Incidental Mutation 'IGL03237:Plekhf1'
ID414107
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 #IGL03237
Quality Score
Status
Chromosome7
Chromosomal Location38216972-38228016 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 38221375 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 256 (N256K)
Ref Sequence ENSEMBL: ENSMUSP00000096113 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000098513]
Predicted Effect probably benign
Transcript: ENSMUST00000098513
AA Change: N256K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000096113
Gene: ENSMUSG00000074170
AA Change: N256K

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot12 A G 13: 91,781,269 Y405C probably benign Het
Adam19 A G 11: 46,137,556 K672R probably benign Het
Adamts7 C A 9: 90,188,664 P613T probably damaging Het
Adgrl1 G T 8: 83,929,683 probably null Het
Adrb1 A T 19: 56,723,368 N333Y probably damaging Het
AI314180 A T 4: 58,810,668 M1563K probably benign Het
Aqp7 C T 4: 41,034,884 V190M possibly damaging Het
Atg101 T C 15: 101,287,173 F59L probably damaging Het
Capn12 T C 7: 28,890,941 S638P probably damaging Het
Ccm2l T C 2: 153,066,002 probably benign Het
Cdc14a A T 3: 116,404,626 probably benign Het
Cdh7 A T 1: 110,138,307 K770N possibly damaging Het
Col23a1 A C 11: 51,567,919 E294D possibly damaging Het
Cped1 A T 6: 22,233,596 Y679F probably damaging Het
Ctu2 A G 8: 122,479,053 E180G probably benign Het
Cyp11b2 C T 15: 74,851,065 V495I probably benign Het
Efcab1 A G 16: 14,920,788 D161G probably damaging Het
Gabrg3 A T 7: 56,982,712 probably null Het
Hsd17b11 A G 5: 104,003,170 *233Q probably null Het
Klhl41 T C 2: 69,670,558 V121A possibly damaging Het
Kptn A T 7: 16,120,125 D56V probably damaging Het
L3mbtl4 T A 17: 68,777,861 I589N probably damaging Het
Lpl A T 8: 68,894,726 N177Y possibly damaging Het
Manba G A 3: 135,544,751 V380M probably damaging Het
Mecom A T 3: 29,956,499 probably benign Het
Mertk A G 2: 128,790,272 E707G probably damaging Het
Myo5a A T 9: 75,129,994 I160F probably damaging Het
Myo7a A T 7: 98,102,593 I81N probably damaging Het
Nelfcd G A 2: 174,426,832 A559T possibly damaging Het
Nipal1 C T 5: 72,666,807 R76C probably damaging Het
Noc3l C T 19: 38,814,681 probably null Het
Nt5e A G 9: 88,355,734 D239G probably damaging Het
Olr1 A C 6: 129,502,154 W34G probably damaging Het
Psen2 T C 1: 180,240,849 T80A possibly damaging Het
Psg27 A G 7: 18,560,492 I330T probably benign Het
Ranbp2 T C 10: 58,492,961 V2894A probably damaging Het
Sgcz A T 8: 37,563,178 D170E probably benign Het
Snrnp200 C T 2: 127,233,313 A1573V probably damaging Het
Steap3 C T 1: 120,243,790 G195D probably damaging Het
Tmem165 T A 5: 76,199,509 Y5* probably null Het
Tnpo1 C T 13: 98,863,840 E340K probably damaging Het
Vmn2r67 A T 7: 85,149,910 C530S probably damaging Het
Wdfy3 T A 5: 101,844,599 D3389V probably damaging Het
Zfp128 A C 7: 12,891,026 E440D probably benign Het
Other mutations in Plekhf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01373:Plekhf1 APN 7 38221797 missense probably benign
IGL01997:Plekhf1 APN 7 38221328 missense probably damaging 0.97
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 On2016-08-02