Incidental Mutation 'R1085:Rrp36'
| ID |
85000 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp36
|
| Ensembl Gene |
ENSMUSG00000023971 |
| Gene Name |
ribosomal RNA processing 36 |
| Synonyms |
BC011248 |
| MMRRC Submission |
039171-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R1085 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
17 |
| Chromosomal Location |
46977249-46985252 bp(-) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 46978878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 227
(*227Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024766]
[ENSMUST00000043464]
[ENSMUST00000133393]
[ENSMUST00000145567]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024766
AA Change: *227Q
|
| SMART Domains |
Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971
AA Change: *227Q
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF947
|
55 |
219 |
7.6e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043464
|
| SMART Domains |
Protein: ENSMUSP00000049128
Gene: ENSMUSG00000038545
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
315 |
324 |
N/A |
INTRINSIC |
|
Pfam:Cul7
|
349 |
423 |
5.7e-34 |
PFAM |
|
low complexity region
|
462 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
603 |
618 |
N/A |
INTRINSIC |
|
low complexity region
|
635 |
648 |
N/A |
INTRINSIC |
|
APC10
|
811 |
973 |
9.35e-49 |
SMART |
|
low complexity region
|
983 |
993 |
N/A |
INTRINSIC |
|
low complexity region
|
1063 |
1074 |
N/A |
INTRINSIC |
|
low complexity region
|
1301 |
1318 |
N/A |
INTRINSIC |
|
low complexity region
|
1335 |
1370 |
N/A |
INTRINSIC |
|
Blast:Cullin_Nedd8
|
1550 |
1633 |
1e-41 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125949
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133393
|
| SMART Domains |
Protein: ENSMUSP00000119393
Gene: ENSMUSG00000038545
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
26 |
N/A |
INTRINSIC |
|
Pfam:Cul7
|
51 |
126 |
8e-34 |
PFAM |
|
low complexity region
|
164 |
178 |
N/A |
INTRINSIC |
|
low complexity region
|
305 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
350 |
N/A |
INTRINSIC |
|
SCOP:d1gqpa_
|
487 |
568 |
1e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145567
|
| SMART Domains |
Protein: ENSMUSP00000116133
Gene: ENSMUSG00000038545
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
54 |
N/A |
INTRINSIC |
|
SCOP:d1jdha_
|
63 |
222 |
2e-4 |
SMART |
|
low complexity region
|
315 |
324 |
N/A |
INTRINSIC |
|
Pfam:Cul7
|
349 |
424 |
9.5e-34 |
PFAM |
|
low complexity region
|
462 |
476 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] RRP36 functions at an early stage in the processing of 35S preribosomal RNA into the mature 18S species (Gerus et al., 2010 [PubMed 20038530]).[supplied by OMIM, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agxt2 |
A |
T |
15: 10,388,338 (GRCm39) |
T278S |
probably benign |
Het |
| Ahnak |
T |
A |
19: 8,990,489 (GRCm39) |
D3924E |
possibly damaging |
Het |
| Cfap57 |
T |
A |
4: 118,452,976 (GRCm39) |
T576S |
probably benign |
Het |
| Cntnap1 |
G |
A |
11: 101,069,662 (GRCm39) |
R247K |
probably benign |
Het |
| Dipk1c |
A |
G |
18: 84,757,509 (GRCm39) |
I198V |
possibly damaging |
Het |
| Gldc |
C |
A |
19: 30,128,828 (GRCm39) |
C215F |
probably damaging |
Het |
| Grm4 |
T |
A |
17: 27,692,007 (GRCm39) |
Y204F |
probably damaging |
Het |
| Itga11 |
T |
G |
9: 62,585,252 (GRCm39) |
V9G |
probably benign |
Het |
| Mc2r |
A |
G |
18: 68,540,417 (GRCm39) |
F292S |
probably benign |
Het |
| Mcur1 |
A |
G |
13: 43,708,480 (GRCm39) |
S124P |
unknown |
Het |
| Mrtfa |
T |
C |
15: 80,905,084 (GRCm39) |
D116G |
probably damaging |
Het |
| Nin |
G |
T |
12: 70,067,736 (GRCm39) |
Q1964K |
possibly damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or5ae2 |
A |
G |
7: 84,505,987 (GRCm39) |
T137A |
probably benign |
Het |
| Or5b117 |
C |
T |
19: 13,431,594 (GRCm39) |
A96T |
possibly damaging |
Het |
| Psd2 |
G |
A |
18: 36,145,830 (GRCm39) |
A745T |
probably benign |
Het |
| Sh3tc2 |
A |
C |
18: 62,148,067 (GRCm39) |
D1259A |
probably benign |
Het |
| Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
| Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
| Tex2 |
G |
A |
11: 106,459,313 (GRCm39) |
S39L |
probably damaging |
Het |
| Tor1a |
A |
G |
2: 30,857,796 (GRCm39) |
I24T |
possibly damaging |
Het |
| Troap |
T |
C |
15: 98,980,044 (GRCm39) |
V408A |
probably damaging |
Het |
| Ttc16 |
A |
T |
2: 32,665,092 (GRCm39) |
S12T |
possibly damaging |
Het |
| Wdr37 |
A |
T |
13: 8,855,964 (GRCm39) |
C460S |
probably damaging |
Het |
|
| Other mutations in Rrp36 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01305:Rrp36
|
APN |
17 |
46,979,017 (GRCm39) |
unclassified |
probably benign |
|
|
R1328:Rrp36
|
UTSW |
17 |
46,983,705 (GRCm39) |
nonsense |
probably null |
|
|
R1470:Rrp36
|
UTSW |
17 |
46,983,306 (GRCm39) |
nonsense |
probably null |
|
|
R1470:Rrp36
|
UTSW |
17 |
46,983,306 (GRCm39) |
nonsense |
probably null |
|
|
R1672:Rrp36
|
UTSW |
17 |
46,983,340 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1920:Rrp36
|
UTSW |
17 |
46,983,671 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1922:Rrp36
|
UTSW |
17 |
46,983,671 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R2215:Rrp36
|
UTSW |
17 |
46,983,746 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R3930:Rrp36
|
UTSW |
17 |
46,983,732 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4280:Rrp36
|
UTSW |
17 |
46,983,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4747:Rrp36
|
UTSW |
17 |
46,980,893 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R5809:Rrp36
|
UTSW |
17 |
46,978,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6875:Rrp36
|
UTSW |
17 |
46,983,297 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8818:Rrp36
|
UTSW |
17 |
46,983,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9180:Rrp36
|
UTSW |
17 |
46,978,980 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9275:Rrp36
|
UTSW |
17 |
46,983,306 (GRCm39) |
nonsense |
probably null |
|
|
R9542:Rrp36
|
UTSW |
17 |
46,983,492 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCATGAGACCGTGAGACCAGATG -3'
(R):5'- AGTTGTGTGATCAGCAGCAGGAC -3'
Sequencing Primer
(F):5'- GACCAGATGGTGGTGTGAC -3'
(R):5'- TCAGGAACTGAGGCTCCG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation