Incidental Mutation 'R1298:H6pd'
| ID |
158207 |
| 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 |
039364-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R1298 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150063932-150093480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150066971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 472
(I472V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081134
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
|
| AlphaFold |
Q8CFX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030830
AA Change: I480V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: I480V
| 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: I472V
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: I472V
| 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 |
|
| Meta Mutation Damage Score |
0.0594 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 94.1%
|
| Validation Efficiency |
100% (38/38) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox5 |
A |
G |
6: 116,404,225 (GRCm39) |
W145R |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,385,157 (GRCm39) |
V267D |
probably benign |
Het |
| Bbs4 |
A |
T |
9: 59,247,096 (GRCm39) |
W135R |
probably damaging |
Het |
| Cavin4 |
T |
C |
4: 48,672,593 (GRCm39) |
V346A |
probably benign |
Het |
| Cdk18 |
A |
C |
1: 132,050,189 (GRCm39) |
|
probably benign |
Het |
| Cyp2j11 |
C |
T |
4: 96,195,497 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,136,118 (GRCm39) |
I1007K |
probably damaging |
Het |
| Dnmt1 |
T |
C |
9: 20,852,752 (GRCm39) |
E118G |
probably benign |
Het |
| Eef2 |
C |
CN |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
| Eif1ad5 |
T |
A |
12: 87,946,853 (GRCm39) |
D98E |
probably benign |
Het |
| Gm14496 |
T |
C |
2: 181,637,885 (GRCm39) |
F320L |
probably benign |
Het |
| Gsdmc3 |
A |
T |
15: 63,732,130 (GRCm39) |
L299M |
probably damaging |
Het |
| Hao2 |
G |
T |
3: 98,790,985 (GRCm39) |
T63K |
possibly damaging |
Het |
| Jag2 |
C |
T |
12: 112,879,939 (GRCm39) |
|
probably benign |
Het |
| Mapre3 |
A |
G |
5: 31,022,211 (GRCm39) |
Y211C |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,393,334 (GRCm39) |
S2966P |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,169,952 (GRCm39) |
V696E |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,945,723 (GRCm39) |
Y4163H |
possibly damaging |
Het |
| Or11h4b |
A |
T |
14: 50,918,337 (GRCm39) |
Y251* |
probably null |
Het |
| Or12e8 |
G |
A |
2: 87,188,414 (GRCm39) |
A209T |
probably benign |
Het |
| Or6c3 |
G |
T |
10: 129,308,933 (GRCm39) |
C124F |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,156,409 (GRCm39) |
E607G |
probably benign |
Het |
| Pinlyp |
T |
A |
7: 24,244,391 (GRCm39) |
D51V |
probably damaging |
Het |
| Rcbtb2 |
T |
A |
14: 73,399,828 (GRCm39) |
I87N |
probably damaging |
Het |
| Sfswap |
A |
G |
5: 129,618,442 (GRCm39) |
I459V |
probably benign |
Het |
| Slitrk6 |
T |
C |
14: 110,989,297 (GRCm39) |
N137D |
possibly damaging |
Het |
| Smg1 |
A |
T |
7: 117,767,434 (GRCm39) |
|
probably benign |
Het |
| Sobp |
T |
A |
10: 42,898,331 (GRCm39) |
H418L |
probably damaging |
Het |
| Spock1 |
A |
C |
13: 57,660,563 (GRCm39) |
D180E |
probably benign |
Het |
| Upk3a |
G |
A |
15: 84,904,752 (GRCm39) |
V167I |
probably benign |
Het |
| Vmn1r180 |
T |
C |
7: 23,652,572 (GRCm39) |
V245A |
possibly damaging |
Het |
| Zbtb25 |
T |
C |
12: 76,396,775 (GRCm39) |
E149G |
probably benign |
Het |
| Zgrf1 |
T |
C |
3: 127,377,538 (GRCm39) |
C44R |
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 |
|
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 |
|
|
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'- AACTTGCCGAAGTGCCGTACTG -3'
(R):5'- TCAGCCGGAACCTGTTCAAACC -3'
Sequencing Primer
(F):5'- AATCAGTGGGCTCTGTCTATAC -3'
(R):5'- GGAACCTGTTCAAACCCTCAC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation