Incidental Mutation 'R5585:Rrp9'
| ID |
438662 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp9
|
| Ensembl Gene |
ENSMUSG00000041506 |
| Gene Name |
ribosomal RNA processing 9, U3 small nucleolar RNA binding protein |
| Synonyms |
Rnu3ip2, D9Wsu10e, 55kDa, U3-55k |
| MMRRC Submission |
043139-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.967)
|
| Stock # |
R5585 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
106354508-106362614 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 106362525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Phenylalanine
at position 470
(S470F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038580
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047721]
[ENSMUST00000185336]
|
| AlphaFold |
Q91WM3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047721
AA Change: S470F
PolyPhen 2
Score 0.352 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000038580
Gene: ENSMUSG00000041506
AA Change: S470F
| 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 |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.3%
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1600014C23Rik |
A |
T |
17: 46,044,670 (GRCm39) |
I17N |
unknown |
Het |
| 4932414N04Rik |
A |
G |
2: 68,571,770 (GRCm39) |
T549A |
probably benign |
Het |
| 9330159F19Rik |
C |
A |
10: 29,101,271 (GRCm39) |
S548Y |
possibly damaging |
Het |
| Aanat |
A |
G |
11: 116,487,799 (GRCm39) |
Y166C |
probably damaging |
Het |
| Adra2a |
G |
T |
19: 54,034,670 (GRCm39) |
A9S |
probably benign |
Het |
| Ap4m1 |
A |
G |
5: 138,170,502 (GRCm39) |
Y17C |
probably damaging |
Het |
| Arhgap33 |
T |
G |
7: 30,223,260 (GRCm39) |
M891L |
probably benign |
Het |
| Calm5 |
A |
G |
13: 3,904,372 (GRCm39) |
D22G |
possibly damaging |
Het |
| Ccdc15 |
C |
T |
9: 37,188,699 (GRCm39) |
R795H |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,989,767 (GRCm39) |
I323F |
probably damaging |
Het |
| Cyp26b1 |
A |
G |
6: 84,554,171 (GRCm39) |
F74L |
probably damaging |
Het |
| Dpagt1 |
G |
A |
9: 44,240,439 (GRCm39) |
|
probably null |
Het |
| Ercc8 |
C |
T |
13: 108,312,123 (GRCm39) |
P196S |
probably damaging |
Het |
| Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
| Hfm1 |
G |
A |
5: 107,059,305 (GRCm39) |
S239L |
probably benign |
Het |
| Hgf |
A |
G |
5: 16,769,799 (GRCm39) |
D91G |
possibly damaging |
Het |
| Lefty2 |
T |
A |
1: 180,720,828 (GRCm39) |
V27D |
possibly damaging |
Het |
| Lrp2 |
G |
A |
2: 69,294,968 (GRCm39) |
T3450I |
possibly damaging |
Het |
| Lrrc38 |
A |
G |
4: 143,076,961 (GRCm39) |
I75V |
probably damaging |
Het |
| Ncor2 |
C |
A |
5: 125,144,975 (GRCm39) |
E556* |
probably null |
Het |
| Nedd9 |
A |
G |
13: 41,469,950 (GRCm39) |
L401P |
probably damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,064,212 (GRCm39) |
L163P |
probably damaging |
Het |
| Nln |
T |
C |
13: 104,161,569 (GRCm39) |
N667S |
possibly damaging |
Het |
| Or5w20 |
A |
G |
2: 87,727,019 (GRCm39) |
T159A |
possibly damaging |
Het |
| Pnpla8 |
T |
C |
12: 44,329,847 (GRCm39) |
I133T |
probably benign |
Het |
| Psma1 |
C |
T |
7: 113,873,302 (GRCm39) |
G12S |
probably damaging |
Het |
| Psmd3 |
G |
A |
11: 98,573,707 (GRCm39) |
G51D |
possibly damaging |
Het |
| Ptprb |
A |
G |
10: 116,216,759 (GRCm39) |
Q1959R |
probably damaging |
Het |
| Rhbdf1 |
A |
G |
11: 32,160,222 (GRCm39) |
|
probably null |
Het |
| Rnf167 |
T |
C |
11: 70,540,308 (GRCm39) |
V110A |
probably damaging |
Het |
| Rtn3 |
G |
A |
19: 7,435,560 (GRCm39) |
P125L |
probably benign |
Het |
| Scube1 |
C |
T |
15: 83,561,124 (GRCm39) |
C156Y |
probably damaging |
Het |
| Tgm2 |
A |
T |
2: 157,973,375 (GRCm39) |
Y245* |
probably null |
Het |
| Timeless |
T |
C |
10: 128,076,112 (GRCm39) |
I68T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,645,054 (GRCm39) |
S12934P |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,413,428 (GRCm39) |
Y214* |
probably null |
Het |
| Yars2 |
T |
A |
16: 16,122,484 (GRCm39) |
N7K |
probably damaging |
Het |
| Zfp142 |
G |
A |
1: 74,617,404 (GRCm39) |
Q150* |
probably null |
Het |
| Zfp995 |
C |
T |
17: 22,106,339 (GRCm39) |
|
probably benign |
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 |
|
|
IGL02581:Rrp9
|
APN |
9 |
106,360,827 (GRCm39) |
missense |
probably damaging |
1.00 |
|
P0005:Rrp9
|
UTSW |
9 |
106,358,376 (GRCm39) |
missense |
probably benign |
|
|
R1757:Rrp9
|
UTSW |
9 |
106,360,203 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACAGCCTCAAGTTCTCCAGTG -3'
(R):5'- AGCTAGCTAGAGTCCTGTCC -3'
Sequencing Primer
(F):5'- CCAGTGCTGGGGACTTCTTG -3'
(R):5'- AGAGTCCTGTCCCTCCCAG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation