Incidental Mutation 'R8226:H6pd'
| ID |
636980 |
| 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 |
067643-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R8226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150063932-150093480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150080446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 133
(V133A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
[ENSMUST00000153394]
|
| AlphaFold |
Q8CFX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030830
AA Change: V133A
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: V133A
| 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 benign
Transcript: ENSMUST00000084117
AA Change: V125A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: V125A
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153394
AA Change: V125A
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000115647
Gene: ENSMUSG00000028980
AA Change: V125A
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
Pfam:G6PD_N
|
26 |
172 |
5e-21 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.2%
- 20x: 97.7%
|
| Validation Efficiency |
100% (54/54) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
G |
10: 29,094,195 (GRCm39) |
N27S |
probably damaging |
Het |
| Abcb1b |
T |
A |
5: 8,871,390 (GRCm39) |
Y315N |
probably damaging |
Het |
| Acy1 |
A |
G |
9: 106,314,857 (GRCm39) |
I22T |
probably damaging |
Het |
| Akap11 |
G |
A |
14: 78,748,649 (GRCm39) |
T1246M |
|
Het |
| Akr1b1 |
G |
C |
6: 34,288,867 (GRCm39) |
T114R |
probably damaging |
Het |
| Apob |
G |
A |
12: 8,059,056 (GRCm39) |
V2513I |
probably benign |
Het |
| Arhgap21 |
C |
T |
2: 20,876,556 (GRCm39) |
D820N |
probably damaging |
Het |
| Arl2 |
A |
T |
19: 6,187,506 (GRCm39) |
|
probably null |
Het |
| Bmp5 |
C |
T |
9: 75,683,606 (GRCm39) |
P78S |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,987,213 (GRCm39) |
C1374R |
probably damaging |
Het |
| Dennd5b |
T |
C |
6: 148,915,746 (GRCm39) |
|
probably null |
Het |
| Dhx36 |
A |
G |
3: 62,377,991 (GRCm39) |
Y1000H |
probably benign |
Het |
| Dnah14 |
A |
G |
1: 181,623,110 (GRCm39) |
E3996G |
possibly damaging |
Het |
| Efcab6 |
T |
C |
15: 83,788,456 (GRCm39) |
Y946C |
probably benign |
Het |
| Egfem1 |
A |
G |
3: 29,711,404 (GRCm39) |
K328E |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,021,959 (GRCm39) |
V1478A |
probably benign |
Het |
| Fchsd2 |
C |
T |
7: 100,931,679 (GRCm39) |
P745L |
probably damaging |
Het |
| Grb10 |
G |
T |
11: 11,901,533 (GRCm39) |
L214M |
probably damaging |
Het |
| Irak4 |
T |
A |
15: 94,456,244 (GRCm39) |
L277Q |
probably damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,480 (GRCm39) |
M777K |
possibly damaging |
Het |
| Lrch4 |
A |
G |
5: 137,637,997 (GRCm39) |
H93R |
|
Het |
| Lrrc38 |
G |
A |
4: 143,077,303 (GRCm39) |
G189R |
probably damaging |
Het |
| Mga |
A |
G |
2: 119,790,866 (GRCm39) |
I2251V |
probably benign |
Het |
| Mtx3 |
A |
G |
13: 92,984,215 (GRCm39) |
E164G |
possibly damaging |
Het |
| Muc21 |
T |
C |
17: 35,930,599 (GRCm39) |
|
probably benign |
Het |
| Nbeal1 |
A |
T |
1: 60,316,336 (GRCm39) |
K1846N |
probably damaging |
Het |
| Nedd1 |
T |
A |
10: 92,527,797 (GRCm39) |
M466L |
probably benign |
Het |
| Nr4a3 |
A |
T |
4: 48,056,588 (GRCm39) |
K380M |
probably damaging |
Het |
| Nup107 |
T |
C |
10: 117,593,836 (GRCm39) |
K786E |
probably benign |
Het |
| Or51f23b |
T |
C |
7: 102,402,950 (GRCm39) |
Y62C |
probably benign |
Het |
| Or5ak25 |
T |
A |
2: 85,268,981 (GRCm39) |
I174F |
probably damaging |
Het |
| Or5m12 |
T |
C |
2: 85,734,547 (GRCm39) |
I284V |
probably benign |
Het |
| Or5v1 |
A |
T |
17: 37,809,560 (GRCm39) |
Q6L |
probably benign |
Het |
| Pira13 |
A |
C |
7: 3,828,109 (GRCm39) |
L66R |
|
Het |
| Pkhd1l1 |
A |
G |
15: 44,437,803 (GRCm39) |
N3533D |
possibly damaging |
Het |
| Plpp1 |
A |
T |
13: 113,003,465 (GRCm39) |
T230S |
probably benign |
Het |
| Plxnc1 |
A |
C |
10: 94,669,230 (GRCm39) |
D1063E |
possibly damaging |
Het |
| Pramel20 |
T |
G |
4: 143,298,530 (GRCm39) |
Y158D |
probably benign |
Het |
| Prokr2 |
C |
A |
2: 132,215,961 (GRCm39) |
A167S |
probably damaging |
Het |
| Qser1 |
C |
T |
2: 104,619,070 (GRCm39) |
A491T |
probably benign |
Het |
| Rc3h2 |
T |
A |
2: 37,267,001 (GRCm39) |
Y1040F |
possibly damaging |
Het |
| Rgl2 |
C |
T |
17: 34,151,501 (GRCm39) |
L182F |
possibly damaging |
Het |
| Rnf130 |
T |
C |
11: 49,962,097 (GRCm39) |
V181A |
probably benign |
Het |
| Scd4 |
A |
G |
19: 44,322,572 (GRCm39) |
D55G |
probably benign |
Het |
| Scn7a |
T |
G |
2: 66,531,204 (GRCm39) |
I558L |
possibly damaging |
Het |
| Serpinb7 |
G |
A |
1: 107,375,980 (GRCm39) |
|
probably null |
Het |
| Shtn1 |
T |
C |
19: 58,992,328 (GRCm39) |
I417V |
possibly damaging |
Het |
| Svs3b |
T |
A |
2: 164,098,140 (GRCm39) |
E60D |
possibly damaging |
Het |
| Tex14 |
T |
C |
11: 87,375,585 (GRCm39) |
I116T |
probably damaging |
Het |
| Trak1 |
C |
T |
9: 121,280,793 (GRCm39) |
T394I |
probably benign |
Het |
| Trhde |
C |
T |
10: 114,403,133 (GRCm39) |
V497M |
probably damaging |
Het |
| Trpc2 |
A |
G |
7: 101,737,482 (GRCm39) |
M425V |
possibly damaging |
Het |
| Trpm2 |
C |
T |
10: 77,783,807 (GRCm39) |
R222Q |
probably damaging |
Het |
| Tuba1b |
C |
T |
15: 98,829,591 (GRCm39) |
G410S |
probably benign |
Het |
| Usp28 |
T |
G |
9: 48,926,697 (GRCm39) |
|
probably null |
Het |
| Vps13d |
T |
C |
4: 144,875,860 (GRCm39) |
Y1555C |
|
Het |
| Wdr17 |
T |
A |
8: 55,146,155 (GRCm39) |
N106Y |
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 |
|
R6921:H6pd
|
UTSW |
4 |
150,066,508 (GRCm39) |
missense |
probably damaging |
0.99 |
|
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 |
|
|
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'- AAGTTCTGAAGCCAGCTGC -3'
(R):5'- CCACAGTTTCAGCTTCCACG -3'
Sequencing Primer
(F):5'- AGCTGCTGGGCTGAGAG -3'
(R):5'- TCAGCTTCCACGGTGCTG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation