Incidental Mutation 'R4545:Rbks'
ID |
333711 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbks
|
Ensembl Gene |
ENSMUSG00000029136 |
Gene Name |
ribokinase |
Synonyms |
5230400M11Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.343)
|
Stock # |
R4545 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31781783-31854971 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 31781912 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 296
(N296S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031018
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031018]
[ENSMUST00000031024]
[ENSMUST00000201910]
|
AlphaFold |
Q8R1Q9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031018
AA Change: N296S
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000031018 Gene: ENSMUSG00000029136 AA Change: N296S
Domain | Start | End | E-Value | Type |
Pfam:PfkB
|
16 |
315 |
2.1e-66 |
PFAM |
Pfam:Phos_pyr_kin
|
166 |
306 |
9.6e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000031024
|
SMART Domains |
Protein: ENSMUSP00000031024 Gene: ENSMUSG00000106918
Domain | Start | End | E-Value | Type |
Pfam:Ribosomal_L33
|
16 |
60 |
1.3e-7 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200694
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201483
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201620
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201744
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202243
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201923
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202033
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201910
|
SMART Domains |
Protein: ENSMUSP00000144669 Gene: ENSMUSG00000106918
Domain | Start | End | E-Value | Type |
PDB:4CE4|6
|
1 |
49 |
9e-15 |
PDB |
|
Meta Mutation Damage Score |
0.2050 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
Validation Efficiency |
98% (41/42) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the carbohydrate kinase PfkB family. The encoded protein phosphorylates ribose to form ribose-5-phosphate in the presence of ATP and magnesium as a first step in ribose metabolism. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c20 |
A |
C |
13: 4,557,843 (GRCm39) |
V201G |
probably damaging |
Het |
Atf7 |
A |
G |
15: 102,442,762 (GRCm39) |
V449A |
probably benign |
Het |
Ccr1 |
G |
A |
9: 123,764,437 (GRCm39) |
A31V |
probably benign |
Het |
Chrna6 |
A |
T |
8: 27,896,711 (GRCm39) |
S389T |
probably benign |
Het |
Clic6 |
C |
T |
16: 92,289,045 (GRCm39) |
|
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,228,426 (GRCm39) |
R2221* |
probably null |
Het |
Coq8b |
G |
T |
7: 26,932,930 (GRCm39) |
C13F |
probably benign |
Het |
Cspg4 |
T |
A |
9: 56,795,913 (GRCm39) |
L1216Q |
possibly damaging |
Het |
Decr1 |
C |
A |
4: 15,930,979 (GRCm39) |
V118F |
probably damaging |
Het |
Dlec1 |
A |
T |
9: 118,957,146 (GRCm39) |
I796F |
probably damaging |
Het |
Dnajc11 |
T |
A |
4: 152,064,398 (GRCm39) |
D516E |
probably damaging |
Het |
Dock8 |
G |
A |
19: 25,165,722 (GRCm39) |
V1869M |
probably damaging |
Het |
Dst |
A |
G |
1: 34,227,819 (GRCm39) |
D1982G |
probably damaging |
Het |
Gnptab |
G |
A |
10: 88,250,457 (GRCm39) |
D190N |
probably benign |
Het |
Golga4 |
A |
G |
9: 118,385,913 (GRCm39) |
K22E |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,852,381 (GRCm39) |
*1579W |
probably null |
Het |
Ica1l |
A |
G |
1: 60,052,977 (GRCm39) |
|
probably null |
Het |
Ift122 |
T |
A |
6: 115,867,549 (GRCm39) |
L433Q |
probably damaging |
Het |
Iqgap1 |
T |
C |
7: 80,412,315 (GRCm39) |
|
probably null |
Het |
Klra13-ps |
T |
C |
6: 130,268,232 (GRCm39) |
|
noncoding transcript |
Het |
Mndal |
A |
T |
1: 173,703,230 (GRCm39) |
Y58* |
probably null |
Het |
Mvb12b |
G |
C |
2: 33,717,712 (GRCm39) |
P172R |
possibly damaging |
Het |
Ncapg |
T |
C |
5: 45,828,554 (GRCm39) |
F102L |
probably damaging |
Het |
Or1e30 |
T |
C |
11: 73,677,992 (GRCm39) |
V76A |
probably damaging |
Het |
Or5an11 |
T |
C |
19: 12,246,188 (GRCm39) |
V198A |
possibly damaging |
Het |
Or5b97 |
T |
A |
19: 12,878,632 (GRCm39) |
K171* |
probably null |
Het |
Pde8a |
A |
T |
7: 80,977,847 (GRCm39) |
R713S |
probably damaging |
Het |
Sema3c |
G |
A |
5: 17,899,770 (GRCm39) |
V421I |
probably benign |
Het |
Tm9sf1 |
A |
G |
14: 55,875,565 (GRCm39) |
V393A |
possibly damaging |
Het |
Tubgcp2 |
G |
A |
7: 139,575,984 (GRCm39) |
P893L |
possibly damaging |
Het |
Uba52rt |
C |
T |
4: 3,973,244 (GRCm39) |
R106H |
probably benign |
Het |
Vnn3 |
G |
A |
10: 23,732,224 (GRCm39) |
R158H |
probably benign |
Het |
Zfa-ps |
G |
T |
10: 52,421,032 (GRCm39) |
|
noncoding transcript |
Het |
Zfp414 |
T |
C |
17: 33,850,622 (GRCm39) |
|
probably benign |
Het |
Zfp810 |
G |
A |
9: 22,190,041 (GRCm39) |
T289I |
probably damaging |
Het |
Zfp819 |
G |
T |
7: 43,267,209 (GRCm39) |
R488L |
probably damaging |
Het |
Zfp942 |
C |
T |
17: 22,147,285 (GRCm39) |
G448D |
probably benign |
Het |
Zscan12 |
A |
G |
13: 21,550,875 (GRCm39) |
K165E |
possibly damaging |
Het |
|
Other mutations in Rbks |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02019:Rbks
|
APN |
5 |
31,817,361 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02618:Rbks
|
APN |
5 |
31,781,863 (GRCm39) |
nonsense |
probably null |
|
IGL02678:Rbks
|
APN |
5 |
31,830,757 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02719:Rbks
|
APN |
5 |
31,809,145 (GRCm39) |
intron |
probably benign |
|
IGL02947:Rbks
|
APN |
5 |
31,817,407 (GRCm39) |
missense |
probably benign |
|
R0334:Rbks
|
UTSW |
5 |
31,781,863 (GRCm39) |
nonsense |
probably null |
|
R1441:Rbks
|
UTSW |
5 |
31,817,341 (GRCm39) |
missense |
probably benign |
|
R2568:Rbks
|
UTSW |
5 |
31,823,096 (GRCm39) |
missense |
probably damaging |
0.99 |
R4546:Rbks
|
UTSW |
5 |
31,781,912 (GRCm39) |
missense |
probably benign |
0.10 |
R4591:Rbks
|
UTSW |
5 |
31,817,352 (GRCm39) |
missense |
possibly damaging |
0.52 |
R4833:Rbks
|
UTSW |
5 |
31,781,859 (GRCm39) |
missense |
probably benign |
0.00 |
R4967:Rbks
|
UTSW |
5 |
31,781,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R5076:Rbks
|
UTSW |
5 |
31,807,795 (GRCm39) |
nonsense |
probably null |
|
R5214:Rbks
|
UTSW |
5 |
31,807,736 (GRCm39) |
intron |
probably benign |
|
R6051:Rbks
|
UTSW |
5 |
31,809,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R6194:Rbks
|
UTSW |
5 |
31,824,234 (GRCm39) |
missense |
probably benign |
0.05 |
R6607:Rbks
|
UTSW |
5 |
31,805,136 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7246:Rbks
|
UTSW |
5 |
31,805,127 (GRCm39) |
missense |
possibly damaging |
0.58 |
R8270:Rbks
|
UTSW |
5 |
31,807,810 (GRCm39) |
intron |
probably benign |
|
R9070:Rbks
|
UTSW |
5 |
31,854,890 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Rbks
|
UTSW |
5 |
31,805,207 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CATCACTAACTCAAAGAGGGCTTG -3'
(R):5'- TCCTTTTCTGGAACTCTGAAGC -3'
Sequencing Primer
(F):5'- CTCAAAGAGGGCTTGATAACTTC -3'
(R):5'- TGGGTACTAAAGCTTGAACCTC -3'
|
Posted On |
2015-08-18 |