Mutagenetix > Incidental Mutation

Incidental Mutation 'R8411:Plekhg4'

652683

Institutional Source

Beutler Lab

Gene Symbol

Plekhg4

Ensembl Gene

ENSMUSG00000014782

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 4

Synonyms

4931414L13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R8411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

105373274-105382862 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 105377329 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Stop codon at position 431 (W431*)

Ref Sequence

ENSEMBL: ENSMUSP00000150574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014927] [ENSMUST00000159286] [ENSMUST00000160191] [ENSMUST00000160650] [ENSMUST00000214056]

AlphaFold

A0A1L1SU27

Predicted Effect

probably null
Transcript: ENSMUST00000014927
AA Change: W395*

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: W395*

Domain	Start	End	E-Value	Type
low complexity region	364	377	N/A	INTRINSIC
low complexity region	440	451	N/A	INTRINSIC
low complexity region	463	475	N/A	INTRINSIC
low complexity region	535	547	N/A	INTRINSIC
low complexity region	559	577	N/A	INTRINSIC
low complexity region	653	664	N/A	INTRINSIC
low complexity region	701	718	N/A	INTRINSIC
RhoGEF	729	900	3.15e-29	SMART
PH	914	1022	1.44e-5	SMART
low complexity region	1148	1169	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159286

SMART Domains

Protein: ENSMUSP00000125556
Gene: ENSMUSG00000014782

Domain	Start	End	E-Value	Type
SCOP:d1aua_2	136	275	5e-9	SMART
Blast:SEC14	137	271	9e-8	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000160191
AA Change: W326*

SMART Domains

Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: W326*

Domain	Start	End	E-Value	Type
low complexity region	295	308	N/A	INTRINSIC
low complexity region	371	382	N/A	INTRINSIC
low complexity region	394	406	N/A	INTRINSIC
low complexity region	466	478	N/A	INTRINSIC
low complexity region	490	508	N/A	INTRINSIC
low complexity region	584	595	N/A	INTRINSIC
low complexity region	632	649	N/A	INTRINSIC
RhoGEF	660	831	3.15e-29	SMART
PH	845	953	1.44e-5	SMART
low complexity region	1079	1100	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160650

Predicted Effect

probably null
Transcript: ENSMUST00000214056
AA Change: W431*

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene can function as a guanine nucleotide exchange factor (GEF) and may play a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Polymorphisms in the region of this gene have been found to be associated with spinocerebellar ataxia in some study populations. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,137,722	S89P	probably benign	Het
Aatf	A	T	11: 84,470,676	M367K	probably benign	Het
Adam18	A	T	8: 24,652,127	I211N	probably damaging	Het
Angpt1	T	C	15: 42,427,034	Y478C	probably damaging	Het
Apba2	A	T	7: 64,736,926	I434F	probably damaging	Het
Arfgef1	T	A	1: 10,216,534	K50N	probably benign	Het
Arfgef2	A	T	2: 166,873,983	Q1397H	probably benign	Het
Ascc2	G	A	11: 4,647,208	R129Q	probably damaging	Het
Atxn1	A	G	13: 45,566,556	V621A	probably benign	Het
Catsperz	A	T	19: 6,922,562	L192M	probably benign	Het
Cd5	G	A	19: 10,720,221	P465S	probably damaging	Het
Cfap57	C	T	4: 118,614,931	V84I	probably benign	Het
Cfap61	A	G	2: 145,947,183	E94G	probably benign	Het
Chd1	A	G	17: 15,762,449	H1392R	probably damaging	Het
Csnk1a1	A	G	18: 61,555,817	I23V	probably benign	Het
Ctnnd2	C	T	15: 30,647,033	R292C	probably benign	Het
Dcaf6	T	A	1: 165,388,675	H453L	probably benign	Het
Dnah3	C	A	7: 120,011,030	D1728Y	probably damaging	Het
Dtx3	T	C	10: 127,192,824	K179E	possibly damaging	Het
Fam3b	T	A	16: 97,481,853	Y74F	probably benign	Het
Gm5464	T	C	14: 66,869,106	L64P	unknown	Het
Gm5624	T	G	14: 44,561,890	N70T		Het
Kcnh7	T	A	2: 62,764,608	H706L	probably damaging	Het
Kdm2b	C	T	5: 122,880,176	R1067H	probably damaging	Het
Klhl28	A	T	12: 64,950,090	H492Q	probably damaging	Het
Loxl3	T	A	6: 83,050,624	C716S	probably damaging	Het
Ltbp2	A	G	12: 84,786,413	Y1474H	probably damaging	Het
Mcm3	C	T	1: 20,816,756	V142I	probably benign	Het
Mmp24	G	T	2: 155,814,015	V458L	probably benign	Het
Mpl	C	A	4: 118,446,109	S502I		Het
Nfatc1	A	T	18: 80,667,042	V503D	probably damaging	Het
Nim1k	A	G	13: 119,714,271	I133T	possibly damaging	Het
Nr1d2	T	C	14: 18,215,031	Y327C	probably damaging	Het
Olfr1214	T	C	2: 88,988,065	T46A	probably benign	Het
Oma1	C	T	4: 103,328,916	R360*	probably null	Het
Oog2	T	A	4: 144,194,173	W59R	probably damaging	Het
Pcdh10	A	G	3: 45,379,539	E96G	probably damaging	Het
Pcna	T	A	2: 132,251,930	T98S	probably benign	Het
Pcnx3	C	T	19: 5,679,590	C899Y	possibly damaging	Het
Phf11d	T	C	14: 59,356,434	N97S	probably benign	Het
Plk4	A	G	3: 40,813,466	T815A	probably benign	Het
Pnma2	C	T	14: 66,916,313	T62I	possibly damaging	Het
Ppp1r9a	C	T	6: 5,057,568	R548W	probably damaging	Het
Ptx3	A	G	3: 66,224,780	S241G	probably benign	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rplp0	A	T	5: 115,560,764	K26N	probably damaging	Het
Sec62	A	C	3: 30,818,782	E338A	unknown	Het
Sema6a	T	C	18: 47,248,955	M842V	probably benign	Het
Serpina3j	T	C	12: 104,314,784	V72A	probably benign	Het
Siglecf	T	C	7: 43,351,944	F112S	probably damaging	Het
Slc29a4	A	G	5: 142,720,125	N455D	probably damaging	Het
Slc6a11	T	A	6: 114,131,437	F54Y	probably benign	Het
Spag6	G	A	2: 18,710,583	V80M	probably damaging	Het
Spic	T	C	10: 88,678,636	E34G	possibly damaging	Het
Tecpr2	A	G	12: 110,931,720	K469E	possibly damaging	Het
Them7	T	A	2: 105,297,845	L57Q	probably benign	Het
Tlr3	G	A	8: 45,396,941	A897V	probably damaging	Het
Tnp2	A	G	16: 10,788,508	C32R	possibly damaging	Het
Trpm6	A	T	19: 18,853,968	Q1399L	probably benign	Het
Ttn	C	A	2: 76,846,671	E11074*	probably null	Het
Ubash3b	G	A	9: 41,043,485	A243V	probably benign	Het
Vash1	G	A	12: 86,680,178	R64Q	possibly damaging	Het
Vmn1r167	T	A	7: 23,505,556	M12L	possibly damaging	Het
Vmn2r111	T	A	17: 22,548,581	H645L	probably benign	Het
Vmn2r75	A	T	7: 86,148,514	I697K	probably damaging	Het
Vmn2r87	A	G	10: 130,472,257	I704T	probably damaging	Het

Other mutations in Plekhg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Plekhg4	APN	8	105375738	missense	probably benign	0.01
IGL00970:Plekhg4	APN	8	105378435	missense	probably benign	0.02
IGL01784:Plekhg4	APN	8	105378957	missense	probably damaging	1.00
IGL02063:Plekhg4	APN	8	105379252	splice site	probably benign
IGL02371:Plekhg4	APN	8	105379059	splice site	probably null
IGL02984:Plekhg4	UTSW	8	105380388	missense	probably damaging	1.00
R0013:Plekhg4	UTSW	8	105375396	nonsense	probably null
R0105:Plekhg4	UTSW	8	105382012	missense	possibly damaging	0.65
R0105:Plekhg4	UTSW	8	105382012	missense	possibly damaging	0.65
R0631:Plekhg4	UTSW	8	105379302	missense	probably damaging	1.00
R1078:Plekhg4	UTSW	8	105381677	nonsense	probably null
R1201:Plekhg4	UTSW	8	105381673	missense	probably damaging	1.00
R1222:Plekhg4	UTSW	8	105379110	missense	probably benign	0.03
R1418:Plekhg4	UTSW	8	105379110	missense	probably benign	0.03
R1459:Plekhg4	UTSW	8	105381799	missense	probably damaging	0.98
R1465:Plekhg4	UTSW	8	105381040	splice site	probably benign
R1558:Plekhg4	UTSW	8	105381835	missense	possibly damaging	0.73
R1637:Plekhg4	UTSW	8	105381781	missense	probably benign	0.08
R1757:Plekhg4	UTSW	8	105381661	missense	probably damaging	0.99
R1922:Plekhg4	UTSW	8	105378385	missense	probably damaging	1.00
R1961:Plekhg4	UTSW	8	105381464	missense	probably damaging	0.99
R2074:Plekhg4	UTSW	8	105376452	small deletion	probably benign
R2113:Plekhg4	UTSW	8	105379434	missense	probably damaging	1.00
R2124:Plekhg4	UTSW	8	105376452	small deletion	probably benign
R2196:Plekhg4	UTSW	8	105376452	small deletion	probably benign
R2321:Plekhg4	UTSW	8	105377540	missense	probably benign	0.00
R2432:Plekhg4	UTSW	8	105381836	missense	probably benign	0.00
R2908:Plekhg4	UTSW	8	105380861	missense	probably damaging	1.00
R2910:Plekhg4	UTSW	8	105376452	small deletion	probably benign
R4179:Plekhg4	UTSW	8	105381398	missense	possibly damaging	0.93
R4180:Plekhg4	UTSW	8	105381398	missense	possibly damaging	0.93
R4513:Plekhg4	UTSW	8	105380402	missense	probably damaging	1.00
R4678:Plekhg4	UTSW	8	105380371	nonsense	probably null
R4946:Plekhg4	UTSW	8	105381996	missense	probably null	0.01
R5223:Plekhg4	UTSW	8	105378949	missense	probably benign	0.18
R5362:Plekhg4	UTSW	8	105381398	missense	possibly damaging	0.93
R5454:Plekhg4	UTSW	8	105376113	critical splice donor site	probably null
R5609:Plekhg4	UTSW	8	105379502	critical splice donor site	probably null
R5624:Plekhg4	UTSW	8	105380750	missense	probably damaging	0.99
R5806:Plekhg4	UTSW	8	105378910	missense	possibly damaging	0.85
R6297:Plekhg4	UTSW	8	105377840	missense	probably damaging	1.00
R7198:Plekhg4	UTSW	8	105378697	missense	probably damaging	1.00
R7443:Plekhg4	UTSW	8	105380867	missense	probably damaging	1.00
R7570:Plekhg4	UTSW	8	105378684	missense	possibly damaging	0.95
R7577:Plekhg4	UTSW	8	105375399	missense	probably benign
R7632:Plekhg4	UTSW	8	105380150	missense	probably damaging	1.00
R7782:Plekhg4	UTSW	8	105377767	missense	probably benign	0.14
R7958:Plekhg4	UTSW	8	105376649	missense	possibly damaging	0.86
R8239:Plekhg4	UTSW	8	105380914	nonsense	probably null
R8335:Plekhg4	UTSW	8	105376216	missense	probably damaging	0.97
R9011:Plekhg4	UTSW	8	105375652	missense	probably benign	0.23
R9017:Plekhg4	UTSW	8	105378700	missense	possibly damaging	0.85
R9255:Plekhg4	UTSW	8	105376639	missense	probably benign	0.00
R9297:Plekhg4	UTSW	8	105379275	missense	probably damaging	1.00
R9391:Plekhg4	UTSW	8	105379411	missense	probably damaging	1.00
R9524:Plekhg4	UTSW	8	105374766	missense	unknown
R9613:Plekhg4	UTSW	8	105380988	missense	probably damaging	1.00
R9683:Plekhg4	UTSW	8	105376291	missense	probably benign	0.00
Z1177:Plekhg4	UTSW	8	105374842	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ACAGTATGAAGGCACTGCGG -3'
(R):5'- TTGTGCTCTGACAGTCCTG -3'

Sequencing Primer
(F):5'- AGTGAGTGTCCCTCCCAAGTC -3'
(R):5'- GTTTCTCCACTCTGTTATGCTGGG -3'

Posted On

2020-10-20