Incidental Mutation 'IGL03404:Rrp8'
| ID |
421530 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rrp8
|
| Ensembl Gene |
ENSMUSG00000030888 |
| Gene Name |
ribosomal RNA processing 8 |
| Synonyms |
1500003O22Rik, 2900001K19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
IGL03404
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
105380937-105386592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 105384145 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 119
(K119R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095752
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033179]
[ENSMUST00000033182]
[ENSMUST00000098148]
[ENSMUST00000136687]
[ENSMUST00000141116]
[ENSMUST00000149695]
[ENSMUST00000163389]
|
| AlphaFold |
Q9DB85 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033179
AA Change: K73R
PolyPhen 2
Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000033179
Gene: ENSMUSG00000030888
AA Change: K73R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
186 |
202 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_8
|
238 |
457 |
2.4e-107 |
PFAM |
|
Pfam:Methyltransf_11
|
314 |
391 |
2e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033182
|
| SMART Domains |
Protein: ENSMUSP00000033182
Gene: ENSMUSG00000030890
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
33 |
62 |
4.71e-6 |
SMART |
|
ANK
|
66 |
95 |
1.04e-7 |
SMART |
|
ANK
|
99 |
128 |
1.02e-1 |
SMART |
|
Pfam:Pkinase
|
193 |
445 |
1.5e-25 |
PFAM |
|
Pfam:Pkinase_Tyr
|
193 |
446 |
7.2e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098148
AA Change: K119R
PolyPhen 2
Score 0.407 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095752
Gene: ENSMUSG00000030888
AA Change: K119R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
232 |
248 |
N/A |
INTRINSIC |
|
Pfam:Methyltransf_8
|
284 |
503 |
7.5e-107 |
PFAM |
|
Pfam:Methyltransf_11
|
348 |
437 |
2.6e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127738
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136687
|
| SMART Domains |
Protein: ENSMUSP00000123443
Gene: ENSMUSG00000030890
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
33 |
62 |
4.71e-6 |
SMART |
|
ANK
|
66 |
95 |
1.04e-7 |
SMART |
|
ANK
|
99 |
128 |
1.02e-1 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137902
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000141116
|
| SMART Domains |
Protein: ENSMUSP00000118105
Gene: ENSMUSG00000043866
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
39 |
N/A |
INTRINSIC |
|
low complexity region
|
45 |
91 |
N/A |
INTRINSIC |
|
Pfam:TFIID_30kDa
|
128 |
177 |
6.1e-30 |
PFAM |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145123
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148176
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154626
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149695
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154852
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163389
|
| SMART Domains |
Protein: ENSMUSP00000130341
Gene: ENSMUSG00000030890
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
33 |
62 |
4.71e-6 |
SMART |
|
ANK
|
66 |
95 |
1.04e-7 |
SMART |
|
ANK
|
99 |
128 |
1.02e-1 |
SMART |
|
Pfam:Pkinase_Tyr
|
193 |
446 |
4e-39 |
PFAM |
|
Pfam:Pkinase
|
195 |
445 |
3e-23 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap8 |
T |
G |
17: 32,531,250 (GRCm39) |
|
probably benign |
Het |
| Ap3d1 |
A |
G |
10: 80,565,871 (GRCm39) |
S99P |
probably damaging |
Het |
| Arhgef1 |
T |
A |
7: 24,616,268 (GRCm39) |
M304K |
probably benign |
Het |
| Arpc5l |
T |
C |
2: 38,903,895 (GRCm39) |
L128P |
probably damaging |
Het |
| Chl1 |
A |
T |
6: 103,670,052 (GRCm39) |
I497F |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,538,200 (GRCm39) |
G616E |
probably damaging |
Het |
| Filip1 |
T |
C |
9: 79,725,841 (GRCm39) |
E926G |
probably damaging |
Het |
| Fras1 |
A |
T |
5: 96,876,440 (GRCm39) |
H2391L |
probably damaging |
Het |
| Fry |
A |
T |
5: 150,249,633 (GRCm39) |
D148V |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,886,534 (GRCm39) |
M1086K |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,798,864 (GRCm39) |
Y543F |
probably damaging |
Het |
| Gtf3a |
T |
C |
5: 146,887,449 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
T |
8: 111,296,409 (GRCm39) |
Y3646F |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,310,492 (GRCm39) |
D425G |
probably damaging |
Het |
| Lipo3 |
A |
C |
19: 33,560,440 (GRCm39) |
|
probably benign |
Het |
| Ltbp1 |
A |
C |
17: 75,532,301 (GRCm39) |
K443T |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,069,310 (GRCm39) |
I497T |
probably damaging |
Het |
| Nlrp5 |
A |
G |
7: 23,129,459 (GRCm39) |
D842G |
probably benign |
Het |
| Or10j3 |
T |
C |
1: 173,031,766 (GRCm39) |
V281A |
probably benign |
Het |
| Or52s6 |
A |
T |
7: 103,092,195 (GRCm39) |
V45E |
possibly damaging |
Het |
| Or6n1 |
A |
G |
1: 173,917,464 (GRCm39) |
N286S |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,520,372 (GRCm39) |
|
probably benign |
Het |
| Pkd1 |
A |
T |
17: 24,783,380 (GRCm39) |
I120L |
probably damaging |
Het |
| Ptprc |
T |
C |
1: 138,020,739 (GRCm39) |
N401S |
probably damaging |
Het |
| Rptn |
A |
G |
3: 93,305,436 (GRCm39) |
H923R |
possibly damaging |
Het |
| Setd7 |
A |
T |
3: 51,440,407 (GRCm39) |
Y211* |
probably null |
Het |
| Sfxn5 |
G |
A |
6: 85,276,518 (GRCm39) |
|
probably benign |
Het |
| Sun5 |
T |
C |
2: 153,712,924 (GRCm39) |
|
probably benign |
Het |
| Tnks |
A |
T |
8: 35,407,858 (GRCm39) |
V290D |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,769,996 (GRCm39) |
P2740L |
probably benign |
Het |
| Ttc23 |
G |
T |
7: 67,328,645 (GRCm39) |
L195F |
probably damaging |
Het |
| Tubb1 |
G |
T |
2: 174,299,241 (GRCm39) |
G308C |
probably damaging |
Het |
| Vmn1r217 |
A |
T |
13: 23,298,810 (GRCm39) |
F31I |
probably benign |
Het |
| Zp1 |
A |
T |
19: 10,891,825 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rrp8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00323:Rrp8
|
APN |
7 |
105,382,223 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02792:Rrp8
|
APN |
7 |
105,383,018 (GRCm39) |
nonsense |
probably null |
|
|
IGL03010:Rrp8
|
APN |
7 |
105,383,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03046:Rrp8
|
UTSW |
7 |
105,384,109 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0682:Rrp8
|
UTSW |
7 |
105,383,218 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2314:Rrp8
|
UTSW |
7 |
105,384,011 (GRCm39) |
missense |
probably benign |
0.37 |
|
R4222:Rrp8
|
UTSW |
7 |
105,383,229 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4778:Rrp8
|
UTSW |
7 |
105,386,481 (GRCm39) |
intron |
probably benign |
|
|
R4940:Rrp8
|
UTSW |
7 |
105,383,284 (GRCm39) |
nonsense |
probably null |
|
|
R5315:Rrp8
|
UTSW |
7 |
105,383,207 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5480:Rrp8
|
UTSW |
7 |
105,383,336 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5630:Rrp8
|
UTSW |
7 |
105,382,608 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6266:Rrp8
|
UTSW |
7 |
105,385,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6351:Rrp8
|
UTSW |
7 |
105,384,016 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6353:Rrp8
|
UTSW |
7 |
105,383,325 (GRCm39) |
nonsense |
probably null |
|
|
R7070:Rrp8
|
UTSW |
7 |
105,384,083 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7092:Rrp8
|
UTSW |
7 |
105,383,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7632:Rrp8
|
UTSW |
7 |
105,385,727 (GRCm39) |
unclassified |
probably benign |
|
|
R8686:Rrp8
|
UTSW |
7 |
105,382,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8806:Rrp8
|
UTSW |
7 |
105,384,244 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8927:Rrp8
|
UTSW |
7 |
105,384,073 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8928:Rrp8
|
UTSW |
7 |
105,384,073 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9299:Rrp8
|
UTSW |
7 |
105,383,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9337:Rrp8
|
UTSW |
7 |
105,383,384 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9542:Rrp8
|
UTSW |
7 |
105,382,606 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation