Incidental Mutation 'IGL03181:Rrp1b'
ID |
412260 |
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 # |
IGL03181
|
Quality Score |
|
Status
|
|
Chromosome |
17 |
Chromosomal Location |
32255087-32281839 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 32276150 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 566
(I566F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080085
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081339]
[ENSMUST00000150469]
|
AlphaFold |
Q91YK2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000081339
AA Change: I566F
PolyPhen 2
Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000080085 Gene: ENSMUSG00000058392 AA Change: I566F
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,240,147 (GRCm39) |
V1319A |
possibly damaging |
Het |
Abcb11 |
T |
A |
2: 69,158,352 (GRCm39) |
|
probably benign |
Het |
Acss3 |
G |
T |
10: 106,889,249 (GRCm39) |
H190Q |
probably damaging |
Het |
Adra2b |
C |
T |
2: 127,205,903 (GRCm39) |
T140I |
probably benign |
Het |
Arl1 |
T |
A |
10: 88,578,921 (GRCm39) |
|
probably benign |
Het |
Atp4a |
T |
G |
7: 30,424,129 (GRCm39) |
C968G |
probably benign |
Het |
Clec4n |
T |
C |
6: 123,207,474 (GRCm39) |
C13R |
possibly damaging |
Het |
Cnot3 |
T |
C |
7: 3,656,247 (GRCm39) |
Y178H |
probably damaging |
Het |
Col18a1 |
G |
A |
10: 76,891,532 (GRCm39) |
R1560C |
probably damaging |
Het |
Cyp2c66 |
T |
C |
19: 39,130,483 (GRCm39) |
F106S |
probably benign |
Het |
Dcn |
A |
C |
10: 97,319,314 (GRCm39) |
E30D |
probably damaging |
Het |
Dennd5a |
A |
T |
7: 109,532,865 (GRCm39) |
F302I |
probably damaging |
Het |
Dip2b |
T |
C |
15: 100,113,088 (GRCm39) |
V1501A |
probably damaging |
Het |
Dnah10 |
C |
T |
5: 124,825,521 (GRCm39) |
P687S |
probably damaging |
Het |
Drc7 |
A |
G |
8: 95,794,755 (GRCm39) |
T387A |
probably benign |
Het |
Dusp7 |
T |
A |
9: 106,251,009 (GRCm39) |
M378K |
probably damaging |
Het |
Ftmt |
T |
C |
18: 52,464,953 (GRCm39) |
Y90H |
probably damaging |
Het |
Glb1l3 |
T |
C |
9: 26,739,659 (GRCm39) |
|
probably null |
Het |
Gpatch3 |
T |
C |
4: 133,305,433 (GRCm39) |
F223L |
probably damaging |
Het |
Gpr158 |
T |
A |
2: 21,787,972 (GRCm39) |
F538I |
probably benign |
Het |
Gucy2e |
A |
G |
11: 69,121,008 (GRCm39) |
|
probably benign |
Het |
Hadha |
A |
G |
5: 30,326,524 (GRCm39) |
V566A |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,492,021 (GRCm39) |
S3787C |
possibly damaging |
Het |
Hnrnpk |
A |
T |
13: 58,542,130 (GRCm39) |
D265E |
possibly damaging |
Het |
Hspbp1 |
G |
A |
7: 4,687,363 (GRCm39) |
R83W |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,243,248 (GRCm39) |
L758Q |
probably damaging |
Het |
Ippk |
A |
G |
13: 49,595,463 (GRCm39) |
Y180C |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,330,242 (GRCm39) |
M1620K |
probably benign |
Het |
Klf7 |
T |
C |
1: 64,074,885 (GRCm39) |
K298R |
possibly damaging |
Het |
Ktn1 |
A |
T |
14: 47,970,741 (GRCm39) |
T1229S |
probably benign |
Het |
Lefty2 |
A |
G |
1: 180,725,115 (GRCm39) |
N282D |
probably damaging |
Het |
Lrrc37 |
A |
T |
11: 103,507,242 (GRCm39) |
|
probably benign |
Het |
Nsd1 |
G |
A |
13: 55,394,858 (GRCm39) |
E820K |
probably damaging |
Het |
Obsl1 |
C |
A |
1: 75,469,228 (GRCm39) |
A1238S |
probably benign |
Het |
Odr4 |
G |
T |
1: 150,239,290 (GRCm39) |
P378T |
probably benign |
Het |
Pias2 |
T |
C |
18: 77,220,938 (GRCm39) |
I391T |
possibly damaging |
Het |
Ppp1r10 |
G |
T |
17: 36,241,516 (GRCm39) |
G764* |
probably null |
Het |
Ptpra |
T |
C |
2: 130,359,707 (GRCm39) |
F158L |
probably damaging |
Het |
Recql |
T |
C |
6: 142,323,918 (GRCm39) |
S59G |
probably benign |
Het |
Sh3yl1 |
G |
A |
12: 30,991,979 (GRCm39) |
D145N |
possibly damaging |
Het |
Slc35f5 |
T |
A |
1: 125,512,922 (GRCm39) |
I52N |
probably damaging |
Het |
Slc51b |
A |
G |
9: 65,322,447 (GRCm39) |
|
probably null |
Het |
Smpd4 |
C |
T |
16: 17,443,671 (GRCm39) |
Q72* |
probably null |
Het |
Spata6 |
A |
G |
4: 111,679,963 (GRCm39) |
D391G |
probably benign |
Het |
Tnc |
T |
A |
4: 63,885,543 (GRCm39) |
D1853V |
possibly damaging |
Het |
Tnks1bp1 |
C |
T |
2: 84,893,058 (GRCm39) |
T333I |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,752,207 (GRCm39) |
I813N |
probably damaging |
Het |
Vwa8 |
T |
A |
14: 79,246,690 (GRCm39) |
H677Q |
probably benign |
Het |
Washc4 |
T |
C |
10: 83,426,883 (GRCm39) |
Y1064H |
probably damaging |
Het |
Wdr82 |
T |
A |
9: 106,063,614 (GRCm39) |
I272K |
probably benign |
Het |
Zc3h12a |
T |
C |
4: 125,013,097 (GRCm39) |
Y589C |
probably damaging |
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 |
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 |
2016-08-02 |