Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02986:Plekha8'

406712

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 #

IGL02986

Quality Score

Status

Chromosome

Chromosomal Location

54572096-54622824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54606851 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 382 (L382P)

Ref Sequence

ENSEMBL: ENSMUSP00000112466 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000101385] [ENSMUST00000119706]

AlphaFold

Q80W71

Predicted Effect

probably damaging
Transcript: ENSMUST00000101385
AA Change: L337P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225
AA Change: L337P

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000119706
AA Change: L382P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225
AA Change: L382P

Domain	Start	End	E-Value	Type
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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agrn	A	G	4: 156,263,311 (GRCm39)	V264A	possibly damaging	Het
Akr1c6	G	T	13: 4,486,414 (GRCm39)	V74L	probably benign	Het
Atp10a	T	G	7: 58,478,469 (GRCm39)	V1504G	probably benign	Het
Ccng1	A	G	11: 40,641,690 (GRCm39)		probably benign	Het
Celsr3	A	T	9: 108,718,454 (GRCm39)		probably null	Het
Coro1b	T	C	19: 4,199,470 (GRCm39)	V43A	possibly damaging	Het
Dab1	A	G	4: 104,336,418 (GRCm39)	T5A	probably benign	Het
Dennd5a	C	T	7: 109,534,731 (GRCm39)	A47T	probably benign	Het
Dgkb	A	G	12: 38,150,399 (GRCm39)	T69A	possibly damaging	Het
Dhx37	G	A	5: 125,496,379 (GRCm39)	P721L	probably damaging	Het
Efr3b	T	C	12: 4,016,495 (GRCm39)	N641D	probably benign	Het
Espnl	A	T	1: 91,272,572 (GRCm39)	Q600L	probably benign	Het
Esyt1	A	G	10: 128,352,626 (GRCm39)	V693A	probably damaging	Het
Fscn2	A	G	11: 120,258,176 (GRCm39)	D366G	possibly damaging	Het
Gcsam	C	A	16: 45,440,366 (GRCm39)	F136L	probably benign	Het
Gm10643	A	T	8: 84,790,887 (GRCm39)		probably benign	Het
Habp2	A	T	19: 56,299,624 (GRCm39)	D174V	probably benign	Het
Hgfac	T	C	5: 35,201,207 (GRCm39)	V210A	probably benign	Het
Hipk3	T	C	2: 104,264,086 (GRCm39)	D804G	probably damaging	Het
L3mbtl1	T	C	2: 162,812,225 (GRCm39)	W757R	probably damaging	Het
Lrrfip2	A	G	9: 110,990,461 (GRCm39)		probably null	Het
Ly75	T	C	2: 60,138,535 (GRCm39)	D1444G	probably damaging	Het
Mars1	A	G	10: 127,133,438 (GRCm39)	V765A	probably benign	Het
Med1	A	G	11: 98,047,086 (GRCm39)		probably benign	Het
Msln	G	A	17: 25,971,907 (GRCm39)		probably benign	Het
Nup188	T	A	2: 30,197,645 (GRCm39)		probably null	Het
Or1p1c	T	G	11: 74,160,928 (GRCm39)	F238V	possibly damaging	Het
Or7e173	A	T	9: 19,939,007 (GRCm39)	F76I	probably benign	Het
Otop2	T	A	11: 115,220,393 (GRCm39)	M411K	probably benign	Het
Picalm	A	G	7: 89,856,793 (GRCm39)	I649M	probably benign	Het
Pspn	A	G	17: 57,306,853 (GRCm39)		probably benign	Het
Rnf215	A	G	11: 4,089,793 (GRCm39)	T269A	probably damaging	Het
Rps6kc1	A	T	1: 190,566,258 (GRCm39)	L329Q	probably damaging	Het
Srms	T	A	2: 180,854,290 (GRCm39)	R92S	possibly damaging	Het
Ssxb10	C	A	X: 8,201,845 (GRCm39)	S157*	probably null	Het
Tfap2c	T	C	2: 172,399,171 (GRCm39)	S448P	probably damaging	Het
Thsd7b	A	G	1: 129,843,352 (GRCm39)	N855D	probably benign	Het
Timeless	A	C	10: 128,085,629 (GRCm39)	D887A	possibly damaging	Het
Tyms	T	C	5: 30,266,997 (GRCm39)	Y169C	probably damaging	Het
Unc45b	T	A	11: 82,808,005 (GRCm39)	C207S	probably damaging	Het
Utp20	A	G	10: 88,611,147 (GRCm39)	F1390S	probably damaging	Het
Vmn2r53	A	T	7: 12,315,393 (GRCm39)		probably benign	Het
Zfp369	A	T	13: 65,428,095 (GRCm39)	D18V	probably damaging	Het

Other mutations in Plekha8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00927:Plekha8	APN	6	54,606,822 (GRCm39)	nonsense	probably null
IGL01413:Plekha8	APN	6	54,599,261 (GRCm39)	missense	probably benign	0.00
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
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

2016-08-02