Incidental Mutation 'IGL01997:Plekhf1'
ID 182113
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekhf1
Ensembl Gene ENSMUSG00000074170
Gene Name pleckstrin homology domain containing, family F (with FYVE domain) member 1
Synonyms LAPF, 1810013P09Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01997
Quality Score
Status
Chromosome 7
Chromosomal Location 37920078-37927418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 37920752 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 272 (V272D)
Ref Sequence ENSEMBL: ENSMUSP00000096113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098513]
AlphaFold Q3TB82
Predicted Effect probably damaging
Transcript: ENSMUST00000098513
AA Change: V272D

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096113
Gene: ENSMUSG00000074170
AA Change: V272D

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahctf1 G A 1: 179,583,027 (GRCm39) T83I probably damaging Het
Aoah A T 13: 21,184,108 (GRCm39) M391L probably benign Het
Apc A G 18: 34,448,476 (GRCm39) T1757A probably benign Het
B4galt5 A G 2: 167,143,261 (GRCm39) Y388H probably benign Het
Cyp3a25 A T 5: 145,931,766 (GRCm39) M114K possibly damaging Het
Dcbld1 A G 10: 52,193,206 (GRCm39) E246G probably damaging Het
Fstl4 T A 11: 53,053,881 (GRCm39) Y404* probably null Het
Gnat3 G T 5: 18,204,721 (GRCm39) E125* probably null Het
Hspa5 C T 2: 34,662,327 (GRCm39) probably benign Het
Krt72 A G 15: 101,693,315 (GRCm39) S200P probably damaging Het
Mab21l3 G A 3: 101,725,955 (GRCm39) T347I probably damaging Het
Map2k7 A G 8: 4,293,442 (GRCm39) E104G probably benign Het
Map3k9 T C 12: 81,819,471 (GRCm39) D261G probably damaging Het
Mepe C T 5: 104,485,466 (GRCm39) P202L probably damaging Het
Mill1 G A 7: 17,989,814 (GRCm39) G32D probably damaging Het
Mmp20 T G 9: 7,639,261 (GRCm39) M143R probably benign Het
Mms19 A T 19: 41,944,970 (GRCm39) L302H probably damaging Het
Myh13 T A 11: 67,257,992 (GRCm39) I1728K probably benign Het
Nsun2 C T 13: 69,771,365 (GRCm39) P290L probably damaging Het
Nwd2 A T 5: 63,961,938 (GRCm39) R507S probably damaging Het
Os9 T A 10: 126,955,312 (GRCm39) H147L probably benign Het
Piezo1 T C 8: 123,215,070 (GRCm39) probably benign Het
Pnisr T C 4: 21,871,537 (GRCm39) I419T possibly damaging Het
Ppp1r3d G T 2: 178,055,447 (GRCm39) T185K possibly damaging Het
Ppp2r2a C T 14: 67,253,968 (GRCm39) S400N probably benign Het
Rpl21 T C 5: 146,772,418 (GRCm39) I96T probably benign Het
S1pr3 C T 13: 51,573,751 (GRCm39) R311W probably damaging Het
Senp5 T C 16: 31,782,288 (GRCm39) K736R probably damaging Het
Slfn9 T C 11: 82,878,503 (GRCm39) I209V possibly damaging Het
Traf3ip1 T A 1: 91,435,292 (GRCm39) probably null Het
Tyk2 A G 9: 21,021,790 (GRCm39) F879L probably damaging Het
Vmn2r53 T C 7: 12,316,373 (GRCm39) D482G possibly damaging Het
Vmn2r65 A G 7: 84,589,978 (GRCm39) F646S probably damaging Het
Vps13b T A 15: 35,709,370 (GRCm39) S1772R probably damaging Het
Vwde C T 6: 13,215,705 (GRCm39) C117Y probably damaging Het
Zfyve26 T C 12: 79,291,174 (GRCm39) I2144V probably benign Het
Other mutations in Plekhf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01373:Plekhf1 APN 7 37,921,221 (GRCm39) missense probably benign
IGL03237:Plekhf1 APN 7 37,920,799 (GRCm39) missense probably benign
R0671:Plekhf1 UTSW 7 37,920,826 (GRCm39) missense probably benign 0.00
R1026:Plekhf1 UTSW 7 37,921,065 (GRCm39) missense probably benign 0.10
R3085:Plekhf1 UTSW 7 37,921,001 (GRCm39) missense probably benign
R4764:Plekhf1 UTSW 7 37,921,022 (GRCm39) missense probably damaging 1.00
R5907:Plekhf1 UTSW 7 37,921,594 (GRCm39) splice site probably null
R6291:Plekhf1 UTSW 7 37,921,029 (GRCm39) missense possibly damaging 0.69
R6785:Plekhf1 UTSW 7 37,921,488 (GRCm39) nonsense probably null
R7356:Plekhf1 UTSW 7 37,921,545 (GRCm39) missense possibly damaging 0.67
R7601:Plekhf1 UTSW 7 37,921,304 (GRCm39) missense probably damaging 1.00
R8544:Plekhf1 UTSW 7 37,920,768 (GRCm39) missense probably damaging 1.00
R8716:Plekhf1 UTSW 7 37,921,322 (GRCm39) missense probably damaging 1.00
R8851:Plekhf1 UTSW 7 37,921,466 (GRCm39) missense probably damaging 1.00
R8925:Plekhf1 UTSW 7 37,920,998 (GRCm39) missense probably damaging 0.99
R8927:Plekhf1 UTSW 7 37,920,998 (GRCm39) missense probably damaging 0.99
R9377:Plekhf1 UTSW 7 37,921,203 (GRCm39) missense probably damaging 1.00
Posted On 2014-05-07