Incidental Mutation 'IGL01736:Gdpd3'
ID105709
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdpd3
Ensembl Gene ENSMUSG00000030703
Gene Nameglycerophosphodiester phosphodiesterase domain containing 3
Synonyms1110015E22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.090) question?
Stock #IGL01736
Quality Score
Status
Chromosome7
Chromosomal Location126766334-126775649 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 126766523 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 18 (L18P)
Ref Sequence ENSEMBL: ENSMUSP00000032944 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032944] [ENSMUST00000050201] [ENSMUST00000057669] [ENSMUST00000091328]
Predicted Effect probably damaging
Transcript: ENSMUST00000032944
AA Change: L18P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000032944
Gene: ENSMUSG00000030703
AA Change: L18P

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: ENSMUST00000145965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205468
Predicted Effect probably benign
Transcript: ENSMUST00000205657
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205660
Predicted Effect noncoding transcript
Transcript: ENSMUST00000205910
Predicted Effect probably benign
Transcript: ENSMUST00000206272
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000206858
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A G 5: 114,188,442 T290A possibly damaging Het
Apip G A 2: 103,087,141 V62M probably damaging Het
Appbp2 T C 11: 85,214,317 K141R possibly damaging Het
Arhgef18 T A 8: 3,451,624 probably benign Het
B3galt2 A G 1: 143,646,845 T240A probably benign Het
Bivm A T 1: 44,141,813 N385I probably damaging Het
Brd4 A T 17: 32,198,675 probably benign Het
Cage1 T C 13: 38,022,813 D352G possibly damaging Het
Ceacam10 A G 7: 24,781,110 Y102C probably damaging Het
Diaph3 T C 14: 86,918,846 D677G probably benign Het
Dis3l T C 9: 64,319,254 probably null Het
Dnah6 C T 6: 73,188,377 V582M probably benign Het
Fndc3b A G 3: 27,467,403 L541P probably damaging Het
Folh1 T C 7: 86,742,236 T384A possibly damaging Het
Grxcr2 T A 18: 41,998,982 K7N probably damaging Het
Gulo A G 14: 65,996,876 F246L probably benign Het
Inpp4b A T 8: 81,997,339 D500V probably benign Het
Ints4 C T 7: 97,526,642 L647F probably benign Het
Kif17 T A 4: 138,286,565 L264Q possibly damaging Het
Kif21a T C 15: 90,959,745 N1104S possibly damaging Het
Ly6e T G 15: 74,958,697 L132R probably benign Het
Mis18bp1 T A 12: 65,138,678 H905L probably damaging Het
Nr2f2 A G 7: 70,354,698 S269P probably damaging Het
Olfr1176 T A 2: 88,340,427 N287K probably damaging Het
Olfr1360 C A 13: 21,674,617 C109F probably benign Het
Olfr1394 G A 11: 49,160,527 C171Y probably damaging Het
Pde8b T C 13: 95,030,402 I757V probably damaging Het
Psg23 A T 7: 18,612,197 I191N possibly damaging Het
Slc12a4 A T 8: 105,945,843 probably null Het
Snph A T 2: 151,594,173 Y209* probably null Het
Tnfaip3 T C 10: 19,006,901 H256R probably damaging Het
Tnip3 T A 6: 65,596,123 probably benign Het
Ttc3 T A 16: 94,442,527 F1130Y probably damaging Het
Twnk T G 19: 45,010,188 V515G probably damaging Het
Usp24 T A 4: 106,423,461 I2324K probably benign Het
Vwa7 T C 17: 35,019,851 F305S probably damaging Het
Ythdc2 A T 18: 44,850,668 Q567L probably damaging Het
Zbtb11 T A 16: 55,998,160 I649K probably damaging Het
Zbtb49 T C 5: 38,200,860 Y683C probably damaging Het
Zfhx4 A T 3: 5,244,092 M793L possibly damaging Het
Zmym6 T G 4: 127,108,644 I556R probably damaging Het
Zswim8 C T 14: 20,714,712 P717S probably benign Het
Other mutations in Gdpd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00753:Gdpd3 APN 7 126767426 nonsense probably null
IGL01113:Gdpd3 APN 7 126767825 missense probably benign 0.01
IGL01433:Gdpd3 APN 7 126771184 missense possibly damaging 0.82
IGL01465:Gdpd3 APN 7 126768657 missense possibly damaging 0.63
PIT4431001:Gdpd3 UTSW 7 126766475 missense probably benign 0.05
R0118:Gdpd3 UTSW 7 126770993 missense probably damaging 1.00
R0311:Gdpd3 UTSW 7 126767189 missense possibly damaging 0.79
R2049:Gdpd3 UTSW 7 126768594 missense probably damaging 0.99
R4976:Gdpd3 UTSW 7 126767282 missense probably damaging 1.00
R6151:Gdpd3 UTSW 7 126775502 missense probably benign 0.00
R6170:Gdpd3 UTSW 7 126771164 missense probably benign 0.04
R6898:Gdpd3 UTSW 7 126771029 nonsense probably null
Posted On2014-01-21