Incidental Mutation 'IGL01114:Rrp1b'
| ID |
53075 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rrp1b
|
| Ensembl Gene |
ENSMUSG00000058392 |
| Gene Name |
ribosomal RNA processing 1B |
| Synonyms |
2600005C20Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32255087-32281839 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 32271793 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 288
(P288S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081339]
[ENSMUST00000150469]
[ENSMUST00000151808]
|
| AlphaFold |
Q91YK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081339
AA Change: P288S
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000080085
Gene: ENSMUSG00000058392
AA Change: P288S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nop52
|
10 |
218 |
3.3e-73 |
PFAM |
|
low complexity region
|
344 |
352 |
N/A |
INTRINSIC |
|
low complexity region
|
376 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
450 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
483 |
496 |
N/A |
INTRINSIC |
|
low complexity region
|
694 |
706 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149746
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150151
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150469
|
| SMART Domains |
Protein: ENSMUSP00000117400
Gene: ENSMUSG00000058392
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156164
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151808
|
| SMART Domains |
Protein: ENSMUSP00000123044
Gene: ENSMUSG00000058392
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nop52
|
8 |
77 |
1.9e-25 |
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 |
|---|
| 1700101I19Rik |
T |
C |
1: 34,618,370 (GRCm39) |
|
probably benign |
Het |
| Abca15 |
T |
G |
7: 119,960,643 (GRCm39) |
Y702D |
probably damaging |
Het |
| Abcc8 |
T |
C |
7: 45,754,088 (GRCm39) |
K1576R |
probably benign |
Het |
| Acot12 |
T |
A |
13: 91,905,711 (GRCm39) |
|
probably benign |
Het |
| Adamts13 |
A |
G |
2: 26,895,202 (GRCm39) |
I1098V |
probably benign |
Het |
| Adcy6 |
C |
T |
15: 98,496,857 (GRCm39) |
V471M |
probably damaging |
Het |
| Ccdc170 |
C |
A |
10: 4,508,550 (GRCm39) |
D591E |
probably benign |
Het |
| Corin |
A |
C |
5: 72,462,354 (GRCm39) |
D826E |
probably damaging |
Het |
| Cpsf2 |
T |
G |
12: 101,956,098 (GRCm39) |
N300K |
possibly damaging |
Het |
| Csmd2 |
C |
T |
4: 128,262,923 (GRCm39) |
T703I |
probably benign |
Het |
| D130043K22Rik |
T |
A |
13: 25,041,139 (GRCm39) |
L187Q |
probably damaging |
Het |
| D430041D05Rik |
G |
T |
2: 104,088,511 (GRCm39) |
S155* |
probably null |
Het |
| Dmrtc2 |
C |
T |
7: 24,572,001 (GRCm39) |
P32L |
probably damaging |
Het |
| Dsel |
G |
A |
1: 111,787,791 (GRCm39) |
R915* |
probably null |
Het |
| Fam124b |
T |
C |
1: 80,190,852 (GRCm39) |
Y177C |
possibly damaging |
Het |
| Fam171b |
G |
A |
2: 83,707,072 (GRCm39) |
W314* |
probably null |
Het |
| Gpn1 |
G |
T |
5: 31,655,745 (GRCm39) |
D103Y |
probably damaging |
Het |
| Gpr89 |
A |
T |
3: 96,800,865 (GRCm39) |
F88I |
probably damaging |
Het |
| Ifi27l2a |
T |
C |
12: 103,403,792 (GRCm39) |
|
probably benign |
Het |
| Kdm4d |
A |
G |
9: 14,375,493 (GRCm39) |
Y122H |
probably damaging |
Het |
| Oas1d |
G |
A |
5: 121,054,907 (GRCm39) |
V160I |
probably benign |
Het |
| Or5b108 |
A |
G |
19: 13,168,598 (GRCm39) |
D189G |
possibly damaging |
Het |
| Or7e170 |
A |
T |
9: 19,794,844 (GRCm39) |
Y252* |
probably null |
Het |
| Poglut3 |
T |
C |
9: 53,299,879 (GRCm39) |
|
probably null |
Het |
| Sin3b |
A |
G |
8: 73,471,133 (GRCm39) |
K360R |
probably benign |
Het |
| Sympk |
A |
G |
7: 18,781,498 (GRCm39) |
D818G |
probably benign |
Het |
| Tecpr2 |
A |
G |
12: 110,934,213 (GRCm39) |
D1291G |
possibly damaging |
Het |
| Tep1 |
C |
T |
14: 51,088,096 (GRCm39) |
V814M |
probably damaging |
Het |
| Tpsg1 |
T |
C |
17: 25,592,196 (GRCm39) |
V17A |
probably benign |
Het |
|
| Other mutations in Rrp1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01383:Rrp1b
|
APN |
17 |
32,277,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02740:Rrp1b
|
APN |
17 |
32,278,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03030:Rrp1b
|
APN |
17 |
32,275,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03181:Rrp1b
|
APN |
17 |
32,276,150 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL03396:Rrp1b
|
APN |
17 |
32,276,237 (GRCm39) |
splice site |
probably benign |
|
|
IGL02980:Rrp1b
|
UTSW |
17 |
32,269,013 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R0138:Rrp1b
|
UTSW |
17 |
32,279,426 (GRCm39) |
missense |
probably benign |
0.24 |
|
R0394:Rrp1b
|
UTSW |
17 |
32,277,538 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0681:Rrp1b
|
UTSW |
17 |
32,279,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1315:Rrp1b
|
UTSW |
17 |
32,275,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1351:Rrp1b
|
UTSW |
17 |
32,275,611 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1700:Rrp1b
|
UTSW |
17 |
32,276,178 (GRCm39) |
missense |
probably benign |
0.19 |
|
R1815:Rrp1b
|
UTSW |
17 |
32,275,785 (GRCm39) |
missense |
probably benign |
|
|
R1940:Rrp1b
|
UTSW |
17 |
32,275,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2176:Rrp1b
|
UTSW |
17 |
32,275,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2352:Rrp1b
|
UTSW |
17 |
32,278,302 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2975:Rrp1b
|
UTSW |
17 |
32,277,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4552:Rrp1b
|
UTSW |
17 |
32,274,984 (GRCm39) |
splice site |
probably benign |
|
|
R5114:Rrp1b
|
UTSW |
17 |
32,255,445 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5242:Rrp1b
|
UTSW |
17 |
32,270,677 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5647:Rrp1b
|
UTSW |
17 |
32,274,985 (GRCm39) |
splice site |
probably benign |
|
|
R5739:Rrp1b
|
UTSW |
17 |
32,264,950 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5853:Rrp1b
|
UTSW |
17 |
32,275,658 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5878:Rrp1b
|
UTSW |
17 |
32,266,649 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6389:Rrp1b
|
UTSW |
17 |
32,275,601 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R6734:Rrp1b
|
UTSW |
17 |
32,274,278 (GRCm39) |
intron |
probably benign |
|
|
R6742:Rrp1b
|
UTSW |
17 |
32,275,908 (GRCm39) |
missense |
probably benign |
|
|
R6759:Rrp1b
|
UTSW |
17 |
32,276,063 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6855:Rrp1b
|
UTSW |
17 |
32,271,719 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7014:Rrp1b
|
UTSW |
17 |
32,268,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7315:Rrp1b
|
UTSW |
17 |
32,277,545 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7689:Rrp1b
|
UTSW |
17 |
32,274,900 (GRCm39) |
missense |
probably benign |
0.38 |
|
R7834:Rrp1b
|
UTSW |
17 |
32,270,698 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7993:Rrp1b
|
UTSW |
17 |
32,277,541 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8272:Rrp1b
|
UTSW |
17 |
32,276,163 (GRCm39) |
missense |
probably benign |
|
|
R8371:Rrp1b
|
UTSW |
17 |
32,268,458 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R8885:Rrp1b
|
UTSW |
17 |
32,270,688 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
| Posted On |
2013-06-21 |
Incidental Mutation