Incidental Mutation 'R4287:Rrs1'
| ID |
368370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rrs1
|
| Ensembl Gene |
ENSMUSG00000061024 |
| Gene Name |
ribosome biogenesis regulator 1 |
| Synonyms |
5730466A07Rik, D1Ertd701e |
| MMRRC Submission |
041652-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4287 (G1)
|
| Quality Score |
20 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
9545408-9547455 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 9546215 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 231
(S231L)
|
| 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: S231L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000071955
Gene: ENSMUSG00000061024
AA Change: S231L
| 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: 99.4%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
| Validation Efficiency |
98% (40/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc5 |
A |
G |
5: 122,800,601 (GRCm38) |
V362A |
probably benign |
Het |
| Ash1l |
T |
A |
3: 89,066,415 (GRCm38) |
C2594S |
probably damaging |
Het |
| Ccdc82 |
C |
A |
9: 13,253,418 (GRCm38) |
Q303K |
probably benign |
Het |
| Cog1 |
A |
G |
11: 113,654,027 (GRCm38) |
Y345C |
probably damaging |
Het |
| Fpgt |
T |
C |
3: 155,091,360 (GRCm38) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,845,232 (GRCm38) |
V408D |
possibly damaging |
Het |
| Gm7135 |
A |
G |
1: 97,400,398 (GRCm38) |
|
noncoding transcript |
Het |
| Il1rn |
T |
C |
2: 24,349,545 (GRCm38) |
L151P |
probably damaging |
Het |
| Itgav |
G |
T |
2: 83,724,840 (GRCm38) |
E36* |
probably null |
Het |
| Kidins220 |
G |
A |
12: 25,056,846 (GRCm38) |
E1433K |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,692,077 (GRCm38) |
C51Y |
probably damaging |
Het |
| Klra3 |
A |
G |
6: 130,334,302 (GRCm38) |
C39R |
probably benign |
Het |
| Lce1i |
A |
G |
3: 92,777,435 (GRCm38) |
S145P |
unknown |
Het |
| Memo1 |
T |
C |
17: 74,255,298 (GRCm38) |
|
probably null |
Het |
| Mpp3 |
G |
A |
11: 102,023,463 (GRCm38) |
A102V |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,063,673 (GRCm38) |
D727E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,552,691 (GRCm38) |
I107V |
probably benign |
Het |
| Or5h18 |
A |
T |
16: 59,027,613 (GRCm38) |
M98K |
probably benign |
Het |
| Pnn |
C |
T |
12: 59,072,170 (GRCm38) |
T513I |
possibly damaging |
Het |
| Ric8a |
A |
G |
7: 140,861,422 (GRCm38) |
Y210C |
probably damaging |
Het |
| Ripor2 |
G |
A |
13: 24,725,009 (GRCm38) |
V1037M |
probably damaging |
Het |
| Rreb1 |
A |
T |
13: 37,931,931 (GRCm38) |
T1089S |
probably benign |
Het |
| Sec23ip |
A |
G |
7: 128,777,333 (GRCm38) |
D838G |
probably benign |
Het |
| Setbp1 |
T |
C |
18: 78,859,061 (GRCm38) |
I464V |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm38) |
V141M |
probably benign |
Het |
| Slc41a3 |
A |
T |
6: 90,640,922 (GRCm38) |
H310L |
probably benign |
Het |
| Smurf1 |
A |
G |
5: 144,891,458 (GRCm38) |
S363P |
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,543,509 (GRCm38) |
R1269Q |
probably benign |
Het |
| Tmed3 |
A |
G |
9: 89,704,898 (GRCm38) |
S10P |
probably benign |
Het |
| Tomm70a |
T |
G |
16: 57,140,622 (GRCm38) |
Y313D |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 30,988,065 (GRCm38) |
E810G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,714,674 (GRCm38) |
I52T |
probably damaging |
Het |
| Unc5d |
T |
A |
8: 28,719,796 (GRCm38) |
Y432F |
probably benign |
Het |
| Vmn2r97 |
A |
T |
17: 18,948,075 (GRCm38) |
|
probably benign |
Het |
| Zfp629 |
T |
C |
7: 127,611,938 (GRCm38) |
Y233C |
probably damaging |
Het |
| Zfp986 |
T |
C |
4: 145,892,518 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Rrs1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03098:Rrs1
|
UTSW |
1 |
9,546,103 (GRCm38) |
frame shift |
probably null |
|
|
PIT1430001:Rrs1
|
UTSW |
1 |
9,545,925 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0207:Rrs1
|
UTSW |
1 |
9,545,767 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0207:Rrs1
|
UTSW |
1 |
9,545,762 (GRCm38) |
splice site |
probably null |
|
|
R0577:Rrs1
|
UTSW |
1 |
9,545,801 (GRCm38) |
splice site |
probably null |
|
|
R1165:Rrs1
|
UTSW |
1 |
9,545,767 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1222:Rrs1
|
UTSW |
1 |
9,545,855 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1238:Rrs1
|
UTSW |
1 |
9,545,801 (GRCm38) |
splice site |
probably null |
|
|
R1397:Rrs1
|
UTSW |
1 |
9,545,767 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R1598:Rrs1
|
UTSW |
1 |
9,545,912 (GRCm38) |
missense |
probably benign |
0.15 |
|
R2338:Rrs1
|
UTSW |
1 |
9,545,801 (GRCm38) |
splice site |
probably null |
|
|
R4280:Rrs1
|
UTSW |
1 |
9,546,139 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R4287:Rrs1
|
UTSW |
1 |
9,546,223 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4298:Rrs1
|
UTSW |
1 |
9,546,223 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R4326:Rrs1
|
UTSW |
1 |
9,546,341 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R4475:Rrs1
|
UTSW |
1 |
9,545,585 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4566:Rrs1
|
UTSW |
1 |
9,546,227 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4986:Rrs1
|
UTSW |
1 |
9,545,767 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6597:Rrs1
|
UTSW |
1 |
9,546,376 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7529:Rrs1
|
UTSW |
1 |
9,546,192 (GRCm38) |
missense |
probably benign |
|
|
R7728:Rrs1
|
UTSW |
1 |
9,546,398 (GRCm38) |
missense |
possibly damaging |
0.78 |
|
R8134:Rrs1
|
UTSW |
1 |
9,545,420 (GRCm38) |
unclassified |
probably benign |
|
|
R8799:Rrs1
|
UTSW |
1 |
9,545,594 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9060:Rrs1
|
UTSW |
1 |
9,546,452 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9360:Rrs1
|
UTSW |
1 |
9,546,620 (GRCm38) |
makesense |
probably null |
|
|
R9609:Rrs1
|
UTSW |
1 |
9,546,293 (GRCm38) |
missense |
probably benign |
0.30 |
|
R9685:Rrs1
|
UTSW |
1 |
9,546,165 (GRCm38) |
missense |
probably benign |
0.44 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGACCAGTTCGCCAAGAGG -3'
(R):5'- CTTGCCAGCTAAAGCAGAAGG -3'
Sequencing Primer
(F):5'- CAGTTCGCCAAGAGGACTCAG -3'
(R):5'- AGGAATGCTTTTTGCTTCCCAAG -3'
|
| Posted On |
2016-02-02 |
Incidental Mutation