Incidental Mutation 'IGL00595:Plekhf2'
ID 6715
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 # IGL00595
Quality Score
Status
Chromosome 4
Chromosomal Location 10988662-11007619 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10991022 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 107 (K107E)
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: K107E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000054745
Gene: ENSMUSG00000049969
AA Change: K107E

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: K107E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123520
Gene: ENSMUSG00000049969
AA Change: K107E

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: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G A 10: 28,849,954 (GRCm39) R161* probably null Het
Adam20 T A 8: 41,249,084 (GRCm39) F398Y probably benign Het
Ano1 T A 7: 144,192,250 (GRCm39) I374F probably damaging Het
Apol10a A T 15: 77,369,135 (GRCm39) N45Y probably null Het
Asnsd1 A G 1: 53,386,647 (GRCm39) S327P probably damaging Het
Ccdc83 T A 7: 89,893,252 (GRCm39) K168N probably damaging Het
Chmp1b2 A G X: 106,831,450 (GRCm39) S189P probably damaging Het
Dpysl4 G T 7: 138,676,092 (GRCm39) V274F probably damaging Het
Fxr2 T G 11: 69,540,018 (GRCm39) S292A probably benign Het
Gm15130 T A 2: 110,969,322 (GRCm39) D132V unknown Het
Gpr161 A G 1: 165,146,372 (GRCm39) H436R probably benign Het
Jaml C T 9: 45,012,287 (GRCm39) probably benign Het
Kcnc2 A T 10: 112,297,893 (GRCm39) S606C probably damaging Het
Kcnc2 G T 10: 112,297,892 (GRCm39) E605D probably benign Het
Kcnrg T C 14: 61,845,359 (GRCm39) I133T probably damaging Het
Kdm7a A G 6: 39,121,444 (GRCm39) I837T probably benign Het
Lactb2 A G 1: 13,700,350 (GRCm39) L227S probably benign Het
Lats1 T G 10: 7,578,069 (GRCm39) S398A probably benign Het
Llgl2 T A 11: 115,725,710 (GRCm39) D19E probably benign Het
Nup107 A T 10: 117,609,257 (GRCm39) C365* probably null Het
Nup107 T C 10: 117,609,273 (GRCm39) probably null Het
Rnf139 A T 15: 58,770,391 (GRCm39) I139F possibly damaging Het
Rsbn1 A G 3: 103,836,006 (GRCm39) N348S probably benign Het
Rttn A T 18: 88,992,464 (GRCm39) Q136H probably benign Het
Syne2 C T 12: 75,972,420 (GRCm39) T1052I possibly damaging Het
Tom1l1 A T 11: 90,565,566 (GRCm39) L101Q probably damaging Het
Tubal3 A G 13: 3,983,015 (GRCm39) N265S probably damaging Het
Zfp141 T C 7: 42,126,079 (GRCm39) N131S probably benign Het
Zfp944 T C 17: 22,558,186 (GRCm39) S354G probably benign Het
Zfp961 G A 8: 72,722,272 (GRCm39) A262T probably damaging Het
Other mutations in Plekhf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01755:Plekhf2 APN 4 10,991,308 (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 2012-04-20