Incidental Mutation 'IGL02701:Gde1'
ID 304130
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gde1
Ensembl Gene ENSMUSG00000033917
Gene Name glycerophosphodiester phosphodiesterase 1
Synonyms 1200003M13Rik, MIR16
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.362) question?
Stock # IGL02701
Quality Score
Status
Chromosome 7
Chromosomal Location 118688545-118705778 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 118698637 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 9 (T9S)
Ref Sequence ENSEMBL: ENSMUSP00000122015 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038791] [ENSMUST00000132509] [ENSMUST00000207323] [ENSMUST00000208040]
AlphaFold Q9JL56
Predicted Effect probably damaging
Transcript: ENSMUST00000038791
AA Change: T119S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046371
Gene: ENSMUSG00000033917
AA Change: T119S

DomainStartEndE-ValueType
low complexity region 17 24 N/A INTRINSIC
Pfam:GDPD 70 325 1.1e-35 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132509
AA Change: T9S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000122015
Gene: ENSMUSG00000033917
AA Change: T9S

DomainStartEndE-ValueType
Pfam:GDPD 1 135 1.7e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000207323
Predicted Effect probably benign
Transcript: ENSMUST00000208040
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik A G 5: 5,466,623 probably null Het
4833423E24Rik A G 2: 85,484,169 L480P probably damaging Het
Arhgap21 A G 2: 20,892,091 C125R probably damaging Het
Blmh A G 11: 76,971,910 D383G probably benign Het
Brca1 T C 11: 101,525,235 E691G probably damaging Het
Chrm3 G A 13: 9,878,464 R179* probably null Het
Cnrip1 A G 11: 17,078,415 T116A probably benign Het
Csmd2 T C 4: 128,496,141 V2223A probably benign Het
Dalrd3 T A 9: 108,572,284 V143D possibly damaging Het
Ddx60 A T 8: 61,979,341 I886L probably damaging Het
Dennd4a T C 9: 64,897,353 F1325L possibly damaging Het
Dnmt3l A T 10: 78,055,022 T253S probably benign Het
Ggcx T A 6: 72,418,472 probably benign Het
Gm813 G A 16: 58,615,807 S51L probably benign Het
Hspg2 C T 4: 137,557,174 A3481V probably damaging Het
Igf1r T C 7: 68,201,249 Y931H possibly damaging Het
Ighv12-3 A C 12: 114,366,801 S25A probably damaging Het
Itga5 A C 15: 103,347,766 C920G probably damaging Het
Kmt5b A G 19: 3,796,681 D118G probably benign Het
Lrp1b T G 2: 41,246,017 N1647T possibly damaging Het
Lrrc71 T C 3: 87,741,772 E363G probably benign Het
Mapk1 A G 16: 17,015,906 Y41C probably benign Het
Mib1 T C 18: 10,747,357 V178A probably damaging Het
Olfr1022 A G 2: 85,869,458 I289V probably benign Het
Olfr159 A G 4: 43,770,366 I215T probably benign Het
Olfr472 A T 7: 107,903,442 T242S probably benign Het
Plb1 T C 5: 32,364,197 V1464A unknown Het
Plekhg5 T C 4: 152,103,022 S82P probably damaging Het
Plxna4 T C 6: 32,517,559 T41A probably benign Het
Ppip5k1 A C 2: 121,316,649 probably null Het
Rpl14 T C 9: 120,573,573 probably benign Het
Slc44a2 T C 9: 21,347,951 F554L probably benign Het
Slco1b2 T A 6: 141,685,545 V635E probably benign Het
Sv2a T A 3: 96,187,131 C261S probably damaging Het
Thbs2 T C 17: 14,683,361 I353V probably benign Het
Tspan4 G A 7: 141,492,028 V205M probably damaging Het
Vezf1 A T 11: 88,076,221 R93* probably null Het
Wwox T A 8: 114,706,368 V258D probably damaging Het
Zmynd12 G T 4: 119,444,755 probably benign Het
Other mutations in Gde1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00736:Gde1 APN 7 118698702 missense probably damaging 1.00
IGL01288:Gde1 APN 7 118691640 missense possibly damaging 0.63
IGL01370:Gde1 APN 7 118689160 unclassified probably benign
IGL01677:Gde1 APN 7 118694487 splice site probably benign
R0130:Gde1 UTSW 7 118695060 missense probably benign 0.24
R1191:Gde1 UTSW 7 118705441 missense probably damaging 1.00
R1478:Gde1 UTSW 7 118691784 missense probably benign 0.00
R1836:Gde1 UTSW 7 118695134 missense possibly damaging 0.66
R2357:Gde1 UTSW 7 118691591 missense probably benign 0.11
R4373:Gde1 UTSW 7 118698558 missense possibly damaging 0.91
R4658:Gde1 UTSW 7 118694528 missense probably benign
R5364:Gde1 UTSW 7 118698651 missense probably benign 0.00
R5367:Gde1 UTSW 7 118705406 missense probably damaging 1.00
R6255:Gde1 UTSW 7 118691781 missense probably null 0.00
R7604:Gde1 UTSW 7 118705536 missense possibly damaging 0.95
R7981:Gde1 UTSW 7 118689041 missense probably damaging 1.00
R8935:Gde1 UTSW 7 118698691 missense possibly damaging 0.70
R9100:Gde1 UTSW 7 118695082 missense probably benign 0.00
Posted On 2015-04-16