Incidental Mutation 'R1581:H6pd'
ID |
171388 |
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 |
039618-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R1581 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
150063932-150093480 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 150066971 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 472
(I472F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000081134
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
|
AlphaFold |
Q8CFX1 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030830
AA Change: I480F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000030830 Gene: ENSMUSG00000028980 AA Change: I480F
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 |
possibly damaging
Transcript: ENSMUST00000084117
AA Change: I472F
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000081134 Gene: ENSMUSG00000028980 AA Change: I472F
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: 99.1%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.6%
|
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd2 |
T |
C |
15: 91,063,347 (GRCm39) |
E447G |
probably benign |
Het |
Actn4 |
T |
C |
7: 28,598,071 (GRCm39) |
T510A |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,133,153 (GRCm39) |
M1311T |
possibly damaging |
Het |
Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Bicdl1 |
G |
T |
5: 115,789,326 (GRCm39) |
|
probably benign |
Het |
Bmyc |
T |
C |
2: 25,597,346 (GRCm39) |
S137P |
probably damaging |
Het |
Camsap3 |
C |
T |
8: 3,654,708 (GRCm39) |
R782C |
probably damaging |
Het |
Casc3 |
C |
T |
11: 98,713,644 (GRCm39) |
T292I |
possibly damaging |
Het |
Chmp7 |
C |
T |
14: 69,956,899 (GRCm39) |
M336I |
probably benign |
Het |
Cibar1 |
T |
A |
4: 12,155,745 (GRCm39) |
|
probably null |
Het |
Cnnm2 |
A |
G |
19: 46,751,562 (GRCm39) |
T451A |
probably damaging |
Het |
Eed |
T |
C |
7: 89,629,676 (GRCm39) |
K20E |
possibly damaging |
Het |
Eps15 |
T |
A |
4: 109,220,383 (GRCm39) |
M180K |
probably benign |
Het |
Esr1 |
T |
C |
10: 4,947,905 (GRCm39) |
I486T |
probably damaging |
Het |
Etnppl |
A |
G |
3: 130,422,393 (GRCm39) |
I207V |
possibly damaging |
Het |
Fancg |
G |
A |
4: 43,007,039 (GRCm39) |
P246L |
probably damaging |
Het |
Fcrl1 |
G |
A |
3: 87,293,030 (GRCm39) |
C249Y |
possibly damaging |
Het |
Foxred2 |
A |
G |
15: 77,839,961 (GRCm39) |
F110L |
possibly damaging |
Het |
Fsip2 |
A |
T |
2: 82,816,626 (GRCm39) |
N4120Y |
probably damaging |
Het |
Gm4884 |
C |
T |
7: 40,693,255 (GRCm39) |
S408L |
probably benign |
Het |
Gm9476 |
T |
C |
10: 100,142,474 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
T |
C |
11: 57,127,836 (GRCm39) |
|
probably null |
Het |
Hydin |
A |
T |
8: 111,137,092 (GRCm39) |
M632L |
probably benign |
Het |
Hyou1 |
C |
T |
9: 44,300,167 (GRCm39) |
P819S |
probably damaging |
Het |
Il6st |
A |
G |
13: 112,618,075 (GRCm39) |
E163G |
probably damaging |
Het |
Kcnk1 |
T |
C |
8: 126,722,278 (GRCm39) |
V27A |
possibly damaging |
Het |
Kdelr3 |
T |
C |
15: 79,407,114 (GRCm39) |
|
probably null |
Het |
Klk1b22 |
A |
G |
7: 43,765,399 (GRCm39) |
N117S |
possibly damaging |
Het |
Klrh1 |
T |
C |
6: 129,752,796 (GRCm39) |
D3G |
probably benign |
Het |
Lpp |
C |
A |
16: 24,500,591 (GRCm39) |
C134* |
probably null |
Het |
Lrrc37a |
G |
A |
11: 103,347,843 (GRCm39) |
R2951* |
probably null |
Het |
Luzp2 |
T |
A |
7: 54,899,238 (GRCm39) |
D285E |
possibly damaging |
Het |
Ly75 |
C |
T |
2: 60,158,237 (GRCm39) |
R1016H |
probably damaging |
Het |
Mesp2 |
T |
A |
7: 79,462,289 (GRCm39) |
S282T |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,659,289 (GRCm39) |
D776G |
probably damaging |
Het |
Nr2e1 |
T |
C |
10: 42,443,964 (GRCm39) |
T253A |
probably benign |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Or1r1 |
A |
T |
11: 73,875,347 (GRCm39) |
L29H |
probably damaging |
Het |
Padi6 |
T |
C |
4: 140,463,147 (GRCm39) |
Y146C |
probably damaging |
Het |
Pank4 |
C |
T |
4: 155,059,108 (GRCm39) |
R414W |
probably damaging |
Het |
Pclo |
T |
G |
5: 14,571,296 (GRCm39) |
I227S |
probably benign |
Het |
Plppr4 |
A |
G |
3: 117,121,915 (GRCm39) |
V221A |
possibly damaging |
Het |
Pradc1 |
G |
A |
6: 85,425,568 (GRCm39) |
R25C |
probably damaging |
Het |
Rfwd3 |
C |
T |
8: 112,014,874 (GRCm39) |
R326Q |
probably damaging |
Het |
Rnd2 |
A |
G |
11: 101,362,022 (GRCm39) |
T192A |
probably benign |
Het |
Rtbdn |
A |
G |
8: 85,681,695 (GRCm39) |
E131G |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,809,449 (GRCm39) |
V792A |
probably benign |
Het |
Sacs |
G |
T |
14: 61,451,128 (GRCm39) |
Q4391H |
probably damaging |
Het |
Scd2 |
A |
G |
19: 44,286,538 (GRCm39) |
S123G |
probably benign |
Het |
Septin9 |
A |
G |
11: 117,181,421 (GRCm39) |
R74G |
probably damaging |
Het |
Sipa1l2 |
T |
A |
8: 126,218,356 (GRCm39) |
Q327L |
probably damaging |
Het |
Skor1 |
T |
C |
9: 63,053,505 (GRCm39) |
T127A |
probably damaging |
Het |
Sphk2 |
A |
G |
7: 45,362,920 (GRCm39) |
V57A |
probably damaging |
Het |
Tfec |
A |
T |
6: 16,844,243 (GRCm39) |
D101E |
probably damaging |
Het |
Tmem43 |
T |
A |
6: 91,455,717 (GRCm39) |
H109Q |
probably benign |
Het |
Tmem67 |
C |
A |
4: 12,047,814 (GRCm39) |
S839I |
probably damaging |
Het |
Trpv5 |
T |
C |
6: 41,630,074 (GRCm39) |
Y672C |
probably damaging |
Het |
Ttc39d |
A |
C |
17: 80,523,913 (GRCm39) |
S191R |
probably benign |
Het |
Ttll1 |
C |
T |
15: 83,380,478 (GRCm39) |
V296M |
probably damaging |
Het |
Upp2 |
A |
C |
2: 58,664,177 (GRCm39) |
K130T |
possibly damaging |
Het |
Vmn2r5 |
A |
G |
3: 64,398,640 (GRCm39) |
C780R |
probably damaging |
Het |
Wars1 |
C |
A |
12: 108,841,635 (GRCm39) |
E171* |
probably null |
Het |
Zeb2 |
A |
T |
2: 44,887,012 (GRCm39) |
S637T |
probably damaging |
Het |
Zfp27 |
T |
A |
7: 29,595,549 (GRCm39) |
T139S |
possibly damaging |
Het |
Zfp941 |
A |
T |
7: 140,392,033 (GRCm39) |
L442Q |
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 |
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'- AACTTGCCGAAGTGCCGTACTG -3'
(R):5'- TCAGCCGGAACCTGTTCAAACC -3'
Sequencing Primer
(F):5'- AATCAGTGGGCTCTGTCTATAC -3'
(R):5'- GGAACCTGTTCAAACCCTCAC -3'
|
Posted On |
2014-04-13 |