Incidental Mutation 'R0577:Rrs1'
| ID |
192606 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrs1
|
| Ensembl Gene |
ENSMUSG00000061024 |
| Gene Name |
ribosome biogenesis regulator 1 |
| Synonyms |
D1Ertd701e, 5730466A07Rik |
| MMRRC Submission |
038767-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0577 (G1)
|
| Quality Score |
56 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9615633-9617680 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 9616026 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116627
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027044]
[ENSMUST00000072079]
[ENSMUST00000130927]
[ENSMUST00000144177]
[ENSMUST00000186467]
|
| AlphaFold |
Q9CYH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027044
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000072079
AA Change: P93Q
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: P93Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
22 |
N/A |
INTRINSIC |
|
Pfam:RRS1
|
31 |
193 |
3.5e-62 |
PFAM |
|
low complexity region
|
302 |
337 |
N/A |
INTRINSIC |
|
low complexity region
|
351 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000130927
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000144177
|
| SMART Domains |
Protein: ENSMUSP00000116627
Gene: ENSMUSG00000025911
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Fe-ADH
|
50 |
454 |
2.1e-105 |
PFAM |
|
Pfam:Fe-ADH_2
|
53 |
155 |
6.5e-13 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000186467
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190654
|
| Meta Mutation Damage Score |
0.5563 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
97% (30/31) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,910 (GRCm39) |
H336Q |
probably benign |
Het |
| Abcc2 |
A |
T |
19: 43,807,840 (GRCm39) |
D827V |
probably damaging |
Het |
| Asph |
G |
T |
4: 9,604,620 (GRCm39) |
A139E |
probably benign |
Het |
| Bag3 |
T |
C |
7: 128,125,611 (GRCm39) |
M10T |
probably benign |
Het |
| Bod1l |
T |
C |
5: 41,952,230 (GRCm39) |
D2894G |
probably damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,332 (GRCm39) |
S47P |
probably damaging |
Het |
| Dchs1 |
C |
T |
7: 105,413,462 (GRCm39) |
V1118I |
possibly damaging |
Het |
| Ddi2 |
A |
T |
4: 141,411,818 (GRCm39) |
C365S |
possibly damaging |
Het |
| Eef1g |
A |
G |
19: 8,950,406 (GRCm39) |
D264G |
probably benign |
Het |
| Fbxw17 |
T |
C |
13: 50,585,619 (GRCm39) |
L274P |
probably benign |
Het |
| Gpc6 |
A |
G |
14: 117,673,420 (GRCm39) |
T226A |
probably benign |
Het |
| Klf12 |
T |
A |
14: 100,260,585 (GRCm39) |
Y48F |
probably damaging |
Het |
| Klhdc4 |
C |
T |
8: 122,548,090 (GRCm39) |
A67T |
probably damaging |
Het |
| Macir |
C |
T |
1: 97,589,551 (GRCm39) |
|
probably null |
Het |
| Madd |
C |
T |
2: 90,968,740 (GRCm39) |
E1596K |
possibly damaging |
Het |
| Mov10l1 |
A |
G |
15: 88,889,930 (GRCm39) |
Y533C |
probably damaging |
Het |
| Mtif2 |
G |
T |
11: 29,490,862 (GRCm39) |
|
probably null |
Het |
| Mtmr6 |
G |
A |
14: 60,534,087 (GRCm39) |
V442I |
possibly damaging |
Het |
| Or4k15b |
C |
T |
14: 50,272,249 (GRCm39) |
G204R |
probably damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,061 (GRCm39) |
D270E |
probably benign |
Het |
| Or9i16 |
T |
C |
19: 13,865,167 (GRCm39) |
T136A |
probably damaging |
Het |
| Pdcd11 |
A |
G |
19: 47,087,271 (GRCm39) |
N277S |
probably benign |
Het |
| Pias2 |
A |
T |
18: 77,184,977 (GRCm39) |
L12F |
probably damaging |
Het |
| Potefam1 |
G |
T |
2: 111,024,694 (GRCm39) |
Q57K |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,334,106 (GRCm39) |
R3105L |
probably damaging |
Het |
| Rps11 |
A |
G |
7: 44,772,274 (GRCm39) |
V111A |
probably benign |
Het |
| Thsd7a |
T |
C |
6: 12,321,047 (GRCm39) |
T1543A |
possibly damaging |
Het |
| Vmn2r86 |
C |
A |
10: 130,288,444 (GRCm39) |
R352S |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,125,938 (GRCm39) |
N178S |
probably benign |
Het |
| Zfp955a |
A |
T |
17: 33,461,068 (GRCm39) |
F355I |
probably damaging |
Het |
|
| Other mutations in Rrs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03098:Rrs1
|
UTSW |
1 |
9,616,328 (GRCm39) |
frame shift |
probably null |
|
|
PIT1430001:Rrs1
|
UTSW |
1 |
9,616,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0207:Rrs1
|
UTSW |
1 |
9,615,992 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0207:Rrs1
|
UTSW |
1 |
9,615,987 (GRCm39) |
splice site |
probably null |
|
|
R1165:Rrs1
|
UTSW |
1 |
9,615,992 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1222:Rrs1
|
UTSW |
1 |
9,616,080 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1238:Rrs1
|
UTSW |
1 |
9,616,026 (GRCm39) |
splice site |
probably null |
|
|
R1397:Rrs1
|
UTSW |
1 |
9,615,992 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1598:Rrs1
|
UTSW |
1 |
9,616,137 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2338:Rrs1
|
UTSW |
1 |
9,616,026 (GRCm39) |
splice site |
probably null |
|
|
R4280:Rrs1
|
UTSW |
1 |
9,616,364 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4287:Rrs1
|
UTSW |
1 |
9,616,448 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4287:Rrs1
|
UTSW |
1 |
9,616,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4298:Rrs1
|
UTSW |
1 |
9,616,448 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R4326:Rrs1
|
UTSW |
1 |
9,616,566 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4475:Rrs1
|
UTSW |
1 |
9,615,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4566:Rrs1
|
UTSW |
1 |
9,616,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4986:Rrs1
|
UTSW |
1 |
9,615,992 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6597:Rrs1
|
UTSW |
1 |
9,616,601 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7529:Rrs1
|
UTSW |
1 |
9,616,417 (GRCm39) |
missense |
probably benign |
|
|
R7728:Rrs1
|
UTSW |
1 |
9,616,623 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8134:Rrs1
|
UTSW |
1 |
9,615,645 (GRCm39) |
unclassified |
probably benign |
|
|
R8799:Rrs1
|
UTSW |
1 |
9,615,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9060:Rrs1
|
UTSW |
1 |
9,616,677 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9360:Rrs1
|
UTSW |
1 |
9,616,845 (GRCm39) |
makesense |
probably null |
|
|
R9609:Rrs1
|
UTSW |
1 |
9,616,518 (GRCm39) |
missense |
probably benign |
0.30 |
|
R9685:Rrs1
|
UTSW |
1 |
9,616,390 (GRCm39) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
|
| Posted On |
2014-05-14 |
Incidental Mutation