Incidental Mutation 'R6921:H6pd'
| ID |
539631 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H6pd
|
| Ensembl Gene |
ENSMUSG00000028980 |
| Gene Name |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
| Synonyms |
Gpd1, G6pd1, Gpd-1 |
| MMRRC Submission |
045006-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R6921 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150063932-150093480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150066508 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 626
(D626G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
|
| AlphaFold |
Q8CFX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030830
AA Change: D634G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: D634G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:G6PD_N
|
34 |
218 |
1.6e-41 |
PFAM |
|
Pfam:G6PD_C
|
220 |
523 |
3.2e-58 |
PFAM |
|
Pfam:Glucosamine_iso
|
564 |
788 |
8.2e-66 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084117
AA Change: D626G
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: D626G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:G6PD_N
|
26 |
210 |
8.6e-39 |
PFAM |
|
Pfam:G6PD_C
|
212 |
387 |
3.6e-42 |
PFAM |
|
Pfam:Glucosamine_iso
|
561 |
758 |
9.9e-62 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.4%
|
| Validation Efficiency |
96% (46/48) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] There are 2 forms of glucose-6-phosphate dehydrogenase. G form is X-linked and H form, encoded by this gene, is autosomally linked. This H form shows activity with other hexose-6-phosphates, especially galactose-6-phosphate, whereas the G form is specific for glucose-6-phosphate. Both forms are present in most tissues, but H form is not found in red cells. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele show enlarged adrenal glands, reduced plasma corticosterone levels and altered 11 beta-hydroxysteroid dehydrogenase type 1 enzyme activity. Treatment with 11-dehydrocorticosterone fails to inhibit glucose-stimulatedinsulin secretion in pancreatic islets. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,166,019 (GRCm39) |
H118Q |
probably damaging |
Het |
| Adgrl3 |
T |
G |
5: 81,796,560 (GRCm39) |
V623G |
probably damaging |
Het |
| B9d2 |
A |
G |
7: 25,385,442 (GRCm39) |
D84G |
probably damaging |
Het |
| Clec1a |
A |
T |
6: 129,405,827 (GRCm39) |
L268H |
probably damaging |
Het |
| Copa |
A |
T |
1: 171,939,491 (GRCm39) |
N576I |
possibly damaging |
Het |
| Cyp11b1 |
T |
C |
15: 74,712,798 (GRCm39) |
T88A |
probably benign |
Het |
| Dis3l2 |
T |
C |
1: 86,785,063 (GRCm39) |
I318T |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,180,654 (GRCm39) |
|
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,932,310 (GRCm39) |
A3639S |
probably damaging |
Het |
| Dnajc8 |
T |
A |
4: 132,272,031 (GRCm39) |
I89N |
probably damaging |
Het |
| Dync2h1 |
T |
A |
9: 7,102,549 (GRCm39) |
H377L |
probably benign |
Het |
| Erfe |
T |
A |
1: 91,298,054 (GRCm39) |
I212N |
probably benign |
Het |
| Fam117b |
A |
G |
1: 59,992,094 (GRCm39) |
T248A |
probably damaging |
Het |
| Fbxo10 |
A |
T |
4: 45,044,849 (GRCm39) |
N595K |
probably damaging |
Het |
| Fzd10 |
T |
A |
5: 128,678,646 (GRCm39) |
M122K |
probably damaging |
Het |
| Gpr15 |
C |
T |
16: 58,538,144 (GRCm39) |
R315H |
probably benign |
Het |
| Gvin2 |
G |
A |
7: 105,551,187 (GRCm39) |
Q622* |
probably null |
Het |
| Hexd |
A |
G |
11: 121,113,107 (GRCm39) |
D514G |
probably damaging |
Het |
| Hoxd4 |
T |
C |
2: 74,558,836 (GRCm39) |
S220P |
possibly damaging |
Het |
| Invs |
A |
G |
4: 48,396,260 (GRCm39) |
H311R |
possibly damaging |
Het |
| Ip6k1 |
A |
G |
9: 107,901,634 (GRCm39) |
T70A |
probably damaging |
Het |
| Lipt2 |
T |
C |
7: 99,809,578 (GRCm39) |
C222R |
probably damaging |
Het |
| Lrrc3 |
T |
A |
10: 77,736,866 (GRCm39) |
D190V |
probably damaging |
Het |
| Marchf10 |
T |
C |
11: 105,280,603 (GRCm39) |
T561A |
probably benign |
Het |
| Mcm10 |
G |
A |
2: 5,005,746 (GRCm39) |
T463I |
probably benign |
Het |
| Mideas |
A |
G |
12: 84,203,233 (GRCm39) |
S890P |
probably damaging |
Het |
| Mmel1 |
T |
C |
4: 154,966,134 (GRCm39) |
L52P |
probably damaging |
Het |
| Nipbl |
T |
C |
15: 8,332,969 (GRCm39) |
N2218S |
probably benign |
Het |
| Nr4a3 |
C |
T |
4: 48,051,486 (GRCm39) |
P80L |
probably benign |
Het |
| Nrip1 |
C |
T |
16: 76,089,476 (GRCm39) |
G694R |
possibly damaging |
Het |
| Oit3 |
A |
T |
10: 59,271,767 (GRCm39) |
C197S |
probably damaging |
Het |
| Or5al1 |
C |
T |
2: 85,990,196 (GRCm39) |
V173M |
probably benign |
Het |
| Or8b1b |
A |
G |
9: 38,375,543 (GRCm39) |
I69V |
probably benign |
Het |
| Otol1 |
A |
G |
3: 69,935,433 (GRCm39) |
E475G |
possibly damaging |
Het |
| Pes1 |
T |
C |
11: 3,923,330 (GRCm39) |
F168L |
probably damaging |
Het |
| Plch1 |
C |
T |
3: 63,615,155 (GRCm39) |
R780H |
possibly damaging |
Het |
| Pxdn |
C |
G |
12: 30,065,504 (GRCm39) |
P1275A |
probably damaging |
Het |
| Sgcz |
T |
C |
8: 37,993,443 (GRCm39) |
E218G |
probably damaging |
Het |
| Slc27a5 |
A |
T |
7: 12,725,135 (GRCm39) |
N437K |
probably damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,384,612 (GRCm39) |
S155P |
probably damaging |
Het |
| Tgfbrap1 |
T |
C |
1: 43,091,056 (GRCm39) |
M690V |
probably benign |
Het |
| Tmem151a |
A |
T |
19: 5,133,119 (GRCm39) |
L29Q |
probably damaging |
Het |
| Tmprss2 |
A |
G |
16: 97,369,637 (GRCm39) |
I379T |
probably damaging |
Het |
| Vmn1r168 |
T |
A |
7: 23,240,323 (GRCm39) |
V60E |
probably damaging |
Het |
| Vmn2r73 |
A |
C |
7: 85,507,446 (GRCm39) |
V622G |
probably benign |
Het |
| Wdr72 |
A |
G |
9: 74,117,928 (GRCm39) |
H880R |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,678,024 (GRCm39) |
T3025A |
possibly damaging |
Het |
|
| Other mutations in H6pd |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00916:H6pd
|
APN |
4 |
150,078,925 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL01450:H6pd
|
APN |
4 |
150,068,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01913:H6pd
|
APN |
4 |
150,078,920 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01914:H6pd
|
APN |
4 |
150,078,920 (GRCm39) |
unclassified |
probably benign |
|
|
dryer
|
UTSW |
4 |
150,067,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
herr
|
UTSW |
4 |
150,068,359 (GRCm39) |
critical splice donor site |
probably null |
|
|
G1patch:H6pd
|
UTSW |
4 |
150,080,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0402:H6pd
|
UTSW |
4 |
150,080,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0486:H6pd
|
UTSW |
4 |
150,067,393 (GRCm39) |
splice site |
probably benign |
|
|
R0548:H6pd
|
UTSW |
4 |
150,066,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0690:H6pd
|
UTSW |
4 |
150,067,030 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1165:H6pd
|
UTSW |
4 |
150,080,413 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1298:H6pd
|
UTSW |
4 |
150,066,971 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1331:H6pd
|
UTSW |
4 |
150,066,872 (GRCm39) |
missense |
probably benign |
0.28 |
|
R1581:H6pd
|
UTSW |
4 |
150,066,971 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1781:H6pd
|
UTSW |
4 |
150,080,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1791:H6pd
|
UTSW |
4 |
150,066,130 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1840:H6pd
|
UTSW |
4 |
150,066,507 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R2290:H6pd
|
UTSW |
4 |
150,066,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3889:H6pd
|
UTSW |
4 |
150,080,230 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R4432:H6pd
|
UTSW |
4 |
150,080,215 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4576:H6pd
|
UTSW |
4 |
150,078,933 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4629:H6pd
|
UTSW |
4 |
150,080,803 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4856:H6pd
|
UTSW |
4 |
150,067,235 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4886:H6pd
|
UTSW |
4 |
150,067,235 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R4951:H6pd
|
UTSW |
4 |
150,066,044 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5124:H6pd
|
UTSW |
4 |
150,066,512 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5337:H6pd
|
UTSW |
4 |
150,066,241 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5408:H6pd
|
UTSW |
4 |
150,067,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5474:H6pd
|
UTSW |
4 |
150,080,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:H6pd
|
UTSW |
4 |
150,080,414 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6476:H6pd
|
UTSW |
4 |
150,067,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6725:H6pd
|
UTSW |
4 |
150,080,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6733:H6pd
|
UTSW |
4 |
150,069,578 (GRCm39) |
splice site |
probably null |
|
|
R6785:H6pd
|
UTSW |
4 |
150,067,247 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R6853:H6pd
|
UTSW |
4 |
150,066,919 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7258:H6pd
|
UTSW |
4 |
150,080,819 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7269:H6pd
|
UTSW |
4 |
150,067,369 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7326:H6pd
|
UTSW |
4 |
150,080,807 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7348:H6pd
|
UTSW |
4 |
150,068,359 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7488:H6pd
|
UTSW |
4 |
150,067,093 (GRCm39) |
missense |
probably benign |
|
|
R7512:H6pd
|
UTSW |
4 |
150,080,405 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7684:H6pd
|
UTSW |
4 |
150,080,519 (GRCm39) |
missense |
probably benign |
|
|
R7704:H6pd
|
UTSW |
4 |
150,067,360 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7954:H6pd
|
UTSW |
4 |
150,067,283 (GRCm39) |
missense |
probably benign |
|
|
R8226:H6pd
|
UTSW |
4 |
150,080,446 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8420:H6pd
|
UTSW |
4 |
150,066,133 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8757:H6pd
|
UTSW |
4 |
150,066,758 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8759:H6pd
|
UTSW |
4 |
150,066,758 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9275:H6pd
|
UTSW |
4 |
150,080,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9278:H6pd
|
UTSW |
4 |
150,080,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9400:H6pd
|
UTSW |
4 |
150,080,248 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9491:H6pd
|
UTSW |
4 |
150,080,366 (GRCm39) |
missense |
probably benign |
0.18 |
|
R9520:H6pd
|
UTSW |
4 |
150,080,375 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
X0020:H6pd
|
UTSW |
4 |
150,067,255 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGACAGCTACCTTCTTGGCTC -3'
(R):5'- CTGGCCAGTGACATTGAAGC -3'
Sequencing Primer
(F):5'- TGATCACCATCCAGGCCTGTG -3'
(R):5'- AGTGACATTGAAGCCGCCG -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation