Mutagenetix > Incidental Mutations

Incidental Mutation 'R5862:Plekhg1'

453972

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

043231-MU

Accession Numbers

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

Is this an essential gene?

Possibly non essential (E-score: 0.262) question?

Stock #

R5862 (G1)

Quality Score

123

Status

Not validated

Chromosome

Chromosomal Location

3740364-3967303 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 3937914 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 281 (T281M)

Ref Sequence

ENSEMBL: ENSMUSP00000114056 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042438
AA Change: T281M

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

SMART Domains

Protein: ENSMUSP00000040495
Gene: ENSMUSG00000040624
AA Change: T281M

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 damaging
Transcript: ENSMUST00000120274
AA Change: T281M

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

SMART Domains

Protein: ENSMUSP00000114056
Gene: ENSMUSG00000040624
AA Change: T281M

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: T336M

SMART Domains

Protein: ENSMUSP00000119950
Gene: ENSMUSG00000040624
AA Change: T336M

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

noncoding transcript
Transcript: ENSMUST00000137111

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144543

Predicted Effect

unknown
Transcript: ENSMUST00000154727
AA Change: T135M

SMART Domains

Protein: ENSMUSP00000122131
Gene: ENSMUSG00000040624
AA Change: T135M

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000158767

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,788,330	Y326H	probably damaging	Het
Alpk2	T	A	18: 65,307,289	K811N	probably damaging	Het
Ap3b1	T	A	13: 94,547,770	M1014K	unknown	Het
Bphl	G	A	13: 34,063,984	V247I	possibly damaging	Het
C6	A	T	15: 4,735,263	D147V	possibly damaging	Het
Clec18a	G	A	8: 111,081,558	H71Y	possibly damaging	Het
Cse1l	A	G	2: 166,915,207	T10A	probably benign	Het
Cyp2b9	G	T	7: 26,187,807	G214C	probably benign	Het
Dctn6	A	T	8: 34,108,417		probably null	Het
Dnaja4	G	T	9: 54,699,341		probably benign	Het
Dpp8	A	T	9: 65,045,722	S227C	probably benign	Het
Ecel1	T	C	1: 87,149,596	N630S	probably benign	Het
Etnppl	T	C	3: 130,631,824	V426A	possibly damaging	Het
Golgb1	A	T	16: 36,926,091		silent	Het
H2afy	T	A	13: 56,074,271	I359L	probably damaging	Het
Hapln3	A	T	7: 79,121,891	H83Q	possibly damaging	Het
Hmgxb4	A	G	8: 75,001,055	K222R	probably damaging	Het
Hsf5	C	A	11: 87,622,991	T294K	probably damaging	Het
Ighv12-2	A	G	12: 114,127,937		noncoding transcript	Het
Lrch3	A	T	16: 32,995,809	H587L	probably damaging	Het
Mboat1	C	T	13: 30,235,697	T339M	probably damaging	Het
Mief1	G	A	15: 80,248,385	R156Q	probably benign	Het
Ms4a6b	T	A	19: 11,521,803	F94I	probably benign	Het
Neb	T	A	2: 52,179,542	R307*	probably null	Het
Neu4	A	G	1: 94,022,930	I147V	probably benign	Het
Olfr1036	T	C	2: 86,075,646	I302T	probably benign	Het
Pcyox1	A	G	6: 86,391,674		probably null	Het
Pik3ap1	T	A	19: 41,332,345	D145V	probably damaging	Het
Pja2	T	C	17: 64,297,826	D454G	probably benign	Het
Ptprq	T	C	10: 107,565,878	I1918V	probably benign	Het
Rasgef1a	A	C	6: 118,080,444	R35S	probably benign	Het
Rnf167	A	G	11: 70,651,092	T308A	probably damaging	Het
Sfmbt2	C	T	2: 10,402,052	T54I	possibly damaging	Het
Sh3bp5	C	A	14: 31,377,495	R265L	probably benign	Het
Shkbp1	G	T	7: 27,343,404	S536*	probably null	Het
Taf2	C	A	15: 55,048,323	V566L	possibly damaging	Het
Tmed6	G	T	8: 107,064,154	T87K	probably damaging	Het
Tyms	A	T	5: 30,063,410	D97E	probably damaging	Het
Usp20	T	A	2: 31,006,449	L188*	probably null	Het
Zbtb10	T	A	3: 9,265,216	S545T	probably damaging	Het
Zscan29	G	T	2: 121,164,037	T489N	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	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
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

Predicted Primers

PCR Primer
(F):5'- ATGCGGTTAGGGTTAAACTTAAGG -3'
(R):5'- TGACCCATCTTCAGGGAGAC -3'

Sequencing Primer
(F):5'- GGGTTAAACTTAAGGAATGATGGTG -3'
(R):5'- CCTGGTGGGGAGGATCATAAATG -3'

Posted On

2017-02-10