Incidental Mutation 'R4531:Pgd'
| ID |
333106 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgd
|
| Ensembl Gene |
ENSMUSG00000028961 |
| Gene Name |
phosphogluconate dehydrogenase |
| Synonyms |
0610042A05Rik |
| MMRRC Submission |
041771-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R4531 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
149234448-149251162 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 149241234 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 225
(K225R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081141
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084124]
|
| AlphaFold |
Q9DCD0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084124
AA Change: K225R
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000081141
Gene: ENSMUSG00000028961
AA Change: K225R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_binding_2
|
3 |
176 |
3.2e-52 |
PFAM |
|
6PGD
|
180 |
470 |
7.75e-219 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124409
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137982
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143944
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156120
|
| Meta Mutation Damage Score |
0.2456 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
97% (35/36) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] 6-phosphogluconate dehydrogenase is the second dehydrogenase in the pentose phosphate shunt. Deficiency of this enzyme is generally asymptomatic, and the inheritance of this disorder is autosomal dominant. Hemolysis results from combined deficiency of 6-phosphogluconate dehydrogenase and 6-phosphogluconolactonase suggesting a synergism of the two enzymopathies. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad12 |
T |
C |
5: 121,736,962 (GRCm39) |
T526A |
probably benign |
Het |
| Acad12 |
T |
C |
5: 121,736,964 (GRCm39) |
Q525R |
probably benign |
Het |
| Cnot3 |
T |
C |
7: 3,661,073 (GRCm39) |
V558A |
probably benign |
Het |
| Cntnap4 |
G |
A |
8: 113,537,240 (GRCm39) |
V704M |
possibly damaging |
Het |
| Col22a1 |
T |
C |
15: 71,878,998 (GRCm39) |
D53G |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,137,072 (GRCm39) |
|
probably benign |
Het |
| Cyp2d10 |
T |
A |
15: 82,289,462 (GRCm39) |
T217S |
probably benign |
Het |
| Dcaf6 |
T |
C |
1: 165,239,036 (GRCm39) |
T229A |
probably damaging |
Het |
| E4f1 |
A |
T |
17: 24,664,961 (GRCm39) |
S408T |
possibly damaging |
Het |
| Eif1ad19 |
G |
A |
12: 87,740,314 (GRCm39) |
Q82* |
probably null |
Het |
| Gpr149 |
A |
G |
3: 62,510,099 (GRCm39) |
F339L |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,062,938 (GRCm39) |
C413S |
probably benign |
Het |
| Kmo |
T |
C |
1: 175,487,273 (GRCm39) |
|
probably null |
Het |
| Lin54 |
G |
A |
5: 100,594,419 (GRCm39) |
T582I |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,020,215 (GRCm39) |
I1157V |
probably benign |
Het |
| Obscn |
A |
G |
11: 58,898,700 (GRCm39) |
|
probably benign |
Het |
| Or14c40 |
T |
A |
7: 86,313,479 (GRCm39) |
L203H |
probably benign |
Het |
| Or8k23 |
A |
T |
2: 86,186,318 (GRCm39) |
M136K |
probably damaging |
Het |
| Pclo |
A |
G |
5: 14,825,422 (GRCm39) |
D4657G |
unknown |
Het |
| Poli |
A |
T |
18: 70,650,548 (GRCm39) |
H297Q |
probably benign |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc24a2 |
T |
C |
4: 86,909,715 (GRCm39) |
I668V |
possibly damaging |
Het |
| Tdrd6 |
A |
G |
17: 43,939,645 (GRCm39) |
S468P |
probably damaging |
Het |
| Trav6-4 |
A |
G |
14: 53,691,790 (GRCm39) |
T3A |
probably benign |
Het |
| Trpc2 |
G |
T |
7: 101,745,205 (GRCm39) |
R807L |
probably damaging |
Het |
| Ttc3 |
T |
A |
16: 94,267,736 (GRCm39) |
|
probably benign |
Het |
| Tubgcp3 |
G |
T |
8: 12,713,932 (GRCm39) |
L62I |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Vwce |
A |
C |
19: 10,641,710 (GRCm39) |
E812A |
probably benign |
Het |
| Zmynd12 |
T |
C |
4: 119,280,194 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pgd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02173:Pgd
|
APN |
4 |
149,241,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02480:Pgd
|
APN |
4 |
149,241,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03028:Pgd
|
APN |
4 |
149,246,084 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03370:Pgd
|
APN |
4 |
149,249,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0398:Pgd
|
UTSW |
4 |
149,238,339 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0601:Pgd
|
UTSW |
4 |
149,241,267 (GRCm39) |
splice site |
probably benign |
|
|
R0980:Pgd
|
UTSW |
4 |
149,238,768 (GRCm39) |
splice site |
probably null |
|
|
R1475:Pgd
|
UTSW |
4 |
149,241,232 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3826:Pgd
|
UTSW |
4 |
149,250,461 (GRCm39) |
splice site |
probably benign |
|
|
R4832:Pgd
|
UTSW |
4 |
149,241,048 (GRCm39) |
intron |
probably benign |
|
|
R6352:Pgd
|
UTSW |
4 |
149,245,209 (GRCm39) |
splice site |
probably null |
|
|
R6353:Pgd
|
UTSW |
4 |
149,245,209 (GRCm39) |
splice site |
probably null |
|
|
R6485:Pgd
|
UTSW |
4 |
149,240,876 (GRCm39) |
splice site |
probably null |
|
|
R6514:Pgd
|
UTSW |
4 |
149,245,209 (GRCm39) |
splice site |
probably null |
|
|
R6519:Pgd
|
UTSW |
4 |
149,235,343 (GRCm39) |
nonsense |
probably null |
|
|
R6543:Pgd
|
UTSW |
4 |
149,245,209 (GRCm39) |
splice site |
probably null |
|
|
R7153:Pgd
|
UTSW |
4 |
149,246,135 (GRCm39) |
missense |
probably benign |
|
|
R9517:Pgd
|
UTSW |
4 |
149,249,668 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9649:Pgd
|
UTSW |
4 |
149,235,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Pgd
|
UTSW |
4 |
149,251,136 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGGGAAAGCTGCCATATTACC -3'
(R):5'- CAGAACTTCCTGACCTGGGAAAC -3'
Sequencing Primer
(F):5'- CTGCCATATTACCAATGAGGGTGAC -3'
(R):5'- CTGGGAAACTCAACTCACTGGG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation