Mutagenetix > Incidental Mutation

Incidental Mutation 'R1269:Plekhg3'

151256

Institutional Source

Beutler Lab

Gene Symbol

Plekhg3

Ensembl Gene

ENSMUSG00000052609

Gene Name

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

Synonyms

MGC40768

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1269 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76580330-76627265 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76607243 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 101 (I101T)

Ref Sequence

ENSEMBL: ENSMUSP00000151704 (fasta)

Gene Model

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

AlphaFold

Q4VAC9

Predicted Effect

probably damaging
Transcript: ENSMUST00000075249
AA Change: I101T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000074729
Gene: ENSMUSG00000052609
AA Change: I101T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000218461

Predicted Effect

probably damaging
Transcript: ENSMUST00000219063
AA Change: I101T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219751
AA Change: I101T

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

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	C	T	11: 94,248,210 (GRCm39)	R1129Q	probably damaging	Het
Brd8	C	T	18: 34,742,857 (GRCm39)		probably null	Het
Ccdc9b	C	T	2: 118,591,871 (GRCm39)	E90K	possibly damaging	Het
Dnah5	G	A	15: 28,238,657 (GRCm39)	V400M	probably damaging	Het
Epc2	T	A	2: 49,412,588 (GRCm39)	S189T	probably benign	Het
Inpp4a	T	C	1: 37,428,823 (GRCm39)	S83P	probably benign	Het
Ints2	C	T	11: 86,123,911 (GRCm39)	G626R	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Mbtps1	T	C	8: 120,247,016 (GRCm39)	D809G	probably damaging	Het
Nbea	T	C	3: 55,912,202 (GRCm39)	E1195G	probably benign	Het
Nfasc	G	T	1: 132,538,526 (GRCm39)	P454T	probably damaging	Het
Nlrp4e	T	A	7: 23,052,763 (GRCm39)	I894N	possibly damaging	Het
Picalm	A	T	7: 89,814,757 (GRCm39)	R129*	probably null	Het
Pstpip1	A	G	9: 56,021,590 (GRCm39)	D38G	probably damaging	Het
Sec13	A	G	6: 113,714,956 (GRCm39)	S3P	probably damaging	Het
Shf	G	A	2: 122,199,163 (GRCm39)	P51S	probably damaging	Het
Sytl1	A	T	4: 132,983,426 (GRCm39)	L370Q	probably damaging	Het
Tenm2	T	A	11: 35,899,185 (GRCm39)	I2658F	possibly damaging	Het
Tmc5	A	G	7: 118,265,816 (GRCm39)	M769V	probably benign	Het
Tspan8	A	G	10: 115,685,287 (GRCm39)	I232V	probably damaging	Het
Wbp1	G	A	6: 83,096,584 (GRCm39)	T156I	probably benign	Het
Wfikkn2	T	C	11: 94,129,301 (GRCm39)	Y280C	probably damaging	Het
Xrcc6	A	T	15: 81,907,048 (GRCm39)	Q123H	possibly damaging	Het
Zfp526	T	C	7: 24,923,788 (GRCm39)	S16P	probably benign	Het

Other mutations in Plekhg3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01079:Plekhg3	APN	12	76,609,052 (GRCm39)	missense	possibly damaging	0.78
IGL01143:Plekhg3	APN	12	76,611,756 (GRCm39)	critical splice donor site	probably null
IGL02079:Plekhg3	APN	12	76,607,203 (GRCm39)	missense	probably benign	0.01
IGL02349:Plekhg3	APN	12	76,609,074 (GRCm39)	missense	probably damaging	1.00
IGL02442:Plekhg3	APN	12	76,625,127 (GRCm39)	missense	probably benign	0.01
IGL02570:Plekhg3	APN	12	76,625,019 (GRCm39)	missense	probably benign
flagging	UTSW	12	76,607,294 (GRCm39)	critical splice donor site	probably null
R0667_Plekhg3_072	UTSW	12	76,623,372 (GRCm39)	missense	probably damaging	1.00
trailing	UTSW	12	76,611,735 (GRCm39)	missense	probably benign	0.15
R0344:Plekhg3	UTSW	12	76,613,040 (GRCm39)	nonsense	probably null
R0667:Plekhg3	UTSW	12	76,623,372 (GRCm39)	missense	probably damaging	1.00
R1566:Plekhg3	UTSW	12	76,618,839 (GRCm39)	missense	possibly damaging	0.54
R1905:Plekhg3	UTSW	12	76,622,991 (GRCm39)	missense	probably benign	0.05
R2885:Plekhg3	UTSW	12	76,611,735 (GRCm39)	missense	probably benign	0.15
R2962:Plekhg3	UTSW	12	76,619,433 (GRCm39)	critical splice donor site	probably null
R3784:Plekhg3	UTSW	12	76,607,294 (GRCm39)	critical splice donor site	probably null
R3941:Plekhg3	UTSW	12	76,620,133 (GRCm39)	missense	probably damaging	0.98
R4056:Plekhg3	UTSW	12	76,612,021 (GRCm39)	missense	probably damaging	1.00
R4080:Plekhg3	UTSW	12	76,624,755 (GRCm39)	missense	probably benign	0.02
R4412:Plekhg3	UTSW	12	76,624,538 (GRCm39)	missense	probably damaging	0.96
R4413:Plekhg3	UTSW	12	76,624,538 (GRCm39)	missense	probably damaging	0.96
R4704:Plekhg3	UTSW	12	76,625,012 (GRCm39)	missense	probably damaging	1.00
R4720:Plekhg3	UTSW	12	76,625,096 (GRCm39)	missense	possibly damaging	0.59
R4738:Plekhg3	UTSW	12	76,623,688 (GRCm39)	missense	probably damaging	1.00
R4898:Plekhg3	UTSW	12	76,610,899 (GRCm39)	missense	probably damaging	1.00
R4994:Plekhg3	UTSW	12	76,612,311 (GRCm39)	missense	possibly damaging	0.68
R4999:Plekhg3	UTSW	12	76,612,021 (GRCm39)	missense	possibly damaging	0.95
R5484:Plekhg3	UTSW	12	76,625,174 (GRCm39)	missense	possibly damaging	0.76
R5591:Plekhg3	UTSW	12	76,607,066 (GRCm39)	missense	possibly damaging	0.80
R6019:Plekhg3	UTSW	12	76,624,715 (GRCm39)	nonsense	probably null
R6147:Plekhg3	UTSW	12	76,611,985 (GRCm39)	missense	probably damaging	0.96
R6272:Plekhg3	UTSW	12	76,623,619 (GRCm39)	missense	probably benign	0.00
R6482:Plekhg3	UTSW	12	76,622,778 (GRCm39)	missense	probably benign	0.01
R7081:Plekhg3	UTSW	12	76,625,019 (GRCm39)	missense	probably benign
R7349:Plekhg3	UTSW	12	76,611,339 (GRCm39)	missense	probably benign	0.45
R7439:Plekhg3	UTSW	12	76,623,259 (GRCm39)	missense	probably damaging	1.00
R7449:Plekhg3	UTSW	12	76,612,996 (GRCm39)	missense	probably damaging	0.98
R7879:Plekhg3	UTSW	12	76,612,343 (GRCm39)	missense	probably damaging	1.00
R8256:Plekhg3	UTSW	12	76,609,041 (GRCm39)	missense	probably damaging	0.98
R8298:Plekhg3	UTSW	12	76,623,852 (GRCm39)	missense	probably damaging	1.00
R8492:Plekhg3	UTSW	12	76,622,790 (GRCm39)	missense	probably benign
R8886:Plekhg3	UTSW	12	76,611,748 (GRCm39)	missense	possibly damaging	0.81
R9090:Plekhg3	UTSW	12	76,622,694 (GRCm39)	missense	probably benign
R9117:Plekhg3	UTSW	12	76,624,905 (GRCm39)	missense	probably benign
R9220:Plekhg3	UTSW	12	76,618,839 (GRCm39)	missense	probably benign	0.18
R9271:Plekhg3	UTSW	12	76,622,694 (GRCm39)	missense	probably benign
R9294:Plekhg3	UTSW	12	76,609,052 (GRCm39)	missense	possibly damaging	0.78
R9394:Plekhg3	UTSW	12	76,623,862 (GRCm39)	missense	probably damaging	0.99
R9468:Plekhg3	UTSW	12	76,607,009 (GRCm39)	missense	probably damaging	0.98
R9711:Plekhg3	UTSW	12	76,611,726 (GRCm39)	missense	possibly damaging	0.83
R9747:Plekhg3	UTSW	12	76,611,367 (GRCm39)	missense	probably damaging	1.00
X0062:Plekhg3	UTSW	12	76,620,117 (GRCm39)	missense	possibly damaging	0.89
Z1176:Plekhg3	UTSW	12	76,622,630 (GRCm39)	critical splice acceptor site	probably null
Z1177:Plekhg3	UTSW	12	76,625,102 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTTTGCTCCAGAATCTCCCCGAG -3'
(R):5'- AAGTGTGAGAAGCCAAGAGTCCCC -3'

Sequencing Primer
(F):5'- AGAATCTCCCCGAGGTGAC -3'
(R):5'- AAGAGTCCCCACTAGGCAGG -3'

Posted On

2014-01-29