Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02959:Plekha8'

365257

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 #

IGL02959

Quality Score

Status

Chromosome

Chromosomal Location

54572096-54622824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54592254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 71 (F71S)

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: F26S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000098935
Gene: ENSMUSG00000005225
AA Change: F26S

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: F71S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112466
Gene: ENSMUSG00000005225
AA Change: F71S

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
A2ml1	G	T	6: 128,544,023 (GRCm39)	A506D	probably benign	Het
Agap1	G	T	1: 89,770,913 (GRCm39)	V635L	possibly damaging	Het
Akr1c12	T	C	13: 4,329,331 (GRCm39)	K9E	probably benign	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Atm	T	C	9: 53,382,718 (GRCm39)	H1957R	probably damaging	Het
Bcr	T	C	10: 74,996,222 (GRCm39)	F922S	probably benign	Het
Cfap44	T	A	16: 44,291,230 (GRCm39)		probably benign	Het
Chil5	A	G	3: 105,926,906 (GRCm39)	V243A	probably damaging	Het
Csmd1	A	G	8: 15,960,465 (GRCm39)	C3317R	probably damaging	Het
Dsc1	T	C	18: 20,241,942 (GRCm39)	K133R	probably damaging	Het
Ecm1	T	A	3: 95,644,989 (GRCm39)	Q136L	probably damaging	Het
Fscn3	C	A	6: 28,435,997 (GRCm39)	A431E	possibly damaging	Het
Gas7	C	T	11: 67,565,061 (GRCm39)		probably benign	Het
Gbx2	A	G	1: 89,856,517 (GRCm39)	V291A	probably damaging	Het
Hipk3	G	A	2: 104,301,604 (GRCm39)	T196M	probably damaging	Het
Il20ra	T	A	10: 19,634,789 (GRCm39)	N343K	probably benign	Het
Il24	C	T	1: 130,813,470 (GRCm39)	W42*	probably null	Het
Kif13b	A	T	14: 65,005,166 (GRCm39)	I1153F	probably damaging	Het
Krt1c	A	T	15: 101,719,763 (GRCm39)	S636T	unknown	Het
Or11g24	A	T	14: 50,662,389 (GRCm39)	M138L	possibly damaging	Het
Or13a25	C	T	7: 140,247,463 (GRCm39)	P81S	probably damaging	Het
Or14c40	T	C	7: 86,313,737 (GRCm39)	F289S	probably damaging	Het
Or4k52	T	A	2: 111,610,955 (GRCm39)	C97S	probably damaging	Het
Or6d15	A	T	6: 116,559,505 (GRCm39)	M134K	probably damaging	Het
Osmr	T	C	15: 6,845,378 (GRCm39)	D796G	possibly damaging	Het
Peli2	A	T	14: 48,477,754 (GRCm39)	T99S	probably benign	Het
Pi4k2a	A	T	19: 42,101,510 (GRCm39)	K317N	probably benign	Het
Pik3r1	T	G	13: 101,894,037 (GRCm39)	D44A	probably benign	Het
Pkhd1	G	T	1: 20,678,640 (GRCm39)	S96*	probably null	Het
Plekha5	A	G	6: 140,489,904 (GRCm39)	E9G	probably damaging	Het
Polq	G	T	16: 36,906,928 (GRCm39)	L2296F	probably damaging	Het
Rbm5	G	A	9: 107,631,384 (GRCm39)		probably benign	Het
Rc3h2	T	C	2: 37,295,366 (GRCm39)	K217E	probably damaging	Het
Scrib	A	G	15: 75,937,056 (GRCm39)	L350P	probably damaging	Het
Slc4a10	T	A	2: 62,098,487 (GRCm39)	S540R	probably damaging	Het
Smc3	G	T	19: 53,611,988 (GRCm39)	V354L	probably benign	Het
Smurf1	T	A	5: 144,836,199 (GRCm39)	I105F	probably damaging	Het
Stx7	G	T	10: 24,031,247 (GRCm39)	R17L	probably benign	Het
Tbca	C	T	13: 94,979,203 (GRCm39)	R74C	probably benign	Het
Tmem92	T	C	11: 94,669,504 (GRCm39)	Q153R	possibly damaging	Het
Trim41	C	A	11: 48,698,307 (GRCm39)	G553V	probably damaging	Het
Trim75	A	T	8: 65,435,417 (GRCm39)	N344K	possibly damaging	Het
Tsr1	A	G	11: 74,791,075 (GRCm39)	D218G	probably benign	Het
Ubr2	A	C	17: 47,286,877 (GRCm39)	V474G	probably damaging	Het
Unc45a	T	G	7: 79,982,721 (GRCm39)		probably benign	Het
Zfp609	C	T	9: 65,610,675 (GRCm39)	A763T	probably benign	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
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

2015-12-18