Incidental Mutation 'IGL02939:Plekha4'
ID 365928
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekha4
Ensembl Gene ENSMUSG00000040428
Gene Name pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4
Synonyms 2410005C22Rik, PEPP1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.118) question?
Stock # IGL02939
Quality Score
Status
Chromosome 7
Chromosomal Location 45175754-45203653 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 45181787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 64 (Q64*)
Ref Sequence ENSEMBL: ENSMUSP00000148001 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051810] [ENSMUST00000209517] [ENSMUST00000210480] [ENSMUST00000211155] [ENSMUST00000211227] [ENSMUST00000211797]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000051810
AA Change: Q64*
SMART Domains Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
AA Change: Q64*

DomainStartEndE-ValueType
low complexity region 8 27 N/A INTRINSIC
PH 55 155 8.18e-19 SMART
low complexity region 162 190 N/A INTRINSIC
low complexity region 228 260 N/A INTRINSIC
low complexity region 292 303 N/A INTRINSIC
low complexity region 321 334 N/A INTRINSIC
coiled coil region 376 419 N/A INTRINSIC
low complexity region 519 535 N/A INTRINSIC
low complexity region 608 628 N/A INTRINSIC
low complexity region 649 659 N/A INTRINSIC
low complexity region 706 719 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000209517
AA Change: Q64*
Predicted Effect probably benign
Transcript: ENSMUST00000210480
Predicted Effect probably null
Transcript: ENSMUST00000211155
AA Change: Q64*
Predicted Effect probably null
Transcript: ENSMUST00000211227
AA Change: Q64*
Predicted Effect silent
Transcript: ENSMUST00000211797
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp6ap1 A G X: 73,340,924 (GRCm39) D47G probably benign Het
Atr T C 9: 95,747,314 (GRCm39) F199L probably benign Het
Bivm C A 1: 44,182,120 (GRCm39) H443N probably benign Het
Btnl2 A T 17: 34,580,043 (GRCm39) H192L probably benign Het
Ccdc178 A T 18: 22,253,775 (GRCm39) C155S probably benign Het
Celsr1 C A 15: 85,785,673 (GRCm39) V2934L probably benign Het
Celsr3 T C 9: 108,726,652 (GRCm39) S3294P probably damaging Het
Ddx10 T A 9: 53,115,579 (GRCm39) E585V possibly damaging Het
Elapor2 T C 5: 9,511,478 (GRCm39) Y947H probably damaging Het
Eps15l1 A T 8: 73,138,606 (GRCm39) probably benign Het
Erlin1 G T 19: 44,051,491 (GRCm39) T70K probably damaging Het
Ext2 A T 2: 93,534,964 (GRCm39) probably null Het
Fam124a G A 14: 62,793,368 (GRCm39) probably null Het
Fam53a T C 5: 33,765,103 (GRCm39) D201G probably damaging Het
Fgf14 C T 14: 124,369,891 (GRCm39) G136D possibly damaging Het
Gdi2 A T 13: 3,614,623 (GRCm39) T323S probably benign Het
Gemin5 A T 11: 58,047,556 (GRCm39) N339K probably damaging Het
Golga4 A G 9: 118,364,522 (GRCm39) E286G probably benign Het
Golga4 A C 9: 118,363,700 (GRCm39) K233T probably damaging Het
Gosr1 A G 11: 76,641,732 (GRCm39) probably benign Het
Haus8 A G 8: 71,708,361 (GRCm39) probably benign Het
Itgb3bp T C 4: 99,690,373 (GRCm39) T49A probably null Het
Ldlrad4 A G 18: 68,387,585 (GRCm39) D299G probably damaging Het
Lpo A G 11: 87,706,004 (GRCm39) M273T possibly damaging Het
Map3k4 T A 17: 12,491,036 (GRCm39) S132C probably damaging Het
Mycbp2 T G 14: 103,414,715 (GRCm39) T2566P probably benign Het
Nalcn T C 14: 123,536,284 (GRCm39) E1255G probably null Het
Nop56 A T 2: 130,120,117 (GRCm39) K157N probably damaging Het
Or10g9 C T 9: 39,912,194 (GRCm39) E110K probably benign Het
Or6c1 A T 10: 129,517,857 (GRCm39) Y250* probably null Het
Pcdh15 A G 10: 74,340,648 (GRCm39) probably benign Het
Pi4ka T C 16: 17,172,074 (GRCm39) H557R probably damaging Het
Ppp2r3c G A 12: 55,345,192 (GRCm39) probably benign Het
Rgmb C T 17: 16,027,755 (GRCm39) M321I probably benign Het
Rnf31 T C 14: 55,833,131 (GRCm39) S363P probably benign Het
Sap18b T A 8: 96,552,329 (GRCm39) M113K probably benign Het
Scara3 T A 14: 66,169,105 (GRCm39) M171L probably benign Het
Slc9a2 T G 1: 40,781,863 (GRCm39) M364R probably damaging Het
Sorcs1 C T 19: 50,666,368 (GRCm39) W180* probably null Het
Stat6 T A 10: 127,482,809 (GRCm39) M10K probably benign Het
Sun1 T C 5: 139,221,243 (GRCm39) probably benign Het
Tead2 T C 7: 44,869,858 (GRCm39) probably benign Het
Tjp1 T G 7: 64,964,638 (GRCm39) E844D probably damaging Het
Tmtc2 A G 10: 105,206,411 (GRCm39) S295P probably damaging Het
Ttn G A 2: 76,612,756 (GRCm39) R17108C probably damaging Het
Ubr1 T C 2: 120,711,664 (GRCm39) probably null Het
Vmn2r108 T A 17: 20,691,545 (GRCm39) H326L probably benign Het
Xdh A G 17: 74,250,840 (GRCm39) probably null Het
Zfp385b A G 2: 77,242,403 (GRCm39) S439P probably benign Het
Zfp597 G A 16: 3,683,805 (GRCm39) S317L probably benign Het
Zfp638 A G 6: 83,946,214 (GRCm39) D1081G probably damaging Het
Zfp93 C T 7: 23,974,509 (GRCm39) H165Y possibly damaging Het
Other mutations in Plekha4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01308:Plekha4 APN 7 45,187,659 (GRCm39) missense probably damaging 0.97
IGL01716:Plekha4 APN 7 45,183,767 (GRCm39) missense probably damaging 0.98
IGL02072:Plekha4 APN 7 45,187,722 (GRCm39) missense probably benign 0.29
IGL02815:Plekha4 APN 7 45,187,836 (GRCm39) missense probably damaging 1.00
PIT4494001:Plekha4 UTSW 7 45,197,503 (GRCm39) missense probably damaging 1.00
R0085:Plekha4 UTSW 7 45,193,373 (GRCm39) nonsense probably null
R0239:Plekha4 UTSW 7 45,181,782 (GRCm39) missense probably damaging 1.00
R0239:Plekha4 UTSW 7 45,181,782 (GRCm39) missense probably damaging 1.00
R1036:Plekha4 UTSW 7 45,199,400 (GRCm39) splice site probably benign
R1955:Plekha4 UTSW 7 45,203,330 (GRCm39) missense probably damaging 0.99
R2049:Plekha4 UTSW 7 45,203,222 (GRCm39) missense probably benign 0.01
R2187:Plekha4 UTSW 7 45,198,698 (GRCm39) missense probably damaging 0.99
R2888:Plekha4 UTSW 7 45,187,668 (GRCm39) missense probably damaging 1.00
R5086:Plekha4 UTSW 7 45,203,082 (GRCm39) missense possibly damaging 0.82
R5357:Plekha4 UTSW 7 45,184,195 (GRCm39) missense probably damaging 1.00
R5604:Plekha4 UTSW 7 45,198,580 (GRCm39) missense probably damaging 0.96
R5611:Plekha4 UTSW 7 45,203,065 (GRCm39) missense probably benign
R6255:Plekha4 UTSW 7 45,203,226 (GRCm39) utr 3 prime probably benign
R6341:Plekha4 UTSW 7 45,190,572 (GRCm39) missense probably damaging 1.00
R6502:Plekha4 UTSW 7 45,180,000 (GRCm39) start codon destroyed probably null 0.87
R6720:Plekha4 UTSW 7 45,190,310 (GRCm39) missense possibly damaging 0.86
R6776:Plekha4 UTSW 7 45,184,241 (GRCm39) missense probably damaging 1.00
R8057:Plekha4 UTSW 7 45,198,695 (GRCm39) missense probably benign
R9095:Plekha4 UTSW 7 45,190,492 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18