Incidental Mutation 'R8044:Gpd1'
| ID |
618684 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gpd1
|
| Ensembl Gene |
ENSMUSG00000023019 |
| Gene Name |
glycerol-3-phosphate dehydrogenase 1 (soluble) |
| Synonyms |
Gdc1, Gdc-1 |
| MMRRC Submission |
067481-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8044 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
99615468-99622895 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99621083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 322
(F322S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000023760
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023760]
[ENSMUST00000023761]
[ENSMUST00000162194]
|
| AlphaFold |
P13707 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000023760
AA Change: F322S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000023760
Gene: ENSMUSG00000023019
AA Change: F322S
| 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 |
probably damaging
Transcript: ENSMUST00000162194
AA Change: F299S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125164
Gene: ENSMUSG00000023019
AA Change: F299S
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (36/36) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524J17Rik |
T |
C |
8: 86,138,747 (GRCm39) |
E114G |
possibly damaging |
Het |
| Abcc4 |
ACCAGCCC |
ACC |
14: 118,852,682 (GRCm39) |
|
probably null |
Het |
| Adgrv1 |
A |
T |
13: 81,588,344 (GRCm39) |
V4414E |
possibly damaging |
Het |
| Asb7 |
T |
C |
7: 66,309,511 (GRCm39) |
N235S |
probably benign |
Het |
| Atrn |
A |
T |
2: 130,777,449 (GRCm39) |
N166I |
probably damaging |
Het |
| Cd300ld2 |
C |
T |
11: 114,904,545 (GRCm39) |
W107* |
probably null |
Het |
| Chl1 |
A |
T |
6: 103,683,593 (GRCm39) |
E806D |
probably damaging |
Het |
| Dnajb12 |
A |
G |
10: 59,732,172 (GRCm39) |
K337R |
possibly damaging |
Het |
| Dock5 |
T |
C |
14: 68,062,141 (GRCm39) |
D409G |
probably damaging |
Het |
| Efhb |
G |
A |
17: 53,706,143 (GRCm39) |
S798L |
probably benign |
Het |
| Gria4 |
A |
G |
9: 4,456,216 (GRCm39) |
Y695H |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,711,421 (GRCm39) |
F289S |
probably damaging |
Het |
| Jakmip1 |
A |
G |
5: 37,311,988 (GRCm39) |
E72G |
unknown |
Het |
| Mettl14 |
T |
C |
3: 123,163,309 (GRCm39) |
N366S |
probably benign |
Het |
| Ntrk2 |
A |
G |
13: 59,274,313 (GRCm39) |
T730A |
probably damaging |
Het |
| Or5b101 |
T |
C |
19: 13,004,829 (GRCm39) |
Y288C |
probably damaging |
Het |
| Otop3 |
T |
C |
11: 115,237,261 (GRCm39) |
L575P |
probably damaging |
Het |
| Piwil2 |
T |
C |
14: 70,628,887 (GRCm39) |
S710G |
possibly damaging |
Het |
| Pramel32 |
T |
G |
4: 88,548,212 (GRCm39) |
E64D |
possibly damaging |
Het |
| Ptpra |
A |
G |
2: 130,386,881 (GRCm39) |
K627E |
possibly damaging |
Het |
| Rab24 |
A |
G |
13: 55,469,345 (GRCm39) |
|
probably benign |
Het |
| Rbm20 |
C |
A |
19: 53,806,402 (GRCm39) |
A494D |
probably benign |
Het |
| Rpe65 |
T |
C |
3: 159,320,342 (GRCm39) |
F300L |
probably benign |
Het |
| St6gal1 |
G |
A |
16: 23,176,585 (GRCm39) |
A393T |
probably benign |
Het |
| Tert |
A |
G |
13: 73,783,568 (GRCm39) |
E590G |
probably damaging |
Het |
| Tlr4 |
C |
A |
4: 66,746,084 (GRCm39) |
L6I |
probably benign |
Het |
| Trim3 |
G |
A |
7: 105,262,465 (GRCm39) |
|
silent |
Het |
| Tubg1 |
G |
T |
11: 101,014,854 (GRCm39) |
A199S |
probably benign |
Het |
| Ube3a |
A |
T |
7: 58,926,320 (GRCm39) |
H387L |
possibly damaging |
Het |
| Ugt1a7c |
G |
A |
1: 88,023,278 (GRCm39) |
V146M |
probably damaging |
Het |
| Upf2 |
T |
C |
2: 6,034,249 (GRCm39) |
I974T |
unknown |
Het |
| Vmn1r38 |
A |
T |
6: 66,753,516 (GRCm39) |
I200N |
probably benign |
Het |
| Wnt5b |
A |
G |
6: 119,423,319 (GRCm39) |
V115A |
probably damaging |
Het |
| Xpo7 |
C |
A |
14: 70,922,366 (GRCm39) |
R574L |
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 |
|
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 |
|
R9747:Gpd1
|
UTSW |
15 |
99,618,004 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATCAGAGTGGATGGCAACCTG -3'
(R):5'- AGAGGACTCTGCTAGATGGG -3'
Sequencing Primer
(F):5'- CCAGGGCCAGGAATTCAGATTC -3'
(R):5'- ACTCTGCTAGATGGGGAGTCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation