Incidental Mutation 'R0548:H6pd'
ID |
44959 |
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 |
038740-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R0548 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
150063932-150093480 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 150066073 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 771
(V771E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081134
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
|
AlphaFold |
Q8CFX1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030830
AA Change: V779E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030830 Gene: ENSMUSG00000028980 AA Change: V779E
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 damaging
Transcript: ENSMUST00000084117
AA Change: V771E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081134 Gene: ENSMUSG00000028980 AA Change: V771E
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
Validation Efficiency |
97% (62/64) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam39 |
T |
G |
8: 41,279,504 (GRCm39) |
C632G |
probably damaging |
Het |
Adamtsl3 |
T |
C |
7: 82,178,191 (GRCm39) |
|
probably null |
Het |
Agfg1 |
A |
G |
1: 82,864,152 (GRCm39) |
T447A |
probably damaging |
Het |
Ankrd37 |
C |
T |
8: 46,451,433 (GRCm39) |
|
probably null |
Het |
Apob |
A |
T |
12: 8,056,282 (GRCm39) |
D1555V |
probably damaging |
Het |
Asxl3 |
T |
A |
18: 22,654,849 (GRCm39) |
|
probably benign |
Het |
Brca2 |
C |
A |
5: 150,468,400 (GRCm39) |
D2242E |
probably damaging |
Het |
Car5b |
G |
A |
X: 162,762,297 (GRCm39) |
R282C |
probably damaging |
Het |
Cdk5rap2 |
A |
T |
4: 70,267,379 (GRCm39) |
|
probably null |
Het |
Cox10 |
A |
T |
11: 63,867,178 (GRCm39) |
Y273N |
probably damaging |
Het |
Dcbld2 |
A |
T |
16: 58,275,508 (GRCm39) |
D408V |
probably damaging |
Het |
Enam |
A |
T |
5: 88,650,964 (GRCm39) |
E824D |
probably damaging |
Het |
Epm2aip1 |
T |
C |
9: 111,102,409 (GRCm39) |
Y461H |
probably damaging |
Het |
Fam72a |
T |
A |
1: 131,461,599 (GRCm39) |
S95T |
probably damaging |
Het |
Fiz1 |
A |
T |
7: 5,012,167 (GRCm39) |
V117D |
possibly damaging |
Het |
Gm10355 |
C |
T |
3: 101,214,376 (GRCm39) |
|
noncoding transcript |
Het |
Gm11595 |
A |
T |
11: 99,662,967 (GRCm39) |
C238S |
unknown |
Het |
Gm7589 |
T |
G |
9: 59,053,439 (GRCm39) |
|
noncoding transcript |
Het |
Htt |
T |
C |
5: 35,028,090 (GRCm39) |
L1782P |
probably damaging |
Het |
Il33 |
T |
C |
19: 29,932,047 (GRCm39) |
S147P |
probably benign |
Het |
Lct |
T |
C |
1: 128,212,932 (GRCm39) |
Y1907C |
probably damaging |
Het |
Lrp2 |
G |
A |
2: 69,367,982 (GRCm39) |
|
probably benign |
Het |
Maco1 |
T |
C |
4: 134,533,971 (GRCm39) |
D550G |
probably damaging |
Het |
Map1b |
T |
C |
13: 99,568,191 (GRCm39) |
K1510R |
unknown |
Het |
Marco |
T |
C |
1: 120,419,767 (GRCm39) |
T187A |
probably benign |
Het |
Mki67 |
A |
T |
7: 135,298,637 (GRCm39) |
N2132K |
possibly damaging |
Het |
Mki67 |
T |
A |
7: 135,296,985 (GRCm39) |
K2683M |
probably damaging |
Het |
Mmp15 |
T |
C |
8: 96,098,979 (GRCm39) |
V602A |
probably damaging |
Het |
Mphosph10 |
T |
A |
7: 64,028,548 (GRCm39) |
M536L |
probably benign |
Het |
Mroh2a |
C |
A |
1: 88,170,142 (GRCm39) |
A685D |
possibly damaging |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
N4bp2 |
G |
T |
5: 65,965,496 (GRCm39) |
V1182L |
probably benign |
Het |
Nlrc5 |
C |
A |
8: 95,248,411 (GRCm39) |
F1715L |
probably null |
Het |
Nsd2 |
T |
A |
5: 34,050,882 (GRCm39) |
V1253E |
probably damaging |
Het |
Numa1 |
T |
C |
7: 101,644,731 (GRCm39) |
S236P |
possibly damaging |
Het |
Or2a52 |
T |
A |
6: 43,144,121 (GRCm39) |
I43K |
probably benign |
Het |
Or4c120 |
C |
A |
2: 89,000,992 (GRCm39) |
C188F |
probably damaging |
Het |
Or8g18 |
A |
T |
9: 39,149,667 (GRCm39) |
S18T |
probably benign |
Het |
Padi4 |
GCTGCGTACCTCCAC |
GC |
4: 140,475,760 (GRCm39) |
|
probably benign |
Het |
Pi4ka |
A |
T |
16: 17,125,582 (GRCm39) |
N4K |
possibly damaging |
Het |
Plxna4 |
A |
T |
6: 32,134,950 (GRCm39) |
I1751N |
probably damaging |
Het |
Postn |
C |
A |
3: 54,274,997 (GRCm39) |
S122* |
probably null |
Het |
Ppp4r4 |
A |
T |
12: 103,579,074 (GRCm39) |
R762* |
probably null |
Het |
Rrm1 |
G |
T |
7: 102,116,274 (GRCm39) |
|
probably null |
Het |
Rrp15 |
A |
G |
1: 186,468,431 (GRCm39) |
V195A |
probably benign |
Het |
Rtl1 |
T |
A |
12: 109,558,089 (GRCm39) |
D1250V |
probably damaging |
Het |
Rxrg |
T |
C |
1: 167,458,788 (GRCm39) |
|
probably benign |
Het |
Scn10a |
T |
C |
9: 119,494,994 (GRCm39) |
K416E |
probably benign |
Het |
Serping1 |
T |
C |
2: 84,600,425 (GRCm39) |
|
probably benign |
Het |
Slc12a6 |
T |
C |
2: 112,166,269 (GRCm39) |
|
probably null |
Het |
Smo |
A |
T |
6: 29,759,585 (GRCm39) |
Q639L |
possibly damaging |
Het |
Synrg |
T |
C |
11: 83,873,014 (GRCm39) |
|
probably benign |
Het |
Tars2 |
T |
C |
3: 95,649,971 (GRCm39) |
D470G |
probably damaging |
Het |
Tln1 |
T |
C |
4: 43,542,709 (GRCm39) |
N1399S |
possibly damaging |
Het |
Tmem131 |
A |
G |
1: 36,877,119 (GRCm39) |
V240A |
probably damaging |
Het |
Tmem232 |
G |
A |
17: 65,689,615 (GRCm39) |
T500I |
probably benign |
Het |
Toporsl |
G |
A |
4: 52,612,140 (GRCm39) |
V678M |
possibly damaging |
Het |
Vmn1r7 |
A |
T |
6: 57,002,066 (GRCm39) |
F65I |
probably damaging |
Het |
Wdfy4 |
C |
T |
14: 32,764,578 (GRCm39) |
M2257I |
probably benign |
Het |
Wdr20rt |
T |
A |
12: 65,274,089 (GRCm39) |
D344E |
probably benign |
Het |
Xirp2 |
C |
T |
2: 67,344,758 (GRCm39) |
A2333V |
probably benign |
Het |
Zfyve16 |
T |
C |
13: 92,631,452 (GRCm39) |
K1381R |
probably benign |
Het |
Zscan18 |
G |
T |
7: 12,508,103 (GRCm39) |
P466T |
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 |
|
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 |
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'- CATGTGCAGGCACCGAAATTCC -3'
(R):5'- TCAGATCCAGACTCCAACTTCCAGG -3'
Sequencing Primer
(F):5'- AATTCCCGAGAACCAGTGG -3'
(R):5'- AGCTCAGACCTATGCCAGTG -3'
|
Posted On |
2013-06-11 |