Incidental Mutation 'R1228:Rpia'
ID |
175030 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rpia
|
Ensembl Gene |
ENSMUSG00000053604 |
Gene Name |
ribose 5-phosphate isomerase A |
Synonyms |
|
MMRRC Submission |
039297-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1228 (G1)
|
Quality Score |
90 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
70742704-70769159 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70768880 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 85
(N85S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000064158
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066134]
|
AlphaFold |
P47968 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000066134
AA Change: N85S
PolyPhen 2
Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000064158 Gene: ENSMUSG00000053604 AA Change: N85S
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
38 |
N/A |
INTRINSIC |
low complexity region
|
56 |
66 |
N/A |
INTRINSIC |
Pfam:Rib_5-P_isom_A
|
120 |
294 |
7.3e-65 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129244
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.7%
- 20x: 90.7%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bag6 |
T |
A |
17: 35,364,309 (GRCm39) |
S863R |
probably damaging |
Het |
Ccdc181 |
C |
T |
1: 164,113,960 (GRCm39) |
R455* |
probably null |
Het |
Clvs2 |
T |
C |
10: 33,498,600 (GRCm39) |
N110S |
probably benign |
Het |
Enpp1 |
T |
A |
10: 24,521,310 (GRCm39) |
I806F |
probably benign |
Het |
Entrep1 |
A |
G |
19: 23,956,829 (GRCm39) |
S355P |
probably benign |
Het |
Fli1 |
T |
C |
9: 32,335,139 (GRCm39) |
Y431C |
probably damaging |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Klhl25 |
C |
T |
7: 75,515,868 (GRCm39) |
A258V |
probably benign |
Het |
Krt13 |
T |
C |
11: 100,012,303 (GRCm39) |
S7G |
probably benign |
Het |
Pakap |
T |
A |
4: 57,856,909 (GRCm39) |
I787N |
probably damaging |
Het |
Pappa |
T |
C |
4: 65,258,926 (GRCm39) |
F1558S |
probably damaging |
Het |
Phc3 |
A |
T |
3: 30,976,404 (GRCm39) |
N721K |
possibly damaging |
Het |
Plxna4 |
A |
T |
6: 32,201,087 (GRCm39) |
|
probably null |
Het |
Rabac1 |
T |
C |
7: 24,671,523 (GRCm39) |
|
probably null |
Het |
Rims1 |
T |
C |
1: 22,511,837 (GRCm39) |
D572G |
probably null |
Het |
Sh3gl3 |
A |
G |
7: 81,824,723 (GRCm39) |
M1V |
probably null |
Het |
Skint6 |
T |
C |
4: 112,711,649 (GRCm39) |
N956S |
probably benign |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Sp110 |
G |
A |
1: 85,519,481 (GRCm39) |
P116S |
probably benign |
Het |
Spata7 |
T |
C |
12: 98,600,528 (GRCm39) |
L47P |
probably damaging |
Het |
Tcea2 |
G |
T |
2: 181,326,238 (GRCm39) |
V81F |
probably benign |
Het |
Ttbk1 |
A |
T |
17: 46,787,638 (GRCm39) |
|
probably null |
Het |
Vmn2r77 |
G |
A |
7: 86,450,242 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Rpia |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00916:Rpia
|
APN |
6 |
70,752,086 (GRCm39) |
splice site |
probably benign |
|
R4629:Rpia
|
UTSW |
6 |
70,743,578 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5249:Rpia
|
UTSW |
6 |
70,760,563 (GRCm39) |
nonsense |
probably null |
|
R6302:Rpia
|
UTSW |
6 |
70,750,485 (GRCm39) |
missense |
probably damaging |
0.96 |
R6772:Rpia
|
UTSW |
6 |
70,762,532 (GRCm39) |
missense |
probably benign |
0.08 |
R6932:Rpia
|
UTSW |
6 |
70,750,424 (GRCm39) |
missense |
probably benign |
0.00 |
R7718:Rpia
|
UTSW |
6 |
70,743,602 (GRCm39) |
missense |
probably damaging |
1.00 |
R8282:Rpia
|
UTSW |
6 |
70,748,002 (GRCm39) |
missense |
possibly damaging |
0.78 |
R8517:Rpia
|
UTSW |
6 |
70,743,630 (GRCm39) |
missense |
possibly damaging |
0.74 |
R9507:Rpia
|
UTSW |
6 |
70,754,377 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- GAAGAGTTGACACCCACCCATTCG -3'
(R):5'- TCGCCGTAGGACTACATTTCCCAG -3'
Sequencing Primer
(F):5'- ACCCATTCGGGGTCTAGAAG -3'
(R):5'- TTTCCCAGCAACACGCATTTAG -3'
|
Posted On |
2014-04-24 |