Incidental Mutation 'IGL00164:Gpd1'
| ID |
884 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gpd1
|
| Ensembl Gene |
ENSMUSG00000023019 |
| Gene Name |
glycerol-3-phosphate dehydrogenase 1 (soluble) |
| Synonyms |
Gdc1, Gdc-1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
99615468-99622895 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 99618532 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 172
(D172E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023760]
[ENSMUST00000023761]
[ENSMUST00000162194]
|
| AlphaFold |
P13707 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023760
AA Change: D195E
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000023760
Gene: ENSMUSG00000023019
AA Change: D195E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_Gly3P_dh_N
|
5 |
174 |
6.2e-57 |
PFAM |
|
Pfam:NAD_Gly3P_dh_C
|
193 |
340 |
8.5e-52 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023761
|
| SMART Domains |
Protein: ENSMUSP00000023761
Gene: ENSMUSG00000023020
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:COX14
|
1 |
55 |
1.4e-15 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161768
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162194
AA Change: D172E
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000125164
Gene: ENSMUSG00000023019
AA Change: D172E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NAD_Gly3P_dh_N
|
5 |
77 |
3.6e-21 |
PFAM |
|
Pfam:NAD_Gly3P_dh_N
|
71 |
151 |
1.9e-22 |
PFAM |
|
Pfam:NAD_Gly3P_dh_C
|
169 |
319 |
4.2e-60 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NAD-dependent glycerol-3-phosphate dehydrogenase family. The encoded protein plays a critical role in carbohydrate and lipid metabolism by catalyzing the reversible conversion of dihydroxyacetone phosphate (DHAP) and reduced nicotine adenine dinucleotide (NADH) to glycerol-3-phosphate (G3P) and NAD+. The encoded cytosolic protein and mitochondrial glycerol-3-phosphate dehydrogenase also form a glycerol phosphate shuttle that facilitates the transfer of reducing equivalents from the cytosol to mitochondria. Mutations in this gene are a cause of transient infantile hypertriglyceridemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Mar 2012]
PHENOTYPE: Mice homozygous for a spontaneous mutation are viable and phenotypically normal but show loss of glycerol-3-phosphate dehydrogenase 1 activity in adult tissues. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210408I21Rik |
T |
A |
13: 77,471,477 (GRCm39) |
|
probably benign |
Het |
| Abcg4 |
A |
G |
9: 44,186,439 (GRCm39) |
|
probably benign |
Het |
| Actr2 |
A |
G |
11: 20,030,015 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,267,581 (GRCm39) |
L843P |
probably benign |
Het |
| Cdk19 |
G |
A |
10: 40,312,161 (GRCm39) |
D137N |
probably benign |
Het |
| Cuedc2 |
T |
A |
19: 46,320,359 (GRCm39) |
I71F |
probably damaging |
Het |
| Dag1 |
A |
G |
9: 108,086,487 (GRCm39) |
V218A |
probably damaging |
Het |
| Dlg5 |
A |
C |
14: 24,208,532 (GRCm39) |
S868R |
possibly damaging |
Het |
| Ecsit |
C |
T |
9: 21,984,310 (GRCm39) |
G340D |
probably benign |
Het |
| Fkbp8 |
A |
G |
8: 70,987,211 (GRCm39) |
M358V |
probably damaging |
Het |
| Gckr |
G |
A |
5: 31,456,920 (GRCm39) |
V79M |
probably damaging |
Het |
| Josd2 |
T |
C |
7: 44,120,740 (GRCm39) |
|
probably benign |
Het |
| Kcna2 |
T |
C |
3: 107,011,946 (GRCm39) |
S176P |
probably damaging |
Het |
| Kcnq4 |
G |
A |
4: 120,555,213 (GRCm39) |
Q657* |
probably null |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Notch1 |
G |
A |
2: 26,350,058 (GRCm39) |
R2361W |
probably damaging |
Het |
| Or5w1 |
T |
C |
2: 87,486,582 (GRCm39) |
M228V |
probably benign |
Het |
| Palb2 |
A |
C |
7: 121,720,271 (GRCm39) |
|
probably benign |
Het |
| Pan2 |
C |
T |
10: 128,148,795 (GRCm39) |
Q452* |
probably null |
Het |
| Pcnx1 |
T |
C |
12: 81,941,875 (GRCm39) |
V91A |
probably damaging |
Het |
| Rgs22 |
T |
A |
15: 36,100,077 (GRCm39) |
I213F |
possibly damaging |
Het |
| Serpina3b |
G |
T |
12: 104,105,046 (GRCm39) |
W407C |
probably benign |
Het |
| Sf3b2 |
T |
C |
19: 5,329,615 (GRCm39) |
D687G |
probably benign |
Het |
| Slc8a3 |
T |
C |
12: 81,361,343 (GRCm39) |
E492G |
probably benign |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
| Surf1 |
C |
T |
2: 26,803,584 (GRCm39) |
|
probably null |
Het |
| Tmem190 |
T |
C |
7: 4,785,998 (GRCm39) |
|
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,483 (GRCm39) |
S1834P |
possibly damaging |
Het |
| Zfp607a |
G |
A |
7: 27,577,214 (GRCm39) |
E95K |
possibly damaging |
Het |
|
| Other mutations in Gpd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01338:Gpd1
|
APN |
15 |
99,616,056 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01947:Gpd1
|
APN |
15 |
99,618,112 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0366:Gpd1
|
UTSW |
15 |
99,617,151 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0551:Gpd1
|
UTSW |
15 |
99,618,510 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1789:Gpd1
|
UTSW |
15 |
99,621,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2429:Gpd1
|
UTSW |
15 |
99,618,488 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4130:Gpd1
|
UTSW |
15 |
99,617,158 (GRCm39) |
splice site |
probably null |
|
|
R5218:Gpd1
|
UTSW |
15 |
99,618,011 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5348:Gpd1
|
UTSW |
15 |
99,620,021 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5636:Gpd1
|
UTSW |
15 |
99,619,939 (GRCm39) |
missense |
probably benign |
|
|
R6228:Gpd1
|
UTSW |
15 |
99,621,146 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7196:Gpd1
|
UTSW |
15 |
99,619,936 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7479:Gpd1
|
UTSW |
15 |
99,617,984 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7508:Gpd1
|
UTSW |
15 |
99,619,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7509:Gpd1
|
UTSW |
15 |
99,619,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7714:Gpd1
|
UTSW |
15 |
99,619,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7716:Gpd1
|
UTSW |
15 |
99,619,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8044:Gpd1
|
UTSW |
15 |
99,621,083 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9747:Gpd1
|
UTSW |
15 |
99,618,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2011-07-12 |
Incidental Mutation