Incidental Mutation 'R9275:H6pd'
| ID |
703212 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H6pd
|
| Ensembl Gene |
ENSMUSG00000028980 |
| Gene Name |
hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase) |
| Synonyms |
Gpd1, G6pd1, Gpd-1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R9275 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
150063932-150093480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 150080307 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 179
(K179N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
[ENSMUST00000153394]
|
| AlphaFold |
Q8CFX1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030830
AA Change: K179N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: K179N
| 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: K171N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: K171N
| 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 damaging
Transcript: ENSMUST00000153394
AA Change: K171N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115647
Gene: ENSMUSG00000028980
AA Change: K171N
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
100% (66/66) |
| 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 |
|---|
| Abr |
A |
G |
11: 76,355,108 (GRCm39) |
Y249H |
probably damaging |
Het |
| Afdn |
T |
A |
17: 14,024,270 (GRCm39) |
C59S |
probably damaging |
Het |
| Akap11 |
C |
A |
14: 78,751,149 (GRCm39) |
V413F |
|
Het |
| Ank3 |
T |
C |
10: 69,822,662 (GRCm39) |
S444P |
probably damaging |
Het |
| Ankrd12 |
C |
T |
17: 66,344,599 (GRCm39) |
E91K |
possibly damaging |
Het |
| Arhgap10 |
A |
G |
8: 78,137,665 (GRCm39) |
S309P |
probably damaging |
Het |
| Arpc2 |
C |
A |
1: 74,276,041 (GRCm39) |
F19L |
probably benign |
Het |
| Atp5f1a |
C |
T |
18: 77,868,997 (GRCm39) |
T457I |
probably damaging |
Het |
| Bsn |
C |
T |
9: 107,988,819 (GRCm39) |
R2311H |
probably damaging |
Het |
| C1ra |
A |
G |
6: 124,494,383 (GRCm39) |
T277A |
probably benign |
Het |
| Celsr3 |
C |
G |
9: 108,715,689 (GRCm39) |
L2124V |
probably benign |
Het |
| Cenpv |
T |
C |
11: 62,415,989 (GRCm39) |
*253W |
probably null |
Het |
| Cfap54 |
A |
T |
10: 92,875,048 (GRCm39) |
V479E |
possibly damaging |
Het |
| Clec1a |
T |
C |
6: 129,428,564 (GRCm39) |
|
probably benign |
Het |
| Cmpk2 |
A |
T |
12: 26,519,568 (GRCm39) |
Y73F |
probably benign |
Het |
| Cpne2 |
T |
C |
8: 95,281,643 (GRCm39) |
I226T |
possibly damaging |
Het |
| Cyp2c67 |
C |
T |
19: 39,597,699 (GRCm39) |
R433Q |
probably damaging |
Het |
| Dagla |
A |
G |
19: 10,232,220 (GRCm39) |
Y489H |
probably damaging |
Het |
| Dennd4a |
C |
A |
9: 64,749,906 (GRCm39) |
P166T |
probably damaging |
Het |
| Dnm2 |
C |
T |
9: 21,416,977 (GRCm39) |
R837W |
possibly damaging |
Het |
| Enpp2 |
C |
T |
15: 54,713,484 (GRCm39) |
R658Q |
probably benign |
Het |
| Gm10521 |
G |
A |
1: 171,724,030 (GRCm39) |
V114I |
unknown |
Het |
| H2-T24 |
T |
A |
17: 36,328,276 (GRCm39) |
E69V |
probably damaging |
Het |
| Hsf2bp |
C |
T |
17: 32,206,336 (GRCm39) |
W265* |
probably null |
Het |
| Igfn1 |
C |
A |
1: 135,901,185 (GRCm39) |
R431L |
probably damaging |
Het |
| Kcng2 |
T |
C |
18: 80,339,074 (GRCm39) |
S405G |
possibly damaging |
Het |
| Leng9 |
T |
C |
7: 4,151,447 (GRCm39) |
T410A |
probably benign |
Het |
| Lrp1b |
T |
C |
2: 40,487,076 (GRCm39) |
Y4557C |
|
Het |
| Ltbp2 |
G |
A |
12: 84,837,864 (GRCm39) |
P1192L |
probably benign |
Het |
| Mlkl |
A |
G |
8: 112,043,055 (GRCm39) |
V364A |
probably benign |
Het |
| Mns1 |
T |
A |
9: 72,356,507 (GRCm39) |
F254Y |
probably benign |
Het |
| Naip1 |
T |
A |
13: 100,562,684 (GRCm39) |
N827I |
probably damaging |
Het |
| Neb |
C |
T |
2: 52,146,190 (GRCm39) |
R2929H |
probably damaging |
Het |
| Or5m13 |
A |
G |
2: 85,749,046 (GRCm39) |
Y259C |
probably benign |
Het |
| Or5v1b |
T |
A |
17: 37,841,819 (GRCm39) |
M317K |
probably benign |
Het |
| Pde10a |
A |
G |
17: 9,200,488 (GRCm39) |
*797W |
probably null |
Het |
| Pirb |
T |
G |
7: 3,719,859 (GRCm39) |
H429P |
probably benign |
Het |
| Plbd1 |
A |
G |
6: 136,594,286 (GRCm39) |
L321P |
probably damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,262,471 (GRCm39) |
I722V |
probably benign |
Het |
| Polr2b |
A |
G |
5: 77,471,485 (GRCm39) |
R274G |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 17,101,144 (GRCm39) |
T2216I |
probably benign |
Het |
| Psma3 |
A |
T |
12: 71,041,156 (GRCm39) |
D252V |
probably benign |
Het |
| Ptpn1 |
C |
T |
2: 167,816,176 (GRCm39) |
T230I |
probably damaging |
Het |
| Rhpn1 |
T |
C |
15: 75,585,120 (GRCm39) |
V519A |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,326,768 (GRCm39) |
V1586A |
|
Het |
| Rrp36 |
T |
A |
17: 46,983,306 (GRCm39) |
K103* |
probably null |
Het |
| Ryr2 |
T |
C |
13: 11,897,976 (GRCm39) |
T140A |
probably benign |
Het |
| Scn1a |
T |
A |
2: 66,130,026 (GRCm39) |
Y243F |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 141,941,953 (GRCm39) |
T534A |
possibly damaging |
Het |
| Slc27a5 |
T |
C |
7: 12,731,640 (GRCm39) |
D117G |
probably damaging |
Het |
| Slc2a1 |
A |
T |
4: 118,990,607 (GRCm39) |
E246D |
probably benign |
Het |
| Smpd2 |
T |
C |
10: 41,363,685 (GRCm39) |
D289G |
probably benign |
Het |
| Spag6 |
A |
C |
2: 18,703,985 (GRCm39) |
E11A |
probably benign |
Het |
| Stard3 |
G |
A |
11: 98,262,931 (GRCm39) |
|
probably benign |
Het |
| Tcf19 |
A |
G |
17: 35,825,899 (GRCm39) |
V86A |
probably damaging |
Het |
| Tcstv7a |
T |
C |
13: 120,289,993 (GRCm39) |
S68G |
possibly damaging |
Het |
| Tigit |
A |
T |
16: 43,479,833 (GRCm39) |
M154K |
probably benign |
Het |
| Trim34a |
T |
A |
7: 103,910,201 (GRCm39) |
N334K |
probably damaging |
Het |
| Tsen15 |
T |
C |
1: 152,259,098 (GRCm39) |
I87V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,738,218 (GRCm39) |
M4153K |
unknown |
Het |
| Uchl3 |
A |
T |
14: 101,905,963 (GRCm39) |
|
probably null |
Het |
| Usp1 |
A |
G |
4: 98,819,578 (GRCm39) |
K347E |
probably damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,479 (GRCm39) |
M99T |
probably benign |
Het |
| Vmn2r20 |
A |
G |
6: 123,362,394 (GRCm39) |
W797R |
probably damaging |
Het |
| Vwa7 |
A |
G |
17: 35,238,712 (GRCm39) |
T267A |
probably damaging |
Het |
| Zpld2 |
A |
G |
4: 133,922,770 (GRCm39) |
L521P |
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 |
|
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 |
|
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'- CAGCTCAGTTTTCCATTCGG -3'
(R):5'- ATACCGCCAGCTGAAGACAG -3'
Sequencing Primer
(F):5'- CATTCGGCAGTGAGTTCCTCG -3'
(R):5'- AGTGGAGGACTATCAGACCCTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation