Incidental Mutation 'R8851:Plekhf1'
ID 675003
Institutional Source Beutler Lab
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 # R8851 (G1)
Quality Score 225.009
Status Not validated
Chromosome 7
Chromosomal Location 37920078-37927418 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 37921466 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 34 (R34H)
Ref Sequence ENSEMBL: ENSMUSP00000096113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098513]
AlphaFold Q3TB82
Predicted Effect probably damaging
Transcript: ENSMUST00000098513
AA Change: R34H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000096113
Gene: ENSMUSG00000074170
AA Change: R34H

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr1 T A 1: 173,159,683 (GRCm39) I279F probably benign Het
Adamts7 A G 9: 90,075,163 (GRCm39) N965S probably benign Het
Adgrl3 A G 5: 81,613,119 (GRCm39) Y184C probably damaging Het
Ankar T C 1: 72,691,535 (GRCm39) Y1142C probably damaging Het
Apoa4 A G 9: 46,153,906 (GRCm39) K169R probably benign Het
Cd22 T A 7: 30,577,084 (GRCm39) K74N probably benign Het
Defa39 T A 8: 22,193,555 (GRCm39) I22F possibly damaging Het
Dgcr2 G A 16: 17,690,507 (GRCm39) T41I possibly damaging Het
Dicer1 A G 12: 104,690,300 (GRCm39) V245A possibly damaging Het
Dop1b T A 16: 93,559,398 (GRCm39) S715T probably benign Het
Epb41l1 A T 2: 156,364,431 (GRCm39) H980L probably benign Het
Erc2 A T 14: 28,039,216 (GRCm39) E973V probably null Het
Fam124b T A 1: 80,190,882 (GRCm39) Q167L probably damaging Het
Frmpd2 A G 14: 33,217,643 (GRCm39) E46G probably damaging Het
Gabrb2 G A 11: 42,312,186 (GRCm39) V4I probably benign Het
Gbf1 T A 19: 46,256,922 (GRCm39) N841K probably damaging Het
Gnpat A G 8: 125,601,004 (GRCm39) H161R probably damaging Het
Gpd2 A T 2: 57,197,062 (GRCm39) M206L possibly damaging Het
Grid2ip T C 5: 143,348,352 (GRCm39) F148L possibly damaging Het
Hemk1 A G 9: 107,213,412 (GRCm39) V128A probably benign Het
Ism1 G T 2: 139,591,465 (GRCm39) S273I probably damaging Het
Kcnab3 G T 11: 69,218,990 (GRCm39) probably null Het
Kdm6b A G 11: 69,291,993 (GRCm39) Y1430H unknown Het
Lama2 A G 10: 27,242,119 (GRCm39) V279A possibly damaging Het
Lmf1 G A 17: 25,804,680 (GRCm39) W119* probably null Het
Lrrc42 A G 4: 107,096,375 (GRCm39) V276A probably benign Het
Magi2 T C 5: 20,270,618 (GRCm39) F163L probably damaging Het
Map2k2 A G 10: 80,955,097 (GRCm39) K196R probably damaging Het
Mfsd11 C A 11: 116,752,479 (GRCm39) D209E probably benign Het
Muc1 C A 3: 89,138,425 (GRCm39) F422L probably benign Het
Muc13 A G 16: 33,631,273 (GRCm39) H391R probably benign Het
Mxi1 G A 19: 53,360,126 (GRCm39) G283S probably damaging Het
Nfatc2ip T C 7: 125,986,617 (GRCm39) Q346R probably damaging Het
Or8g2b A G 9: 39,751,600 (GRCm39) Y290C probably damaging Het
Otol1 T A 3: 69,935,299 (GRCm39) D430E probably damaging Het
Pcdh1 T C 18: 38,325,155 (GRCm39) E929G probably damaging Het
Pip4p2 T C 4: 14,912,491 (GRCm39) M200T possibly damaging Het
Plekhm2 A T 4: 141,358,639 (GRCm39) V622E probably benign Het
Pomt2 G A 12: 87,184,838 (GRCm39) T196I probably damaging Het
Ppp1r12c C T 7: 4,487,703 (GRCm39) G436D probably damaging Het
Prss50 A G 9: 110,687,081 (GRCm39) probably benign Het
Slc29a1 A G 17: 45,900,402 (GRCm39) I176T probably damaging Het
Slc5a9 A T 4: 111,755,790 (GRCm39) V36E probably damaging Het
Slc7a1 A C 5: 148,285,093 (GRCm39) S133R probably damaging Het
Sox17 A G 1: 4,562,073 (GRCm39) Y376H probably benign Het
Spata4 T C 8: 55,062,935 (GRCm39) I280T probably benign Het
Svop T A 5: 114,192,557 (GRCm39) I187F probably damaging Het
Tas2r103 T A 6: 133,013,896 (GRCm39) I57F Het
Tead3 A G 17: 28,551,704 (GRCm39) V463A probably damaging Het
Tenm4 G C 7: 96,501,710 (GRCm39) G1305R probably damaging Het
Top2a A T 11: 98,900,677 (GRCm39) F594L probably damaging Het
Trim23 A G 13: 104,334,573 (GRCm39) T419A possibly damaging Het
Ttn T C 2: 76,629,237 (GRCm39) E12621G probably damaging Het
Ttyh2 A G 11: 114,593,090 (GRCm39) I254V probably benign Het
Vmn2r58 T C 7: 41,487,219 (GRCm39) M559V probably benign Het
Wwp1 A T 4: 19,643,437 (GRCm39) H358Q probably null Het
Zcwpw1 A C 5: 137,820,626 (GRCm39) D597A probably damaging Het
Zfp318 A T 17: 46,710,761 (GRCm39) Y828F probably damaging Het
Zfp608 T A 18: 55,032,194 (GRCm39) N582I possibly damaging Het
Other mutations in Plekhf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01373:Plekhf1 APN 7 37,921,221 (GRCm39) missense probably benign
IGL01997:Plekhf1 APN 7 37,920,752 (GRCm39) missense probably damaging 0.97
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
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
Predicted Primers PCR Primer
(F):5'- CCACAAAGGACTTCTTGGCTG -3'
(R):5'- ATGGCTCTGACTTCATAGGC -3'

Sequencing Primer
(F):5'- CACAAAGGACTTCTTGGCTGTCTTG -3'
(R):5'- CTCTGACTTCATAGGCAAAGCTG -3'
Posted On 2021-07-15