Incidental Mutation 'R1399:G6pd2'
| ID |
160288 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
G6pd2
|
| Ensembl Gene |
ENSMUSG00000089992 |
| Gene Name |
glucose-6-phosphate dehydrogenase 2 |
| Synonyms |
G6pdx-ps1, Gpd-2, Gpd2 |
| MMRRC Submission |
039461-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1399 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
61966186-61967820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 61967361 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 379
(D379N)
|
| 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: D379N
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: D379N
| 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 |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl5 |
T |
C |
10: 80,177,042 (GRCm39) |
S469G |
probably damaging |
Het |
| Ccdc168 |
G |
A |
1: 44,100,471 (GRCm39) |
T209I |
possibly damaging |
Het |
| Cep170 |
C |
T |
1: 176,585,969 (GRCm39) |
E608K |
probably damaging |
Het |
| Csnk1g3 |
T |
C |
18: 54,028,982 (GRCm39) |
V45A |
probably damaging |
Het |
| Eng |
C |
A |
2: 32,563,334 (GRCm39) |
Q297K |
probably damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Mrc1 |
C |
T |
2: 14,284,736 (GRCm39) |
T575M |
probably damaging |
Het |
| Noct |
C |
T |
3: 51,157,897 (GRCm39) |
|
probably null |
Het |
| Phka1 |
A |
G |
X: 101,660,964 (GRCm39) |
S226P |
probably damaging |
Het |
| Pias4 |
T |
C |
10: 80,991,509 (GRCm39) |
Y346C |
probably damaging |
Het |
| Ptger4 |
C |
T |
15: 5,264,412 (GRCm39) |
E415K |
possibly damaging |
Het |
| Pwwp4b |
A |
G |
X: 72,182,235 (GRCm39) |
L287P |
probably damaging |
Het |
| Rb1cc1 |
G |
A |
1: 6,320,042 (GRCm39) |
V1154I |
probably benign |
Het |
| Spopfm1 |
A |
G |
3: 94,173,102 (GRCm39) |
M37V |
probably benign |
Het |
| Vmn2r121 |
A |
C |
X: 123,039,545 (GRCm39) |
V541G |
possibly damaging |
Het |
| Zfp92 |
A |
T |
X: 72,466,401 (GRCm39) |
T465S |
probably benign |
Het |
| Zfp92 |
A |
G |
X: 72,465,736 (GRCm39) |
H243R |
probably damaging |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAAAAGCCTGCTACCACAGATTC -3'
(R):5'- GACATCCAGGATGAGGCGTTCATAG -3'
Sequencing Primer
(F):5'- ACTGACAATGTGATCCTTGGC -3'
(R):5'- ATGAGGCGTTCATAGGCACC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation