Incidental Mutation 'R1328:Rrp36'
| ID |
157293 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrp36
|
| Ensembl Gene |
ENSMUSG00000023971 |
| Gene Name |
ribosomal RNA processing 36 |
| Synonyms |
BC011248 |
| MMRRC Submission |
039394-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.947)
|
| Stock # |
R1328 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
46977249-46985252 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 46983705 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 36
(K36*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000024766
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000024766]
[ENSMUST00000071841]
[ENSMUST00000165007]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000024766
AA Change: K36*
|
| SMART Domains |
Protein: ENSMUSP00000024766
Gene: ENSMUSG00000023971
AA Change: K36*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF947
|
55 |
219 |
7.6e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000071841
|
| SMART Domains |
Protein: ENSMUSP00000071743
Gene: ENSMUSG00000063576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_1
|
13 |
63 |
1.6e-8 |
PFAM |
|
Pfam:Kelch_2
|
13 |
63 |
2.2e-9 |
PFAM |
|
Pfam:Kelch_4
|
13 |
65 |
3.8e-8 |
PFAM |
|
Pfam:Kelch_6
|
13 |
67 |
9.6e-11 |
PFAM |
|
Pfam:Kelch_5
|
73 |
113 |
3.1e-8 |
PFAM |
|
Pfam:Kelch_1
|
76 |
117 |
1.9e-7 |
PFAM |
|
Pfam:Kelch_6
|
76 |
121 |
1.7e-9 |
PFAM |
|
Pfam:Kelch_2
|
77 |
121 |
2.1e-8 |
PFAM |
|
Pfam:Kelch_4
|
77 |
125 |
4.6e-11 |
PFAM |
|
Pfam:Kelch_3
|
86 |
136 |
1.3e-12 |
PFAM |
|
Pfam:Kelch_1
|
127 |
172 |
1.5e-10 |
PFAM |
|
Pfam:Kelch_6
|
127 |
173 |
2e-10 |
PFAM |
|
Pfam:Kelch_2
|
127 |
174 |
4.7e-14 |
PFAM |
|
Pfam:Kelch_4
|
127 |
177 |
1.3e-10 |
PFAM |
|
Pfam:Kelch_2
|
179 |
231 |
2.4e-8 |
PFAM |
|
Pfam:Kelch_1
|
180 |
233 |
5.8e-9 |
PFAM |
|
Pfam:Kelch_3
|
189 |
247 |
7.3e-8 |
PFAM |
|
Pfam:Kelch_5
|
235 |
276 |
1.2e-11 |
PFAM |
|
Pfam:Kelch_1
|
238 |
284 |
2.7e-8 |
PFAM |
|
Pfam:Kelch_6
|
238 |
293 |
2.4e-12 |
PFAM |
|
Pfam:Kelch_3
|
248 |
299 |
4.2e-10 |
PFAM |
|
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165007
|
| SMART Domains |
Protein: ENSMUSP00000128271
Gene: ENSMUSG00000063576
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Kelch_1
|
13 |
63 |
9.9e-10 |
PFAM |
|
Pfam:Kelch_2
|
13 |
63 |
2.2e-9 |
PFAM |
|
Pfam:Kelch_6
|
13 |
66 |
7.5e-11 |
PFAM |
|
Pfam:Kelch_4
|
13 |
71 |
1.4e-8 |
PFAM |
|
Pfam:Kelch_5
|
73 |
113 |
3e-8 |
PFAM |
|
Pfam:Kelch_1
|
76 |
118 |
2.6e-8 |
PFAM |
|
Pfam:Kelch_6
|
76 |
121 |
1.1e-10 |
PFAM |
|
Pfam:Kelch_4
|
76 |
126 |
2e-11 |
PFAM |
|
Pfam:Kelch_2
|
77 |
121 |
2.1e-8 |
PFAM |
|
Pfam:Kelch_3
|
86 |
136 |
7.7e-12 |
PFAM |
|
Pfam:Kelch_1
|
127 |
170 |
1.2e-8 |
PFAM |
|
Pfam:Kelch_2
|
127 |
174 |
4.7e-14 |
PFAM |
|
Pfam:Kelch_4
|
127 |
177 |
1.7e-7 |
PFAM |
|
Pfam:Kelch_2
|
179 |
231 |
2.4e-8 |
PFAM |
|
Pfam:Kelch_6
|
179 |
239 |
2.5e-9 |
PFAM |
|
Pfam:Kelch_1
|
180 |
232 |
3.4e-8 |
PFAM |
|
Pfam:Kelch_3
|
189 |
247 |
5.7e-8 |
PFAM |
|
Pfam:Kelch_5
|
235 |
276 |
4.3e-10 |
PFAM |
|
Pfam:Kelch_1
|
238 |
285 |
9.3e-10 |
PFAM |
|
Pfam:Kelch_4
|
238 |
291 |
9.9e-8 |
PFAM |
|
Pfam:Kelch_6
|
238 |
293 |
2.5e-12 |
PFAM |
|
Pfam:Kelch_3
|
248 |
299 |
1.1e-9 |
PFAM |
|
low complexity region
|
322 |
333 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181301
|
| Meta Mutation Damage Score |
0.9707 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.2%
- 20x: 89.9%
|
| Validation Efficiency |
100% (37/37) |
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp4 |
C |
T |
7: 43,906,516 (GRCm39) |
|
probably null |
Het |
| Bcap29 |
T |
C |
12: 31,680,807 (GRCm39) |
I60V |
probably benign |
Het |
| Ccdc71 |
T |
A |
9: 108,340,148 (GRCm39) |
|
probably benign |
Het |
| Ccnb1ip1 |
A |
T |
14: 51,027,382 (GRCm39) |
V240E |
probably benign |
Het |
| Copa |
C |
T |
1: 171,949,258 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
G |
T |
9: 54,303,533 (GRCm39) |
Q2314K |
probably benign |
Het |
| Fam181b |
T |
C |
7: 92,729,437 (GRCm39) |
I70T |
probably damaging |
Het |
| Fbxl14 |
T |
C |
6: 119,457,347 (GRCm39) |
L176P |
possibly damaging |
Het |
| Fip1l1 |
T |
A |
5: 74,706,796 (GRCm39) |
F144L |
possibly damaging |
Het |
| Flnc |
T |
C |
6: 29,438,612 (GRCm39) |
W169R |
probably damaging |
Het |
| H2-M3 |
T |
C |
17: 37,581,925 (GRCm39) |
V127A |
possibly damaging |
Het |
| Il23r |
T |
A |
6: 67,468,802 (GRCm39) |
|
probably benign |
Het |
| Krt18 |
C |
T |
15: 101,939,169 (GRCm39) |
A251V |
probably benign |
Het |
| Mast1 |
A |
G |
8: 85,644,617 (GRCm39) |
|
probably benign |
Het |
| Or6c202 |
A |
G |
10: 128,996,293 (GRCm39) |
S187P |
possibly damaging |
Het |
| Or9i14 |
G |
A |
19: 13,792,900 (GRCm39) |
T18I |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,361,392 (GRCm39) |
Y481H |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,533,046 (GRCm39) |
|
probably benign |
Het |
| Pou4f2 |
G |
A |
8: 79,162,759 (GRCm39) |
A92V |
probably benign |
Het |
| Pramel5 |
A |
G |
4: 143,998,058 (GRCm39) |
L395P |
probably damaging |
Het |
| Prmt9 |
T |
C |
8: 78,299,283 (GRCm39) |
I659T |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Sag |
G |
A |
1: 87,738,016 (GRCm39) |
|
probably benign |
Het |
| Setd7 |
T |
C |
3: 51,450,240 (GRCm39) |
Y62C |
possibly damaging |
Het |
| Smr2 |
AT |
ATT |
5: 88,256,683 (GRCm39) |
|
probably null |
Het |
| Sox13 |
T |
C |
1: 133,311,555 (GRCm39) |
D559G |
probably damaging |
Het |
| Srd5a1 |
T |
A |
13: 69,723,310 (GRCm39) |
Y236F |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,692,657 (GRCm39) |
I570F |
possibly damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,805,859 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
G |
3: 103,260,913 (GRCm39) |
T1064A |
possibly damaging |
Het |
| Vmn1r8 |
T |
C |
6: 57,013,278 (GRCm39) |
S110P |
possibly damaging |
Het |
| Vmn2r118 |
C |
A |
17: 55,915,620 (GRCm39) |
M443I |
probably benign |
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 |
|
|
R1085:Rrp36
|
UTSW |
17 |
46,978,878 (GRCm39) |
makesense |
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'- ACTGCCGTCTTGGAGGAAGGTAAC -3'
(R):5'- CATTACAGAGTAGCACCTTGGCGAC -3'
Sequencing Primer
(F):5'- GGTAACAGACATCTGTCAAAGTC -3'
(R):5'- ctgtcccctccctacacc -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation