Incidental Mutation 'IGL01338:Gpd1'
ID74715
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpd1
Ensembl Gene ENSMUSG00000023019
Gene Nameglycerol-3-phosphate dehydrogenase 1 (soluble)
SynonymsGdc1, Gdc-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01338
Quality Score
Status
Chromosome15
Chromosomal Location99717515-99725005 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 99718175 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 22 (V22E)
Ref Sequence ENSEMBL: ENSMUSP00000125164 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023759] [ENSMUST00000023760] [ENSMUST00000162194]
Predicted Effect probably benign
Transcript: ENSMUST00000023759
SMART Domains Protein: ENSMUSP00000023759
Gene: ENSMUSG00000023018

DomainStartEndE-ValueType
low complexity region 9 38 N/A INTRINSIC
low complexity region 103 117 N/A INTRINSIC
Blast:KISc 124 271 2e-43 BLAST
SWIB 291 370 1.97e-35 SMART
Blast:MYSc 452 498 2e-17 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000023760
AA Change: V22E

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000023760
Gene: ENSMUSG00000023019
AA Change: V22E

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000162194
AA Change: V22E

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000125164
Gene: ENSMUSG00000023019
AA Change: V22E

DomainStartEndE-ValueType
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110004E09Rik T C 16: 90,926,048 N266S possibly damaging Het
Adam23 A G 1: 63,551,855 T494A possibly damaging Het
Adamts16 C T 13: 70,836,115 C143Y probably damaging Het
Cacna1i A G 15: 80,348,380 I195V probably damaging Het
Casp7 T C 19: 56,404,464 S17P probably benign Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpvl T A 6: 53,974,655 S48C possibly damaging Het
Cyp2b19 G T 7: 26,759,417 M138I probably benign Het
Dennd5a T C 7: 109,919,404 Y510C possibly damaging Het
Derl2 A G 11: 71,010,355 F229S possibly damaging Het
Dlec1 A G 9: 119,120,911 E452G probably damaging Het
Dsc2 T C 18: 20,047,157 K180E probably benign Het
Dus1l G A 11: 120,793,092 R177C possibly damaging Het
Egfr A G 11: 16,863,020 I167V probably damaging Het
Fam219b A T 9: 57,538,022 probably null Het
Fn1 T C 1: 71,626,210 E916G probably damaging Het
Gm2058 C T 7: 39,589,156 noncoding transcript Het
Hsf2 T C 10: 57,501,379 F124L probably damaging Het
I0C0044D17Rik A G 4: 98,820,099 probably benign Het
Igfbp3 A T 11: 7,208,478 F262I possibly damaging Het
Klhl18 A G 9: 110,455,433 Y62H probably damaging Het
Lama2 C T 10: 27,188,272 E1238K probably benign Het
Man1b1 A G 2: 25,338,227 K170E probably benign Het
Mcrs1 A T 15: 99,249,501 I39N probably damaging Het
Mug2 T C 6: 122,049,628 probably benign Het
Neu3 C A 7: 99,813,422 G365W probably damaging Het
Nipal3 A C 4: 135,471,883 probably null Het
Nrxn3 A G 12: 89,255,034 I528V possibly damaging Het
Olfr122 A T 17: 37,771,839 H71L possibly damaging Het
Osbpl8 A G 10: 111,267,747 K204R probably damaging Het
Pax8 A G 2: 24,435,919 S318P possibly damaging Het
Pcdh18 T A 3: 49,756,141 N242Y probably damaging Het
Pkd1l2 T A 8: 117,059,520 K649* probably null Het
Ppm1n A T 7: 19,279,254 D257E probably benign Het
Pxdn A G 12: 30,002,797 E811G probably damaging Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rreb1 T C 13: 37,931,034 C790R probably benign Het
Rtkn2 G T 10: 68,025,519 C258F possibly damaging Het
Scn11a G A 9: 119,784,161 probably benign Het
Snx8 G A 5: 140,358,096 R96C probably damaging Het
Syne2 A T 12: 76,060,226 T5649S possibly damaging Het
Tm2d3 T A 7: 65,695,222 C82* probably null Het
Tnpo2 T C 8: 85,040,526 L55P probably damaging Het
Tsc22d2 T C 3: 58,417,415 probably benign Het
Ttll3 T G 6: 113,394,729 V19G probably damaging Het
Ube2r2 A G 4: 41,174,119 I86V probably benign Het
Vps13d G A 4: 145,088,322 T3153I probably damaging Het
Wwp1 A G 4: 19,627,636 I753T probably damaging Het
Other mutations in Gpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00164:Gpd1 APN 15 99720651 missense probably benign 0.01
IGL01947:Gpd1 APN 15 99720231 missense possibly damaging 0.64
R0366:Gpd1 UTSW 15 99719270 missense probably damaging 1.00
R0551:Gpd1 UTSW 15 99720629 missense possibly damaging 0.95
R1789:Gpd1 UTSW 15 99723202 missense probably damaging 1.00
R2429:Gpd1 UTSW 15 99720607 missense probably benign 0.01
R4130:Gpd1 UTSW 15 99719277 splice site probably null
R5218:Gpd1 UTSW 15 99720130 missense probably damaging 1.00
R5348:Gpd1 UTSW 15 99722140 missense possibly damaging 0.60
R5636:Gpd1 UTSW 15 99722058 missense probably benign
R6228:Gpd1 UTSW 15 99723265 missense possibly damaging 0.80
R7196:Gpd1 UTSW 15 99722055 missense probably benign 0.10
R7479:Gpd1 UTSW 15 99720103 missense probably benign 0.04
R7508:Gpd1 UTSW 15 99722086 missense probably damaging 1.00
R7509:Gpd1 UTSW 15 99722086 missense probably damaging 1.00
Posted On2013-10-07