Incidental Mutation 'R7258:H6pd'
| ID |
564407 |
| 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 |
045386-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R7258 (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 C
at 150080819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 9
(M9V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030830
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
[ENSMUST00000153394]
|
| AlphaFold |
Q8CFX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030830
AA Change: M9V
PolyPhen 2
Score 0.088 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: M9V
| 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 null
Transcript: ENSMUST00000084117
AA Change: M1V
|
| SMART Domains |
Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: M1V
| 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 null
Transcript: ENSMUST00000153394
AA Change: M1V
|
| SMART Domains |
Protein: ENSMUSP00000115647
Gene: ENSMUSG00000028980
AA Change: M1V
| 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: 98.8%
|
| Validation Efficiency |
98% (63/64) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402J07Rik |
A |
C |
8: 88,312,805 (GRCm39) |
S197R |
probably damaging |
Het |
| Abcc12 |
T |
C |
8: 87,287,486 (GRCm39) |
R120G |
possibly damaging |
Het |
| Abhd14b |
A |
G |
9: 106,327,418 (GRCm39) |
I67V |
probably benign |
Het |
| Alpk1 |
A |
T |
3: 127,518,115 (GRCm39) |
V62E |
probably damaging |
Het |
| Ankar |
A |
G |
1: 72,690,886 (GRCm39) |
V1196A |
probably benign |
Het |
| Ccr5 |
A |
T |
9: 123,925,311 (GRCm39) |
K305* |
probably null |
Het |
| Cdc42bpb |
T |
C |
12: 111,292,518 (GRCm39) |
H339R |
probably damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,899,648 (GRCm38) |
F91L |
|
Het |
| Cep290 |
T |
G |
10: 100,334,970 (GRCm39) |
M330R |
probably benign |
Het |
| Cyfip2 |
T |
C |
11: 46,115,004 (GRCm39) |
Y901C |
probably benign |
Het |
| Ddx54 |
T |
G |
5: 120,758,812 (GRCm39) |
Y352D |
probably damaging |
Het |
| Defa35 |
A |
T |
8: 21,555,245 (GRCm39) |
H55L |
possibly damaging |
Het |
| Dnmt3b |
T |
A |
2: 153,525,519 (GRCm39) |
|
probably null |
Het |
| Enpep |
A |
C |
3: 129,125,724 (GRCm39) |
L136R |
probably benign |
Het |
| Epb41l2 |
G |
A |
10: 25,360,185 (GRCm39) |
A516T |
probably damaging |
Het |
| Frmd4a |
A |
T |
2: 4,305,764 (GRCm39) |
Q13L |
probably benign |
Het |
| Frmpd1 |
C |
A |
4: 45,269,974 (GRCm39) |
D271E |
possibly damaging |
Het |
| Gbp5 |
T |
A |
3: 142,212,542 (GRCm39) |
L410H |
probably damaging |
Het |
| Gipc2 |
T |
C |
3: 151,871,352 (GRCm39) |
E58G |
probably damaging |
Het |
| Gm6309 |
A |
T |
5: 146,105,106 (GRCm39) |
V269E |
probably benign |
Het |
| Grm5 |
A |
T |
7: 87,723,914 (GRCm39) |
T735S |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,591,574 (GRCm39) |
I1875T |
probably benign |
Het |
| Hrc |
T |
A |
7: 44,985,720 (GRCm39) |
D290E |
possibly damaging |
Het |
| Iftap |
T |
C |
2: 101,440,937 (GRCm39) |
D22G |
probably null |
Het |
| Ippk |
C |
A |
13: 49,587,338 (GRCm39) |
Q136K |
probably benign |
Het |
| Kcnv1 |
T |
C |
15: 44,972,711 (GRCm39) |
T391A |
probably damaging |
Het |
| Kdm5b |
A |
C |
1: 134,548,759 (GRCm39) |
E1088A |
probably damaging |
Het |
| L1td1 |
C |
T |
4: 98,625,101 (GRCm39) |
A432V |
probably benign |
Het |
| Ly86 |
A |
G |
13: 37,529,473 (GRCm39) |
D20G |
probably benign |
Het |
| Myo1g |
A |
G |
11: 6,459,416 (GRCm39) |
I818T |
possibly damaging |
Het |
| Nms |
A |
G |
1: 38,986,051 (GRCm39) |
T121A |
probably benign |
Het |
| Or1e31 |
T |
G |
11: 73,690,206 (GRCm39) |
I126L |
probably damaging |
Het |
| Or1j4 |
T |
A |
2: 36,740,352 (GRCm39) |
I98K |
probably damaging |
Het |
| Or51af1 |
G |
C |
7: 103,141,796 (GRCm39) |
C96W |
probably damaging |
Het |
| Or6b3 |
A |
T |
1: 92,438,898 (GRCm39) |
I284N |
possibly damaging |
Het |
| Or6c69 |
T |
A |
10: 129,748,156 (GRCm39) |
|
probably benign |
Het |
| Or8k37 |
T |
A |
2: 86,469,345 (GRCm39) |
K236* |
probably null |
Het |
| Pcdhb9 |
T |
C |
18: 37,535,167 (GRCm39) |
L387P |
probably damaging |
Het |
| Pcsk1 |
G |
A |
13: 75,241,305 (GRCm39) |
R95H |
probably damaging |
Het |
| Pde11a |
T |
C |
2: 75,970,250 (GRCm39) |
D502G |
possibly damaging |
Het |
| Plekhg2 |
T |
C |
7: 28,064,203 (GRCm39) |
D446G |
probably benign |
Het |
| Ptch1 |
T |
C |
13: 63,721,108 (GRCm39) |
K54E |
not run |
Het |
| Rasal2 |
A |
T |
1: 156,985,270 (GRCm39) |
L826M |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
| Sin3b |
T |
C |
8: 73,476,836 (GRCm39) |
C757R |
probably benign |
Het |
| Slc41a1 |
T |
A |
1: 131,769,780 (GRCm39) |
V300D |
probably benign |
Het |
| Snorc |
A |
C |
1: 87,402,789 (GRCm39) |
I40L |
probably benign |
Het |
| Snrpa1 |
T |
C |
7: 65,719,891 (GRCm39) |
F162L |
probably damaging |
Het |
| Sox30 |
C |
A |
11: 45,871,379 (GRCm39) |
A78E |
unknown |
Het |
| Ssc4d |
G |
T |
5: 135,991,941 (GRCm39) |
A401E |
probably damaging |
Het |
| Steap3 |
A |
G |
1: 120,171,716 (GRCm39) |
F130L |
possibly damaging |
Het |
| Stx5a |
A |
G |
19: 8,732,271 (GRCm39) |
|
probably null |
Het |
| Tgfbr2 |
A |
T |
9: 115,958,898 (GRCm39) |
I172N |
probably damaging |
Het |
| Tgm4 |
A |
G |
9: 122,891,556 (GRCm39) |
D557G |
probably benign |
Het |
| Tmprss11c |
A |
G |
5: 86,419,272 (GRCm39) |
S96P |
probably damaging |
Het |
| Trpa1 |
T |
G |
1: 14,973,473 (GRCm39) |
T282P |
probably damaging |
Het |
| Uba5 |
A |
T |
9: 103,940,132 (GRCm39) |
V5E |
unknown |
Het |
| Ugt2b36 |
A |
T |
5: 87,228,762 (GRCm39) |
L427H |
probably damaging |
Het |
| Utp14b |
T |
A |
1: 78,642,691 (GRCm39) |
H196Q |
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,380,848 (GRCm39) |
L348F |
probably damaging |
Het |
| Vmn2r93 |
T |
G |
17: 18,525,403 (GRCm39) |
L354V |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 48,296,034 (GRCm39) |
N1079Y |
unknown |
Het |
| Zfp653 |
T |
C |
9: 21,977,116 (GRCm39) |
D145G |
probably benign |
Het |
| Zfp777 |
T |
C |
6: 48,002,731 (GRCm39) |
E453G |
probably damaging |
Het |
| Zfp936 |
T |
A |
7: 42,839,803 (GRCm39) |
H423Q |
probably damaging |
Het |
| Zfyve9 |
A |
T |
4: 108,514,151 (GRCm39) |
Y496N |
possibly 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 |
|
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'- GTGGAAGCTGAAACTGTGGC -3'
(R):5'- AAGCTCCCGACATACTTTTGGC -3'
Sequencing Primer
(F):5'- AAGCTGAAACTGTGGCCCTTC -3'
(R):5'- CCGACATACTTTTGGCACGGAAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation