Incidental Mutation 'IGL00323:Rrp8'
ID |
27737 |
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 # |
IGL00323
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
105380937-105386592 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
T to C
at 105382223 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130341
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033179]
[ENSMUST00000033182]
[ENSMUST00000098148]
[ENSMUST00000136687]
[ENSMUST00000149695]
[ENSMUST00000163389]
|
AlphaFold |
Q9DB85 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033179
|
SMART Domains |
Protein: ENSMUSP00000033179 Gene: ENSMUSG00000030888
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
|
SMART Domains |
Protein: ENSMUSP00000095752 Gene: ENSMUSG00000030888
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 |
noncoding transcript
Transcript: ENSMUST00000145123
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148176
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154852
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149695
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154626
|
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: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ap5m1 |
T |
C |
14: 49,311,247 (GRCm39) |
Y106H |
probably damaging |
Het |
Atrnl1 |
C |
A |
19: 57,680,249 (GRCm39) |
N716K |
probably benign |
Het |
Ccnq |
A |
G |
11: 78,641,782 (GRCm39) |
V236A |
probably benign |
Het |
Cdk13 |
A |
T |
13: 17,895,683 (GRCm39) |
N1075K |
possibly damaging |
Het |
Daam1 |
G |
A |
12: 72,005,517 (GRCm39) |
|
probably benign |
Het |
Exd2 |
T |
C |
12: 80,522,940 (GRCm39) |
V133A |
probably damaging |
Het |
Glrb |
T |
C |
3: 80,769,262 (GRCm39) |
D155G |
probably damaging |
Het |
Gm13941 |
T |
A |
2: 110,935,198 (GRCm39) |
M11L |
unknown |
Het |
Gm4553 |
T |
C |
7: 141,718,964 (GRCm39) |
S155G |
unknown |
Het |
Inpp5d |
G |
T |
1: 87,611,537 (GRCm39) |
V329F |
probably benign |
Het |
Lilrb4b |
A |
T |
10: 51,357,347 (GRCm39) |
D61V |
probably benign |
Het |
Malt1 |
T |
A |
18: 65,582,034 (GRCm39) |
C299* |
probably null |
Het |
Or10j27 |
G |
A |
1: 172,957,978 (GRCm39) |
Q269* |
probably null |
Het |
Or4f14 |
A |
T |
2: 111,742,381 (GRCm39) |
M298K |
possibly damaging |
Het |
Pigk |
C |
A |
3: 152,453,269 (GRCm39) |
S282* |
probably null |
Het |
Pik3r1 |
T |
A |
13: 101,827,044 (GRCm39) |
M1L |
probably benign |
Het |
Pnpla1 |
A |
G |
17: 29,096,416 (GRCm39) |
Y165C |
probably damaging |
Het |
Rfx7 |
A |
G |
9: 72,524,702 (GRCm39) |
N631D |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,416,969 (GRCm39) |
D1381V |
probably damaging |
Het |
Scn4a |
A |
T |
11: 106,210,745 (GRCm39) |
D1757E |
probably benign |
Het |
Sec62 |
T |
C |
3: 30,864,591 (GRCm39) |
|
probably benign |
Het |
Smarca5 |
G |
A |
8: 81,440,670 (GRCm39) |
T598M |
probably benign |
Het |
Sptbn5 |
T |
C |
2: 119,884,948 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
C |
7: 127,141,885 (GRCm39) |
|
probably benign |
Het |
Stab1 |
T |
A |
14: 30,861,263 (GRCm39) |
E71D |
probably benign |
Het |
Trhde |
A |
T |
10: 114,322,652 (GRCm39) |
S716R |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,726,859 (GRCm39) |
|
probably benign |
Het |
Wscd2 |
A |
C |
5: 113,689,236 (GRCm39) |
T81P |
possibly damaging |
Het |
Zfp335 |
G |
A |
2: 164,734,302 (GRCm39) |
T1295I |
probably damaging |
Het |
|
Other mutations in Rrp8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02792:Rrp8
|
APN |
7 |
105,383,018 (GRCm39) |
nonsense |
probably null |
|
IGL03010:Rrp8
|
APN |
7 |
105,383,598 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03404:Rrp8
|
APN |
7 |
105,384,145 (GRCm39) |
missense |
probably benign |
0.41 |
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 |
2013-04-17 |