Incidental Mutation 'IGL03010:Rrp8'
ID |
407737 |
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: 0.194)
|
Stock # |
IGL03010
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
105380937-105386592 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 105383598 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 223
(S223P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095752
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033179]
[ENSMUST00000033182]
[ENSMUST00000098148]
[ENSMUST00000136687]
[ENSMUST00000149695]
[ENSMUST00000163389]
|
AlphaFold |
Q9DB85 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000033179
AA Change: S177P
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000033179 Gene: ENSMUSG00000030888 AA Change: S177P
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: S223P
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
SMART Domains |
Protein: ENSMUSP00000095752 Gene: ENSMUSG00000030888 AA Change: S223P
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: 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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acvr1b |
A |
G |
15: 101,100,959 (GRCm39) |
R374G |
probably damaging |
Het |
Adamts4 |
T |
C |
1: 171,078,985 (GRCm39) |
C202R |
probably damaging |
Het |
Afap1l1 |
T |
C |
18: 61,876,390 (GRCm39) |
D409G |
probably benign |
Het |
Atp6v1b2 |
T |
C |
8: 69,558,534 (GRCm39) |
I334T |
probably damaging |
Het |
Btn2a2 |
A |
T |
13: 23,670,375 (GRCm39) |
Y119* |
probably null |
Het |
Cct2 |
T |
C |
10: 116,894,019 (GRCm39) |
D245G |
probably damaging |
Het |
Ercc2 |
A |
G |
7: 19,125,491 (GRCm39) |
K486E |
possibly damaging |
Het |
Fam186b |
T |
C |
15: 99,178,508 (GRCm39) |
S273G |
possibly damaging |
Het |
Fbxw24 |
T |
A |
9: 109,452,678 (GRCm39) |
I106L |
probably benign |
Het |
Ghrhr |
T |
C |
6: 55,361,742 (GRCm39) |
I303T |
probably damaging |
Het |
Habp2 |
T |
C |
19: 56,299,655 (GRCm39) |
|
probably null |
Het |
Haus3 |
T |
A |
5: 34,323,631 (GRCm39) |
E326D |
probably benign |
Het |
Hdac7 |
C |
T |
15: 97,691,810 (GRCm39) |
|
probably null |
Het |
Hectd2 |
T |
A |
19: 36,593,002 (GRCm39) |
D722E |
probably benign |
Het |
Il20ra |
G |
T |
10: 19,624,960 (GRCm39) |
G80W |
probably damaging |
Het |
Jag1 |
T |
C |
2: 136,935,118 (GRCm39) |
|
probably benign |
Het |
Lrp1b |
A |
G |
2: 42,213,618 (GRCm39) |
S65P |
possibly damaging |
Het |
Lypd2 |
A |
G |
15: 74,606,102 (GRCm39) |
I12T |
probably benign |
Het |
Nat2 |
T |
A |
8: 67,954,664 (GRCm39) |
L258Q |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,414,688 (GRCm39) |
|
probably benign |
Het |
Or2y1b |
T |
A |
11: 49,208,973 (GRCm39) |
V200E |
probably damaging |
Het |
Or5ac24 |
A |
G |
16: 59,165,135 (GRCm39) |
|
probably benign |
Het |
Or6c3 |
G |
T |
10: 129,308,843 (GRCm39) |
C94F |
probably damaging |
Het |
Pcdh15 |
T |
A |
10: 74,221,777 (GRCm39) |
D692E |
probably damaging |
Het |
Prkcz |
G |
T |
4: 155,371,262 (GRCm39) |
H134N |
probably damaging |
Het |
Prmt8 |
T |
C |
6: 127,706,498 (GRCm39) |
T98A |
probably benign |
Het |
Rps6kc1 |
C |
A |
1: 190,643,803 (GRCm39) |
E19* |
probably null |
Het |
Septin10 |
G |
A |
10: 59,006,777 (GRCm39) |
|
probably benign |
Het |
Serpinb7 |
T |
C |
1: 107,379,741 (GRCm39) |
|
probably benign |
Het |
Spaca6 |
C |
A |
17: 18,058,667 (GRCm39) |
Q72K |
probably benign |
Het |
Spag1 |
A |
G |
15: 36,233,419 (GRCm39) |
H712R |
probably benign |
Het |
Spg11 |
C |
A |
2: 121,918,801 (GRCm39) |
A943S |
probably damaging |
Het |
Tmem104 |
T |
C |
11: 115,134,360 (GRCm39) |
S298P |
probably benign |
Het |
Ttn |
A |
G |
2: 76,565,432 (GRCm39) |
I28265T |
probably damaging |
Het |
Usp33 |
G |
T |
3: 152,074,233 (GRCm39) |
V360F |
probably benign |
Het |
Vmn2r113 |
A |
G |
17: 23,175,038 (GRCm39) |
T550A |
possibly damaging |
Het |
Zscan4d |
A |
T |
7: 10,897,070 (GRCm39) |
V128D |
probably damaging |
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 |
|
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 |
2016-08-02 |