Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03369:Plekhf2'

420230

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhf2

Ensembl Gene

ENSMUSG00000049969

Gene Name

pleckstrin homology domain containing, family F (with FYVE domain) member 2

Synonyms

ZFYVE18, 1110070J07Rik

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.420) question?

Stock #

IGL03369

Quality Score

Status

Chromosome

Chromosomal Location

10988662-11007619 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10990703 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 213 (T213K)

Ref Sequence

ENSEMBL: ENSMUSP00000054745 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054776] [ENSMUST00000137891]

AlphaFold

Q91WB4

Predicted Effect

probably benign
Transcript: ENSMUST00000054776
AA Change: T213K

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000054745
Gene: ENSMUSG00000049969
AA Change: T213K

Domain	Start	End	E-Value	Type
PH	36	133	1.39e-12	SMART
FYVE	144	213	1.13e-27	SMART
low complexity region	237	249	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000137891

SMART Domains

Protein: ENSMUSP00000123520
Gene: ENSMUSG00000049969

Domain	Start	End	E-Value	Type
PH	36	133	1.39e-12	SMART
FYVE	144	197	1.03e-12	SMART

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
1700013D24Rik	T	C	6: 124,333,380 (GRCm39)	N72S	possibly damaging	Het
A2m	G	A	6: 121,653,862 (GRCm39)		probably null	Het
Angptl3	A	T	4: 98,923,057 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,301,746 (GRCm39)	D1106G	probably benign	Het
Capn13	G	A	17: 73,648,149 (GRCm39)		probably benign	Het
Cep250	A	G	2: 155,832,191 (GRCm39)	H1371R	probably benign	Het
Chrna1	A	T	2: 73,400,789 (GRCm39)	F247Y	probably benign	Het
Col2a1	T	C	15: 97,879,923 (GRCm39)	T813A	unknown	Het
Dab2	T	C	15: 6,464,790 (GRCm39)	V414A	possibly damaging	Het
Dach2	T	C	X: 112,465,937 (GRCm39)		probably benign	Het
Fap	A	G	2: 62,333,699 (GRCm39)		probably benign	Het
Fgd5	T	A	6: 91,965,396 (GRCm39)	V385D	probably damaging	Het
Fmnl1	A	G	11: 103,088,008 (GRCm39)		probably null	Het
Gorasp2	G	A	2: 70,513,336 (GRCm39)	G201D	probably damaging	Het
Gp2	T	A	7: 119,050,783 (GRCm39)	Q316L	probably damaging	Het
Gpx8	T	C	13: 113,179,696 (GRCm39)	I202V	probably damaging	Het
Gsta3	A	G	1: 21,335,173 (GRCm39)	K218R	probably benign	Het
Lama3	C	T	18: 12,686,340 (GRCm39)	T1195I	probably benign	Het
Map3k12	T	C	15: 102,410,514 (GRCm39)	R488G	possibly damaging	Het
Mapt	A	T	11: 104,173,259 (GRCm39)	Y18F	probably damaging	Het
Med21	T	C	6: 146,544,143 (GRCm39)	V12A	probably benign	Het
Mgat4b	A	G	11: 50,124,936 (GRCm39)	E457G	possibly damaging	Het
Mybl1	T	A	1: 9,742,780 (GRCm39)	K609N	probably damaging	Het
Ncaph2	T	G	15: 89,247,858 (GRCm39)	V75G	probably benign	Het
Neb	A	G	2: 52,068,049 (GRCm39)	Y5795H	probably benign	Het
Nup153	A	G	13: 46,854,459 (GRCm39)		probably null	Het
Or6c215	T	C	10: 129,638,340 (GRCm39)	D18G	probably damaging	Het
Or6y1	T	A	1: 174,276,435 (GRCm39)	I82N	probably damaging	Het
Plekho2	C	A	9: 65,466,776 (GRCm39)	G105W	probably damaging	Het
Polr3b	G	A	10: 84,512,816 (GRCm39)	G566D	probably damaging	Het
Rasgrf1	T	C	9: 89,892,504 (GRCm39)	I1068T	probably damaging	Het
Rnf213	A	T	11: 119,312,294 (GRCm39)	E907V	probably benign	Het
Runx1t1	C	T	4: 13,881,107 (GRCm39)	S469F	probably damaging	Het
Spata31e4	G	T	13: 50,857,200 (GRCm39)	C946F	possibly damaging	Het
Top1	A	T	2: 160,535,647 (GRCm39)	D182V	unknown	Het
Uckl1	T	C	2: 181,211,982 (GRCm39)	T375A	probably benign	Het
Usp53	A	T	3: 122,727,370 (GRCm39)		probably benign	Het
Vmn2r61	T	A	7: 41,909,517 (GRCm39)	I14N	probably benign	Het
Wbp4	A	T	14: 79,707,558 (GRCm39)	N184K	probably damaging	Het

Other mutations in Plekhf2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Plekhf2	APN	4	10,991,022 (GRCm39)	missense	probably damaging	1.00
IGL01755:Plekhf2	APN	4	10,991,308 (GRCm39)	missense	probably damaging	1.00
R0284:Plekhf2	UTSW	4	10,990,595 (GRCm39)	unclassified	probably benign
R0615:Plekhf2	UTSW	4	10,991,330 (GRCm39)	missense	probably benign	0.06

Posted On

2016-08-02