Incidental Mutation 'R4986:Rrs1'
ID |
446600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rrs1
|
Ensembl Gene |
ENSMUSG00000061024 |
Gene Name |
ribosome biogenesis regulator 1 |
Synonyms |
D1Ertd701e, 5730466A07Rik |
MMRRC Submission |
042580-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4986 (G1)
|
Quality Score |
25 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
9615633-9617680 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 9615992 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 82
(E82K)
|
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: E82K
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000071955 Gene: ENSMUSG00000061024 AA Change: E82K
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 |
0.2736 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.5%
- 20x: 89.2%
|
Validation Efficiency |
95% (41/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
A |
T |
6: 142,573,317 (GRCm39) |
C1005S |
probably benign |
Het |
Armh4 |
A |
T |
14: 49,989,111 (GRCm39) |
D619E |
probably damaging |
Het |
Ccdc34 |
T |
C |
2: 109,848,214 (GRCm39) |
M1T |
probably null |
Het |
Ceacam5 |
T |
A |
7: 17,491,758 (GRCm39) |
N709K |
possibly damaging |
Het |
Ces2f |
G |
A |
8: 105,678,657 (GRCm39) |
S298N |
probably benign |
Het |
Defa30 |
T |
A |
8: 21,625,432 (GRCm39) |
Y65* |
probably null |
Het |
Dock3 |
A |
C |
9: 106,809,182 (GRCm39) |
C1314G |
probably damaging |
Het |
Emc2 |
A |
G |
15: 43,375,180 (GRCm39) |
M226V |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,909,636 (GRCm39) |
Y2122C |
probably damaging |
Het |
Gad1 |
A |
G |
2: 70,431,037 (GRCm39) |
D560G |
probably benign |
Het |
Gm9944 |
T |
C |
4: 144,179,760 (GRCm39) |
|
probably benign |
Het |
Gpr137c |
A |
T |
14: 45,483,743 (GRCm39) |
|
probably null |
Het |
Igf2bp2 |
C |
T |
16: 21,889,056 (GRCm39) |
|
probably null |
Het |
Igsf10 |
T |
C |
3: 59,236,027 (GRCm39) |
T1385A |
probably benign |
Het |
Itpr2 |
T |
A |
6: 146,141,840 (GRCm39) |
N1734I |
probably damaging |
Het |
Kbtbd6 |
A |
G |
14: 79,690,049 (GRCm39) |
H248R |
probably damaging |
Het |
Macf1 |
C |
T |
4: 123,284,914 (GRCm39) |
R5650Q |
probably damaging |
Het |
Mdh1 |
A |
G |
11: 21,508,545 (GRCm39) |
F266L |
possibly damaging |
Het |
Mecom |
G |
T |
3: 30,034,848 (GRCm39) |
P466Q |
probably damaging |
Het |
Muc20 |
A |
G |
16: 32,598,009 (GRCm39) |
|
probably benign |
Het |
Or4x11 |
A |
T |
2: 89,867,772 (GRCm39) |
N170Y |
probably damaging |
Het |
Or5w8 |
T |
A |
2: 87,687,858 (GRCm39) |
L113Q |
probably damaging |
Het |
Osmr |
A |
G |
15: 6,846,061 (GRCm39) |
|
probably null |
Het |
Sacs |
T |
A |
14: 61,450,492 (GRCm39) |
Y4179* |
probably null |
Het |
Septin11 |
T |
C |
5: 93,309,100 (GRCm39) |
V203A |
probably damaging |
Het |
Skint9 |
T |
A |
4: 112,248,910 (GRCm39) |
T173S |
probably benign |
Het |
Slain1 |
A |
T |
14: 103,925,541 (GRCm39) |
R296S |
probably damaging |
Het |
Slc36a3 |
T |
A |
11: 55,037,592 (GRCm39) |
*93C |
probably null |
Het |
Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
Srl |
T |
C |
16: 4,314,646 (GRCm39) |
Y332C |
probably benign |
Het |
Ubtf |
G |
A |
11: 102,205,000 (GRCm39) |
H95Y |
probably benign |
Het |
Ugt1a1 |
CAGAGAGAGAGAGA |
CAGAGAGAGAGA |
1: 88,139,706 (GRCm39) |
|
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,090,985 (GRCm39) |
D532N |
probably benign |
Het |
Ybx1 |
C |
T |
4: 119,139,627 (GRCm39) |
V123I |
probably damaging |
Het |
Zfp944 |
A |
T |
17: 22,558,211 (GRCm39) |
H345Q |
probably damaging |
Het |
Zfp993 |
T |
A |
4: 146,742,014 (GRCm39) |
F113I |
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 |
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 |
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'- TGCTGTAGTGGCGATACGTC -3'
(R):5'- TCTTTAGTGTCATCCCGGGC -3'
Sequencing Primer
(F):5'- AGGAGCTGCTGGCCAAG -3'
(R):5'- GCGCTTGTAGCCCCAAC -3'
|
Posted On |
2016-11-22 |