Incidental Mutation 'R4399:G6pd2'
| ID |
325627 |
| 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 |
041686-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4399 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
61966186-61967820 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 61967516 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 430
(N430K)
|
| 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: N430K
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000131163
Gene: ENSMUSG00000089992
AA Change: N430K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:G6PD_N
|
35 |
210 |
4.1e-60 |
PFAM |
|
Pfam:G6PD_C
|
212 |
504 |
9.9e-119 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (44/46) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,827,211 (GRCm39) |
T1466A |
possibly damaging |
Het |
| Abcc6 |
T |
C |
7: 45,652,031 (GRCm39) |
N612S |
probably benign |
Het |
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| Cep152 |
G |
A |
2: 125,429,900 (GRCm39) |
A674V |
possibly damaging |
Het |
| Chd6 |
T |
C |
2: 160,807,238 (GRCm39) |
H1992R |
probably benign |
Het |
| Cnga1 |
T |
C |
5: 72,761,724 (GRCm39) |
K597E |
probably damaging |
Het |
| Col6a5 |
T |
A |
9: 105,766,164 (GRCm39) |
M1919L |
possibly damaging |
Het |
| Cramp1 |
C |
T |
17: 25,198,559 (GRCm39) |
V788I |
probably damaging |
Het |
| Dnah7a |
T |
C |
1: 53,557,886 (GRCm39) |
Y2176C |
probably damaging |
Het |
| Foxred2 |
A |
C |
15: 77,837,558 (GRCm39) |
V226G |
possibly damaging |
Het |
| Foxred2 |
T |
C |
15: 77,839,880 (GRCm39) |
I137V |
probably benign |
Het |
| Gtf2h3 |
T |
C |
5: 124,740,126 (GRCm39) |
|
probably benign |
Het |
| Ibsp |
T |
A |
5: 104,457,148 (GRCm39) |
S86T |
probably damaging |
Het |
| Igkv6-25 |
T |
A |
6: 70,192,694 (GRCm39) |
S34T |
possibly damaging |
Het |
| Mrc2 |
T |
A |
11: 105,227,484 (GRCm39) |
Y572* |
probably null |
Het |
| Mup18 |
C |
T |
4: 61,590,866 (GRCm39) |
G97D |
probably damaging |
Het |
| Or1j18 |
A |
T |
2: 36,625,242 (GRCm39) |
N303I |
probably benign |
Het |
| Or1p1 |
A |
G |
11: 74,179,682 (GRCm39) |
D70G |
probably damaging |
Het |
| Or2ag2 |
G |
T |
7: 106,485,660 (GRCm39) |
D121E |
probably damaging |
Het |
| Or4k40 |
T |
G |
2: 111,251,144 (GRCm39) |
I51L |
probably benign |
Het |
| Prkcz |
A |
T |
4: 155,353,534 (GRCm39) |
I454N |
possibly damaging |
Het |
| Prrg3 |
A |
T |
X: 71,010,915 (GRCm39) |
S141C |
probably damaging |
Het |
| Ralgapa1 |
T |
A |
12: 55,842,563 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,777,189 (GRCm39) |
S323T |
probably benign |
Het |
| Sbpl |
A |
G |
17: 24,173,860 (GRCm39) |
L8P |
unknown |
Het |
| Setd1b |
C |
T |
5: 123,299,861 (GRCm39) |
|
probably benign |
Het |
| Sh2d3c |
G |
A |
2: 32,636,172 (GRCm39) |
G332D |
probably damaging |
Het |
| Slc2a7 |
A |
G |
4: 150,243,007 (GRCm39) |
E276G |
probably damaging |
Het |
| Slc35b3 |
A |
G |
13: 39,121,791 (GRCm39) |
F73L |
possibly damaging |
Het |
| Sstr3 |
T |
G |
15: 78,424,324 (GRCm39) |
D141A |
probably damaging |
Het |
| St8sia5 |
T |
C |
18: 77,340,714 (GRCm39) |
C191R |
probably damaging |
Het |
| Sult1c2 |
T |
C |
17: 54,269,538 (GRCm39) |
N230S |
probably benign |
Het |
| Thrap3 |
A |
G |
4: 126,060,872 (GRCm39) |
|
probably benign |
Het |
| Tma16 |
C |
T |
8: 66,936,823 (GRCm39) |
|
probably null |
Het |
| Tmem151a |
A |
G |
19: 5,133,099 (GRCm39) |
S36P |
probably damaging |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,476 (GRCm39) |
T247A |
possibly damaging |
Het |
| Vmn2r50 |
A |
G |
7: 9,781,834 (GRCm39) |
S304P |
possibly damaging |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,708 (GRCm39) |
N619D |
probably damaging |
Het |
| Xab2 |
C |
A |
8: 3,664,244 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- TCATACTGCGCTGTGGCAAAG -3'
(R):5'- CGGCTGCCATATACATAGGG -3'
Sequencing Primer
(F):5'- GTGAGACTGCAATTCCGAGATATACC -3'
(R):5'- CTGCCATATACATAGGGGAAGGGC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation