Incidental Mutation 'IGL01118:G6pd2'
ID |
51137 |
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 # |
IGL01118
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
61966186-61967820 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 61967406 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 394
(M394L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053876]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000053876
AA Change: M394L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000131163 Gene: ENSMUSG00000089992 AA Change: M394L
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
T |
3: 124,195,058 (GRCm39) |
R539Q |
probably benign |
Het |
Abcb1a |
G |
A |
5: 8,724,687 (GRCm39) |
R40H |
probably damaging |
Het |
Acan |
T |
A |
7: 78,748,401 (GRCm39) |
S1057R |
possibly damaging |
Het |
Ahnak |
A |
T |
19: 8,989,942 (GRCm39) |
D3742V |
probably damaging |
Het |
Amdhd1 |
A |
T |
10: 93,367,430 (GRCm39) |
D241E |
probably benign |
Het |
Cntn5 |
T |
C |
9: 9,831,565 (GRCm39) |
Y605C |
possibly damaging |
Het |
Dnmt3l |
T |
C |
10: 77,893,120 (GRCm39) |
F299S |
probably damaging |
Het |
Eif1ad19 |
T |
A |
12: 87,740,212 (GRCm39) |
N116Y |
probably damaging |
Het |
Ess2 |
A |
T |
16: 17,720,796 (GRCm39) |
I350N |
probably damaging |
Het |
Gm9839 |
A |
T |
1: 32,558,924 (GRCm39) |
M386K |
probably benign |
Het |
Gtf2h3 |
T |
C |
5: 124,733,731 (GRCm39) |
V268A |
probably damaging |
Het |
Hgs |
T |
C |
11: 120,366,040 (GRCm39) |
V195A |
probably damaging |
Het |
Igkv3-2 |
A |
T |
6: 70,675,978 (GRCm39) |
S96C |
probably damaging |
Het |
Mgl2 |
A |
G |
11: 70,025,015 (GRCm39) |
E12G |
probably benign |
Het |
Mup11 |
A |
T |
4: 60,615,779 (GRCm39) |
F153I |
probably damaging |
Het |
Nf1 |
T |
A |
11: 79,437,812 (GRCm39) |
C2057S |
probably damaging |
Het |
Nkrf |
A |
G |
X: 36,152,410 (GRCm39) |
F624S |
probably damaging |
Het |
Noto |
T |
C |
6: 85,401,192 (GRCm39) |
S74P |
probably benign |
Het |
Or8k40 |
A |
G |
2: 86,584,314 (GRCm39) |
I256T |
probably benign |
Het |
Pax8 |
T |
C |
2: 24,332,944 (GRCm39) |
|
probably benign |
Het |
Psg28 |
A |
T |
7: 18,162,017 (GRCm39) |
V162D |
probably damaging |
Het |
Rai1 |
T |
C |
11: 60,078,264 (GRCm39) |
F776S |
probably damaging |
Het |
Taar8a |
A |
T |
10: 23,952,759 (GRCm39) |
H121L |
probably damaging |
Het |
Tas2r113 |
A |
G |
6: 132,870,278 (GRCm39) |
N102S |
probably benign |
Het |
Trpm1 |
A |
G |
7: 63,885,572 (GRCm39) |
T863A |
probably benign |
Het |
Ttf2 |
A |
G |
3: 100,874,413 (GRCm39) |
|
probably benign |
Het |
Wdr62 |
T |
C |
7: 29,942,206 (GRCm39) |
H611R |
probably damaging |
Het |
Wdr90 |
A |
T |
17: 26,073,661 (GRCm39) |
L762Q |
probably damaging |
Het |
Yeats2 |
T |
G |
16: 20,005,054 (GRCm39) |
S364A |
probably damaging |
Het |
Zdhhc15 |
G |
T |
X: 103,641,712 (GRCm39) |
Q82K |
probably benign |
Het |
|
Other mutations in G6pd2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01329:G6pd2
|
APN |
5 |
61,967,281 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02072:G6pd2
|
APN |
5 |
61,966,753 (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 |
2013-06-21 |