Mutagenetix > Incidental Mutation

Incidental Mutation 'R1961:Plekhg4'

317938

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

039975-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.217) question?

Stock #

R1961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105373274-105382862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105381464 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 982 (E982G)

Ref Sequence

ENSEMBL: ENSMUSP00000125249 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014927] [ENSMUST00000063071] [ENSMUST00000159286] [ENSMUST00000160191] [ENSMUST00000167294] [ENSMUST00000168196] [ENSMUST00000214056]

AlphaFold

A0A1L1SU27

Predicted Effect

probably damaging
Transcript: ENSMUST00000014927
AA Change: E1051G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: E1051G

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: ENSMUST00000063071

SMART Domains

Protein: ENSMUSP00000050687
Gene: ENSMUSG00000051648

Domain	Start	End	E-Value	Type
Pfam:BTB_2	15	92	1.3e-9	PFAM
internal_repeat_1	173	251	8.34e-9	PROSPERO
internal_repeat_1	429	509	8.34e-9	PROSPERO

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 damaging
Transcript: ENSMUST00000160191
AA Change: E982G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: E982G

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

noncoding transcript
Transcript: ENSMUST00000161672

Predicted Effect

probably benign
Transcript: ENSMUST00000167294

SMART Domains

Protein: ENSMUSP00000130831
Gene: ENSMUSG00000051648

Domain	Start	End	E-Value	Type
Pfam:BTB_2	15	93	3.9e-10	PFAM
internal_repeat_1	173	251	6.24e-9	PROSPERO
internal_repeat_1	406	486	6.24e-9	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000168196

Predicted Effect

probably damaging
Transcript: ENSMUST00000214056
AA Change: E1087G

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.1527

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (93/94)

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	G	6: 96,165,269	S265P	possibly damaging	Het
3110001I22Rik	T	A	16: 13,677,728	H230Q	probably benign	Het
Abcc1	T	C	16: 14,396,393	Y191H	probably damaging	Het
Abcc4	C	A	14: 118,611,456	G495C	probably damaging	Het
Abcc4	C	A	14: 118,611,459	V494L	possibly damaging	Het
Acsm4	T	C	7: 119,708,740	Y367H	probably benign	Het
Adam21	A	T	12: 81,559,508	Y493*	probably null	Het
Add2	T	C	6: 86,096,756	F209S	probably damaging	Het
Adgre4	T	C	17: 55,791,497	S136P	probably benign	Het
Aff4	T	G	11: 53,372,999	L282R	probably damaging	Het
Akt3	A	G	1: 177,096,995	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,041,015	Y174C	probably damaging	Het
Atl1	A	G	12: 69,953,500	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,644,525		probably null	Het
Btrc	T	G	19: 45,527,343	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,630,322	I1366N	probably benign	Het
Ccdc113	T	A	8: 95,540,831	N141K	probably benign	Het
Ccdc167	T	C	17: 29,704,431	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,313,646		probably benign	Het
Cenpe	A	G	3: 135,242,493	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,350,481	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,687,377	F230I	probably damaging	Het
Exog	A	G	9: 119,452,266	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,590,334	W30R	probably benign	Het
Fam172a	C	A	13: 77,902,720	H50N	probably benign	Het
Fndc3b	G	A	3: 27,456,451	Q841*	probably null	Het
Frzb	T	A	2: 80,424,601	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gabrb1	G	A	5: 71,700,336	R43Q	probably benign	Het
Gm21060	A	T	19: 61,297,007	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,511,044		noncoding transcript	Het
Gm5581	A	C	6: 131,168,162		noncoding transcript	Het
Gm9894	T	C	13: 67,763,915		noncoding transcript	Het
Gpr15	T	A	16: 58,718,007	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546		probably benign	Het
Grid2	T	C	6: 63,908,893	L91S	probably damaging	Het
Igsf5	A	C	16: 96,378,351	T215P	probably damaging	Het
Kif13a	G	A	13: 46,864,838		probably benign	Het
Kif21a	G	A	15: 90,970,848	A703V	probably damaging	Het
Kif27	T	G	13: 58,293,123	R1159S	probably benign	Het
Kifc2	T	A	15: 76,662,825	L226H	probably damaging	Het
Klf10	T	C	15: 38,295,996	H435R	probably damaging	Het
Masp1	T	C	16: 23,452,932	Y623C	probably damaging	Het
Megf10	T	A	18: 57,212,354	C118S	probably damaging	Het
Mical3	A	G	6: 120,982,607	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,398,475		probably null	Het
Mpeg1	G	A	19: 12,462,911	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,327,738	E553G	probably damaging	Het
Nmi	A	T	2: 51,948,620	S301T	probably benign	Het
Nr2f2	G	T	7: 70,358,155	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,197,098	N404S	probably damaging	Het
Olfr54	T	G	11: 51,027,475	S158A	probably benign	Het
Olfr594	T	C	7: 103,219,997	V93A	probably benign	Het
Oplah	G	A	15: 76,297,464	T1119I	probably damaging	Het
Otoa	T	A	7: 121,118,569	D336E	probably benign	Het
Pde4b	A	G	4: 102,597,460	E108G	probably damaging	Het
Pdgfrb	G	A	18: 61,061,505	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Pla2g3	C	T	11: 3,490,983	T316I	probably benign	Het
Pmfbp1	T	G	8: 109,530,144		probably benign	Het
Pot1b	A	T	17: 55,662,531	Y546N	probably damaging	Het
Rab11fip5	C	A	6: 85,348,991	Q144H	possibly damaging	Het
Reep3	A	T	10: 67,039,499		probably null	Het
Rgl2	T	C	17: 33,933,615	L400P	probably damaging	Het
Rnf122	A	G	8: 31,124,846		probably benign	Het
Scgb1b21	G	T	7: 33,527,378		noncoding transcript	Het
Sec63	A	T	10: 42,823,886	K647N	probably damaging	Het
Sema4a	C	T	3: 88,438,176		probably benign	Het
Serpinf1	C	T	11: 75,416,419	V31I	probably benign	Het
Sez6l	C	T	5: 112,424,615		probably benign	Het
Shank3	T	C	15: 89,557,964	S1612P	possibly damaging	Het
Slc19a3	G	A	1: 83,022,798	T166M	probably benign	Het
Slc22a29	C	A	19: 8,169,193	R415M	probably benign	Het
Slc38a11	A	T	2: 65,330,339	F304I	possibly damaging	Het
Slitrk1	T	A	14: 108,912,190	N363I	probably damaging	Het
Slx4ip	A	G	2: 137,067,681	T129A	probably benign	Het
Spop	T	C	11: 95,491,711	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,358,880	D147E	probably benign	Het
Tnpo1	T	C	13: 98,852,932	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,480,224	F45V	probably damaging	Het
Ttc27	T	A	17: 74,780,856	M472K	probably damaging	Het
Ttll7	A	G	3: 146,915,795		probably benign	Het
Ttn	A	T	2: 76,721,760	C22851S	probably benign	Het
Ttn	T	A	2: 76,798,212	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,640,262	T54A	probably benign	Het
Usp33	T	C	3: 152,380,628	V668A	probably damaging	Het
Vmn2r28	C	A	7: 5,481,071	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,798,095	M549L	probably benign	Het
Vwa5b2	T	C	16: 20,602,191		probably null	Het
Wnk1	T	C	6: 119,969,247	I648M	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
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
R8411:Plekhg4	UTSW	8	105377329	nonsense	probably null
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'- GGGACATTATGACACCTTTCCCAG -3'
(R):5'- CAAATGGGGCCACAGCAATG -3'

Sequencing Primer
(F):5'- CTTTCCCAGGGGCGGTTG -3'
(R):5'- GCCCTAGAGCGAACATCTGTATAAG -3'

Posted On

2015-05-19