Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01909:Plekha3'

179752

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekha3

Ensembl Gene

ENSMUSG00000002733

Gene Name

pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 3

Synonyms

FAPP1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01909

Quality Score

Status

Chromosome

Chromosomal Location

76505625-76527172 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76517047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 133 (T133M)

Ref Sequence

ENSEMBL: ENSMUSP00000107551 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111920]

AlphaFold

Q9ERS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000111920
AA Change: T133M

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

SMART Domains

Protein: ENSMUSP00000107551
Gene: ENSMUSG00000002733
AA Change: T133M

Domain	Start	End	E-Value	Type
PH	1	95	4.85e-12	SMART
Blast:PH	106	177	5e-13	BLAST
low complexity region	189	203	N/A	INTRINSIC
low complexity region	215	224	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125119

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700111E14Rik	A	T	6: 36,914,152 (GRCm39)		probably benign	Het
Actn2	A	T	13: 12,324,479 (GRCm39)		probably null	Het
Apom	C	T	17: 35,350,208 (GRCm39)	A78T	probably benign	Het
Bambi	A	G	18: 3,508,229 (GRCm39)	Y7C	possibly damaging	Het
Cdc42bpb	T	C	12: 111,289,576 (GRCm39)	M418V	probably benign	Het
Clptm1	T	C	7: 19,389,701 (GRCm39)	N43D	probably benign	Het
Cspp1	T	C	1: 10,136,886 (GRCm39)	V241A	probably benign	Het
Ctnna3	T	A	10: 63,339,910 (GRCm39)	I32N	probably benign	Het
Elp2	A	G	18: 24,752,576 (GRCm39)		probably benign	Het
Frmd4a	A	G	2: 4,608,844 (GRCm39)	D893G	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
H2-M10.1	C	A	17: 36,635,971 (GRCm39)	G154*	probably null	Het
Igdcc3	C	T	9: 65,051,819 (GRCm39)	R141W	probably damaging	Het
Igkv14-130	A	G	6: 67,768,323 (GRCm39)	K60E	possibly damaging	Het
Kcnmb2	A	G	3: 32,252,512 (GRCm39)		probably benign	Het
Lrp4	T	C	2: 91,324,529 (GRCm39)	L1288P	possibly damaging	Het
Mavs	T	A	2: 131,087,441 (GRCm39)	M313K	probably benign	Het
Mia2	A	G	12: 59,154,731 (GRCm39)	E148G	possibly damaging	Het
Or6c76b	A	T	10: 129,692,950 (GRCm39)	T188S	probably damaging	Het
Or8b12b	T	A	9: 37,684,159 (GRCm39)	I68K	possibly damaging	Het
Or8d1	T	A	9: 38,767,013 (GRCm39)	Y218*	probably null	Het
Plxna1	A	T	6: 89,309,066 (GRCm39)		probably null	Het
Septin2	A	G	1: 93,426,823 (GRCm39)	N144S	probably damaging	Het
Slc9a4	T	C	1: 40,651,451 (GRCm39)		probably benign	Het
Slco1b2	T	A	6: 141,594,312 (GRCm39)	I59K	probably damaging	Het
Sp140l2	A	G	1: 85,231,907 (GRCm39)		probably benign	Het
Tnrc6b	A	G	15: 80,786,184 (GRCm39)	S1243G	possibly damaging	Het
Unc13a	T	A	8: 72,091,854 (GRCm39)		probably benign	Het
Vmn2r105	T	C	17: 20,444,918 (GRCm39)	R525G	probably damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r37	T	A	7: 9,219,032 (GRCm39)	K451*	probably null	Het
Vmn2r71	C	T	7: 85,270,001 (GRCm39)	T504I	probably benign	Het
Zfp668	A	T	7: 127,465,994 (GRCm39)	C397S	probably damaging	Het

Other mutations in Plekha3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02423:Plekha3	APN	2	76,510,524 (GRCm39)	missense	probably damaging	1.00
R0882:Plekha3	UTSW	2	76,513,142 (GRCm39)	missense	possibly damaging	0.67
R1742:Plekha3	UTSW	2	76,513,223 (GRCm39)	missense	possibly damaging	0.47
R2100:Plekha3	UTSW	2	76,523,007 (GRCm39)	missense	probably benign	0.03
R4812:Plekha3	UTSW	2	76,516,975 (GRCm39)	missense	probably damaging	0.99
R4934:Plekha3	UTSW	2	76,510,571 (GRCm39)	missense	possibly damaging	0.53
R6724:Plekha3	UTSW	2	76,517,745 (GRCm39)	missense	probably damaging	0.99
R7162:Plekha3	UTSW	2	76,523,110 (GRCm39)	critical splice donor site	probably null
R8121:Plekha3	UTSW	2	76,516,992 (GRCm39)	missense	probably damaging	1.00
R8966:Plekha3	UTSW	2	76,523,006 (GRCm39)	missense	probably benign	0.01
Z1177:Plekha3	UTSW	2	76,517,092 (GRCm39)	missense	possibly damaging	0.77

Posted On

2014-05-07