Incidental Mutation 'R5474:H6pd'
ID |
433965 |
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 |
043035-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.112)
|
Stock # |
R5474 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
150063932-150093480 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 150080546 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 92
(C92R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115647
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
[ENSMUST00000153394]
|
AlphaFold |
Q8CFX1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030830
AA Change: C100R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030830 Gene: ENSMUSG00000028980 AA Change: C100R
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: C92R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000081134 Gene: ENSMUSG00000028980 AA Change: C92R
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 |
noncoding transcript
Transcript: ENSMUST00000152907
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000153394
AA Change: C92R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000115647 Gene: ENSMUSG00000028980 AA Change: C92R
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
Pfam:G6PD_N
|
26 |
172 |
5e-21 |
PFAM |
|
Coding Region Coverage |
- 1x: 98.2%
- 3x: 97.2%
- 10x: 95.0%
- 20x: 90.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb5 |
C |
T |
12: 118,904,425 (GRCm39) |
G122S |
probably null |
Het |
Ankmy1 |
T |
C |
1: 92,812,926 (GRCm39) |
D461G |
possibly damaging |
Het |
Ascc3 |
T |
C |
10: 50,725,634 (GRCm39) |
I2119T |
probably benign |
Het |
Bud13 |
G |
C |
9: 46,199,251 (GRCm39) |
R204T |
probably damaging |
Het |
Clec4a4 |
T |
C |
6: 122,989,706 (GRCm39) |
S116P |
probably damaging |
Het |
Cnga1 |
T |
C |
5: 72,762,536 (GRCm39) |
Y326C |
probably damaging |
Het |
Cngb1 |
A |
T |
8: 95,978,597 (GRCm39) |
I588N |
probably damaging |
Het |
Cspg5 |
A |
T |
9: 110,080,076 (GRCm39) |
I334F |
probably damaging |
Het |
Cyp2c29 |
G |
A |
19: 39,313,436 (GRCm39) |
A350T |
probably damaging |
Het |
D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
Dgkq |
A |
G |
5: 108,797,009 (GRCm39) |
|
probably null |
Het |
Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
Dock4 |
T |
C |
12: 40,795,730 (GRCm39) |
I849T |
probably benign |
Het |
Drd4 |
T |
C |
7: 140,873,641 (GRCm39) |
W98R |
probably damaging |
Het |
Duox1 |
A |
T |
2: 122,177,106 (GRCm39) |
Q1511L |
probably benign |
Het |
Gtdc1 |
A |
T |
2: 44,646,379 (GRCm39) |
L83Q |
probably damaging |
Het |
H2-T3 |
G |
A |
17: 36,500,999 (GRCm39) |
P6S |
probably damaging |
Het |
Ide |
A |
G |
19: 37,249,583 (GRCm39) |
V923A |
unknown |
Het |
Kcnc4 |
A |
T |
3: 107,355,207 (GRCm39) |
S414T |
possibly damaging |
Het |
Krt14 |
A |
T |
11: 100,095,571 (GRCm39) |
M278K |
probably damaging |
Het |
Lrit1 |
T |
A |
14: 36,783,943 (GRCm39) |
S424T |
probably benign |
Het |
Muc4 |
G |
A |
16: 32,581,635 (GRCm39) |
S2500N |
unknown |
Het |
Ncs1 |
A |
T |
2: 31,170,796 (GRCm39) |
N70Y |
probably damaging |
Het |
Nemf |
C |
A |
12: 69,363,109 (GRCm39) |
R923L |
probably benign |
Het |
Nrros |
T |
C |
16: 31,963,170 (GRCm39) |
I246M |
probably benign |
Het |
Or5w13 |
G |
A |
2: 87,523,401 (GRCm39) |
S275F |
probably damaging |
Het |
Or6a2 |
T |
A |
7: 106,600,296 (GRCm39) |
Y257F |
probably damaging |
Het |
Or8g51 |
T |
A |
9: 38,609,609 (GRCm39) |
T18S |
possibly damaging |
Het |
Polb |
A |
G |
8: 23,120,386 (GRCm39) |
Y296H |
probably benign |
Het |
Prrc2a |
A |
T |
17: 35,378,189 (GRCm39) |
F440L |
unknown |
Het |
Prrc2c |
T |
C |
1: 162,537,213 (GRCm39) |
|
probably benign |
Het |
Ptprk |
C |
T |
10: 28,372,926 (GRCm39) |
R726* |
probably null |
Het |
Rnpc3 |
A |
T |
3: 113,409,158 (GRCm39) |
L247* |
probably null |
Het |
Scfd2 |
C |
T |
5: 74,692,025 (GRCm39) |
V86I |
probably benign |
Het |
Sec14l5 |
A |
G |
16: 4,996,382 (GRCm39) |
T443A |
possibly damaging |
Het |
Slc22a29 |
A |
G |
19: 8,195,221 (GRCm39) |
V138A |
probably damaging |
Het |
Usp15 |
T |
C |
10: 122,963,950 (GRCm39) |
D524G |
probably damaging |
Het |
Vav3 |
A |
G |
3: 109,571,737 (GRCm39) |
T220A |
probably benign |
Het |
Vmn2r17 |
G |
A |
5: 109,582,150 (GRCm39) |
S513N |
probably damaging |
Het |
Zfp84 |
C |
T |
7: 29,476,514 (GRCm39) |
S402L |
probably damaging |
Het |
Zfta |
A |
T |
19: 7,397,524 (GRCm39) |
R24W |
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 |
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 |
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'- GCAGCTGCTGTTGATGTTAC -3'
(R):5'- TGTTTCCATAATCCTGCTGGG -3'
Sequencing Primer
(F):5'- CTGTTGATGTTACGGGCAATGTC -3'
(R):5'- TGGGAGCAACCGGGGAC -3'
|
Posted On |
2016-10-06 |