Mutagenetix > Incidental Mutation

Incidental Mutation 'PIT4453001:Plekhg1'

555333

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

Accession Numbers

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

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

PIT4453001 (G1)

Quality Score

109.008

Status

Not validated

Chromosome

Chromosomal Location

3740364-3967303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 3963469 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 1119 (Q1119K)

Gene Model

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

AlphaFold

A0A5F8MPP0

Predicted Effect

probably benign
Transcript: ENSMUST00000042438
AA Change: Q1064K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: Q1064K

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: Q1064K

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: Q1064K

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

SMART Domains

Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: Q1119K

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

probably benign
Transcript: ENSMUST00000141367

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: Q918K

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

Coding Region Coverage

1x: 93.3%
3x: 90.9%
10x: 85.6%
20x: 74.1%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	G	3: 122,105,316	I649S	probably damaging	Het
Abcc2	T	A	19: 43,803,782	L334*	probably null	Het
Adam28	A	T	14: 68,634,876	S306T	probably benign	Het
Adam34	T	A	8: 43,651,312	D432V	probably damaging	Het
Adcy7	A	G	8: 88,323,636	Y723C	probably benign	Het
Adgre5	T	A	8: 83,724,460	M713L	probably benign	Het
Aebp2	C	A	6: 140,637,686	C295*	probably null	Het
Amn1	G	T	6: 149,170,859	Q127K	probably benign	Het
Atcay	C	T	10: 81,210,549	V314M	probably damaging	Het
Atp1a1	T	C	3: 101,581,179	E847G	probably benign	Het
Atp2b1	A	G	10: 99,016,978	E1039G	probably benign	Het
Caskin1	A	G	17: 24,499,292	Y292C	probably damaging	Het
Cftr	A	G	6: 18,214,106	T94A	probably damaging	Het
Ciart	T	A	3: 95,880,476	K182M	probably damaging	Het
Col1a2	A	C	6: 4,527,079	S603R	possibly damaging	Het
Cspp1	C	A	1: 10,074,872	S298R	possibly damaging	Het
Cul7	T	A	17: 46,651,820	C126S	probably damaging	Het
Cyp2c55	A	T	19: 39,011,791	I145F	probably damaging	Het
Cypt4	G	C	9: 24,625,474	A87P	probably damaging	Het
Disp2	G	A	2: 118,787,644	V224M	probably benign	Het
Dlgap5	TTC	T	14: 47,401,522		probably null	Het
Dock1	A	G	7: 135,152,300	K1602R	probably benign	Het
Ears2	T	C	7: 122,048,339	I241V	probably benign	Het
Eml6	T	C	11: 29,802,489	T975A	probably damaging	Het
Ephb2	T	C	4: 136,660,810	T660A	probably benign	Het
Fbxw7	G	A	3: 84,965,314	V268M		Het
Gart	A	G	16: 91,636,538	F289S	probably damaging	Het
Gmcl1	G	T	6: 86,704,538	N391K	probably benign	Het
Greb1l	A	C	18: 10,533,031	Q975P	probably damaging	Het
Greb1l	G	T	18: 10,533,032	Q975H	probably benign	Het
Grik5	C	A	7: 25,010,694	R872L	probably damaging	Het
Hmox2	T	A	16: 4,765,057	I218N	probably damaging	Het
Hook1	A	T	4: 96,014,852	D526V	probably damaging	Het
Ifna4	A	T	4: 88,841,954	N32Y	probably damaging	Het
Ighg2b	T	A	12: 113,306,872	N213Y	unknown	Het
Itih4	G	A	14: 30,901,170	V900I	probably benign	Het
Itpr2	A	T	6: 146,373,173	F837Y	probably damaging	Het
Kif3a	T	C	11: 53,579,114	V147A	probably benign	Het
Klra9	T	A	6: 130,191,321		probably benign	Het
Lamp3	G	T	16: 19,673,460	Q345K	probably benign	Het
Ltbp3	G	A	19: 5,757,794	E1188K	probably damaging	Het
Med1	T	A	11: 98,158,417	I518L	probably benign	Het
Mis18bp1	T	C	12: 65,158,673	T242A	probably damaging	Het
Nemp1	T	A	10: 127,696,254	F392Y	probably benign	Het
Obscn	C	A	11: 59,060,976	G3984W	probably damaging	Het
Obscn	T	A	11: 59,069,834	H3217L	possibly damaging	Het
Olfr1157	C	T	2: 87,962,458	V145M	possibly damaging	Het
Olfr1328	A	G	4: 118,934,626	M74T	probably benign	Het
Olfr1532-ps1	C	T	7: 106,914,929	H244Y	probably damaging	Het
Olfr709-ps1	T	C	7: 106,926,842	I206V	probably benign	Het
Olfr71	A	G	4: 43,706,464	Y35H	probably damaging	Het
P4ha1	G	T	10: 59,350,472	A258S	probably benign	Het
Parn	T	C	16: 13,607,281	I423V	probably benign	Het
Pcdh20	C	A	14: 88,467,308	S852I	probably damaging	Het
Pcnx3	A	G	19: 5,672,756		probably null	Het
Pcsk1	A	T	13: 75,112,650	I331F	probably damaging	Het
Pkd1l2	G	T	8: 117,022,022	S1803R	probably benign	Het
Pkd1l3	C	A	8: 109,660,801	N1792K	probably damaging	Het
Prr30	T	A	14: 101,198,935	T64S	probably benign	Het
Rec114	T	C	9: 58,660,370	N111S	probably benign	Het
Reck	G	A	4: 43,895,850	V79I	probably benign	Het
Rexo1	A	G	10: 80,550,397	F276L	probably damaging	Het
Rgs6	T	C	12: 83,091,779	Y296H	probably damaging	Het
Sdk1	A	G	5: 142,212,038	R2149G	probably benign	Het
Slc20a2	C	A	8: 22,535,382	F33L	probably damaging	Het
Spopl	T	A	2: 23,545,449	T25S	probably damaging	Het
Srcap	A	T	7: 127,549,320	I1947F	possibly damaging	Het
Srek1	A	C	13: 103,744,783		probably null	Het
St8sia1	C	T	6: 142,829,252	W200*	probably null	Het
Tas2r106	A	T	6: 131,678,502	F129I	possibly damaging	Het
Tbrg4	A	T	11: 6,620,857	L205Q	probably damaging	Het
Tchh	C	A	3: 93,445,880	R876S	unknown	Het
Thap12	G	T	7: 98,715,038	A138S	probably benign	Het
Tjp1	C	T	7: 65,343,614		probably null	Het
Traf4	G	A	11: 78,161,534	P95L	probably benign	Het
Trappc9	ATCTC	ATCTCTC	15: 73,031,598		probably null	Het
Usp20	G	A	2: 31,017,486	V677M	possibly damaging	Het
Usp50	C	A	2: 126,783,316		probably benign	Het
Vmn1r21	T	C	6: 57,844,322	T46A	probably benign	Het
Vmn2r54	T	A	7: 12,629,742	H408L	probably benign	Het
Zfp266	T	C	9: 20,506,003	T30A	probably benign	Het
Zfp536	T	C	7: 37,479,757	H1141R	probably benign	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
R0041:Plekhg1	UTSW	10	3964076	nonsense	probably null
R0041:Plekhg1	UTSW	10	3964074	missense	probably benign	0.02
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
R2421: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	3873127	missense	probably benign	0.00
R4772:Plekhg1	UTSW	10	3873130	missense	probably damaging	1.00
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	3957452	missense
R8167:Plekhg1	UTSW	10	3957453	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'- GGCATTTAGTGACTACTCCCC -3'
(R):5'- CTGATTGCTTTGCGACCCAG -3'

Sequencing Primer
(F):5'- CATTTAGTGACTACTCCCCTTTAATC -3'
(R):5'- AGAGGACTCTGACCTGAGTTC -3'

Posted On

2019-06-07