Incidental Mutation 'IGL00927:Plekha8'
ID27628
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekha8
Ensembl Gene ENSMUSG00000005225
Gene Namepleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
SynonymsFAPP2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00927
Quality Score
Status
Chromosome6
Chromosomal Location54595111-54645839 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) C to A at 54629837 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 372 (Y372*)
Ref Sequence ENSEMBL: ENSMUSP00000112466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101385] [ENSMUST00000119706]
Predicted Effect probably null
Transcript: ENSMUST00000101385
AA Change: Y327*
SMART Domains Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225
AA Change: Y327*

DomainStartEndE-ValueType
Blast:PH 1 50 1e-27 BLAST
PDB:2KCJ|A 1 55 3e-24 PDB
SCOP:d1ki1b2 1 57 2e-4 SMART
Blast:PH 59 128 2e-35 BLAST
Pfam:GLTP 283 429 3.5e-45 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000119706
AA Change: Y372*
SMART Domains Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225
AA Change: Y372*

DomainStartEndE-ValueType
PH 1 95 1.3e-12 SMART
Blast:PH 106 173 2e-30 BLAST
Pfam:GLTP 330 471 5.6e-46 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310033P09Rik A G 11: 59,208,848 T92A probably damaging Het
Ankhd1 A G 18: 36,632,072 S1007G probably benign Het
Cabp4 A T 19: 4,139,407 S50R possibly damaging Het
Camp A T 9: 109,849,268 L56Q probably damaging Het
Cblb A G 16: 52,166,098 N568S probably benign Het
Ccr6 C A 17: 8,255,993 T10K probably benign Het
Chit1 T C 1: 134,145,254 F106S probably damaging Het
Cyb561d1 A G 3: 108,199,627 L34P probably damaging Het
Dcun1d1 A T 3: 35,920,965 probably benign Het
Deup1 A G 9: 15,610,671 probably benign Het
Erich1 A G 8: 14,033,518 F184S probably damaging Het
Fmnl3 A G 15: 99,337,628 probably null Het
Grk2 T C 19: 4,287,954 N508S probably benign Het
Herc4 A G 10: 63,273,537 I184V probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Kif3b G A 2: 153,316,461 A61T possibly damaging Het
Kmt2d G A 15: 98,845,009 probably benign Het
Lrrc7 C A 3: 158,161,090 V1005L possibly damaging Het
Lrrtm1 A T 6: 77,244,063 M168L probably benign Het
Ndc1 C T 4: 107,384,780 probably benign Het
Nphs1 A G 7: 30,460,739 probably benign Het
Olfr692 A T 7: 105,369,247 Y298F probably damaging Het
Pbld2 T C 10: 63,071,955 V200A probably benign Het
Pcdhb21 A G 18: 37,514,553 Y245C probably damaging Het
Pcm1 A G 8: 41,287,881 T1055A probably damaging Het
Plcl2 C T 17: 50,606,920 S319L probably benign Het
Ralb T A 1: 119,471,776 N184I probably benign Het
Robo3 C T 9: 37,427,754 probably null Het
Slc41a1 T A 1: 131,839,176 L144H probably damaging Het
Smg1 C T 7: 118,140,632 G3364D probably damaging Het
Theg A G 10: 79,576,599 S329P probably damaging Het
Ttc26 T C 6: 38,382,220 probably benign Het
Vmn1r123 T A 7: 21,162,291 V36D possibly damaging Het
Zbtb7c T C 18: 76,145,850 S460P possibly damaging Het
Zscan30 T C 18: 23,971,777 noncoding transcript Het
Other mutations in Plekha8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Plekha8 APN 6 54622276 missense probably benign 0.00
IGL02148:Plekha8 APN 6 54615286 missense probably damaging 1.00
IGL02959:Plekha8 APN 6 54615269 missense probably damaging 1.00
IGL02986:Plekha8 APN 6 54629866 missense probably damaging 1.00
IGL03214:Plekha8 APN 6 54635770 missense probably damaging 1.00
R0372:Plekha8 UTSW 6 54616758 critical splice donor site probably null
R0519:Plekha8 UTSW 6 54622107 splice site probably benign
R0606:Plekha8 UTSW 6 54629820 missense probably damaging 1.00
R1797:Plekha8 UTSW 6 54640974 missense probably damaging 1.00
R3015:Plekha8 UTSW 6 54622122 missense probably benign 0.01
R3508:Plekha8 UTSW 6 54613194 missense probably damaging 1.00
R3809:Plekha8 UTSW 6 54619349 missense probably benign 0.00
R4360:Plekha8 UTSW 6 54622186 missense probably benign
R4757:Plekha8 UTSW 6 54622228 missense probably benign
R4822:Plekha8 UTSW 6 54624561 missense probably damaging 1.00
R5721:Plekha8 UTSW 6 54613106 missense probably damaging 1.00
R6359:Plekha8 UTSW 6 54613119 missense probably damaging 0.98
R6756:Plekha8 UTSW 6 54624140 nonsense probably null
R6857:Plekha8 UTSW 6 54629935 missense probably damaging 1.00
R7319:Plekha8 UTSW 6 54624221 missense probably benign 0.06
R7420:Plekha8 UTSW 6 54613194 missense probably damaging 1.00
Posted On2013-04-17