Incidental Mutation 'R1238:Rrs1'
ID |
233276 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrs1
|
Ensembl Gene |
ENSMUSG00000061024 |
Gene Name |
ribosome biogenesis regulator 1 |
Synonyms |
D1Ertd701e, 5730466A07Rik |
MMRRC Submission |
039305-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1238 (G1)
|
Quality Score |
21 |
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: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.2%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc4 |
G |
A |
14: 118,835,051 (GRCm39) |
|
probably benign |
Het |
BC051665 |
T |
A |
13: 60,932,451 (GRCm39) |
N78I |
probably damaging |
Het |
Cacna1c |
C |
T |
6: 118,589,586 (GRCm39) |
R1446H |
probably damaging |
Het |
Cep290 |
A |
C |
10: 100,353,725 (GRCm39) |
Q819H |
probably damaging |
Het |
Cep70 |
T |
C |
9: 99,136,318 (GRCm39) |
I7T |
probably benign |
Het |
Chd1l |
C |
T |
3: 97,490,047 (GRCm39) |
E503K |
probably benign |
Het |
Cit |
T |
A |
5: 115,989,280 (GRCm39) |
F56I |
probably benign |
Het |
Colec10 |
T |
C |
15: 54,325,835 (GRCm39) |
F222L |
possibly damaging |
Het |
Crocc |
G |
A |
4: 140,762,675 (GRCm39) |
A769V |
probably benign |
Het |
Ctcf |
T |
C |
8: 106,397,909 (GRCm39) |
|
probably benign |
Het |
Ect2l |
T |
C |
10: 18,018,852 (GRCm39) |
R607G |
possibly damaging |
Het |
Efcab6 |
T |
G |
15: 83,817,338 (GRCm39) |
E745A |
probably benign |
Het |
Eif1ad |
T |
G |
19: 5,420,111 (GRCm39) |
*171G |
probably null |
Het |
Gvin-ps6 |
A |
G |
7: 106,022,264 (GRCm39) |
V246A |
probably damaging |
Het |
H2-D1 |
A |
G |
17: 35,482,908 (GRCm39) |
D146G |
probably damaging |
Het |
Iqub |
C |
T |
6: 24,505,884 (GRCm39) |
R8H |
probably benign |
Het |
Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
Kdm5d |
G |
A |
Y: 941,282 (GRCm39) |
R1161H |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,897,648 (GRCm39) |
S675P |
probably benign |
Het |
Mfsd4b3-ps |
A |
T |
10: 39,823,222 (GRCm39) |
V346E |
probably damaging |
Het |
Or1j21 |
A |
T |
2: 36,683,601 (GRCm39) |
M118L |
probably damaging |
Het |
Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
Or7d11 |
T |
A |
9: 19,966,757 (GRCm39) |
M1L |
probably benign |
Het |
P2rx1 |
A |
C |
11: 72,903,784 (GRCm39) |
K282T |
probably damaging |
Het |
Parp14 |
G |
A |
16: 35,677,130 (GRCm39) |
A946V |
probably benign |
Het |
Pdia3 |
G |
A |
2: 121,262,858 (GRCm39) |
G275S |
probably damaging |
Het |
Ptprj |
A |
T |
2: 90,274,758 (GRCm39) |
|
probably null |
Het |
Pwp1 |
A |
G |
10: 85,721,726 (GRCm39) |
I411V |
probably benign |
Het |
Rnaset2b |
T |
C |
17: 7,256,169 (GRCm39) |
S12P |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,774,589 (GRCm39) |
E1189G |
probably damaging |
Het |
Slc25a21 |
T |
A |
12: 56,785,272 (GRCm39) |
I202F |
probably benign |
Het |
Tcfl5 |
A |
G |
2: 180,264,440 (GRCm39) |
V472A |
probably benign |
Het |
Ttc12 |
A |
T |
9: 49,369,487 (GRCm39) |
|
probably benign |
Het |
Ugt2b1 |
T |
G |
5: 87,073,988 (GRCm39) |
I124L |
probably benign |
Het |
Usp14 |
A |
T |
18: 9,997,763 (GRCm39) |
N357K |
probably benign |
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 |
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 |
PCR Primer
(F):5'- GACAACCCGGAAGTGATCTTTCCTC -3'
(R):5'- GGCACCTCGATCAGCCATTCTTTAG -3'
Sequencing Primer
(F):5'- TGTAGTGGCGATACGTCCC -3'
(R):5'- GATCAGCCATTCTTTAGTGTCATC -3'
|
Posted On |
2014-09-23 |