Incidental Mutation 'R4576:H6pd'
ID |
342452 |
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 |
041799-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R4576 (G1)
|
Quality Score |
207 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
150063932-150093480 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 150078933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 243
(D243E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081134
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
[ENSMUST00000153394]
|
AlphaFold |
Q8CFX1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030830
AA Change: D251E
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000030830 Gene: ENSMUSG00000028980 AA Change: D251E
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: D243E
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000081134 Gene: ENSMUSG00000028980 AA Change: D243E
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153394
|
SMART Domains |
Protein: ENSMUSP00000115647 Gene: ENSMUSG00000028980
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:G6PD_N
|
26 |
172 |
5e-21 |
PFAM |
|
Meta Mutation Damage Score |
0.6414 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
98% (84/86) |
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: 78 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adhfe1 |
A |
T |
1: 9,623,979 (GRCm39) |
D160V |
probably damaging |
Het |
Ano9 |
T |
C |
7: 140,684,051 (GRCm39) |
Q538R |
probably damaging |
Het |
Atp4a |
A |
G |
7: 30,417,147 (GRCm39) |
D510G |
probably benign |
Het |
Atp8a1 |
T |
C |
5: 67,973,158 (GRCm39) |
|
probably benign |
Het |
Auts2 |
C |
T |
5: 132,287,773 (GRCm39) |
G70E |
probably benign |
Het |
C7 |
A |
G |
15: 5,032,238 (GRCm39) |
S658P |
probably damaging |
Het |
Cdh9 |
T |
C |
15: 16,832,325 (GRCm39) |
V404A |
possibly damaging |
Het |
Cfap54 |
C |
T |
10: 92,879,090 (GRCm39) |
|
probably null |
Het |
Chml |
G |
T |
1: 175,514,506 (GRCm39) |
Q129K |
probably damaging |
Het |
Chst2 |
T |
C |
9: 95,287,224 (GRCm39) |
H374R |
probably damaging |
Het |
Cimip2a |
T |
C |
2: 25,110,300 (GRCm39) |
S71P |
probably benign |
Het |
Cirbp |
A |
G |
10: 80,006,075 (GRCm39) |
K84E |
probably damaging |
Het |
Cln6 |
G |
T |
9: 62,746,231 (GRCm39) |
Q23H |
probably benign |
Het |
Cntn5 |
A |
G |
9: 9,673,297 (GRCm39) |
M801T |
probably benign |
Het |
Dapk1 |
A |
T |
13: 60,869,636 (GRCm39) |
M293L |
probably benign |
Het |
Ddx11 |
A |
G |
17: 66,457,721 (GRCm39) |
K869E |
probably damaging |
Het |
Ddx17 |
A |
T |
15: 79,425,347 (GRCm39) |
M108K |
probably benign |
Het |
Dnaaf5 |
C |
A |
5: 139,171,394 (GRCm39) |
A557D |
probably damaging |
Het |
Ecpas |
A |
T |
4: 58,834,708 (GRCm39) |
|
probably benign |
Het |
Edil3 |
T |
C |
13: 89,467,850 (GRCm39) |
Y452H |
probably damaging |
Het |
Elfn1 |
T |
C |
5: 139,957,808 (GRCm39) |
S271P |
probably benign |
Het |
Enah |
G |
A |
1: 181,747,128 (GRCm39) |
S298L |
possibly damaging |
Het |
Exoc7 |
T |
C |
11: 116,180,009 (GRCm39) |
*685W |
probably null |
Het |
Fgfbp1 |
C |
T |
5: 44,136,806 (GRCm39) |
R162H |
probably benign |
Het |
Foxj3 |
A |
G |
4: 119,478,860 (GRCm39) |
S439G |
unknown |
Het |
Fzd9 |
A |
G |
5: 135,279,166 (GRCm39) |
S240P |
probably damaging |
Het |
Gin1 |
A |
G |
1: 97,720,064 (GRCm39) |
D442G |
probably damaging |
Het |
Gm10804 |
C |
T |
2: 93,299,014 (GRCm39) |
|
noncoding transcript |
Het |
Grhl3 |
G |
T |
4: 135,288,562 (GRCm39) |
T41K |
probably damaging |
Het |
Heatr6 |
T |
A |
11: 83,655,826 (GRCm39) |
S306T |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,221,622 (GRCm39) |
D812G |
possibly damaging |
Het |
Hmcn1 |
G |
T |
1: 150,610,238 (GRCm39) |
T1477K |
probably benign |
Het |
Ift80 |
A |
G |
3: 68,857,863 (GRCm39) |
S261P |
possibly damaging |
Het |
Kcnu1 |
A |
T |
8: 26,380,048 (GRCm39) |
D424V |
probably benign |
Het |
Kctd1 |
A |
G |
18: 15,140,757 (GRCm39) |
S658P |
probably damaging |
Het |
Klk12 |
A |
G |
7: 43,422,667 (GRCm39) |
D198G |
probably damaging |
Het |
Kntc1 |
T |
G |
5: 123,904,018 (GRCm39) |
L345R |
probably damaging |
Het |
Llph-ps2 |
A |
G |
X: 13,084,690 (GRCm39) |
|
noncoding transcript |
Het |
Lpxn |
T |
C |
19: 12,810,654 (GRCm39) |
I366T |
probably benign |
Het |
Lrp1 |
ACAGGCGC |
AC |
10: 127,376,057 (GRCm39) |
|
probably benign |
Het |
Maml3 |
G |
A |
3: 51,763,927 (GRCm39) |
Q346* |
probably null |
Het |
Mef2a |
T |
C |
7: 66,890,187 (GRCm39) |
N131S |
probably benign |
Het |
Mlc1 |
G |
A |
15: 88,858,740 (GRCm39) |
T136M |
probably damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Pcdhga9 |
A |
C |
18: 37,870,881 (GRCm39) |
N237H |
probably damaging |
Het |
Pde4dip |
C |
A |
3: 97,661,565 (GRCm39) |
E657D |
probably damaging |
Het |
Pknox2 |
A |
G |
9: 36,834,844 (GRCm39) |
|
probably benign |
Het |
Plcb3 |
C |
T |
19: 6,936,415 (GRCm39) |
|
probably benign |
Het |
Plxnd1 |
G |
A |
6: 115,945,005 (GRCm39) |
A99V |
probably benign |
Het |
Pnpla2 |
T |
C |
7: 141,037,257 (GRCm39) |
S87P |
probably damaging |
Het |
Ppp1r14c |
G |
T |
10: 3,316,912 (GRCm39) |
K82N |
probably damaging |
Het |
Pum3 |
G |
A |
19: 27,393,308 (GRCm39) |
T389M |
probably benign |
Het |
Pxdn |
A |
T |
12: 30,061,922 (GRCm39) |
T1165S |
probably benign |
Het |
Rasgrf2 |
T |
C |
13: 92,044,529 (GRCm39) |
D925G |
possibly damaging |
Het |
Samhd1 |
A |
T |
2: 156,943,670 (GRCm39) |
C615S |
probably damaging |
Het |
Sec16a |
A |
T |
2: 26,321,131 (GRCm39) |
Y1320* |
probably null |
Het |
Slco6b1 |
T |
A |
1: 96,916,422 (GRCm39) |
|
noncoding transcript |
Het |
Slitrk6 |
C |
A |
14: 110,987,602 (GRCm39) |
V702F |
probably benign |
Het |
Spata31d1b |
C |
A |
13: 59,864,675 (GRCm39) |
H608N |
probably damaging |
Het |
Spef1l |
A |
G |
7: 139,558,043 (GRCm39) |
I51T |
probably damaging |
Het |
Srpra |
T |
C |
9: 35,125,904 (GRCm39) |
I394T |
possibly damaging |
Het |
Svop |
C |
T |
5: 114,203,743 (GRCm39) |
V13M |
probably damaging |
Het |
Tacc3 |
T |
A |
5: 33,818,841 (GRCm39) |
|
probably benign |
Het |
Tango2 |
A |
T |
16: 18,119,392 (GRCm39) |
D146E |
probably damaging |
Het |
Thbs1 |
G |
A |
2: 117,949,897 (GRCm39) |
R624Q |
probably damaging |
Het |
Tmem161a |
T |
C |
8: 70,634,713 (GRCm39) |
|
probably null |
Het |
Tmem175 |
A |
G |
5: 108,792,468 (GRCm39) |
D248G |
possibly damaging |
Het |
Traf3ip2 |
A |
G |
10: 39,510,650 (GRCm39) |
N308D |
probably damaging |
Het |
Trim30b |
T |
C |
7: 104,006,538 (GRCm39) |
Y106C |
possibly damaging |
Het |
Trip11 |
G |
A |
12: 101,852,499 (GRCm39) |
Q521* |
probably null |
Het |
Tssk5 |
C |
T |
15: 76,256,668 (GRCm39) |
R280Q |
probably benign |
Het |
Ttc16 |
A |
T |
2: 32,660,071 (GRCm39) |
F246I |
probably benign |
Het |
Unc79 |
T |
C |
12: 102,968,062 (GRCm39) |
|
probably benign |
Het |
Vmn1r74 |
A |
G |
7: 11,580,696 (GRCm39) |
|
probably null |
Het |
Vmn2r16 |
A |
T |
5: 109,511,665 (GRCm39) |
Y624F |
possibly damaging |
Het |
Zc3h4 |
G |
A |
7: 16,168,579 (GRCm39) |
R896H |
unknown |
Het |
Zfp941 |
T |
A |
7: 140,391,503 (GRCm39) |
K619* |
probably null |
Het |
Zfp970 |
A |
T |
2: 177,167,473 (GRCm39) |
H349L |
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 |
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'- TTACCACTAGACACCCTGCG -3'
(R):5'- TAGGAGCCATTGTCCACAGAG -3'
Sequencing Primer
(F):5'- ACTAGACACCCTGCGGATTG -3'
(R):5'- GCCATTGTCCACAGAGTGTTTTTAAG -3'
|
Posted On |
2015-09-24 |