Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02148:Plekha8'

281856

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 #

IGL02148

Quality Score

Status

Chromosome

Chromosomal Location

54572096-54622824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54592271 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 32 (S32G)

Ref Sequence

ENSEMBL: ENSMUSP00000098935 (fasta)

Gene Model

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

AlphaFold

Q80W71

Predicted Effect

probably damaging
Transcript: ENSMUST00000101385
AA Change: S32G

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

SMART Domains

Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225
AA Change: S32G

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 benign
Transcript: ENSMUST00000119706
AA Change: S77G

PolyPhen 2 Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225
AA Change: S77G

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	C	T	4: 63,300,716 (GRCm39)		probably benign	Het
AU040320	T	C	4: 126,733,469 (GRCm39)	V663A	possibly damaging	Het
Cdh13	A	G	8: 119,925,697 (GRCm39)	D355G	probably damaging	Het
Cdyl2	A	G	8: 117,315,983 (GRCm39)		probably benign	Het
Csnk1g3	C	T	18: 54,086,360 (GRCm39)	R422C	probably benign	Het
Dclk1	T	A	3: 55,407,520 (GRCm39)	V233D	probably damaging	Het
Ddx59	T	C	1: 136,361,565 (GRCm39)	S477P	probably damaging	Het
Epb41l1	A	T	2: 156,353,748 (GRCm39)		probably benign	Het
Epha2	T	C	4: 141,045,835 (GRCm39)	L453P	probably damaging	Het
Esco2	T	C	14: 66,064,044 (GRCm39)	H380R	probably benign	Het
Fbxo38	T	C	18: 62,669,298 (GRCm39)	M51V	probably benign	Het
Fgb	T	C	3: 82,950,594 (GRCm39)	M387V	probably damaging	Het
Fryl	A	G	5: 73,233,302 (GRCm39)	L1522S	probably benign	Het
Gdf9	T	A	11: 53,327,569 (GRCm39)	M175K	probably benign	Het
Gm20547	C	T	17: 35,079,524 (GRCm39)	D243N	probably benign	Het
Gramd1b	T	A	9: 40,227,060 (GRCm39)	D299V	probably damaging	Het
Gsg1l	G	T	7: 125,522,671 (GRCm39)	Q186K	possibly damaging	Het
H2bl1	A	T	13: 99,120,691 (GRCm39)	F112I	probably damaging	Het
Katnip	A	T	7: 125,472,648 (GRCm39)		probably null	Het
Kcnh5	A	G	12: 74,944,426 (GRCm39)	L941P	possibly damaging	Het
Lrrc8d	A	G	5: 105,960,253 (GRCm39)	D221G	possibly damaging	Het
Med19	T	C	2: 84,515,603 (GRCm39)	F96L	probably damaging	Het
Mei1	C	A	15: 81,976,912 (GRCm39)	S589*	probably null	Het
Myh15	G	T	16: 48,936,678 (GRCm39)	D708Y	probably damaging	Het
Naca	C	T	10: 127,879,753 (GRCm39)		probably benign	Het
Or5d43	A	T	2: 88,104,566 (GRCm39)	Y276N	possibly damaging	Het
Otog	G	A	7: 45,950,011 (GRCm39)	C306Y	probably damaging	Het
Phldb1	T	C	9: 44,607,369 (GRCm39)	K1279E	probably damaging	Het
Pkd1	C	T	17: 24,798,810 (GRCm39)	T369I	probably damaging	Het
Pramel25	T	A	4: 143,519,304 (GRCm39)	Y22N	probably benign	Het
Sema4g	A	G	19: 44,984,908 (GRCm39)	T113A	probably damaging	Het
Setdb2	C	T	14: 59,639,764 (GRCm39)	R709Q	probably damaging	Het
Sh3rf3	T	C	10: 58,922,562 (GRCm39)	M546T	probably benign	Het
Slc27a5	A	G	7: 12,728,878 (GRCm39)	V328A	probably damaging	Het
Spef1	T	C	2: 131,014,688 (GRCm39)	N78S	probably benign	Het
Tln1	T	C	4: 43,555,388 (GRCm39)	T179A	probably damaging	Het
Tmc5	T	C	7: 118,244,547 (GRCm39)	I475T	probably damaging	Het
Top2b	A	G	14: 16,400,488 (GRCm38)	Y621C	probably damaging	Het
Ttf1	T	C	2: 28,969,438 (GRCm39)	F727L	probably benign	Het
Tufm	T	C	7: 126,088,332 (GRCm39)	L75P	probably damaging	Het
Ugt1a2	T	A	1: 88,128,796 (GRCm39)	D146E	probably damaging	Het
Usp15	G	A	10: 122,963,742 (GRCm39)	T533I	probably damaging	Het
Vmn1r113	A	G	7: 20,521,747 (GRCm39)	T180A	probably benign	Het
Vmn1r205	G	T	13: 22,776,395 (GRCm39)	P236T	probably damaging	Het
Vmn2r112	T	G	17: 22,838,013 (GRCm39)	C825G	probably damaging	Het
Zfp712	T	A	13: 67,190,222 (GRCm39)	I102F	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
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

2015-04-16