Incidental Mutation 'R8420:H6pd'
| ID |
653136 |
| 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 |
067773-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R8420 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150063932-150093480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150066133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 759
(E759G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
|
| AlphaFold |
Q8CFX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030830
AA Change: E759G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: E759G
| 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: E751G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: E751G
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,937,746 (GRCm39) |
S11P |
unknown |
Het |
| Adrb2 |
T |
C |
18: 62,312,004 (GRCm39) |
T274A |
probably damaging |
Het |
| Aph1b |
A |
G |
9: 66,701,503 (GRCm39) |
S45P |
probably damaging |
Het |
| Atp9b |
A |
T |
18: 80,887,806 (GRCm39) |
D321E |
|
Het |
| C1qbp |
A |
G |
11: 70,869,543 (GRCm39) |
V180A |
possibly damaging |
Het |
| C4b |
G |
T |
17: 34,953,513 (GRCm39) |
A990D |
probably damaging |
Het |
| Ccdc80 |
T |
A |
16: 44,915,612 (GRCm39) |
S123T |
possibly damaging |
Het |
| Cdh18 |
A |
C |
15: 23,474,138 (GRCm39) |
E669D |
possibly damaging |
Het |
| Ceacam3 |
T |
A |
7: 16,895,608 (GRCm39) |
V526D |
|
Het |
| Cenpf |
C |
T |
1: 189,404,782 (GRCm39) |
C349Y |
probably damaging |
Het |
| Dmrt2 |
T |
C |
19: 25,655,379 (GRCm39) |
V326A |
probably damaging |
Het |
| Dock9 |
T |
C |
14: 121,783,454 (GRCm39) |
Q2023R |
probably damaging |
Het |
| Exd2 |
A |
G |
12: 80,522,771 (GRCm39) |
R77G |
probably benign |
Het |
| Exph5 |
A |
T |
9: 53,287,148 (GRCm39) |
K1410* |
probably null |
Het |
| Eya2 |
A |
G |
2: 165,608,988 (GRCm39) |
T443A |
probably damaging |
Het |
| Fam135a |
G |
A |
1: 24,067,569 (GRCm39) |
T1100M |
probably benign |
Het |
| Foxp2 |
G |
T |
6: 15,403,866 (GRCm39) |
R381L |
unknown |
Het |
| Grm7 |
T |
G |
6: 111,057,315 (GRCm39) |
V305G |
probably benign |
Het |
| Gzma |
G |
A |
13: 113,237,464 (GRCm39) |
R8W |
probably benign |
Het |
| Ift27 |
A |
G |
15: 78,048,391 (GRCm39) |
V154A |
probably benign |
Het |
| Kif1a |
A |
T |
1: 92,950,141 (GRCm39) |
S1429T |
probably benign |
Het |
| Lrrn1 |
T |
A |
6: 107,546,294 (GRCm39) |
D697E |
probably benign |
Het |
| Mcrs1 |
A |
T |
15: 99,141,575 (GRCm39) |
I387N |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,448,807 (GRCm39) |
T7675A |
probably damaging |
Het |
| Naf1 |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC |
8: 67,313,200 (GRCm39) |
|
probably benign |
Het |
| Nid1 |
C |
A |
13: 13,612,416 (GRCm39) |
L44I |
possibly damaging |
Het |
| Or2f2 |
A |
T |
6: 42,767,644 (GRCm39) |
T224S |
possibly damaging |
Het |
| Or4m1 |
T |
C |
14: 50,558,233 (GRCm39) |
T20A |
probably benign |
Het |
| Or5h27 |
A |
G |
16: 59,006,117 (GRCm39) |
I243T |
unknown |
Het |
| Or8k1 |
T |
A |
2: 86,047,457 (GRCm39) |
E199V |
probably damaging |
Het |
| Pde11a |
C |
T |
2: 75,889,354 (GRCm39) |
D707N |
probably damaging |
Het |
| Pigf |
A |
T |
17: 87,327,910 (GRCm39) |
L119* |
probably null |
Het |
| Pkd1l1 |
A |
T |
11: 8,820,277 (GRCm39) |
C1679* |
probably null |
Het |
| Prnp |
A |
G |
2: 131,778,669 (GRCm39) |
N107S |
probably benign |
Het |
| Ptgfr |
C |
T |
3: 151,541,053 (GRCm39) |
V152M |
possibly damaging |
Het |
| Rap2b |
A |
G |
3: 61,271,805 (GRCm39) |
|
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,657,300 (GRCm39) |
T485A |
probably damaging |
Het |
| Sec23b |
A |
G |
2: 144,401,234 (GRCm39) |
T32A |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,437,679 (GRCm39) |
|
probably null |
Het |
| Slc13a5 |
A |
G |
11: 72,148,210 (GRCm39) |
L275P |
probably damaging |
Het |
| Slc20a1 |
C |
T |
2: 129,041,784 (GRCm39) |
A49V |
probably damaging |
Het |
| Slc35g2 |
A |
G |
9: 100,435,224 (GRCm39) |
I149T |
probably benign |
Het |
| Syk |
T |
A |
13: 52,778,763 (GRCm39) |
I283K |
probably benign |
Het |
| Taf7l2 |
T |
C |
10: 115,948,440 (GRCm39) |
Y362C |
probably benign |
Het |
| Tnfsf13b |
G |
A |
8: 10,056,795 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
A |
G |
2: 120,701,476 (GRCm39) |
V1592A |
probably benign |
Het |
| Vopp1 |
T |
C |
6: 57,739,379 (GRCm39) |
*123W |
probably null |
Het |
| Xpo4 |
T |
A |
14: 57,841,913 (GRCm39) |
Q467H |
probably damaging |
Het |
| Zdhhc22 |
A |
C |
12: 87,035,143 (GRCm39) |
V103G |
possibly damaging |
Het |
| Zfp868 |
A |
G |
8: 70,064,160 (GRCm39) |
S392P |
probably 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 |
|
|
R8226:H6pd
|
UTSW |
4 |
150,080,446 (GRCm39) |
missense |
probably benign |
0.02 |
|
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'- TCGGCACAGAGTTTTGTCCTC -3'
(R):5'- ATGCCAGTGAGATCTCAGCC -3'
Sequencing Primer
(F):5'- TGACTCTGGTACCAGGCTC -3'
(R):5'- AGTGAGATCTCAGCCCTGGTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation