Incidental Mutation 'IGL03370:Pgd'
ID |
420273 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Pgd
|
Ensembl Gene |
ENSMUSG00000028961 |
Gene Name |
phosphogluconate dehydrogenase |
Synonyms |
0610042A05Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.959)
|
Stock # |
IGL03370
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
149234448-149251162 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 149249685 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 29
(V29D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081141
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084124]
|
AlphaFold |
Q9DCD0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000084124
AA Change: V29D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081141 Gene: ENSMUSG00000028961 AA Change: V29D
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: ENSMUST00000137982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143944
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156120
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl7b |
A |
G |
4: 56,741,173 (GRCm39) |
Y62H |
probably damaging |
Het |
Cfap52 |
A |
G |
11: 67,829,881 (GRCm39) |
I296T |
probably damaging |
Het |
Col14a1 |
A |
G |
15: 55,351,937 (GRCm39) |
|
probably null |
Het |
Daam2 |
G |
T |
17: 49,793,529 (GRCm39) |
D329E |
probably benign |
Het |
Defb26 |
A |
G |
2: 152,349,902 (GRCm39) |
V126A |
probably benign |
Het |
Fasn |
A |
T |
11: 120,703,621 (GRCm39) |
I1535N |
possibly damaging |
Het |
Fbxw15 |
A |
T |
9: 109,384,219 (GRCm39) |
Y431N |
probably benign |
Het |
Fbxw26 |
T |
G |
9: 109,575,087 (GRCm39) |
I13L |
probably damaging |
Het |
Fggy |
A |
T |
4: 95,710,301 (GRCm39) |
H300L |
probably damaging |
Het |
Fndc3c1 |
G |
A |
X: 105,464,307 (GRCm39) |
T1277I |
probably benign |
Het |
Gigyf1 |
G |
T |
5: 137,523,952 (GRCm39) |
V1041L |
possibly damaging |
Het |
Kif26b |
G |
A |
1: 178,742,946 (GRCm39) |
R567H |
probably benign |
Het |
Kpna6 |
G |
A |
4: 129,549,314 (GRCm39) |
T156M |
probably damaging |
Het |
Lrrc37a |
C |
T |
11: 103,388,499 (GRCm39) |
E2309K |
unknown |
Het |
Lyn |
T |
C |
4: 3,780,931 (GRCm39) |
Y357H |
possibly damaging |
Het |
Mki67 |
A |
G |
7: 135,297,219 (GRCm39) |
V2605A |
probably benign |
Het |
Mtmr3 |
T |
C |
11: 4,437,385 (GRCm39) |
D1023G |
probably damaging |
Het |
Muc5b |
G |
T |
7: 141,418,514 (GRCm39) |
R3820L |
probably benign |
Het |
Mus81 |
A |
G |
19: 5,534,991 (GRCm39) |
|
probably benign |
Het |
Nup188 |
A |
G |
2: 30,230,653 (GRCm39) |
Y1397C |
possibly damaging |
Het |
Plch2 |
T |
C |
4: 155,071,371 (GRCm39) |
S244G |
probably benign |
Het |
Rapgef5 |
C |
A |
12: 117,694,294 (GRCm39) |
T372K |
probably damaging |
Het |
Rb1 |
A |
G |
14: 73,520,306 (GRCm39) |
|
probably null |
Het |
Ryr3 |
A |
T |
2: 112,586,944 (GRCm39) |
V2680E |
possibly damaging |
Het |
Sgsm3 |
A |
C |
15: 80,895,855 (GRCm39) |
|
probably null |
Het |
Slc38a1 |
C |
T |
15: 96,477,228 (GRCm39) |
V362I |
possibly damaging |
Het |
Sun1 |
T |
A |
5: 139,216,886 (GRCm39) |
D308E |
probably damaging |
Het |
Tns1 |
C |
T |
1: 74,025,053 (GRCm39) |
V387M |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,582,083 (GRCm39) |
G22937C |
probably damaging |
Het |
Ubr1 |
C |
A |
2: 120,725,641 (GRCm39) |
A1258S |
probably benign |
Het |
Vmn2r74 |
A |
G |
7: 85,607,265 (GRCm39) |
F153L |
probably benign |
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 |
|
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 |
|
R4531:Pgd
|
UTSW |
4 |
149,241,234 (GRCm39) |
missense |
probably benign |
0.01 |
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 |
|
|
Posted On |
2016-08-02 |