Incidental Mutation 'IGL01870:Phlda3'
ID178689
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phlda3
Ensembl Gene ENSMUSG00000041801
Gene Namepleckstrin homology like domain, family A, member 3
SynonymsTDAG/lpl homolog 1, Tih1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01870
Quality Score
Status
Chromosome1
Chromosomal Location135766119-135769136 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 135766638 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 64 (S64G)
Ref Sequence ENSEMBL: ENSMUSP00000040614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038945]
Predicted Effect probably benign
Transcript: ENSMUST00000038945
AA Change: S64G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000040614
Gene: ENSMUSG00000041801
AA Change: S64G

DomainStartEndE-ValueType
PH 7 103 4.3e-4 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136445
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal embryonic and placental weight. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agtr1a A G 13: 30,381,327 D125G probably damaging Het
Arhgap31 T C 16: 38,618,242 K300E probably damaging Het
Cma2 C A 14: 55,973,737 S162Y probably benign Het
Cntn4 A G 6: 106,489,715 T193A possibly damaging Het
Col22a1 T A 15: 71,952,528 M556L probably benign Het
Dld A G 12: 31,335,467 S292P possibly damaging Het
Dnah6 A T 6: 73,032,569 D3746E probably benign Het
Eea1 A G 10: 95,973,986 T9A probably damaging Het
Fam102a T C 2: 32,566,282 S319P probably benign Het
Gbf1 A G 19: 46,285,669 K1714R probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm12794 T A 4: 101,940,690 L95H probably benign Het
H2-M1 A T 17: 36,670,063 M327K probably benign Het
Ifnz T A 4: 88,783,311 S176T possibly damaging Het
Irak4 T C 15: 94,547,870 Y10H probably benign Het
Irx5 T C 8: 92,359,777 F163L probably damaging Het
Jak3 C T 8: 71,680,790 P376S probably damaging Het
Lrrc25 T C 8: 70,617,787 S73P possibly damaging Het
Macf1 C T 4: 123,474,113 G2285D probably damaging Het
Muc4 A T 16: 32,753,196 T1025S probably benign Het
Mylk2 A G 2: 152,915,214 N303S probably benign Het
Olfr111 G A 17: 37,530,664 R229H probably benign Het
Pcnx T C 12: 81,975,893 V1512A probably benign Het
Pptc7 C A 5: 122,313,602 S40R probably damaging Het
Ptpn4 A C 1: 119,675,547 probably null Het
Slc10a1 T C 12: 80,960,528 M160V probably benign Het
Stac T C 9: 111,572,332 I349V probably benign Het
Synm A G 7: 67,736,118 S157P possibly damaging Het
Tbc1d9b T C 11: 50,162,088 L924P probably damaging Het
Tcaf2 C T 6: 42,624,477 V883I possibly damaging Het
Upp1 T C 11: 9,125,700 probably null Het
Whamm C T 7: 81,595,974 T726I probably damaging Het
Other mutations in Phlda3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0233:Phlda3 UTSW 1 135766821 missense probably damaging 0.96
R0233:Phlda3 UTSW 1 135766821 missense probably damaging 0.96
R4510:Phlda3 UTSW 1 135766662 missense probably damaging 1.00
R4511:Phlda3 UTSW 1 135766662 missense probably damaging 1.00
R4790:Phlda3 UTSW 1 135766819 missense possibly damaging 0.90
R6825:Phlda3 UTSW 1 135766824 makesense probably null
Posted On2014-05-07