Incidental Mutation 'IGL03012:G6pd2'
| ID |
407801 |
| 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 # |
IGL03012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
61966186-61967820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 61966816 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 197
(Y197C)
|
| 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: Y197C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: Y197C
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
A |
C |
9: 118,986,014 (GRCm39) |
S17A |
probably benign |
Het |
| Acp1 |
T |
G |
12: 30,945,948 (GRCm39) |
N135T |
probably benign |
Het |
| Adamts2 |
A |
G |
11: 50,667,096 (GRCm39) |
|
probably benign |
Het |
| Arfgef2 |
C |
T |
2: 166,710,808 (GRCm39) |
|
probably benign |
Het |
| Atp10b |
T |
A |
11: 43,085,482 (GRCm39) |
I287N |
probably damaging |
Het |
| Camta1 |
T |
A |
4: 151,537,756 (GRCm39) |
K141N |
probably damaging |
Het |
| Carmil1 |
T |
C |
13: 24,220,355 (GRCm39) |
D719G |
probably benign |
Het |
| Cntnap5c |
T |
A |
17: 58,666,229 (GRCm39) |
H1086Q |
probably benign |
Het |
| Dsg3 |
A |
G |
18: 20,670,300 (GRCm39) |
|
probably null |
Het |
| Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
| Il13ra1 |
G |
T |
X: 35,394,247 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,479,733 (GRCm39) |
P111S |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,722,263 (GRCm39) |
|
probably benign |
Het |
| Lztr1 |
T |
C |
16: 17,339,348 (GRCm39) |
S57P |
possibly damaging |
Het |
| Mtss1 |
T |
G |
15: 58,930,249 (GRCm39) |
D32A |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,773,151 (GRCm39) |
D1250N |
probably benign |
Het |
| Ncln |
A |
G |
10: 81,325,799 (GRCm39) |
F349L |
probably benign |
Het |
| Pgap1 |
A |
G |
1: 54,572,572 (GRCm39) |
|
probably benign |
Het |
| Rarres2 |
T |
C |
6: 48,547,239 (GRCm39) |
D107G |
probably benign |
Het |
| Ric3 |
T |
C |
7: 108,637,925 (GRCm39) |
D276G |
probably benign |
Het |
| Trim54 |
A |
G |
5: 31,294,489 (GRCm39) |
D339G |
probably benign |
Het |
| Trip11 |
G |
A |
12: 101,850,195 (GRCm39) |
H1005Y |
probably damaging |
Het |
| Tulp4 |
G |
T |
17: 6,263,654 (GRCm39) |
|
probably benign |
Het |
| Unc93a |
C |
T |
17: 13,328,495 (GRCm39) |
E453K |
probably benign |
Het |
| Vmn1r181 |
A |
T |
7: 23,684,027 (GRCm39) |
D164V |
probably damaging |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,291 (GRCm39) |
S301T |
probably benign |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,692 (GRCm39) |
N151D |
probably benign |
Het |
| Wnk2 |
T |
C |
13: 49,197,865 (GRCm39) |
K2008E |
probably damaging |
Het |
| Wrap73 |
A |
G |
4: 154,229,691 (GRCm39) |
|
probably benign |
Het |
| Zfp408 |
G |
A |
2: 91,478,153 (GRCm39) |
A41V |
probably benign |
Het |
| Zfp472 |
A |
G |
17: 33,196,545 (GRCm39) |
S207G |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation