Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02072:Plekha4'

185840

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 #

IGL02072

Quality Score

Status

Chromosome

Chromosomal Location

45175754-45203653 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45187722 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 265 (F265I)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051810] [ENSMUST00000209517] [ENSMUST00000211155] [ENSMUST00000211227] [ENSMUST00000211797]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000051810
AA Change: F265I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000051468
Gene: ENSMUSG00000040428
AA Change: F265I

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000121932
AA Change: F265I

PolyPhen 2 Score 0.290 (Sensitivity: 0.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000113802
Gene: ENSMUSG00000040428
AA Change: F265I

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000209517
AA Change: F265I

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

Predicted Effect

probably benign
Transcript: ENSMUST00000211155
AA Change: F265I

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

probably benign
Transcript: ENSMUST00000211227
AA Change: F265I

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211794

Predicted Effect

probably benign
Transcript: ENSMUST00000211797
AA Change: F194I

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930595D18Rik	T	A	12: 111,128,254 (GRCm39)		probably benign	Het
Atm	A	G	9: 53,371,096 (GRCm39)	S2251P	probably benign	Het
C1qtnf6	T	A	15: 78,411,551 (GRCm39)	K42*	probably null	Het
Ddx20	A	T	3: 105,587,943 (GRCm39)	V379E	probably damaging	Het
Dnah7a	A	T	1: 53,644,986 (GRCm39)	W1017R	probably damaging	Het
Eif2s1	T	A	12: 78,926,788 (GRCm39)	N179K	probably benign	Het
Exosc9	A	T	3: 36,608,821 (GRCm39)	N140I	probably damaging	Het
Fancg	A	C	4: 43,007,062 (GRCm39)	H238Q	probably benign	Het
Fyttd1	A	G	16: 32,721,031 (GRCm39)	I110V	probably damaging	Het
G6pd2	A	T	5: 61,966,753 (GRCm39)	D176V	probably damaging	Het
Gm5114	A	G	7: 39,060,826 (GRCm39)	S8P	probably benign	Het
Hoxa1	T	A	6: 52,133,878 (GRCm39)	M283L	probably damaging	Het
Hspbp1	A	T	7: 4,680,720 (GRCm39)	L252H	probably damaging	Het
Itgb2l	A	T	16: 96,231,808 (GRCm39)	D319E	probably benign	Het
Kdm6a	A	G	X: 18,120,528 (GRCm39)	T737A	probably benign	Het
Kmt2c	A	T	5: 25,610,430 (GRCm39)	D225E	possibly damaging	Het
Lamb2	T	A	9: 108,359,107 (GRCm39)	Y274*	probably null	Het
Lratd2	A	G	15: 60,695,302 (GRCm39)	L148P	probably damaging	Het
Mamdc4	A	G	2: 25,458,351 (GRCm39)	L353P	probably damaging	Het
Mid2	T	A	X: 139,637,201 (GRCm39)	H258Q	probably damaging	Het
Msh3	A	C	13: 92,436,803 (GRCm39)	N502K	probably damaging	Het
Nalcn	T	C	14: 123,560,770 (GRCm39)	H769R	probably benign	Het
Nfx1	A	G	4: 41,016,119 (GRCm39)	I894V	probably benign	Het
Notch3	G	A	17: 32,366,048 (GRCm39)	Q1018*	probably null	Het
Oas1e	A	G	5: 120,929,846 (GRCm39)		probably null	Het
Or4f14d	A	T	2: 111,960,426 (GRCm39)	H243Q	probably damaging	Het
Or7g34	A	G	9: 19,478,245 (GRCm39)	I145T	probably benign	Het
Rnf123	G	A	9: 107,945,501 (GRCm39)	R390*	probably null	Het
Slc9a3	T	C	13: 74,313,978 (GRCm39)	I762T	probably benign	Het
Spag1	C	A	15: 36,190,658 (GRCm39)	P158Q	probably damaging	Het
Spout1	G	A	2: 30,067,938 (GRCm39)	Q26*	probably null	Het
Sulf1	T	C	1: 12,918,432 (GRCm39)	Y50H	probably damaging	Het
Sytl5	C	T	X: 9,829,825 (GRCm39)		probably benign	Het
Tcof1	T	C	18: 60,964,637 (GRCm39)	E663G	possibly damaging	Het
Tmc3	A	G	7: 83,265,148 (GRCm39)	I681V	probably benign	Het
Tnfsf4	G	T	1: 161,244,860 (GRCm39)	C183F	probably damaging	Het
Ubqln3	A	T	7: 103,790,506 (GRCm39)	L528Q	possibly damaging	Het
Upf3a	A	C	8: 13,848,368 (GRCm39)	Q388P	probably damaging	Het
Vrk1	T	C	12: 106,009,144 (GRCm39)	V70A	probably benign	Het

Other mutations in Plekha4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL02815:Plekha4	APN	7	45,187,836 (GRCm39)	missense	probably damaging	1.00
IGL02939:Plekha4	APN	7	45,181,787 (GRCm39)	nonsense	probably null
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

2014-05-07