Incidental Mutation 'IGL03396:Rrp1b'
| ID |
421278 |
| 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 # |
IGL03396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
32255087-32281839 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 32276237 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080085
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081339]
[ENSMUST00000150469]
|
| AlphaFold |
Q91YK2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081339
|
| SMART Domains |
Protein: ENSMUSP00000080085
Gene: ENSMUSG00000058392
| 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: ENSMUST00000126602
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136094
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137917
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147076
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150187
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
G |
A |
11: 69,902,239 (GRCm39) |
R457* |
probably null |
Het |
| Arl5b |
C |
A |
2: 15,079,915 (GRCm39) |
T153K |
probably damaging |
Het |
| Arsb |
A |
T |
13: 94,075,825 (GRCm39) |
Y436F |
probably benign |
Het |
| Azgp1 |
C |
T |
5: 137,983,445 (GRCm39) |
P40L |
possibly damaging |
Het |
| B020004C17Rik |
A |
G |
14: 57,253,993 (GRCm39) |
T39A |
possibly damaging |
Het |
| Cacna2d3 |
G |
A |
14: 29,442,834 (GRCm39) |
Q67* |
probably null |
Het |
| Cdcp2 |
C |
A |
4: 106,964,369 (GRCm39) |
Y406* |
probably null |
Het |
| Cep89 |
T |
A |
7: 35,128,603 (GRCm39) |
D585E |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,943,801 (GRCm39) |
F1570S |
probably damaging |
Het |
| Cnfn |
A |
G |
7: 25,067,783 (GRCm39) |
|
probably benign |
Het |
| Fgd6 |
G |
A |
10: 93,880,318 (GRCm39) |
V391I |
probably benign |
Het |
| Fra10ac1 |
C |
T |
19: 38,189,994 (GRCm39) |
|
probably null |
Het |
| Gjd3 |
T |
C |
11: 102,691,353 (GRCm39) |
K217E |
probably benign |
Het |
| Il20rb |
T |
C |
9: 100,341,251 (GRCm39) |
E285G |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,103,888 (GRCm39) |
T1086A |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
| Jmjd6 |
A |
T |
11: 116,732,077 (GRCm39) |
L208H |
probably damaging |
Het |
| Lilrb4b |
A |
G |
10: 51,357,253 (GRCm39) |
I30V |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,111,016 (GRCm39) |
N81S |
probably damaging |
Het |
| Mettl21e |
A |
T |
1: 44,245,759 (GRCm39) |
N162K |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,808,132 (GRCm39) |
S299P |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,964,404 (GRCm39) |
L3046P |
probably benign |
Het |
| Or1j14 |
C |
A |
2: 36,417,692 (GRCm39) |
S89R |
probably benign |
Het |
| Or5b98 |
T |
A |
19: 12,931,184 (GRCm39) |
V77E |
probably damaging |
Het |
| Or6c68 |
A |
G |
10: 129,157,916 (GRCm39) |
I141M |
probably benign |
Het |
| Pnpla8 |
G |
A |
12: 44,330,309 (GRCm39) |
R287H |
probably benign |
Het |
| Pot1a |
A |
C |
6: 25,745,913 (GRCm39) |
I596R |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,131 (GRCm39) |
D329G |
probably damaging |
Het |
| Ptprr |
T |
G |
10: 116,024,235 (GRCm39) |
V182G |
probably damaging |
Het |
| Sec24a |
A |
G |
11: 51,599,794 (GRCm39) |
V837A |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,318,840 (GRCm39) |
Y494C |
probably damaging |
Het |
| Slc38a10 |
A |
T |
11: 120,019,301 (GRCm39) |
I360N |
probably damaging |
Het |
| Snrpb2 |
T |
C |
2: 142,913,377 (GRCm39) |
F194L |
possibly damaging |
Het |
| Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,143,882 (GRCm39) |
N238S |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,901,729 (GRCm39) |
V498A |
probably benign |
Het |
| Vmn2r23 |
T |
C |
6: 123,706,585 (GRCm39) |
S472P |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,290,107 (GRCm39) |
T548S |
possibly damaging |
Het |
| Zfp429 |
A |
T |
13: 67,544,159 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Rrp1b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01114:Rrp1b
|
APN |
17 |
32,271,793 (GRCm39) |
missense |
probably benign |
0.09 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation