Incidental Mutation 'R4552:Rrp1b'
ID |
334037 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrp1b
|
Ensembl Gene |
ENSMUSG00000058392 |
Gene Name |
ribosomal RNA processing 1B |
Synonyms |
2600005C20Rik |
MMRRC Submission |
041783-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4552 (G1)
|
Quality Score |
195 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
32255087-32281839 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
G to A
at 32274984 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: 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: ENSMUST00000150187
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
Validation Efficiency |
97% (62/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
Arhgap33 |
A |
T |
7: 30,218,533 (GRCm39) |
|
probably benign |
Het |
Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
Camta1 |
T |
C |
4: 151,876,959 (GRCm39) |
R79G |
probably damaging |
Het |
Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
Cep128 |
T |
C |
12: 91,260,936 (GRCm39) |
E309G |
probably damaging |
Het |
Chit1 |
A |
G |
1: 134,071,789 (GRCm39) |
T100A |
probably benign |
Het |
Dalrd3 |
A |
G |
9: 108,449,429 (GRCm39) |
D454G |
possibly damaging |
Het |
Ddx19a |
G |
A |
8: 111,705,198 (GRCm39) |
Q308* |
probably null |
Het |
Dmxl2 |
T |
C |
9: 54,359,047 (GRCm39) |
N395S |
probably damaging |
Het |
Dnah17 |
T |
C |
11: 117,943,769 (GRCm39) |
D3125G |
possibly damaging |
Het |
Dnah5 |
T |
C |
15: 28,397,300 (GRCm39) |
V3331A |
probably benign |
Het |
Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
Dner |
T |
C |
1: 84,361,578 (GRCm39) |
Y677C |
probably damaging |
Het |
Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
Hid1 |
G |
A |
11: 115,249,505 (GRCm39) |
T240M |
possibly damaging |
Het |
Igbp1b |
T |
A |
6: 138,635,112 (GRCm39) |
M111L |
probably benign |
Het |
Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
Klk4 |
C |
A |
7: 43,533,443 (GRCm39) |
H101N |
probably benign |
Het |
Mrgpra2b |
C |
A |
7: 47,113,754 (GRCm39) |
S300I |
probably benign |
Het |
Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
Nbas |
T |
C |
12: 13,385,938 (GRCm39) |
|
probably null |
Het |
Nif3l1 |
C |
T |
1: 58,488,483 (GRCm39) |
|
probably benign |
Het |
Noct |
T |
A |
3: 51,157,589 (GRCm39) |
I309N |
probably benign |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Odf2l |
A |
T |
3: 144,856,844 (GRCm39) |
T600S |
probably benign |
Het |
Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
Or1m1 |
A |
G |
9: 18,666,430 (GRCm39) |
V167A |
possibly damaging |
Het |
Or2y1e |
A |
T |
11: 49,218,777 (GRCm39) |
M180L |
probably benign |
Het |
Or6c217 |
T |
C |
10: 129,737,992 (GRCm39) |
M196V |
probably benign |
Het |
Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
Pclo |
T |
C |
5: 14,719,285 (GRCm39) |
S1141P |
unknown |
Het |
Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
Ppargc1a |
C |
T |
5: 51,620,557 (GRCm39) |
|
probably benign |
Het |
Ptchd4 |
A |
T |
17: 42,813,346 (GRCm39) |
I416L |
probably benign |
Het |
Rhpn1 |
G |
A |
15: 75,585,968 (GRCm39) |
R627H |
probably benign |
Het |
Ric8a |
G |
A |
7: 140,441,250 (GRCm39) |
G182S |
probably damaging |
Het |
Rims1 |
T |
C |
1: 22,443,718 (GRCm39) |
D895G |
probably damaging |
Het |
Rtf1 |
T |
A |
2: 119,561,210 (GRCm39) |
D636E |
probably benign |
Het |
Scn3a |
T |
C |
2: 65,354,523 (GRCm39) |
D333G |
probably benign |
Het |
Sema6a |
A |
G |
18: 47,424,990 (GRCm39) |
L207P |
probably damaging |
Het |
Shcbp1 |
A |
T |
8: 4,799,779 (GRCm39) |
Y160* |
probably null |
Het |
Slc27a1 |
A |
T |
8: 72,032,710 (GRCm39) |
|
probably null |
Het |
Ston2 |
C |
T |
12: 91,608,646 (GRCm39) |
R818Q |
probably damaging |
Het |
Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
Tjap1 |
A |
T |
17: 46,570,953 (GRCm39) |
|
probably null |
Het |
Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
Vmn1r57 |
A |
G |
7: 5,223,667 (GRCm39) |
D64G |
possibly damaging |
Het |
Vmn2r73 |
T |
A |
7: 85,525,055 (GRCm39) |
D31V |
probably benign |
Het |
Vmn2r-ps41 |
A |
T |
7: 9,180,063 (GRCm39) |
|
noncoding transcript |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGGTGATGGAGCTAAGTC -3'
(R):5'- AGAACCAGGAGACCAGTGTC -3'
Sequencing Primer
(F):5'- CTAAGTCAGGCTCAGCAGTCTTAG -3'
(R):5'- CCAGTGTCTGCAGAGGAAATGAC -3'
|
Posted On |
2015-08-18 |