Incidental Mutation 'IGL01755:Plekhf2'
ID 153181
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhf2
Ensembl Gene ENSMUSG00000049969
Gene Name pleckstrin homology domain containing, family F (with FYVE domain) member 2
Synonyms ZFYVE18, 1110070J07Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.420) question?
Stock # IGL01755
Quality Score
Status
Chromosome 4
Chromosomal Location 10988662-11007619 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 10991308 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 11 (N11K)
Ref Sequence ENSEMBL: ENSMUSP00000123520 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000054776] [ENSMUST00000137891]
AlphaFold Q91WB4
Predicted Effect probably damaging
Transcript: ENSMUST00000054776
AA Change: N11K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054745
Gene: ENSMUSG00000049969
AA Change: N11K

DomainStartEndE-ValueType
PH 36 133 1.39e-12 SMART
FYVE 144 213 1.13e-27 SMART
low complexity region 237 249 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000137891
AA Change: N11K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123520
Gene: ENSMUSG00000049969
AA Change: N11K

DomainStartEndE-ValueType
PH 36 133 1.39e-12 SMART
FYVE 144 197 1.03e-12 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf6 A G 1: 170,616,180 (GRCm39) I520T possibly damaging Het
Azgp1 A T 5: 137,988,109 (GRCm39) K297M possibly damaging Het
Cyp2e1 A G 7: 140,354,469 (GRCm39) probably null Het
Dapk1 C A 13: 60,908,989 (GRCm39) L1201M probably damaging Het
Dapk1 T A 13: 60,908,990 (GRCm39) L1201Q possibly damaging Het
Insrr A T 3: 87,721,493 (GRCm39) D1133V probably damaging Het
Kcnc4 T C 3: 107,355,491 (GRCm39) N319S probably damaging Het
Kctd1 A G 18: 15,195,694 (GRCm39) C310R possibly damaging Het
Nefl A G 14: 68,323,526 (GRCm39) D384G probably damaging Het
Nfatc3 A G 8: 106,854,553 (GRCm39) N1029S probably benign Het
Nup107 T C 10: 117,610,398 (GRCm39) Y348C probably damaging Het
Or5b117 T C 19: 13,431,179 (GRCm39) K234R probably damaging Het
Or5w8 T A 2: 87,687,854 (GRCm39) C112S possibly damaging Het
Phf8-ps T A 17: 33,285,951 (GRCm39) N284Y probably damaging Het
Phldb2 T C 16: 45,645,945 (GRCm39) E212G probably damaging Het
Pirb A T 7: 3,720,169 (GRCm39) N401K probably benign Het
Plcg2 T C 8: 118,347,980 (GRCm39) F1183S possibly damaging Het
Slc7a11 A G 3: 50,378,516 (GRCm39) Y241H probably benign Het
Sltm T G 9: 70,491,204 (GRCm39) probably null Het
Taf4b A G 18: 15,031,042 (GRCm39) T809A probably benign Het
Taf4b C A 18: 15,031,043 (GRCm39) T809N probably benign Het
Tesk1 T C 4: 43,445,820 (GRCm39) probably null Het
Tspan8 C T 10: 115,671,203 (GRCm39) T120M probably damaging Het
Ttn T G 2: 76,551,727 (GRCm39) D31275A probably damaging Het
Vcl C A 14: 21,046,038 (GRCm39) Q334K probably damaging Het
Zfp94 G A 7: 24,010,906 (GRCm39) probably benign Het
Zkscan17 A G 11: 59,378,241 (GRCm39) F314S probably damaging Het
Other mutations in Plekhf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00595:Plekhf2 APN 4 10,991,022 (GRCm39) missense probably damaging 1.00
IGL03369:Plekhf2 APN 4 10,990,703 (GRCm39) missense probably benign 0.01
R0284:Plekhf2 UTSW 4 10,990,595 (GRCm39) unclassified probably benign
R0615:Plekhf2 UTSW 4 10,991,330 (GRCm39) missense probably benign 0.06
Posted On 2014-02-04