Incidental Mutation 'R7704:H6pd'
| ID |
594175 |
| 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 |
045765-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R7704 (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 150067360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 350
(D350G)
|
| 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: D350G
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: D350G
| 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: D342G
PolyPhen 2
Score 0.452 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: D342G
| 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: 98.9%
|
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
C |
A |
7: 45,756,068 (GRCm39) |
W1458L |
probably damaging |
Het |
| Actn4 |
A |
T |
7: 28,596,467 (GRCm39) |
I676N |
possibly damaging |
Het |
| Adamts10 |
T |
C |
17: 33,770,126 (GRCm39) |
C1002R |
probably damaging |
Het |
| Agbl2 |
A |
C |
2: 90,619,349 (GRCm39) |
N58T |
probably benign |
Het |
| Akap12 |
A |
T |
10: 4,306,082 (GRCm39) |
D1069V |
probably damaging |
Het |
| Bltp2 |
C |
A |
11: 78,159,570 (GRCm39) |
Q540K |
probably benign |
Het |
| Cfap65 |
T |
A |
1: 74,967,527 (GRCm39) |
T184S |
probably benign |
Het |
| Chd1 |
T |
C |
17: 15,987,737 (GRCm39) |
V1517A |
probably benign |
Het |
| CN725425 |
T |
A |
15: 91,119,993 (GRCm39) |
V38D |
possibly damaging |
Het |
| Copg1 |
T |
A |
6: 87,884,940 (GRCm39) |
L712Q |
probably benign |
Het |
| Ctsf |
T |
G |
19: 4,906,567 (GRCm39) |
F165V |
probably damaging |
Het |
| Ddx21 |
T |
C |
10: 62,429,865 (GRCm39) |
Y293C |
probably damaging |
Het |
| Ddx46 |
C |
T |
13: 55,821,832 (GRCm39) |
P839S |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,496,174 (GRCm39) |
V1164A |
possibly damaging |
Het |
| Dync1h1 |
T |
A |
12: 110,632,200 (GRCm39) |
I4490N |
probably damaging |
Het |
| Ecm1 |
A |
C |
3: 95,643,843 (GRCm39) |
Y236D |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,175,173 (GRCm39) |
T1847A |
probably benign |
Het |
| Galc |
T |
A |
12: 98,175,102 (GRCm39) |
I567L |
probably benign |
Het |
| Gask1a |
C |
T |
9: 121,780,151 (GRCm39) |
|
probably benign |
Het |
| Ifi44 |
A |
G |
3: 151,438,061 (GRCm39) |
Y409H |
probably benign |
Het |
| Kdm5a |
T |
G |
6: 120,404,025 (GRCm39) |
F1210C |
probably damaging |
Het |
| Kdm5b |
C |
T |
1: 134,515,669 (GRCm39) |
R98C |
probably damaging |
Het |
| Lipt1 |
T |
A |
1: 37,915,043 (GRCm39) |
C366* |
probably null |
Het |
| Med13 |
G |
A |
11: 86,236,744 (GRCm39) |
R138* |
probably null |
Het |
| Mterf1a |
A |
G |
5: 3,941,845 (GRCm39) |
C8R |
probably benign |
Het |
| Ncapg2 |
A |
T |
12: 116,382,897 (GRCm39) |
I243F |
probably damaging |
Het |
| Nop58 |
T |
C |
1: 59,744,754 (GRCm39) |
S304P |
probably damaging |
Het |
| Nsd2 |
T |
C |
5: 34,028,811 (GRCm39) |
*167Q |
probably null |
Het |
| Or1e30 |
T |
G |
11: 73,678,616 (GRCm39) |
M284R |
probably damaging |
Het |
| Or2t35 |
T |
A |
14: 14,407,867 (GRCm38) |
I213N |
probably damaging |
Het |
| Or52ab2 |
T |
A |
7: 102,969,978 (GRCm39) |
M120K |
|
Het |
| Pramel29 |
C |
T |
4: 143,935,091 (GRCm39) |
V217I |
possibly damaging |
Het |
| Prdm16 |
C |
T |
4: 154,425,947 (GRCm39) |
G613R |
probably damaging |
Het |
| Prss46 |
T |
C |
9: 110,679,065 (GRCm39) |
S89P |
probably damaging |
Het |
| Scin |
T |
C |
12: 40,174,687 (GRCm39) |
N132S |
possibly damaging |
Het |
| Sec14l2 |
T |
C |
11: 4,058,574 (GRCm39) |
K196R |
probably benign |
Het |
| Sox17 |
C |
A |
1: 4,563,895 (GRCm39) |
|
probably benign |
Het |
| Tango6 |
A |
G |
8: 107,425,621 (GRCm39) |
T394A |
probably benign |
Het |
| Tbc1d22a |
T |
A |
15: 86,250,876 (GRCm39) |
I398N |
probably damaging |
Het |
| Tdpoz8 |
A |
G |
3: 92,981,752 (GRCm39) |
I183V |
probably benign |
Het |
| Tmem8b |
T |
C |
4: 43,689,461 (GRCm39) |
V285A |
probably damaging |
Het |
| Tnfrsf11b |
T |
A |
15: 54,123,497 (GRCm39) |
T35S |
probably benign |
Het |
| Unc13c |
T |
A |
9: 73,606,494 (GRCm39) |
I1289F |
probably benign |
Het |
| Ust |
C |
T |
10: 8,205,987 (GRCm39) |
V99I |
probably benign |
Het |
| Vmn1r76 |
A |
G |
7: 11,664,344 (GRCm39) |
V290A |
probably benign |
Het |
| Vmn2r50 |
T |
C |
7: 9,781,665 (GRCm39) |
N360S |
probably benign |
Het |
| Vmn2r93 |
T |
C |
17: 18,536,910 (GRCm39) |
I531T |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,395 (GRCm39) |
|
probably null |
Het |
| Zfp932 |
A |
G |
5: 110,157,630 (GRCm39) |
N443D |
probably benign |
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 |
|
|
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'- TCACCGTGTCCAATGTAGAAG -3'
(R):5'- ACCTCAGAGTGCTGGTGTTC -3'
Sequencing Primer
(F):5'- CGTGTCCAATGTAGAAGATAATCTGC -3'
(R):5'- GTAGAATTAGCCCCACAAGCTGTTTC -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation