Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02079:Plekhg3'

283371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhg3

Ensembl Gene

ENSMUSG00000052609

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 3

Synonyms

MGC40768

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02079

Quality Score

Status

Chromosome

Chromosomal Location

76530891-76580488 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76560429 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 88 (Y88N)

Ref Sequence

ENSEMBL: ENSMUSP00000151867 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075249] [ENSMUST00000217730] [ENSMUST00000218380] [ENSMUST00000219063] [ENSMUST00000219751]

Predicted Effect

probably benign
Transcript: ENSMUST00000075249
AA Change: Y88N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: Y88N

Domain	Start	End	E-Value	Type
low complexity region	18	34	N/A	INTRINSIC
RhoGEF	97	271	6.67e-51	SMART
PH	297	396	2.48e-9	SMART
coiled coil region	515	552	N/A	INTRINSIC
low complexity region	563	585	N/A	INTRINSIC
low complexity region	696	710	N/A	INTRINSIC
low complexity region	727	737	N/A	INTRINSIC
low complexity region	753	766	N/A	INTRINSIC
low complexity region	978	993	N/A	INTRINSIC
low complexity region	1233	1246	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000217730

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218357

Predicted Effect

probably benign
Transcript: ENSMUST00000218380
AA Change: Y88N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218461

Predicted Effect

probably benign
Transcript: ENSMUST00000219063
AA Change: Y88N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

probably benign
Transcript: ENSMUST00000219751
AA Change: Y88N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	T	A	3: 108,481,359	N236I	possibly damaging	Het
Abl1	T	C	2: 31,689,948		probably benign	Het
Ago4	A	T	4: 126,517,084	M204K	probably damaging	Het
Alms1	T	C	6: 85,628,634	V2422A	probably damaging	Het
Ap5z1	T	C	5: 142,477,113		probably null	Het
Arsa	T	C	15: 89,473,351	T470A	probably benign	Het
Bri3bp	T	C	5: 125,454,689	V233A	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Ephb6	T	A	6: 41,616,014	D395E	possibly damaging	Het
Flt1	T	A	5: 147,568,831		probably benign	Het
Fry	A	T	5: 150,399,624	N1080I	probably damaging	Het
Gdpgp1	T	A	7: 80,239,020	D266E	probably benign	Het
Gspt1	A	G	16: 11,240,829	S123P	probably benign	Het
Kctd17	T	C	15: 78,430,156		probably benign	Het
Lamb2	T	A	9: 108,482,113	C313S	probably damaging	Het
Lcor	T	A	19: 41,555,687	S106R	probably benign	Het
Lgr5	A	C	10: 115,452,194	S776R	probably damaging	Het
Mettl16	T	G	11: 74,817,624	C510G	probably damaging	Het
Mlip	T	C	9: 77,239,529	T101A	possibly damaging	Het
Myh6	A	T	14: 54,950,541	L1152Q	probably damaging	Het
Mylk	G	A	16: 34,860,631	R87H	possibly damaging	Het
Npepl1	C	T	2: 174,119,390		probably benign	Het
Nrxn1	A	T	17: 90,643,083	M548K	probably damaging	Het
Olfr1205	T	A	2: 88,831,647	C177S	probably damaging	Het
Olfr514	T	A	7: 108,825,936	E21V	probably damaging	Het
Pate3	T	A	9: 35,646,153	Q69L	probably damaging	Het
Piwil1	T	C	5: 128,742,003	V192A	possibly damaging	Het
Plcxd2	A	T	16: 45,972,343	I211N	probably benign	Het
Rabgap1l	C	T	1: 160,738,970	C58Y	probably benign	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Rusc2	A	G	4: 43,425,668	S1258G	probably benign	Het
Scn1a	T	C	2: 66,323,360	R710G	probably benign	Het
Wwc1	A	G	11: 35,876,058	S457P	probably damaging	Het
Xdh	C	T	17: 73,891,277	G1205D	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	probably damaging	Het
Zfp592	T	C	7: 81,039,230	S1080P	probably benign	Het

Other mutations in Plekhg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Plekhg3	APN	12	76562278	missense	probably damaging	0.99
IGL01143:Plekhg3	APN	12	76564982	critical splice donor site	probably null
IGL02349:Plekhg3	APN	12	76562300	missense	probably damaging	1.00
IGL02442:Plekhg3	APN	12	76578353	missense	probably benign	0.01
IGL02570:Plekhg3	APN	12	76578245	missense	probably benign
flagging	UTSW	12	76560520	critical splice donor site	probably null
trailing	UTSW	12	76564961	missense	probably benign	0.15
R0344:Plekhg3	UTSW	12	76566266	nonsense	probably null
R0667:Plekhg3	UTSW	12	76576598	missense	probably damaging	1.00
R1269:Plekhg3	UTSW	12	76560469	missense	probably damaging	1.00
R1566:Plekhg3	UTSW	12	76572065	missense	possibly damaging	0.54
R1905:Plekhg3	UTSW	12	76576217	missense	probably benign	0.05
R2885:Plekhg3	UTSW	12	76564961	missense	probably benign	0.15
R2962:Plekhg3	UTSW	12	76572659	critical splice donor site	probably null
R3784:Plekhg3	UTSW	12	76560520	critical splice donor site	probably null
R3941:Plekhg3	UTSW	12	76573359	missense	probably damaging	0.98
R4056:Plekhg3	UTSW	12	76565247	missense	probably damaging	1.00
R4080:Plekhg3	UTSW	12	76577981	missense	probably benign	0.02
R4412:Plekhg3	UTSW	12	76577764	missense	probably damaging	0.96
R4413:Plekhg3	UTSW	12	76577764	missense	probably damaging	0.96
R4704:Plekhg3	UTSW	12	76578238	missense	probably damaging	1.00
R4720:Plekhg3	UTSW	12	76578322	missense	possibly damaging	0.59
R4738:Plekhg3	UTSW	12	76576914	missense	probably damaging	1.00
R4898:Plekhg3	UTSW	12	76564125	missense	probably damaging	1.00
R4994:Plekhg3	UTSW	12	76565537	missense	possibly damaging	0.68
R4999:Plekhg3	UTSW	12	76565247	missense	possibly damaging	0.95
R5484:Plekhg3	UTSW	12	76578400	missense	possibly damaging	0.76
R5591:Plekhg3	UTSW	12	76560292	missense	possibly damaging	0.80
R6019:Plekhg3	UTSW	12	76577941	nonsense	probably null
R6147:Plekhg3	UTSW	12	76565211	missense	probably damaging	0.96
R6272:Plekhg3	UTSW	12	76576845	missense	probably benign	0.00
R6482:Plekhg3	UTSW	12	76576004	missense	probably benign	0.01
R7081:Plekhg3	UTSW	12	76578245	missense	probably benign
R7349:Plekhg3	UTSW	12	76564565	missense	probably benign	0.45
R7439:Plekhg3	UTSW	12	76576485	missense	probably damaging	1.00
R7449:Plekhg3	UTSW	12	76566222	missense	probably damaging	0.98
R7879:Plekhg3	UTSW	12	76565569	missense	probably damaging	1.00
R8256:Plekhg3	UTSW	12	76562267	missense	probably damaging	0.98
R8298:Plekhg3	UTSW	12	76577078	missense	probably damaging	1.00
R8492:Plekhg3	UTSW	12	76576016	missense	probably benign
X0062:Plekhg3	UTSW	12	76573343	missense	possibly damaging	0.89
Z1176:Plekhg3	UTSW	12	76575856	critical splice acceptor site	probably null
Z1177:Plekhg3	UTSW	12	76578328	missense	probably damaging	1.00

Posted On

2015-04-16