Incidental Mutation 'R4475:Rrs1'
| ID |
330508 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrs1
|
| Ensembl Gene |
ENSMUSG00000061024 |
| Gene Name |
ribosome biogenesis regulator 1 |
| Synonyms |
D1Ertd701e, 5730466A07Rik |
| MMRRC Submission |
041732-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4475 (G1)
|
| Quality Score |
170 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9615633-9617680 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 9615810 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 21
(L21P)
|
| 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: L21P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: L21P
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.8%
|
| Validation Efficiency |
97% (38/39) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630010A05Rik |
T |
A |
16: 14,407,227 (GRCm39) |
I52N |
possibly damaging |
Het |
| Adgra3 |
A |
T |
5: 50,159,240 (GRCm39) |
Y337N |
probably damaging |
Het |
| Aga |
T |
C |
8: 53,964,871 (GRCm39) |
L11P |
probably damaging |
Het |
| Akap6 |
T |
C |
12: 53,188,426 (GRCm39) |
F1947L |
probably benign |
Het |
| Atp6v1c1 |
T |
C |
15: 38,677,817 (GRCm39) |
I114T |
probably benign |
Het |
| Bltp1 |
A |
G |
3: 37,094,544 (GRCm39) |
T904A |
probably damaging |
Het |
| Dbh |
T |
A |
2: 27,070,984 (GRCm39) |
|
probably null |
Het |
| Dgkh |
T |
C |
14: 78,827,318 (GRCm39) |
D858G |
possibly damaging |
Het |
| Dlx5 |
T |
C |
6: 6,881,663 (GRCm39) |
Y75C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,875,959 (GRCm39) |
F529L |
probably benign |
Het |
| Epg5 |
A |
C |
18: 77,991,723 (GRCm39) |
D140A |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,180,716 (GRCm39) |
D402N |
probably benign |
Het |
| Hells |
A |
G |
19: 38,933,973 (GRCm39) |
T265A |
probably damaging |
Het |
| Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
| Hspa8 |
T |
A |
9: 40,715,442 (GRCm39) |
|
probably benign |
Het |
| Ighm |
A |
G |
12: 113,384,513 (GRCm39) |
|
probably benign |
Het |
| Nedd4 |
C |
T |
9: 72,578,521 (GRCm39) |
R78* |
probably null |
Het |
| Nrxn1 |
G |
T |
17: 91,009,410 (GRCm39) |
N388K |
probably damaging |
Het |
| Oprk1 |
T |
A |
1: 5,672,824 (GRCm39) |
Y320* |
probably null |
Het |
| Or10j2 |
T |
C |
1: 173,098,480 (GRCm39) |
V246A |
probably damaging |
Het |
| Or9s27 |
T |
C |
1: 92,516,301 (GRCm39) |
V83A |
probably benign |
Het |
| Parn |
A |
G |
16: 13,482,549 (GRCm39) |
S100P |
probably benign |
Het |
| Piezo2 |
A |
G |
18: 63,235,170 (GRCm39) |
L809P |
probably damaging |
Het |
| Plek |
C |
T |
11: 16,935,528 (GRCm39) |
|
probably null |
Het |
| Prg4 |
T |
C |
1: 150,330,610 (GRCm39) |
|
probably benign |
Het |
| Siah1b |
G |
A |
X: 162,854,688 (GRCm39) |
P131S |
probably damaging |
Het |
| Sim2 |
T |
C |
16: 93,926,650 (GRCm39) |
S625P |
probably benign |
Het |
| Smpd5 |
T |
C |
15: 76,178,926 (GRCm39) |
L98P |
probably damaging |
Het |
| Srpra |
A |
G |
9: 35,124,155 (GRCm39) |
K34E |
possibly damaging |
Het |
| Tbc1d2 |
A |
G |
4: 46,609,080 (GRCm39) |
V719A |
possibly damaging |
Het |
| Tmem52b |
C |
T |
6: 129,491,219 (GRCm39) |
H37Y |
probably benign |
Het |
| Tnip1 |
A |
G |
11: 54,830,422 (GRCm39) |
|
probably null |
Het |
| Trim3 |
A |
G |
7: 105,267,009 (GRCm39) |
Y457H |
probably damaging |
Het |
| Usp34 |
T |
C |
11: 23,407,975 (GRCm39) |
I2600T |
possibly damaging |
Het |
| Vmn2r129 |
T |
G |
4: 156,691,085 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp365 |
C |
A |
10: 67,724,750 (GRCm39) |
K379N |
possibly 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 |
|
|
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 |
|
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'- GGAAGTGATCTTTCCTCTTCCGG -3'
(R):5'- TTCTTCTTGGGACGGATTCC -3'
Sequencing Primer
(F):5'- GATTACGGGTCCGGACGTC -3'
(R):5'- ACGGATTCCCTTAAGGCGC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation