Incidental Mutation 'R4130:Gpd1'
| ID |
315517 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpd1
|
| Ensembl Gene |
ENSMUSG00000023019 |
| Gene Name |
glycerol-3-phosphate dehydrogenase 1 (soluble) |
| Synonyms |
Gdc1, Gdc-1 |
| MMRRC Submission |
041636-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4130 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99615468-99622895 bp(+) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 99617158 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125164
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023760]
[ENSMUST00000162194]
|
| AlphaFold |
P13707 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000023760
|
| SMART Domains |
Protein: ENSMUSP00000023760
Gene: ENSMUSG00000023019
| 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 |
noncoding transcript
Transcript: ENSMUST00000161529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161768
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162194
|
| SMART Domains |
Protein: ENSMUSP00000125164
Gene: ENSMUSG00000023019
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700021A07Rik |
T |
C |
10: 21,301,441 (GRCm39) |
|
noncoding transcript |
Het |
| A4gnt |
A |
G |
9: 99,502,671 (GRCm39) |
D277G |
possibly damaging |
Het |
| Adam12 |
C |
T |
7: 133,514,653 (GRCm39) |
V345I |
probably damaging |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Arpp21 |
T |
A |
9: 111,984,376 (GRCm39) |
|
probably benign |
Het |
| Bbx |
T |
C |
16: 50,045,221 (GRCm39) |
K447E |
probably damaging |
Het |
| Bcar1 |
A |
G |
8: 112,440,797 (GRCm39) |
L399P |
possibly damaging |
Het |
| Cytl1 |
T |
C |
5: 37,892,985 (GRCm39) |
S32P |
probably damaging |
Het |
| Eif4e1b |
C |
T |
13: 54,935,130 (GRCm39) |
T219M |
probably benign |
Het |
| F10 |
A |
G |
8: 13,105,584 (GRCm39) |
D383G |
possibly damaging |
Het |
| Gm37267 |
T |
G |
1: 180,336,643 (GRCm39) |
|
noncoding transcript |
Het |
| Golga2 |
G |
A |
2: 32,178,178 (GRCm39) |
R29H |
probably benign |
Het |
| Lrrk2 |
G |
A |
15: 91,639,997 (GRCm39) |
R1514Q |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,568,188 (GRCm39) |
E1511G |
unknown |
Het |
| Nup35 |
G |
A |
2: 80,486,443 (GRCm39) |
|
probably benign |
Het |
| Or13n4 |
C |
T |
7: 106,422,792 (GRCm39) |
G314S |
probably benign |
Het |
| Pdzd9 |
A |
T |
7: 120,262,092 (GRCm39) |
D123E |
possibly damaging |
Het |
| Pramel29 |
T |
A |
4: 143,935,379 (GRCm39) |
I121F |
probably damaging |
Het |
| Rab3gap2 |
A |
G |
1: 184,936,494 (GRCm39) |
D19G |
possibly damaging |
Het |
| Rnf213 |
T |
C |
11: 119,373,832 (GRCm39) |
S4972P |
probably damaging |
Het |
| Skap1 |
A |
G |
11: 96,416,871 (GRCm39) |
Y52C |
probably damaging |
Het |
| Sphkap |
T |
C |
1: 83,255,619 (GRCm39) |
N710S |
probably damaging |
Het |
| Tedc1 |
T |
A |
12: 113,126,828 (GRCm39) |
D363E |
probably benign |
Het |
| Vmn2r44 |
T |
A |
7: 8,370,918 (GRCm39) |
Q709H |
probably damaging |
Het |
| Wdr5 |
G |
T |
2: 27,410,441 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gpd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00164:Gpd1
|
APN |
15 |
99,618,532 (GRCm39) |
missense |
probably benign |
0.01 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGGGACTAGGAGAGGTCTAC -3'
(R):5'- TTTGTTAAGTAGCCCAGCAGC -3'
Sequencing Primer
(F):5'- CTAGGAGAGGTCTACCAGGCAC -3'
(R):5'- ATCTCCATCCGGGTTGT -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation