Incidental Mutation 'IGL01373:Plekhf1'
ID84083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhf1
Ensembl Gene ENSMUSG00000074170
Gene Namepleckstrin homology domain containing, family F (with FYVE domain) member 1
SynonymsLAPF, 1810013P09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01373
Quality Score
Status
Chromosome7
Chromosomal Location38216972-38228016 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 38221797 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 116 (T116A)
Ref Sequence ENSEMBL: ENSMUSP00000096113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098513]
Predicted Effect probably benign
Transcript: ENSMUST00000098513
AA Change: T116A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096113
Gene: ENSMUSG00000074170
AA Change: T116A

DomainStartEndE-ValueType
PH 36 133 9.05e-12 SMART
FYVE 144 213 1.52e-24 SMART
low complexity region 240 260 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 C T 7: 119,711,419 R510* probably null Het
Adamts12 A T 15: 11,310,730 E1024D probably benign Het
Aff2 T A X: 69,867,729 D1239E possibly damaging Het
Agps T C 2: 75,852,784 V151A probably benign Het
Cables1 A T 18: 11,888,764 R276S probably damaging Het
Cep72 A G 13: 74,059,459 S64P probably damaging Het
Cmah A T 13: 24,430,549 D159V probably damaging Het
Cox6a1 C A 5: 115,345,839 probably benign Het
Cpxm1 T C 2: 130,394,135 E369G probably damaging Het
Dnah6 A G 6: 73,074,748 L3021P probably benign Het
Esyt1 T C 10: 128,518,941 E530G possibly damaging Het
Fancd2 A G 6: 113,553,752 I449V probably benign Het
Fbxw24 C T 9: 109,623,633 G98D probably damaging Het
Folh1 T C 7: 86,746,142 I361V probably benign Het
Gm12666 A G 4: 92,191,625 V42A probably damaging Het
Gpr19 T A 6: 134,870,321 H41L possibly damaging Het
Kcnq4 A G 4: 120,717,032 V143A probably damaging Het
Lmcd1 A G 6: 112,310,625 I91V probably benign Het
Lpin3 G T 2: 160,903,729 D651Y probably damaging Het
Ms4a6b A T 19: 11,529,507 H220L possibly damaging Het
Mxd4 G A 5: 34,184,346 probably benign Het
Nxnl2 T C 13: 51,171,452 F44L probably damaging Het
Olfr698 T C 7: 106,752,446 probably benign Het
Olfr744 T A 14: 50,618,612 I130N probably damaging Het
Pcdhb20 A T 18: 37,506,568 R716W probably benign Het
Pcx T A 19: 4,620,235 probably null Het
Psmb2 G T 4: 126,687,092 R93L probably damaging Het
Pstpip2 T A 18: 77,835,216 L42* probably null Het
Ptpn22 A T 3: 103,886,204 D557V probably damaging Het
Rbbp5 G A 1: 132,492,601 V191I probably benign Het
Rgs1 T A 1: 144,245,378 D185V probably damaging Het
Selenoh A G 2: 84,670,594 probably benign Het
Slc6a5 C T 7: 49,917,733 P312S probably benign Het
Snapc1 T A 12: 73,964,680 M40K probably benign Het
Sptbn2 T G 19: 4,745,972 Y1726* probably null Het
Syne2 T C 12: 75,987,107 I3710T probably damaging Het
Tdrd9 G A 12: 112,040,434 V911M probably damaging Het
Tex9 A T 9: 72,480,754 D134E possibly damaging Het
Ttc41 G T 10: 86,775,957 C1063F possibly damaging Het
Usp38 C A 8: 80,990,018 A496S possibly damaging Het
Vmn2r13 T A 5: 109,156,702 Y621F probably damaging Het
Vmn2r67 T A 7: 85,136,626 M724L probably benign Het
Other mutations in Plekhf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01997:Plekhf1 APN 7 38221328 missense probably damaging 0.97
IGL03237:Plekhf1 APN 7 38221375 missense probably benign
R0671:Plekhf1 UTSW 7 38221402 missense probably benign 0.00
R1026:Plekhf1 UTSW 7 38221641 missense probably benign 0.10
R3085:Plekhf1 UTSW 7 38221577 missense probably benign
R4764:Plekhf1 UTSW 7 38221598 missense probably damaging 1.00
R5907:Plekhf1 UTSW 7 38222170 splice site probably null
R6291:Plekhf1 UTSW 7 38221605 missense possibly damaging 0.69
R6785:Plekhf1 UTSW 7 38222064 nonsense probably null
R7356:Plekhf1 UTSW 7 38222121 missense possibly damaging 0.67
R7601:Plekhf1 UTSW 7 38221880 missense probably damaging 1.00
Posted On2013-11-11