Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02939:Plekha4'

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: 0.113) question?

Stock #

IGL02939

Quality Score

Status

Chromosome

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*

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 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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

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
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