Incidental Mutation 'IGL02585:Gdpd1'
ID299519
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdpd1
Ensembl Gene ENSMUSG00000061666
Gene Nameglycerophosphodiester phosphodiesterase domain containing 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #IGL02585
Quality Score
Status
Chromosome11
Chromosomal Location87033867-87074062 bp(-) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) A to T at 87073976 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000020804 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020801] [ENSMUST00000020804] [ENSMUST00000143280]
Predicted Effect probably benign
Transcript: ENSMUST00000020801
SMART Domains Protein: ENSMUSP00000020801
Gene: ENSMUSG00000020495

DomainStartEndE-ValueType
low complexity region 19 36 N/A INTRINSIC
Pfam:DUF2146 41 985 N/A PFAM
Predicted Effect probably null
Transcript: ENSMUST00000020804
AA Change: M1K

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020804
Gene: ENSMUSG00000061666
AA Change: M1K

DomainStartEndE-ValueType
transmembrane domain 5 24 N/A INTRINSIC
Pfam:GDPD 45 204 1.2e-26 PFAM
low complexity region 206 217 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134275
Predicted Effect probably benign
Transcript: ENSMUST00000143280
SMART Domains Protein: ENSMUSP00000119011
Gene: ENSMUSG00000020495

DomainStartEndE-ValueType
Pfam:DUF2146 1 269 2.9e-89 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 glycerophosphodiester phosphodiesterase family of enzymes that catalyze the hydrolysis of deacylated glycerophospholipids to glycerol phosphate and alcohol. The encoded protein is localized to the cytoplasm and concentrates near the perinuclear region. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aacs T C 5: 125,515,057 I603T possibly damaging Het
Aebp1 A G 11: 5,870,855 probably null Het
Atp5k T C 5: 108,434,070 Y16C probably damaging Het
BC003331 T A 1: 150,363,521 T384S probably damaging Het
Ccdc122 A T 14: 77,092,762 probably benign Het
Ccdc83 C T 7: 90,236,912 R213Q probably damaging Het
Cd38 G A 5: 43,910,302 V292M probably damaging Het
Eps8l1 T C 7: 4,469,213 S26P probably damaging Het
Inmt T A 6: 55,173,446 I69F probably damaging Het
Lrrc19 A T 4: 94,643,325 S17T probably benign Het
Macf1 G T 4: 123,472,284 Q1330K probably benign Het
Map4k3 C A 17: 80,653,919 probably benign Het
Musk A G 4: 58,347,849 T329A probably benign Het
Nhs T C X: 161,841,764 E863G probably damaging Het
Nts T A 10: 102,482,468 I125F probably benign Het
Phip G A 9: 82,903,188 L825F probably benign Het
Prr14l T C 5: 32,829,484 H889R possibly damaging Het
Rbm15b T C 9: 106,885,826 Q381R probably benign Het
Rtn1 C A 12: 72,308,155 probably null Het
Ryr3 A G 2: 112,712,303 L3167P probably damaging Het
Scfd1 G A 12: 51,387,107 E61K probably damaging Het
Sgce A G 6: 4,711,388 probably benign Het
Slc17a6 T A 7: 51,625,349 V52E probably benign Het
Slc38a11 T C 2: 65,335,791 D212G probably benign Het
Snx14 T C 9: 88,404,518 K356R possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssc4d A G 5: 135,970,338 S4P possibly damaging Het
Tas2r119 A G 15: 32,177,533 T82A probably benign Het
Ush2a A T 1: 188,728,333 Q2597L probably benign Het
Uspl1 C T 5: 149,214,062 Q691* probably null Het
Ythdf3 T C 3: 16,189,478 V17A probably benign Het
Zscan29 T A 2: 121,163,876 R543* probably null Het
Other mutations in Gdpd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02279:Gdpd1 APN 11 87073901 missense probably benign 0.00
PIT4687001:Gdpd1 UTSW 11 87059540 missense probably damaging 1.00
R0947:Gdpd1 UTSW 11 87037881 missense probably benign
R1454:Gdpd1 UTSW 11 87059509 missense possibly damaging 0.95
R2086:Gdpd1 UTSW 11 87035268 missense probably benign
R2183:Gdpd1 UTSW 11 87035276 missense probably damaging 1.00
R4416:Gdpd1 UTSW 11 87035288 missense probably benign 0.44
R5517:Gdpd1 UTSW 11 87059506 missense probably damaging 1.00
R7038:Gdpd1 UTSW 11 87035292 missense probably damaging 1.00
R7898:Gdpd1 UTSW 11 87041813 missense probably damaging 0.98
Posted On2015-04-16