Incidental Mutation 'IGL01413:Plekha8'
ID 80132
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekha8
Ensembl Gene ENSMUSG00000005225
Gene Name pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8
Synonyms FAPP2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01413
Quality Score
Status
Chromosome 6
Chromosomal Location 54572096-54622824 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54599261 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 265 (T265I)
Ref Sequence ENSEMBL: ENSMUSP00000112466 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000101385] [ENSMUST00000119706]
AlphaFold Q80W71
Predicted Effect probably benign
Transcript: ENSMUST00000101385
AA Change: T220I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225
AA Change: T220I

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 benign
Transcript: ENSMUST00000119706
AA Change: T265I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225
AA Change: T265I

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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa2 A T 18: 74,939,015 (GRCm39) probably benign Het
Adgrl1 T A 8: 84,656,486 (GRCm39) I268N probably damaging Het
Asic1 T A 15: 99,569,998 (GRCm39) N106K probably damaging Het
Ass1 A G 2: 31,366,934 (GRCm39) Y11C probably damaging Het
Cd44 T C 2: 102,644,632 (GRCm39) E448G probably damaging Het
Cdca2 A G 14: 67,915,343 (GRCm39) S639P probably damaging Het
Cfap221 T A 1: 119,912,801 (GRCm39) H91L possibly damaging Het
Cmtr1 T C 17: 29,916,956 (GRCm39) S618P probably benign Het
Cnga4 A T 7: 105,054,169 (GRCm39) M46L probably benign Het
Col4a4 C T 1: 82,448,969 (GRCm39) G1207E unknown Het
Cracdl G A 1: 37,651,387 (GRCm39) A1160V possibly damaging Het
Cthrc1 T A 15: 38,943,894 (GRCm39) L58Q possibly damaging Het
Cyb561a3 T A 19: 10,562,610 (GRCm39) H83Q probably damaging Het
Dlgap1 C A 17: 70,823,069 (GRCm39) A18E probably benign Het
Dnah2 G A 11: 69,323,790 (GRCm39) L3707F probably damaging Het
Dnai7 A T 6: 145,120,812 (GRCm39) M669K probably damaging Het
Duox1 A G 2: 122,151,191 (GRCm39) N289D probably benign Het
Fbrsl1 T A 5: 110,526,114 (GRCm39) E443D probably damaging Het
Fgfr1 T A 8: 26,052,239 (GRCm39) C288* probably null Het
Gabbr1 A G 17: 37,373,598 (GRCm39) N498S possibly damaging Het
Gja10 T C 4: 32,602,070 (GRCm39) K105E probably damaging Het
Glra4 C T X: 135,663,493 (GRCm39) R352H probably benign Het
Gm19402 G T 10: 77,526,323 (GRCm39) probably benign Het
Hadha T A 5: 30,346,025 (GRCm39) M200L probably benign Het
Hoxc9 T A 15: 102,892,432 (GRCm39) M215K probably damaging Het
Huwe1 A T X: 150,665,676 (GRCm39) Q1231L possibly damaging Het
Ifi214 T A 1: 173,356,995 (GRCm39) N36I probably damaging Het
Il17ra A G 6: 120,452,542 (GRCm39) N242D probably benign Het
Il1rl1 A T 1: 40,485,329 (GRCm39) K260N possibly damaging Het
Lhx6 C A 2: 35,993,528 (GRCm39) A57S probably benign Het
Mdh2 T A 5: 135,814,879 (GRCm39) I116N probably damaging Het
Met T C 6: 17,558,895 (GRCm39) probably benign Het
Mgam A G 6: 40,638,211 (GRCm39) D387G probably damaging Het
Myo3a T C 2: 22,302,411 (GRCm39) S287P probably benign Het
Nol8 T G 13: 49,813,428 (GRCm39) N140K possibly damaging Het
Nrap C A 19: 56,377,823 (GRCm39) A56S probably damaging Het
Nuggc A G 14: 65,876,030 (GRCm39) T548A probably benign Het
Or10j2 T A 1: 173,098,275 (GRCm39) C178S probably damaging Het
Or2i1 A T 17: 37,508,554 (GRCm39) F102I possibly damaging Het
Pcdh11x A G X: 119,309,282 (GRCm39) T242A probably benign Het
Pcdhb8 A G 18: 37,489,029 (GRCm39) N236D probably damaging Het
Pdzph1 T C 17: 59,186,147 (GRCm39) I1215V possibly damaging Het
Pou4f2 T A 8: 79,161,734 (GRCm39) I290F probably damaging Het
Pramel22 A T 4: 143,381,887 (GRCm39) F270I probably benign Het
Ptpn3 G A 4: 57,270,156 (GRCm39) T2I probably damaging Het
Rab28 A T 5: 41,855,790 (GRCm39) D68E probably damaging Het
Rbl1 T C 2: 156,994,812 (GRCm39) probably null Het
Samd4 A G 14: 47,254,249 (GRCm39) T137A probably benign Het
Serpinb1b T G 13: 33,277,842 (GRCm39) D358E probably damaging Het
Serpinb9c G A 13: 33,335,787 (GRCm39) L222F probably damaging Het
Slc24a3 A G 2: 145,482,169 (GRCm39) D609G probably damaging Het
Slc25a40 A C 5: 8,503,298 (GRCm39) *338Y probably null Het
Spef2 T A 15: 9,676,376 (GRCm39) I732L probably benign Het
Srrm2 T C 17: 24,034,999 (GRCm39) probably benign Het
Ssxb13 A G X: 8,615,692 (GRCm39) E75G probably benign Het
Stmnd1 A T 13: 46,453,157 (GRCm39) I278L probably benign Het
Strap C A 6: 137,722,502 (GRCm39) probably benign Het
Supt16 C T 14: 52,414,489 (GRCm39) E438K probably benign Het
Tcf4 A C 18: 69,788,090 (GRCm39) E160D probably damaging Het
Themis3 A G 17: 66,863,092 (GRCm39) Y289H probably benign Het
Tmem87a T C 2: 120,216,351 (GRCm39) T180A probably benign Het
Trappc10 A G 10: 78,033,678 (GRCm39) V963A possibly damaging Het
Trav19 G T 14: 54,083,072 (GRCm39) C49F probably damaging Het
Trim30c A G 7: 104,031,541 (GRCm39) S425P possibly damaging Het
Ubap1 A T 4: 41,387,333 (GRCm39) R414S probably benign Het
Usp9x A G X: 13,017,579 (GRCm39) S1696G probably benign Het
Vipas39 G A 12: 87,296,171 (GRCm39) T274I probably benign Het
Vmn1r185 A T 7: 26,311,046 (GRCm39) V153E probably damaging Het
Vmn2r124 A G 17: 18,282,827 (GRCm39) T174A probably benign Het
Wdr59 T A 8: 112,227,706 (GRCm39) S124C probably benign Het
Xirp2 A T 2: 67,340,270 (GRCm39) D837V probably damaging Het
Zfp185 A G X: 72,061,997 (GRCm39) D403G possibly damaging Het
Zfp516 A T 18: 83,005,795 (GRCm39) K900* probably null Het
Other mutations in Plekha8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00927:Plekha8 APN 6 54,606,822 (GRCm39) nonsense probably null
IGL02148:Plekha8 APN 6 54,592,271 (GRCm39) missense probably damaging 1.00
IGL02959:Plekha8 APN 6 54,592,254 (GRCm39) missense probably damaging 1.00
IGL02986:Plekha8 APN 6 54,606,851 (GRCm39) missense probably damaging 1.00
IGL03214:Plekha8 APN 6 54,612,755 (GRCm39) missense probably damaging 1.00
R0372:Plekha8 UTSW 6 54,593,743 (GRCm39) critical splice donor site probably null
R0519:Plekha8 UTSW 6 54,599,092 (GRCm39) splice site probably benign
R0606:Plekha8 UTSW 6 54,606,805 (GRCm39) missense probably damaging 1.00
R1797:Plekha8 UTSW 6 54,617,959 (GRCm39) missense probably damaging 1.00
R3015:Plekha8 UTSW 6 54,599,107 (GRCm39) missense probably benign 0.01
R3508:Plekha8 UTSW 6 54,590,179 (GRCm39) missense probably damaging 1.00
R3809:Plekha8 UTSW 6 54,596,334 (GRCm39) missense probably benign 0.00
R4360:Plekha8 UTSW 6 54,599,171 (GRCm39) missense probably benign
R4757:Plekha8 UTSW 6 54,599,213 (GRCm39) missense probably benign
R4822:Plekha8 UTSW 6 54,601,546 (GRCm39) missense probably damaging 1.00
R5721:Plekha8 UTSW 6 54,590,091 (GRCm39) missense probably damaging 1.00
R6359:Plekha8 UTSW 6 54,590,104 (GRCm39) missense probably damaging 0.98
R6756:Plekha8 UTSW 6 54,601,125 (GRCm39) nonsense probably null
R6857:Plekha8 UTSW 6 54,606,920 (GRCm39) missense probably damaging 1.00
R7319:Plekha8 UTSW 6 54,601,206 (GRCm39) missense probably benign 0.06
R7420:Plekha8 UTSW 6 54,590,179 (GRCm39) missense probably damaging 1.00
R7994:Plekha8 UTSW 6 54,592,230 (GRCm39) missense probably damaging 1.00
R8348:Plekha8 UTSW 6 54,607,539 (GRCm39) missense probably damaging 1.00
R8448:Plekha8 UTSW 6 54,607,539 (GRCm39) missense probably damaging 1.00
R8710:Plekha8 UTSW 6 54,599,245 (GRCm39) missense probably benign 0.00
R8889:Plekha8 UTSW 6 54,592,540 (GRCm39) intron probably benign
R8976:Plekha8 UTSW 6 54,607,521 (GRCm39) missense probably damaging 0.99
R9386:Plekha8 UTSW 6 54,605,846 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05