Incidental Mutation 'IGL02618:Rbks'
ID |
300749 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Rbks
|
Ensembl Gene |
ENSMUSG00000029136 |
Gene Name |
ribokinase |
Synonyms |
5230400M11Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.343)
|
Stock # |
IGL02618
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
31781783-31854971 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
A to T
at 31781863 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Stop codon
at position 312
(Y312*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000031018
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031018]
[ENSMUST00000031024]
[ENSMUST00000201910]
|
AlphaFold |
Q8R1Q9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000031018
AA Change: Y312*
|
SMART Domains |
Protein: ENSMUSP00000031018 Gene: ENSMUSG00000029136 AA Change: Y312*
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: ENSMUST00000201923
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202953
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202655
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202243
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201999
|
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 |
0.9755 |
Coding Region Coverage |
|
Validation Efficiency |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700097O09Rik |
G |
A |
12: 55,104,086 (GRCm39) |
Q178* |
probably null |
Het |
Adgre1 |
T |
A |
17: 57,751,021 (GRCm39) |
V565E |
possibly damaging |
Het |
Arfgef2 |
C |
A |
2: 166,695,233 (GRCm39) |
N535K |
probably damaging |
Het |
Bbx |
A |
G |
16: 50,068,161 (GRCm39) |
L161S |
probably damaging |
Het |
Bclaf1 |
T |
C |
10: 20,199,274 (GRCm39) |
S224P |
probably damaging |
Het |
Car2 |
A |
G |
3: 14,963,032 (GRCm39) |
D189G |
probably benign |
Het |
Catsperb |
A |
T |
12: 101,446,983 (GRCm39) |
|
probably benign |
Het |
Ccdc88c |
C |
T |
12: 100,879,812 (GRCm39) |
V1770I |
probably benign |
Het |
Cebpe |
T |
C |
14: 54,948,234 (GRCm39) |
D203G |
probably damaging |
Het |
Chn2 |
A |
G |
6: 54,197,422 (GRCm39) |
N104S |
probably damaging |
Het |
Clec2i |
G |
A |
6: 128,873,464 (GRCm39) |
C231Y |
probably damaging |
Het |
Col4a5 |
C |
T |
X: 140,466,678 (GRCm39) |
P1557S |
probably damaging |
Het |
Creb3l1 |
T |
C |
2: 91,813,543 (GRCm39) |
N498S |
probably benign |
Het |
Ctnnal1 |
A |
T |
4: 56,817,060 (GRCm39) |
D587E |
probably benign |
Het |
Dnmt3l |
T |
C |
10: 77,889,856 (GRCm39) |
|
probably benign |
Het |
Dock7 |
A |
G |
4: 98,971,265 (GRCm39) |
V100A |
probably benign |
Het |
Frk |
C |
T |
10: 34,459,960 (GRCm39) |
T185I |
possibly damaging |
Het |
Frmd4b |
G |
A |
6: 97,285,066 (GRCm39) |
Q340* |
probably null |
Het |
Lima1 |
C |
A |
15: 99,700,097 (GRCm39) |
|
probably benign |
Het |
Mtcl2 |
A |
G |
2: 156,882,486 (GRCm39) |
L522P |
probably damaging |
Het |
Ndrg1 |
G |
A |
15: 66,812,086 (GRCm39) |
H202Y |
probably benign |
Het |
Nxpe2 |
T |
G |
9: 48,237,634 (GRCm39) |
N207T |
probably damaging |
Het |
Or5ac19 |
A |
T |
16: 59,089,290 (GRCm39) |
S247T |
probably damaging |
Het |
Pdzph1 |
T |
C |
17: 59,186,068 (GRCm39) |
|
probably benign |
Het |
Pinx1 |
A |
G |
14: 64,105,969 (GRCm39) |
D75G |
probably damaging |
Het |
Plxdc1 |
A |
T |
11: 97,823,130 (GRCm39) |
D370E |
probably benign |
Het |
Polb |
A |
T |
8: 23,127,109 (GRCm39) |
L228Q |
probably damaging |
Het |
Rab3gap2 |
T |
A |
1: 184,983,938 (GRCm39) |
I521N |
possibly damaging |
Het |
Rapgef1 |
A |
G |
2: 29,627,955 (GRCm39) |
D1045G |
probably damaging |
Het |
Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
Src |
A |
T |
2: 157,306,698 (GRCm39) |
K234* |
probably null |
Het |
Stk36 |
C |
A |
1: 74,670,834 (GRCm39) |
|
probably benign |
Het |
Ttll6 |
G |
T |
11: 96,038,388 (GRCm39) |
C412F |
probably benign |
Het |
Zfp58 |
A |
G |
13: 67,639,475 (GRCm39) |
F339L |
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 |
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 |
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 |
|
Posted On |
2015-04-16 |