Incidental Mutation 'R6266:H6pd'
| ID |
506994 |
| 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 |
044378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.105)
|
| Stock # |
R6266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150063932-150093480 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 150080414 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 136
(I136V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115647
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030830]
[ENSMUST00000084117]
[ENSMUST00000153394]
|
| AlphaFold |
Q8CFX1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030830
AA Change: I144V
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000030830
Gene: ENSMUSG00000028980
AA Change: I144V
| 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 benign
Transcript: ENSMUST00000084117
AA Change: I136V
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000081134
Gene: ENSMUSG00000028980
AA Change: I136V
| 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 benign
Transcript: ENSMUST00000153394
AA Change: I136V
PolyPhen 2
Score 0.321 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000115647
Gene: ENSMUSG00000028980
AA Change: I136V
| 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: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,320,206 (GRCm39) |
T295A |
probably benign |
Het |
| Aldh2 |
C |
A |
5: 121,706,997 (GRCm39) |
V217L |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,123,844 (GRCm39) |
R392C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,977 (GRCm39) |
L75R |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,149,688 (GRCm39) |
K640N |
probably benign |
Het |
| Brap |
A |
T |
5: 121,823,328 (GRCm39) |
T487S |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,601,632 (GRCm39) |
P276L |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,361,503 (GRCm39) |
E343G |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,738,647 (GRCm39) |
S1097G |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,514 (GRCm39) |
V53D |
probably damaging |
Het |
| Ddx3y |
G |
A |
Y: 1,266,635 (GRCm39) |
T274I |
probably damaging |
Homo |
| Dnah5 |
T |
A |
15: 28,335,773 (GRCm39) |
F2246L |
possibly damaging |
Het |
| Dock3 |
T |
A |
9: 106,841,952 (GRCm39) |
H959L |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,350,442 (GRCm39) |
S406P |
probably damaging |
Het |
| Efcab8 |
T |
C |
2: 153,625,688 (GRCm39) |
L116P |
probably damaging |
Het |
| Efnb2 |
T |
C |
8: 8,710,524 (GRCm39) |
I31V |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,549,911 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,426,683 (GRCm39) |
N1133K |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,287,864 (GRCm39) |
S1219P |
probably benign |
Het |
| Gm7298 |
A |
T |
6: 121,759,663 (GRCm39) |
R1187S |
probably damaging |
Het |
| Hyal2 |
A |
G |
9: 107,447,914 (GRCm39) |
N189S |
probably benign |
Het |
| Jmjd1c |
C |
T |
10: 67,085,439 (GRCm39) |
P2410S |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,933,089 (GRCm39) |
D231G |
probably damaging |
Het |
| Lilra5 |
T |
A |
7: 4,244,927 (GRCm39) |
S233T |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,641,340 (GRCm39) |
F508S |
probably damaging |
Het |
| Marchf4 |
T |
C |
1: 72,491,647 (GRCm39) |
Y208C |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,566,140 (GRCm39) |
R85G |
probably damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,201,476 (GRCm39) |
C45* |
probably null |
Het |
| Or10ag2 |
T |
A |
2: 87,249,350 (GRCm39) |
S319R |
probably benign |
Het |
| Or2n1e |
A |
G |
17: 38,586,039 (GRCm39) |
I126V |
probably benign |
Het |
| Ppp2r5d |
G |
T |
17: 46,996,629 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
A |
T |
2: 53,046,639 (GRCm39) |
S324T |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,199 (GRCm39) |
D94G |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,336,767 (GRCm39) |
T140A |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rbp3 |
G |
A |
14: 33,676,418 (GRCm39) |
R122H |
probably benign |
Het |
| Relch |
T |
G |
1: 105,659,007 (GRCm39) |
|
probably null |
Het |
| Rrp8 |
T |
C |
7: 105,385,596 (GRCm39) |
E3G |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,371,485 (GRCm39) |
S37P |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,085,099 (GRCm39) |
R939G |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,051,814 (GRCm39) |
S608P |
possibly damaging |
Het |
| Sntg1 |
T |
C |
1: 8,624,953 (GRCm39) |
Q281R |
possibly damaging |
Het |
| Spata31d1e |
C |
T |
13: 59,890,126 (GRCm39) |
V147I |
probably benign |
Het |
| Tefm |
A |
G |
11: 80,028,814 (GRCm39) |
L194P |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,547 (GRCm39) |
V145E |
probably damaging |
Het |
| Tmem231 |
T |
A |
8: 112,641,897 (GRCm39) |
E219V |
probably null |
Het |
| Tmx3 |
T |
A |
18: 90,555,334 (GRCm39) |
|
probably null |
Het |
| Tns3 |
G |
A |
11: 8,442,987 (GRCm39) |
P459S |
probably damaging |
Het |
| Trav13d-1 |
T |
A |
14: 53,089,220 (GRCm39) |
S76R |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,681,210 (GRCm39) |
N254S |
probably damaging |
Het |
| Tsen34 |
A |
G |
7: 3,696,984 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,959,064 (GRCm39) |
V701A |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,159,411 (GRCm39) |
S513P |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,141,176 (GRCm39) |
S392T |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,899,007 (GRCm39) |
C450S |
probably benign |
Het |
| Zfp128 |
T |
C |
7: 12,624,897 (GRCm39) |
Y422H |
possibly damaging |
Het |
| Zkscan7 |
C |
T |
9: 122,724,299 (GRCm39) |
Q423* |
probably null |
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 |
|
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'- TGCCGAGGTAATGATCCACAC -3'
(R):5'- AAGCTCATGGACAAGGTCTTG -3'
Sequencing Primer
(F):5'- GGTAATGATCCACACGGTACATCTC -3'
(R):5'- CTCATGGACAAGGTCTTGGAATCC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation