Incidental Mutation 'IGL01288:Gde1'
ID 72807
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gde1
Ensembl Gene ENSMUSG00000033917
Gene Name glycerophosphodiester phosphodiesterase 1
Synonyms 1200003M13Rik, MIR16
Accession Numbers
Essential gene? Probably non essential (E-score: 0.174) question?
Stock # IGL01288
Quality Score
Status
Chromosome 7
Chromosomal Location 118287781-118304961 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 118290863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 154 (V154D)
Ref Sequence ENSEMBL: ENSMUSP00000122015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038791] [ENSMUST00000132509] [ENSMUST00000207323] [ENSMUST00000208040]
AlphaFold Q9JL56
Predicted Effect possibly damaging
Transcript: ENSMUST00000038791
AA Change: V264D

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046371
Gene: ENSMUSG00000033917
AA Change: V264D

DomainStartEndE-ValueType
low complexity region 17 24 N/A INTRINSIC
Pfam:GDPD 70 325 1.1e-35 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000132509
AA Change: V154D

PolyPhen 2 Score 0.632 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000122015
Gene: ENSMUSG00000033917
AA Change: V154D

DomainStartEndE-ValueType
Pfam:GDPD 1 135 1.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207323
Predicted Effect probably benign
Transcript: ENSMUST00000208040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208632
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele lack glycero-phospho-N-acyl ethanolamine (GP-NAE) phosphodiesterase activity in the brain. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsf3 G T 8: 123,507,381 (GRCm39) probably benign Het
Acsl3 G T 1: 78,677,476 (GRCm39) W490L possibly damaging Het
Ahnak A G 19: 8,979,858 (GRCm39) I381V possibly damaging Het
Aox1 A G 1: 58,333,566 (GRCm39) Y261C probably damaging Het
Ap3m2 T C 8: 23,293,931 (GRCm39) T40A probably benign Het
Arfgef1 C T 1: 10,283,436 (GRCm39) A158T possibly damaging Het
Atp1a4 T C 1: 172,085,474 (GRCm39) E43G possibly damaging Het
Cog5 C T 12: 31,936,205 (GRCm39) T584I probably benign Het
Cpa1 G A 6: 30,640,582 (GRCm39) V75M probably damaging Het
Cul7 A G 17: 46,968,733 (GRCm39) probably benign Het
Dennd2b A G 7: 109,139,029 (GRCm39) I668T probably damaging Het
Dop1b T C 16: 93,536,181 (GRCm39) I93T possibly damaging Het
Dyrk2 T C 10: 118,696,604 (GRCm39) Y218C probably damaging Het
Efr3b T C 12: 4,032,865 (GRCm39) Y164C probably damaging Het
Etos1 C A 7: 130,373,935 (GRCm39) probably benign Het
Fam13a A G 6: 58,933,712 (GRCm39) Y293H probably damaging Het
Glyat A G 19: 12,627,719 (GRCm39) T105A possibly damaging Het
Il36b A T 2: 24,049,925 (GRCm39) I179L probably benign Het
Kif21b C T 1: 136,099,922 (GRCm39) T1492M probably benign Het
Kmt2d G T 15: 98,762,925 (GRCm39) P282T probably damaging Het
Lgi4 A G 7: 30,768,468 (GRCm39) E489G probably benign Het
Lipn A C 19: 34,056,435 (GRCm39) E260D probably benign Het
Mdn1 A G 4: 32,730,864 (GRCm39) D2911G probably benign Het
Nab2 C T 10: 127,500,978 (GRCm39) R38Q probably damaging Het
Or1e35 A T 11: 73,798,139 (GRCm39) Y60N probably damaging Het
Or4c1 A T 2: 89,133,816 (GRCm39) V40E possibly damaging Het
Or4p22 T A 2: 88,317,592 (GRCm39) I172K probably damaging Het
Or52i2 A G 7: 102,319,858 (GRCm39) T244A probably damaging Het
Or5t16 C A 2: 86,818,598 (GRCm39) M307I probably benign Het
Or6f2 T C 7: 139,756,528 (GRCm39) L165P probably damaging Het
Osbpl6 T C 2: 76,395,167 (GRCm39) S337P probably damaging Het
Phf8 T C X: 150,330,921 (GRCm39) probably null Het
Pik3c2b C T 1: 133,022,543 (GRCm39) H1162Y probably damaging Het
Plek2 T C 12: 78,941,727 (GRCm39) D134G possibly damaging Het
Rnf139 G A 15: 58,771,028 (GRCm39) R351H probably damaging Het
Shld2 A T 14: 33,981,600 (GRCm39) Y513N probably benign Het
Skint5 T C 4: 113,381,332 (GRCm39) probably benign Het
Slc12a9 C T 5: 137,329,200 (GRCm39) probably null Het
Stradb C A 1: 59,031,460 (GRCm39) H216N possibly damaging Het
Tex15 C T 8: 34,061,412 (GRCm39) H281Y probably benign Het
Tg G T 15: 66,608,125 (GRCm39) V237L possibly damaging Het
Tns1 T A 1: 73,992,969 (GRCm39) T570S probably damaging Het
Tpm1 C T 9: 66,943,337 (GRCm39) R105H probably damaging Het
Wdfy3 G T 5: 102,049,857 (GRCm39) probably null Het
Zc3h12c A G 9: 52,028,951 (GRCm39) probably benign Het
Zmynd8 T A 2: 165,654,734 (GRCm39) S584C probably damaging Het
Other mutations in Gde1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Gde1 APN 7 118,297,925 (GRCm39) missense probably damaging 1.00
IGL01370:Gde1 APN 7 118,288,383 (GRCm39) unclassified probably benign
IGL01677:Gde1 APN 7 118,293,710 (GRCm39) splice site probably benign
IGL02701:Gde1 APN 7 118,297,860 (GRCm39) missense probably damaging 1.00
R0130:Gde1 UTSW 7 118,294,283 (GRCm39) missense probably benign 0.24
R1191:Gde1 UTSW 7 118,304,664 (GRCm39) missense probably damaging 1.00
R1478:Gde1 UTSW 7 118,291,007 (GRCm39) missense probably benign 0.00
R1836:Gde1 UTSW 7 118,294,357 (GRCm39) missense possibly damaging 0.66
R2357:Gde1 UTSW 7 118,290,814 (GRCm39) missense probably benign 0.11
R4373:Gde1 UTSW 7 118,297,781 (GRCm39) missense possibly damaging 0.91
R4658:Gde1 UTSW 7 118,293,751 (GRCm39) missense probably benign
R5364:Gde1 UTSW 7 118,297,874 (GRCm39) missense probably benign 0.00
R5367:Gde1 UTSW 7 118,304,629 (GRCm39) missense probably damaging 1.00
R6255:Gde1 UTSW 7 118,291,004 (GRCm39) missense probably null 0.00
R7604:Gde1 UTSW 7 118,304,759 (GRCm39) missense possibly damaging 0.95
R7981:Gde1 UTSW 7 118,288,264 (GRCm39) missense probably damaging 1.00
R8935:Gde1 UTSW 7 118,297,914 (GRCm39) missense possibly damaging 0.70
R9100:Gde1 UTSW 7 118,294,305 (GRCm39) missense probably benign 0.00
Posted On 2013-10-07