Incidental Mutation 'R6607:Rbks'
ID |
525731 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbks
|
Ensembl Gene |
ENSMUSG00000029136 |
Gene Name |
ribokinase |
Synonyms |
5230400M11Rik |
MMRRC Submission |
044730-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.343)
|
Stock # |
R6607 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
31781783-31854971 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31805136 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 243
(V243M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031018
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031018]
[ENSMUST00000201910]
|
AlphaFold |
Q8R1Q9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031018
AA Change: V243M
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000031018 Gene: ENSMUSG00000029136 AA Change: V243M
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 |
noncoding transcript
Transcript: ENSMUST00000200694
|
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201999
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202033
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202243
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
Validation Efficiency |
96% (27/28) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A4galt |
T |
C |
15: 83,112,507 (GRCm39) |
D92G |
possibly damaging |
Het |
Ace |
A |
T |
11: 105,863,203 (GRCm39) |
H326L |
possibly damaging |
Het |
Adtrp |
A |
G |
13: 41,931,087 (GRCm39) |
F167L |
probably benign |
Het |
Agbl2 |
A |
G |
2: 90,631,670 (GRCm39) |
T343A |
probably damaging |
Het |
Cacna1a |
A |
T |
8: 85,306,121 (GRCm39) |
I1290F |
probably damaging |
Het |
Cdh4 |
G |
A |
2: 179,515,889 (GRCm39) |
V356I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,847,486 (GRCm39) |
V1417A |
probably benign |
Het |
Ctbs |
A |
G |
3: 146,163,128 (GRCm39) |
D172G |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,445,346 (GRCm39) |
T4161A |
possibly damaging |
Het |
Dut |
A |
G |
2: 125,098,787 (GRCm39) |
D140G |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,831,180 (GRCm39) |
D2162G |
unknown |
Het |
Esyt2 |
G |
A |
12: 116,332,360 (GRCm39) |
D781N |
probably benign |
Het |
Fam174b |
T |
C |
7: 73,416,312 (GRCm39) |
L135P |
probably damaging |
Het |
Fbxo15 |
A |
T |
18: 84,977,270 (GRCm39) |
T106S |
possibly damaging |
Het |
Foxq1 |
A |
G |
13: 31,743,129 (GRCm39) |
D77G |
possibly damaging |
Het |
Gclm |
G |
A |
3: 122,049,264 (GRCm39) |
|
probably null |
Het |
Gcn1 |
T |
A |
5: 115,747,537 (GRCm39) |
S1677T |
probably damaging |
Het |
Hamp2 |
T |
A |
7: 30,622,013 (GRCm39) |
R59* |
probably null |
Het |
Herc1 |
C |
T |
9: 66,325,849 (GRCm39) |
A1441V |
probably benign |
Het |
Lrp1 |
G |
A |
10: 127,396,005 (GRCm39) |
H2422Y |
probably damaging |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Homo |
Slc17a4 |
T |
C |
13: 24,089,397 (GRCm39) |
|
probably null |
Het |
Slc29a1 |
A |
C |
17: 45,899,853 (GRCm39) |
|
probably null |
Het |
Tenm2 |
A |
G |
11: 35,954,602 (GRCm39) |
|
probably null |
Het |
Tmem26 |
T |
A |
10: 68,614,543 (GRCm39) |
H319Q |
probably benign |
Het |
Vmn1r203 |
A |
G |
13: 22,708,891 (GRCm39) |
Y224C |
probably benign |
Het |
Vmn1r223 |
T |
C |
13: 23,433,919 (GRCm39) |
I171T |
probably damaging |
Het |
Vmn2r101 |
T |
C |
17: 19,832,296 (GRCm39) |
L764S |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,226,731 (GRCm39) |
H369R |
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 |
R4545:Rbks
|
UTSW |
5 |
31,781,912 (GRCm39) |
missense |
probably benign |
0.10 |
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 |
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'- CCAATGACTTAGCAGAGGTCAG -3'
(R):5'- TGTTTCCTAAAGGGCAGACC -3'
Sequencing Primer
(F):5'- AGGGCTCTCCTGTTTGGCTATC -3'
(R):5'- AGACCTGAGCAGACCTCG -3'
|
Posted On |
2018-06-22 |