMART |
|
WD40
|
272 |
311 |
9.24e-4 |
SMART |
|
WD40
|
313 |
351 |
2.4e-2 |
SMART |
|
WD40
|
354 |
404 |
4.6e0 |
SMART |
|
Blast:WD40
|
412 |
451 |
1e-15 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123464
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125630
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131618
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156796
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185336
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217303
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the WD-repeat protein family. The encoded protein is a component of the nucleolar small nuclear ribonucleoprotein particle (snoRNP) and is essential for 18s rRNA processing during ribosome synthesis. It contains seven WD domains required for nucleolar localization and specific interaction with the U3 small nucleolar RNA (U3 snoRNA). [provided by RefSeq, Oct 2012]
|
| Allele List at MGI |
All alleles(3) : Targeted(1) Gene trapped(2)
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700034H15Rik |
A |
G |
1: 191,635,652 (GRCm39) |
|
probably benign |
Het |
| Abca13 |
C |
T |
11: 9,349,132 (GRCm39) |
|
probably benign |
Het |
| Aga |
T |
C |
8: 53,974,079 (GRCm39) |
|
probably benign |
Het |
| Atp2a3 |
C |
A |
11: 72,866,165 (GRCm39) |
H262N |
probably benign |
Het |
| C1rl |
T |
C |
6: 124,470,113 (GRCm39) |
S2P |
possibly damaging |
Het |
| Cstdc5 |
T |
C |
16: 36,179,860 (GRCm39) |
T86A |
probably damaging |
Het |
| Dgkd |
T |
C |
1: 87,845,724 (GRCm39) |
|
probably benign |
Het |
| Dnajb11 |
A |
G |
16: 22,689,768 (GRCm39) |
N311D |
probably benign |
Het |
| Flg2 |
A |
C |
3: 93,127,199 (GRCm39) |
Q2037P |
unknown |
Het |
| Glyctk |
T |
C |
9: 106,034,980 (GRCm39) |
T29A |
probably benign |
Het |
| Gtf3c1 |
C |
A |
7: 125,245,687 (GRCm39) |
R1672L |
possibly damaging |
Het |
| Hps3 |
A |
T |
3: 20,057,385 (GRCm39) |
|
probably benign |
Het |
| Kcnh3 |
G |
T |
15: 99,136,052 (GRCm39) |
C683F |
possibly damaging |
Het |
| Lmtk2 |
T |
G |
5: 144,085,166 (GRCm39) |
F213V |
probably damaging |
Het |
| Malrd1 |
C |
A |
2: 16,147,123 (GRCm39) |
C1988* |
probably null |
Het |
| Map3k11 |
T |
A |
19: 5,750,834 (GRCm39) |
M684K |
probably benign |
Het |
| Oga |
T |
A |
19: 45,740,630 (GRCm39) |
M902L |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhh1 |
T |
C |
12: 79,125,882 (GRCm39) |
|
probably null |
Het |
| Rev3l |
C |
A |
10: 39,697,277 (GRCm39) |
N591K |
probably benign |
Het |
| Sec14l4 |
T |
C |
11: 3,989,941 (GRCm39) |
I80T |
possibly damaging |
Het |
| Srpra |
G |
A |
9: 35,126,328 (GRCm39) |
|
probably null |
Het |
| Tmc8 |
G |
A |
11: 117,674,714 (GRCm39) |
R143H |
probably benign |
Het |
| Trank1 |
T |
C |
9: 111,212,193 (GRCm39) |
I1777T |
probably benign |
Het |
| Trim17 |
C |
A |
11: 58,861,902 (GRCm39) |
Y311* |
probably null |
Het |
| Vps13a |
C |
T |
19: 16,632,686 (GRCm39) |
A2557T |
probably benign |
Het |
| Vps53 |
T |
G |
11: 75,992,883 (GRCm39) |
N106T |
probably damaging |
Het |
|
| Other mutations in Rrp9 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02383:Rrp9
|
APN |
9 |
106,362,471 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02540:Rrp9
|
APN |
9 |
106,360,746 (GRCm39) |
unclassified |
probably benign |
|
|
P0005:Rrp9
|
UTSW |
9 |
106,358,376 (GRCm39) |
missense |
probably benign |
|
|
R1757:Rrp9
|
UTSW |
9 |
106,360,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5585:Rrp9
|
UTSW |
9 |
106,362,525 (GRCm39) |
missense |
probably benign |
0.35 |
|
R6135:Rrp9
|
UTSW |
9 |
106,360,221 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6437:Rrp9
|
UTSW |
9 |
106,360,150 (GRCm39) |
missense |
probably benign |
0.34 |
|
R6575:Rrp9
|
UTSW |
9 |
106,360,778 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7878:Rrp9
|
UTSW |
9 |
106,358,516 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8732:Rrp9
|
UTSW |
9 |
106,360,388 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8745:Rrp9
|
UTSW |
9 |
106,361,657 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9454:Rrp9
|
UTSW |
9 |
106,360,840 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
Z1177:Rrp9
|
UTSW |
9 |
106,360,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation