Incidental Mutation 'IGL02072:G6pd2'
ID |
185846 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
G6pd2
|
Ensembl Gene |
ENSMUSG00000089992 |
Gene Name |
glucose-6-phosphate dehydrogenase 2 |
Synonyms |
G6pdx-ps1, Gpd-2, Gpd2 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02072
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
61966186-61967820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61966753 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 176
(D176V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053876]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000053876
AA Change: D176V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000131163 Gene: ENSMUSG00000089992 AA Change: D176V
Domain | Start | End | E-Value | Type |
Pfam:G6PD_N
|
35 |
210 |
4.1e-60 |
PFAM |
Pfam:G6PD_C
|
212 |
504 |
9.9e-119 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930595D18Rik |
T |
A |
12: 111,128,254 (GRCm39) |
|
probably benign |
Het |
Atm |
A |
G |
9: 53,371,096 (GRCm39) |
S2251P |
probably benign |
Het |
C1qtnf6 |
T |
A |
15: 78,411,551 (GRCm39) |
K42* |
probably null |
Het |
Ddx20 |
A |
T |
3: 105,587,943 (GRCm39) |
V379E |
probably damaging |
Het |
Dnah7a |
A |
T |
1: 53,644,986 (GRCm39) |
W1017R |
probably damaging |
Het |
Eif2s1 |
T |
A |
12: 78,926,788 (GRCm39) |
N179K |
probably benign |
Het |
Exosc9 |
A |
T |
3: 36,608,821 (GRCm39) |
N140I |
probably damaging |
Het |
Fancg |
A |
C |
4: 43,007,062 (GRCm39) |
H238Q |
probably benign |
Het |
Fyttd1 |
A |
G |
16: 32,721,031 (GRCm39) |
I110V |
probably damaging |
Het |
Gm5114 |
A |
G |
7: 39,060,826 (GRCm39) |
S8P |
probably benign |
Het |
Hoxa1 |
T |
A |
6: 52,133,878 (GRCm39) |
M283L |
probably damaging |
Het |
Hspbp1 |
A |
T |
7: 4,680,720 (GRCm39) |
L252H |
probably damaging |
Het |
Itgb2l |
A |
T |
16: 96,231,808 (GRCm39) |
D319E |
probably benign |
Het |
Kdm6a |
A |
G |
X: 18,120,528 (GRCm39) |
T737A |
probably benign |
Het |
Kmt2c |
A |
T |
5: 25,610,430 (GRCm39) |
D225E |
possibly damaging |
Het |
Lamb2 |
T |
A |
9: 108,359,107 (GRCm39) |
Y274* |
probably null |
Het |
Lratd2 |
A |
G |
15: 60,695,302 (GRCm39) |
L148P |
probably damaging |
Het |
Mamdc4 |
A |
G |
2: 25,458,351 (GRCm39) |
L353P |
probably damaging |
Het |
Mid2 |
T |
A |
X: 139,637,201 (GRCm39) |
H258Q |
probably damaging |
Het |
Msh3 |
A |
C |
13: 92,436,803 (GRCm39) |
N502K |
probably damaging |
Het |
Nalcn |
T |
C |
14: 123,560,770 (GRCm39) |
H769R |
probably benign |
Het |
Nfx1 |
A |
G |
4: 41,016,119 (GRCm39) |
I894V |
probably benign |
Het |
Notch3 |
G |
A |
17: 32,366,048 (GRCm39) |
Q1018* |
probably null |
Het |
Oas1e |
A |
G |
5: 120,929,846 (GRCm39) |
|
probably null |
Het |
Or4f14d |
A |
T |
2: 111,960,426 (GRCm39) |
H243Q |
probably damaging |
Het |
Or7g34 |
A |
G |
9: 19,478,245 (GRCm39) |
I145T |
probably benign |
Het |
Plekha4 |
T |
A |
7: 45,187,722 (GRCm39) |
F265I |
probably benign |
Het |
Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
Slc9a3 |
T |
C |
13: 74,313,978 (GRCm39) |
I762T |
probably benign |
Het |
Spag1 |
C |
A |
15: 36,190,658 (GRCm39) |
P158Q |
probably damaging |
Het |
Spout1 |
G |
A |
2: 30,067,938 (GRCm39) |
Q26* |
probably null |
Het |
Sulf1 |
T |
C |
1: 12,918,432 (GRCm39) |
Y50H |
probably damaging |
Het |
Sytl5 |
C |
T |
X: 9,829,825 (GRCm39) |
|
probably benign |
Het |
Tcof1 |
T |
C |
18: 60,964,637 (GRCm39) |
E663G |
possibly damaging |
Het |
Tmc3 |
A |
G |
7: 83,265,148 (GRCm39) |
I681V |
probably benign |
Het |
Tnfsf4 |
G |
T |
1: 161,244,860 (GRCm39) |
C183F |
probably damaging |
Het |
Ubqln3 |
A |
T |
7: 103,790,506 (GRCm39) |
L528Q |
possibly damaging |
Het |
Upf3a |
A |
C |
8: 13,848,368 (GRCm39) |
Q388P |
probably damaging |
Het |
Vrk1 |
T |
C |
12: 106,009,144 (GRCm39) |
V70A |
probably benign |
Het |
|
Other mutations in G6pd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01118:G6pd2
|
APN |
5 |
61,967,406 (GRCm39) |
missense |
probably benign |
|
IGL01329:G6pd2
|
APN |
5 |
61,967,281 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02502:G6pd2
|
APN |
5 |
61,966,971 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02800:G6pd2
|
APN |
5 |
61,966,735 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03012:G6pd2
|
APN |
5 |
61,966,816 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03085:G6pd2
|
APN |
5 |
61,967,645 (GRCm39) |
missense |
probably benign |
|
R0505:G6pd2
|
UTSW |
5 |
61,966,910 (GRCm39) |
missense |
probably benign |
|
R0632:G6pd2
|
UTSW |
5 |
61,967,514 (GRCm39) |
missense |
probably benign |
|
R0658:G6pd2
|
UTSW |
5 |
61,967,017 (GRCm39) |
missense |
probably damaging |
1.00 |
R1399:G6pd2
|
UTSW |
5 |
61,967,361 (GRCm39) |
missense |
probably benign |
0.02 |
R1918:G6pd2
|
UTSW |
5 |
61,967,664 (GRCm39) |
missense |
probably benign |
|
R2077:G6pd2
|
UTSW |
5 |
61,967,594 (GRCm39) |
missense |
probably damaging |
0.97 |
R2338:G6pd2
|
UTSW |
5 |
61,967,351 (GRCm39) |
missense |
probably benign |
|
R2566:G6pd2
|
UTSW |
5 |
61,966,330 (GRCm39) |
missense |
probably damaging |
1.00 |
R2918:G6pd2
|
UTSW |
5 |
61,966,869 (GRCm39) |
missense |
probably damaging |
1.00 |
R3963:G6pd2
|
UTSW |
5 |
61,966,228 (GRCm39) |
start codon destroyed |
probably null |
0.50 |
R4399:G6pd2
|
UTSW |
5 |
61,967,516 (GRCm39) |
missense |
probably benign |
0.01 |
R4469:G6pd2
|
UTSW |
5 |
61,966,288 (GRCm39) |
missense |
probably benign |
|
R4560:G6pd2
|
UTSW |
5 |
61,967,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4563:G6pd2
|
UTSW |
5 |
61,967,686 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4914:G6pd2
|
UTSW |
5 |
61,967,672 (GRCm39) |
nonsense |
probably null |
|
R5106:G6pd2
|
UTSW |
5 |
61,967,695 (GRCm39) |
missense |
probably benign |
|
R5242:G6pd2
|
UTSW |
5 |
61,966,785 (GRCm39) |
missense |
probably benign |
0.00 |
R5838:G6pd2
|
UTSW |
5 |
61,966,568 (GRCm39) |
missense |
probably benign |
|
R6131:G6pd2
|
UTSW |
5 |
61,966,593 (GRCm39) |
missense |
probably benign |
0.03 |
R6200:G6pd2
|
UTSW |
5 |
61,967,214 (GRCm39) |
missense |
probably benign |
0.00 |
R7009:G6pd2
|
UTSW |
5 |
61,966,234 (GRCm39) |
missense |
probably benign |
0.00 |
R7337:G6pd2
|
UTSW |
5 |
61,967,562 (GRCm39) |
missense |
probably benign |
0.13 |
R9694:G6pd2
|
UTSW |
5 |
61,966,460 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2014-05-07 |