Mutagenetix > Incidental Mutation

Incidental Mutation 'R2421:Plekhg1'

249295

Institutional Source

Beutler Lab

Gene Symbol

Plekhg1

Ensembl Gene

ENSMUSG00000040624

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 1

Synonyms

D10Ertd733e

MMRRC Submission

040383-MU

Accession Numbers

Ncbi RefSeq: NM_001159942.1, NM_001033253.3; MGI:2676551

Is this an essential gene?

Probably non essential (E-score: 0.186) question?

Stock #

R2421 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

3740364-3967303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 3958048 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 988 (M988I)

Ref Sequence

ENSEMBL: ENSMUSP00000114056 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042438] [ENSMUST00000120274]

AlphaFold

A0A5F8MPP0

Predicted Effect

probably benign
Transcript: ENSMUST00000042438
AA Change: M988I

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: M988I

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
RhoGEF	116	291	4.17e-52	SMART
PH	323	417	2.54e-6	SMART
low complexity region	419	431	N/A	INTRINSIC
low complexity region	1151	1162	N/A	INTRINSIC
low complexity region	1186	1197	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000120274
AA Change: M988I

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: M988I

Domain	Start	End	E-Value	Type
low complexity region	11	30	N/A	INTRINSIC
RhoGEF	116	291	4.17e-52	SMART
PH	323	417	2.54e-6	SMART
low complexity region	419	431	N/A	INTRINSIC
low complexity region	1151	1162	N/A	INTRINSIC
low complexity region	1186	1197	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000136671
AA Change: M1043I

SMART Domains

Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: M1043I

Domain	Start	End	E-Value	Type
low complexity region	67	86	N/A	INTRINSIC
RhoGEF	172	347	4.17e-52	SMART
PH	379	473	2.54e-6	SMART
low complexity region	475	487	N/A	INTRINSIC
low complexity region	1207	1218	N/A	INTRINSIC
low complexity region	1242	1253	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000141367
AA Change: M52I

Predicted Effect

unknown
Transcript: ENSMUST00000154727
AA Change: M842I

SMART Domains

Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: M842I

Domain	Start	End	E-Value	Type
RhoGEF	4	146	2.25e-25	SMART
PH	178	272	2.54e-6	SMART
low complexity region	274	286	N/A	INTRINSIC
low complexity region	1006	1017	N/A	INTRINSIC
low complexity region	1041	1052	N/A	INTRINSIC

Meta Mutation Damage Score

0.0738

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.2%

Validation Efficiency

96% (81/84)

Allele List at MGI

All alleles(13) : Targeted(2) Gene trapped(11)

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700015F17Rik	T	C	5: 5,455,912	Y123C	probably benign	Het
2010300C02Rik	C	A	1: 37,613,475	V1084L	probably benign	Het
Abraxas1	C	T	5: 100,812,174	R104H	possibly damaging	Het
Adamts3	A	G	5: 89,683,175	S1007P	probably damaging	Het
Adcy10	T	A	1: 165,558,597	L1118Q	probably damaging	Het
Adgre4	A	G	17: 55,778,872	E57G	probably benign	Het
Alpk2	T	C	18: 65,306,616	S1036G	probably benign	Het
Ank3	T	C	10: 69,982,204		probably benign	Het
Ankfy1	T	A	11: 72,755,896		probably benign	Het
Antxrl	A	G	14: 34,071,689		probably benign	Het
Apaf1	A	T	10: 91,020,723	V874D	probably damaging	Het
Arhgap39	T	A	15: 76,725,146	T1025S	probably damaging	Het
Arhgef12	A	T	9: 43,001,006	C519S	probably damaging	Het
Aspm	G	A	1: 139,488,487	V1512M	possibly damaging	Het
Atp13a3	T	C	16: 30,349,825	T449A	probably benign	Het
Atxn2	A	T	5: 121,802,079		probably null	Het
Birc6	T	A	17: 74,660,614	L301Q	probably damaging	Het
Camk2d	A	G	3: 126,780,415	D157G	probably damaging	Het
Ccdc122	T	C	14: 77,091,663		probably benign	Het
Ccdc137	G	A	11: 120,462,264		probably null	Het
Ccdc18	A	C	5: 108,228,588	E1298D	probably damaging	Het
Col4a3	G	A	1: 82,670,275		probably benign	Het
Coq10b	G	A	1: 55,052,977	A35T	probably benign	Het
Creb3l3	T	C	10: 81,091,818	I47V	probably benign	Het
Csgalnact1	A	T	8: 68,461,508	I15N	probably benign	Het
Dcp1b	A	G	6: 119,215,266	Q381R	probably benign	Het
Dnajc21	A	G	15: 10,461,935	S127P	probably benign	Het
Dnal1	C	T	12: 84,136,706	Q80*	probably null	Het
Dtd2	A	G	12: 51,999,855	V67A	probably benign	Het
Gart	A	G	16: 91,643,040		probably null	Het
Gm17421	T	A	12: 113,369,487		noncoding transcript	Het
Gm6327	T	C	16: 12,760,094		noncoding transcript	Het
Gm8674	T	C	13: 49,900,663		noncoding transcript	Het
Gpr107	G	A	2: 31,185,529	G351S	probably damaging	Het
H2-M10.5	A	G	17: 36,774,999	I308V	probably benign	Het
Krt13	A	T	11: 100,120,051	L159Q	probably benign	Het
Krt78	T	C	15: 101,947,264	E704G	probably damaging	Het
Lama1	A	T	17: 67,750,553	M541L	probably benign	Het
Lenep	G	A	3: 89,402,574		probably null	Het
Lrp1b	T	C	2: 40,882,133		probably benign	Het
Ly6g6e	G	A	17: 35,078,146	R121Q	probably benign	Het
Lyn	C	T	4: 3,748,787	A255V	possibly damaging	Het
Mdn1	T	A	4: 32,723,621	I2519K	probably damaging	Het
Mmaa	T	A	8: 79,281,432	R59W	probably damaging	Het
Ms4a4b	A	G	19: 11,454,697	I61V	possibly damaging	Het
Ndufaf1	T	C	2: 119,655,737	E298G	probably damaging	Het
Olfr1219	T	C	2: 89,074,992	Y33C	possibly damaging	Het
Olfr175-ps1	T	C	16: 58,824,346	D121G	probably damaging	Het
Olfr178	T	C	16: 58,889,965	E85G	probably benign	Het
Olfr211	T	A	6: 116,493,713	C35S	probably benign	Het
Olfr975	A	G	9: 39,950,528	L81P	possibly damaging	Het
Pef1	C	A	4: 130,127,317	C221*	probably null	Het
Pnliprp1	T	A	19: 58,744,085	I460N	probably benign	Het
Ppfia4	T	C	1: 134,327,400	N239S	probably benign	Het
Ppp4r3a	A	G	12: 101,042,653		probably benign	Het
Prlr	T	A	15: 10,319,257	W91R	probably damaging	Het
Psmd2	T	A	16: 20,660,106		probably null	Het
Ptprt	T	A	2: 162,278,040		probably benign	Het
Rbm12b2	T	C	4: 12,095,127	F662S	possibly damaging	Het
Rgs6	C	A	12: 83,116,283	T421K	possibly damaging	Het
Ryr2	T	G	13: 11,591,237	Q4486H	probably damaging	Het
Scn7a	A	T	2: 66,726,302		probably benign	Het
Smc1a	A	G	X: 152,047,975		probably benign	Het
Synrg	A	G	11: 84,009,224	E674G	probably damaging	Het
Syt9	G	A	7: 107,436,781	R335K	probably benign	Het
Taar7a	T	C	10: 23,992,517	N322S	probably damaging	Het
Tfb2m	C	A	1: 179,533,666	W252C	possibly damaging	Het
Tmub2	T	A	11: 102,287,755	D161E	probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Tyw1	A	T	5: 130,269,260	H214L	probably damaging	Het
Tyw5	A	G	1: 57,396,748	I82T	possibly damaging	Het
Uba6	A	G	5: 86,132,616		probably null	Het
Unc13c	T	C	9: 73,931,547	Y674C	probably damaging	Het
Vangl2	T	C	1: 172,007,959	Y382C	probably damaging	Het
Vmn2r105	T	A	17: 20,227,835	R242S	probably benign	Het
Vmn2r12	A	G	5: 109,086,532	Y605H	probably benign	Het
Vps13a	T	G	19: 16,759,671	I101L	probably benign	Het
Washc4	T	A	10: 83,579,521	F792I	probably damaging	Het
Wdhd1	G	A	14: 47,258,584	H608Y	probably benign	Het
Wdr48	T	A	9: 119,902,404	I56K	probably damaging	Het
Xpo4	T	C	14: 57,629,503	D194G	probably benign	Het
Zfp644	A	G	5: 106,637,244	M479T	possibly damaging	Het
Zfp821	T	A	8: 109,709,533		probably null	Het
Zswim8	A	G	14: 20,719,457	Y1237C	probably damaging	Het

Other mutations in Plekhg1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01589:Plekhg1	APN	10	3963631	missense	probably benign	0.02
IGL01639:Plekhg1	APN	10	3956751	missense	probably damaging	0.98
IGL01766:Plekhg1	APN	10	3873400	missense	probably damaging	1.00
IGL01983:Plekhg1	APN	10	3945904	missense	probably damaging	1.00
IGL02226:Plekhg1	APN	10	3945916	missense	probably damaging	0.99
IGL02420:Plekhg1	APN	10	3964106	missense	probably damaging	1.00
IGL02441:Plekhg1	APN	10	3958103	missense	possibly damaging	0.89
IGL02505:Plekhg1	APN	10	3957139	missense	probably damaging	0.97
IGL02659:Plekhg1	APN	10	3957069	nonsense	probably null
IGL02730:Plekhg1	APN	10	3873242	missense	possibly damaging	0.59
BB006:Plekhg1	UTSW	10	3919170	missense	probably damaging	0.99
BB016:Plekhg1	UTSW	10	3919170	missense	probably damaging	0.99
PIT4453001:Plekhg1	UTSW	10	3963469	missense
R0041:Plekhg1	UTSW	10	3964074	missense	probably benign	0.02
R0041:Plekhg1	UTSW	10	3964076	nonsense	probably null
R0068:Plekhg1	UTSW	10	3940502	missense	probably damaging	0.99
R0068:Plekhg1	UTSW	10	3940504	nonsense	probably null
R0333:Plekhg1	UTSW	10	3964419	missense	probably damaging	1.00
R0427:Plekhg1	UTSW	10	3964235	missense	probably benign	0.01
R0499:Plekhg1	UTSW	10	3937971	missense	probably damaging	1.00
R0504:Plekhg1	UTSW	10	3937853	missense	probably damaging	1.00
R1499:Plekhg1	UTSW	10	3940538	splice site	probably benign
R1501:Plekhg1	UTSW	10	3957361	missense	probably benign	0.02
R1565:Plekhg1	UTSW	10	3940526	missense	probably damaging	1.00
R1801:Plekhg1	UTSW	10	3963904	missense	probably damaging	1.00
R1823:Plekhg1	UTSW	10	3903658	critical splice donor site	probably null
R1858:Plekhg1	UTSW	10	3945917	missense	possibly damaging	0.95
R1984:Plekhg1	UTSW	10	3958181	missense	probably damaging	1.00
R2420:Plekhg1	UTSW	10	3958048	missense	probably benign	0.39
R2422:Plekhg1	UTSW	10	3958048	missense	probably benign	0.39
R2437:Plekhg1	UTSW	10	3963564	missense	probably damaging	1.00
R2872:Plekhg1	UTSW	10	3963982	missense	probably benign
R2872:Plekhg1	UTSW	10	3963982	missense	probably benign
R3830:Plekhg1	UTSW	10	3873400	missense	probably damaging	1.00
R4058:Plekhg1	UTSW	10	3957087	missense	probably damaging	1.00
R4059:Plekhg1	UTSW	10	3957087	missense	probably damaging	1.00
R4649:Plekhg1	UTSW	10	3956985	missense	probably benign	0.00
R4731:Plekhg1	UTSW	10	3957506	missense	probably benign	0.01
R4732:Plekhg1	UTSW	10	3957506	missense	probably benign	0.01
R4733:Plekhg1	UTSW	10	3957506	missense	probably benign	0.01
R4772:Plekhg1	UTSW	10	3873130	missense	probably damaging	1.00
R4772:Plekhg1	UTSW	10	3873127	missense	probably benign	0.00
R4803:Plekhg1	UTSW	10	3957186	missense	probably benign	0.02
R5086:Plekhg1	UTSW	10	3903649	missense	probably damaging	1.00
R5175:Plekhg1	UTSW	10	3965516	unclassified	probably benign
R5283:Plekhg1	UTSW	10	3956654	missense	probably benign	0.00
R5862:Plekhg1	UTSW	10	3937914	missense	probably damaging	1.00
R6163:Plekhg1	UTSW	10	3964369	missense	probably damaging	1.00
R6564:Plekhg1	UTSW	10	3964153	missense	probably damaging	1.00
R6700:Plekhg1	UTSW	10	3957373	missense	probably benign
R6930:Plekhg1	UTSW	10	3963770	missense	possibly damaging	0.56
R7033:Plekhg1	UTSW	10	3940251	missense	probably damaging	0.97
R7200:Plekhg1	UTSW	10	3956810	missense
R7223:Plekhg1	UTSW	10	3873343	missense
R7353:Plekhg1	UTSW	10	3964327	missense
R7488:Plekhg1	UTSW	10	3957491	missense
R7554:Plekhg1	UTSW	10	3963647	missense
R7929:Plekhg1	UTSW	10	3919170	missense	probably damaging	0.99
R8014:Plekhg1	UTSW	10	3957758	missense
R8104:Plekhg1	UTSW	10	3952326	missense
R8167:Plekhg1	UTSW	10	3957453	missense
R8167:Plekhg1	UTSW	10	3957452	missense
R8215:Plekhg1	UTSW	10	3957521	missense
R8263:Plekhg1	UTSW	10	3957651	missense
R8682:Plekhg1	UTSW	10	3947523	missense
R8746:Plekhg1	UTSW	10	3957777	missense
R9148:Plekhg1	UTSW	10	3957527	missense
R9220:Plekhg1	UTSW	10	3963805	missense
R9245:Plekhg1	UTSW	10	3957141	missense
R9520:Plekhg1	UTSW	10	3956822	missense
R9778:Plekhg1	UTSW	10	3937966	missense

Predicted Primers

PCR Primer
(F):5'- GCCAACTGCTCCCTGGATAATG -3'
(R):5'- ACACGTGACTCTCGAGAAGG -3'

Sequencing Primer
(F):5'- GCTCCCTGGATAATGACATTATTTC -3'
(R):5'- CGTGACTCTCGAGAAGGAAGAAC -3'

Posted On

2014-11-12