Incidental Mutation 'IGL01465:Gdpd3'
ID 88081
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdpd3
Ensembl Gene ENSMUSG00000030703
Gene Name glycerophosphodiester phosphodiesterase domain containing 3
Synonyms 1110015E22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.059) question?
Stock # IGL01465
Quality Score
Status
Chromosome 7
Chromosomal Location 126365586-126374817 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 126367829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 221 (I221V)
Ref Sequence ENSEMBL: ENSMUSP00000032944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032944] [ENSMUST00000050201] [ENSMUST00000057669] [ENSMUST00000091328]
AlphaFold Q99LY2
Predicted Effect possibly damaging
Transcript: ENSMUST00000032944
AA Change: I221V

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703
AA Change: I221V

DomainStartEndE-ValueType
transmembrane domain 4 23 N/A INTRINSIC
Pfam:GDPD 44 202 1.1e-23 PFAM
low complexity region 208 216 N/A INTRINSIC
low complexity region 311 321 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000050201
SMART Domains Protein: ENSMUSP00000101969
Gene: ENSMUSG00000063065

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
S_TKc 43 331 3.3e-97 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000057669
SMART Domains Protein: ENSMUSP00000051619
Gene: ENSMUSG00000063065

DomainStartEndE-ValueType
low complexity region 2 32 N/A INTRINSIC
S_TKc 43 331 3.3e-97 SMART
Blast:S_TKc 335 372 1e-15 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000091328
SMART Domains Protein: ENSMUSP00000088880
Gene: ENSMUSG00000063065

DomainStartEndE-ValueType
Pfam:Pkinase_Tyr 1 213 2.5e-24 PFAM
Pfam:Pkinase 1 216 2.2e-58 PFAM
Pfam:APH 17 108 7.6e-7 PFAM
Blast:S_TKc 220 257 4e-16 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135649
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205468
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206858
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206350
Predicted Effect probably benign
Transcript: ENSMUST00000206272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205660
Predicted Effect probably benign
Transcript: ENSMUST00000205657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205910
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207004
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A G 6: 23,114,838 (GRCm39) probably null Het
Abracl A T 10: 17,887,399 (GRCm39) I76N probably damaging Het
Akap12 C T 10: 4,306,886 (GRCm39) T1232I probably damaging Het
Clcn6 A T 4: 148,105,908 (GRCm39) probably benign Het
Cpsf2 C A 12: 101,963,592 (GRCm39) D440E probably damaging Het
Csf2ra A G 19: 61,214,436 (GRCm39) V243A possibly damaging Het
Cyp4f18 T A 8: 72,756,288 (GRCm39) H96L probably benign Het
Dvl2 T A 11: 69,897,180 (GRCm39) I294N probably damaging Het
Fbn2 T A 18: 58,336,905 (GRCm39) N117Y probably null Het
Grk2 A T 19: 4,340,886 (GRCm39) C221S probably damaging Het
Idi1 T C 13: 8,940,415 (GRCm39) I199T probably benign Het
Klhl6 T C 16: 19,801,572 (GRCm39) E61G probably damaging Het
Lig1 T A 7: 13,030,317 (GRCm39) S431R probably benign Het
Lrg1 T C 17: 56,427,705 (GRCm39) E89G probably benign Het
Lrrk2 A G 15: 91,613,128 (GRCm39) K751E probably benign Het
Macf1 T A 4: 123,384,514 (GRCm39) T1128S probably benign Het
Nphs1 T C 7: 30,186,139 (GRCm39) *1243R probably null Het
Rere G A 4: 150,594,451 (GRCm39) V354I unknown Het
Safb A G 17: 56,909,974 (GRCm39) probably benign Het
Slc2a10 C A 2: 165,359,597 (GRCm39) A487D possibly damaging Het
Slc7a12 T A 3: 14,564,383 (GRCm39) S85R possibly damaging Het
Sorbs3 G A 14: 70,432,958 (GRCm39) probably benign Het
Ttn A G 2: 76,600,135 (GRCm39) M19013T probably damaging Het
Utp4 A G 8: 107,621,330 (GRCm39) T36A probably benign Het
Vmn2r111 A T 17: 22,767,718 (GRCm39) F593Y probably benign Het
Other mutations in Gdpd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Gdpd3 APN 7 126,366,598 (GRCm39) nonsense probably null
IGL01113:Gdpd3 APN 7 126,366,997 (GRCm39) missense probably benign 0.01
IGL01433:Gdpd3 APN 7 126,370,356 (GRCm39) missense possibly damaging 0.82
IGL01736:Gdpd3 APN 7 126,365,695 (GRCm39) missense probably damaging 0.99
PIT4431001:Gdpd3 UTSW 7 126,365,647 (GRCm39) missense probably benign 0.05
R0118:Gdpd3 UTSW 7 126,370,165 (GRCm39) missense probably damaging 1.00
R0311:Gdpd3 UTSW 7 126,366,361 (GRCm39) missense possibly damaging 0.79
R2049:Gdpd3 UTSW 7 126,367,766 (GRCm39) missense probably damaging 0.99
R4976:Gdpd3 UTSW 7 126,366,454 (GRCm39) missense probably damaging 1.00
R6151:Gdpd3 UTSW 7 126,374,674 (GRCm39) missense probably benign 0.00
R6170:Gdpd3 UTSW 7 126,370,336 (GRCm39) missense probably benign 0.04
R6898:Gdpd3 UTSW 7 126,370,201 (GRCm39) nonsense probably null
R8236:Gdpd3 UTSW 7 126,367,838 (GRCm39) missense probably benign 0.26
Posted On 2013-11-18