Incidental Mutation 'R2975:Rrp1b'
ID |
255357 |
Institutional Source |
Beutler Lab
|
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 # |
R2975 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
17 |
Chromosomal Location |
32255087-32281839 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32277547 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 609
(V609E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000080085
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081339]
[ENSMUST00000150469]
|
AlphaFold |
Q91YK2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000081339
AA Change: V609E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000080085 Gene: ENSMUSG00000058392 AA Change: V609E
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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abi1 |
T |
C |
2: 22,847,099 (GRCm39) |
N251D |
probably damaging |
Het |
Cdca3 |
A |
T |
6: 124,807,616 (GRCm39) |
|
probably null |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fut8 |
T |
C |
12: 77,411,787 (GRCm39) |
V83A |
probably benign |
Het |
Gnb1l |
T |
C |
16: 18,383,016 (GRCm39) |
S352P |
probably damaging |
Het |
Hmgxb3 |
A |
T |
18: 61,296,038 (GRCm39) |
Y323* |
probably null |
Het |
Katna1 |
A |
T |
10: 7,619,473 (GRCm39) |
K160N |
probably benign |
Het |
Kif7 |
C |
A |
7: 79,360,008 (GRCm39) |
A410S |
probably damaging |
Het |
Mrpl43 |
T |
C |
19: 44,994,498 (GRCm39) |
|
probably null |
Het |
Muc6 |
T |
A |
7: 141,216,951 (GRCm39) |
E2574V |
possibly damaging |
Het |
Naip6 |
A |
G |
13: 100,424,695 (GRCm39) |
V1199A |
probably damaging |
Het |
Ntn4 |
A |
G |
10: 93,480,753 (GRCm39) |
Y122C |
probably damaging |
Het |
Pon3 |
A |
G |
6: 5,232,345 (GRCm39) |
I225T |
probably damaging |
Het |
Scube1 |
T |
C |
15: 83,543,299 (GRCm39) |
T180A |
probably damaging |
Het |
Tas2r136 |
C |
A |
6: 132,754,972 (GRCm39) |
V52L |
probably damaging |
Het |
Tas2r138 |
A |
G |
6: 40,590,198 (GRCm39) |
I16T |
probably benign |
Het |
Traf3ip2 |
A |
C |
10: 39,502,536 (GRCm39) |
Q228P |
probably benign |
Het |
Vmn2r54 |
A |
G |
7: 12,369,919 (GRCm39) |
M48T |
possibly damaging |
Het |
Washc5 |
T |
C |
15: 59,217,207 (GRCm39) |
N787D |
probably damaging |
Het |
Zbed6 |
T |
C |
1: 133,585,975 (GRCm39) |
Y454C |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGCAGAAGTGAGGTCTGTGC -3'
(R):5'- TCTCTCACCAGGTAGAATGGAG -3'
Sequencing Primer
(F):5'- TTCCTGACAGAGCTGGTGCAAG -3'
(R):5'- TCACCAGGTAGAATGGAGCACTTG -3'
|
Posted On |
2014-12-29 |