Incidental Mutation 'R7954:H6pd'
| ID |
649710 |
| 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 |
045998-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R7954 (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 150067283 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 376
(I376V)
|
| 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: I376V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: I376V
| 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: I368V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: I368V
| 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: 99.6%
- 20x: 98.8%
|
| 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 |
C |
T |
11: 119,903,169 (GRCm39) |
C409Y |
possibly damaging |
Het |
| Acsm2 |
C |
T |
7: 119,179,952 (GRCm39) |
T390I |
probably damaging |
Het |
| Adam20 |
T |
C |
8: 41,249,581 (GRCm39) |
Y564H |
probably damaging |
Het |
| Adcy6 |
A |
G |
15: 98,494,773 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
C |
6: 85,598,144 (GRCm39) |
V990A |
probably damaging |
Het |
| Anapc2 |
T |
A |
2: 25,164,712 (GRCm39) |
V318E |
probably damaging |
Het |
| Ano6 |
G |
T |
15: 95,863,702 (GRCm39) |
A741S |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,447,321 (GRCm39) |
S1406G |
probably damaging |
Het |
| Cemip2 |
T |
A |
19: 21,770,264 (GRCm39) |
I84N |
probably damaging |
Het |
| Cfi |
G |
A |
3: 129,662,234 (GRCm39) |
|
probably null |
Het |
| Clcn1 |
A |
T |
6: 42,263,625 (GRCm39) |
|
probably benign |
Het |
| Crygs |
C |
T |
16: 22,624,082 (GRCm39) |
R175H |
probably damaging |
Het |
| Dnmbp |
A |
T |
19: 43,890,742 (GRCm39) |
W342R |
probably benign |
Het |
| Dok5 |
T |
A |
2: 170,674,993 (GRCm39) |
|
probably null |
Het |
| Eno3 |
T |
C |
11: 70,552,006 (GRCm39) |
I284T |
probably benign |
Het |
| Ep400 |
T |
C |
5: 110,816,599 (GRCm39) |
T2767A |
possibly damaging |
Het |
| Epb41l4b |
A |
G |
4: 57,088,034 (GRCm39) |
V162A |
probably damaging |
Het |
| Fat3 |
A |
G |
9: 15,909,708 (GRCm39) |
I2098T |
probably damaging |
Het |
| Fbxl13 |
T |
C |
5: 21,748,767 (GRCm39) |
N384S |
probably benign |
Het |
| Fbxo9 |
A |
G |
9: 78,008,826 (GRCm39) |
L78P |
probably benign |
Het |
| Glis1 |
G |
A |
4: 107,476,854 (GRCm39) |
R525H |
possibly damaging |
Het |
| Gpr15 |
T |
G |
16: 58,539,047 (GRCm39) |
D14A |
probably benign |
Het |
| Gpr156 |
T |
C |
16: 37,807,920 (GRCm39) |
I189T |
probably damaging |
Het |
| Hs6st3 |
T |
C |
14: 120,106,522 (GRCm39) |
V310A |
probably damaging |
Het |
| Htr1b |
A |
G |
9: 81,513,998 (GRCm39) |
L203P |
probably damaging |
Het |
| Kif26b |
A |
T |
1: 178,696,944 (GRCm39) |
I531F |
probably damaging |
Het |
| Krtcap3 |
T |
C |
5: 31,410,015 (GRCm39) |
L166P |
probably damaging |
Het |
| Lmod1 |
A |
C |
1: 135,252,794 (GRCm39) |
D16A |
probably damaging |
Het |
| Lrp2 |
T |
G |
2: 69,333,867 (GRCm39) |
N1458T |
possibly damaging |
Het |
| Mocs1 |
G |
A |
17: 49,761,799 (GRCm39) |
G631E |
possibly damaging |
Het |
| Nop14 |
G |
A |
5: 34,807,729 (GRCm39) |
P411L |
probably benign |
Het |
| Nr2f1 |
A |
C |
13: 78,338,113 (GRCm39) |
D334E |
probably damaging |
Het |
| Or5al7 |
A |
G |
2: 85,993,212 (GRCm39) |
L27P |
probably damaging |
Het |
| Or5p51 |
T |
C |
7: 107,444,119 (GRCm39) |
N274D |
probably benign |
Het |
| Paqr9 |
G |
A |
9: 95,442,681 (GRCm39) |
V224M |
probably damaging |
Het |
| Pkd2l1 |
T |
C |
19: 44,142,651 (GRCm39) |
T464A |
probably benign |
Het |
| Prss58 |
T |
C |
6: 40,872,543 (GRCm39) |
R188G |
possibly damaging |
Het |
| Rapgef2 |
G |
A |
3: 78,977,454 (GRCm39) |
R1150* |
probably null |
Het |
| Rgs22 |
A |
C |
15: 36,082,148 (GRCm39) |
F653V |
possibly damaging |
Het |
| Spata2 |
T |
C |
2: 167,325,857 (GRCm39) |
T321A |
probably benign |
Het |
| St3gal1 |
A |
T |
15: 66,984,422 (GRCm39) |
F118I |
probably damaging |
Het |
| Styxl2 |
C |
T |
1: 165,926,849 (GRCm39) |
S921N |
probably benign |
Het |
| Tasor |
T |
C |
14: 27,169,481 (GRCm39) |
|
probably null |
Het |
| Tex35 |
C |
T |
1: 156,927,742 (GRCm39) |
D143N |
probably damaging |
Het |
| Tll1 |
G |
A |
8: 64,571,568 (GRCm39) |
T171I |
probably damaging |
Het |
| Umodl1 |
A |
T |
17: 31,205,361 (GRCm39) |
Q652L |
probably benign |
Het |
| Usp54 |
A |
G |
14: 20,611,981 (GRCm39) |
L945P |
probably benign |
Het |
| Vars1 |
A |
G |
17: 35,234,960 (GRCm39) |
H1263R |
probably benign |
Het |
| Vmn1r202 |
A |
T |
13: 22,685,871 (GRCm39) |
M182K |
probably benign |
Het |
| Vmn1r78 |
T |
A |
7: 11,887,227 (GRCm39) |
C279* |
probably null |
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 |
|
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'- TAATCAGACAGAGGACGGCC -3'
(R):5'- AGAATTAGCCCCACAAGCTG -3'
Sequencing Primer
(F):5'- AGGCTGGTCCTGCACCTC -3'
(R):5'- TTTCCAGCCCTGCCTGAGAAG -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation