Incidental Mutation 'R4280:Rrs1'
| ID |
322826 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrs1
|
| Ensembl Gene |
ENSMUSG00000061024 |
| Gene Name |
ribosome biogenesis regulator 1 |
| Synonyms |
D1Ertd701e, 5730466A07Rik |
| MMRRC Submission |
041648-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4280 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9615633-9617680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 9616364 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Serine
at position 206
(G206S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071955
(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: G206S
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: G206S
| 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 benign
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 |
0.0926 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (51/51) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap32 |
T |
C |
9: 32,171,185 (GRCm39) |
C1322R |
probably damaging |
Het |
| Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
| Arvcf |
G |
A |
16: 18,216,741 (GRCm39) |
R292H |
probably damaging |
Het |
| Ccdc102a |
C |
A |
8: 95,634,444 (GRCm39) |
G382* |
probably null |
Het |
| Cd274 |
A |
T |
19: 29,357,871 (GRCm39) |
M188L |
probably benign |
Het |
| Cep76 |
T |
A |
18: 67,773,229 (GRCm39) |
D23V |
probably benign |
Het |
| Cimip3 |
T |
C |
17: 47,724,780 (GRCm39) |
M17V |
probably benign |
Het |
| Clec12a |
A |
G |
6: 129,340,892 (GRCm39) |
Y224C |
probably damaging |
Het |
| Cplx2 |
A |
G |
13: 54,527,377 (GRCm39) |
E87G |
probably damaging |
Het |
| Ctr9 |
A |
G |
7: 110,645,930 (GRCm39) |
|
probably benign |
Het |
| Dgat2 |
A |
G |
7: 98,808,204 (GRCm39) |
I157T |
probably damaging |
Het |
| Epha1 |
G |
T |
6: 42,341,986 (GRCm39) |
P355T |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,245 (GRCm39) |
|
probably null |
Het |
| Gmip |
T |
A |
8: 70,266,251 (GRCm39) |
|
probably benign |
Het |
| Hephl1 |
A |
G |
9: 15,023,330 (GRCm39) |
V24A |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,881,761 (GRCm39) |
M771K |
probably damaging |
Het |
| Mov10 |
A |
C |
3: 104,707,095 (GRCm39) |
F635V |
probably damaging |
Het |
| Mtres1 |
A |
T |
10: 43,408,905 (GRCm39) |
F79L |
probably benign |
Het |
| Or10ag60 |
A |
G |
2: 87,438,595 (GRCm39) |
T288A |
possibly damaging |
Het |
| Or5an9 |
A |
G |
19: 12,187,302 (GRCm39) |
Y124C |
probably damaging |
Het |
| Pbrm1 |
T |
C |
14: 30,829,269 (GRCm39) |
|
probably null |
Het |
| Plscr1l1 |
T |
C |
9: 92,225,701 (GRCm39) |
Y8H |
possibly damaging |
Het |
| Plxnd1 |
A |
T |
6: 115,933,056 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
A |
6: 115,933,055 (GRCm39) |
|
probably benign |
Het |
| Pnma5 |
T |
C |
X: 72,079,036 (GRCm39) |
M549V |
probably benign |
Het |
| Polq |
C |
A |
16: 36,902,419 (GRCm39) |
Q2205K |
probably damaging |
Het |
| Ppp4r3c1 |
A |
T |
X: 88,976,105 (GRCm39) |
W31R |
probably damaging |
Het |
| Pramel24 |
A |
G |
4: 143,452,592 (GRCm39) |
T8A |
possibly damaging |
Het |
| Psma8 |
T |
A |
18: 14,854,292 (GRCm39) |
D57E |
probably benign |
Het |
| Rbm47 |
T |
C |
5: 66,183,520 (GRCm39) |
Y361C |
probably damaging |
Het |
| Rec8 |
A |
G |
14: 55,856,091 (GRCm39) |
H11R |
probably damaging |
Het |
| Ric1 |
A |
G |
19: 29,563,950 (GRCm39) |
Y568C |
probably damaging |
Het |
| Rrp36 |
G |
A |
17: 46,983,302 (GRCm39) |
T104I |
probably damaging |
Het |
| Scgb2b6 |
A |
G |
7: 31,318,367 (GRCm39) |
|
noncoding transcript |
Het |
| Skint5 |
T |
A |
4: 113,799,749 (GRCm39) |
K126I |
probably damaging |
Het |
| Slc38a10 |
C |
T |
11: 120,028,704 (GRCm39) |
G202D |
probably damaging |
Het |
| Supt5 |
G |
A |
7: 28,016,498 (GRCm39) |
R761W |
probably damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,184,294 (GRCm39) |
|
probably null |
Het |
| Tob1 |
T |
C |
11: 94,105,148 (GRCm39) |
V228A |
probably benign |
Het |
| Traj44 |
T |
C |
14: 54,411,148 (GRCm39) |
|
probably benign |
Het |
| Trps1 |
G |
A |
15: 50,709,478 (GRCm39) |
L291F |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,585,168 (GRCm39) |
I22042F |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,310,658 (GRCm39) |
Q2078R |
probably benign |
Het |
| Zbtb24 |
T |
C |
10: 41,340,916 (GRCm39) |
S649P |
probably benign |
Het |
| Zfp28 |
A |
T |
7: 6,396,700 (GRCm39) |
Q378H |
probably benign |
Het |
| Zfp429 |
A |
C |
13: 67,538,914 (GRCm39) |
C177G |
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 |
|
|
R0577:Rrs1
|
UTSW |
1 |
9,616,026 (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 |
|
|
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 |
PCR Primer
(F):5'- AGAAGACCAACCTCGTGTG -3'
(R):5'- TTTTCTCGGCTGCGAAGTCC -3'
Sequencing Primer
(F):5'- CGTTGGGGCTACAAGCG -3'
(R):5'- CTGCGAAGTCCCCAAAGAGG -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation