Mutagenetix > Incidental Mutation

Incidental Mutation 'R5223:Plekhg4'

402432

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

042796-MU

Accession Numbers

Essential gene?

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

Stock #

R5223 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

105373274-105382862 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105378949 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 682 (N682S)

Ref Sequence

ENSEMBL: ENSMUSP00000150574 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014927] [ENSMUST00000063071] [ENSMUST00000159286] [ENSMUST00000160191] [ENSMUST00000160650] [ENSMUST00000167294] [ENSMUST00000168196] [ENSMUST00000214056]

AlphaFold

A0A1L1SU27

Predicted Effect

probably benign
Transcript: ENSMUST00000014927
AA Change: N646S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: N646S

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 benign
Transcript: ENSMUST00000160191
AA Change: N577S

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: N577S

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

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 benign
Transcript: ENSMUST00000214056
AA Change: N682S

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.2%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 120,013,452	V273M	possibly damaging	Het
Acin1	CCGC	CC	14: 54,642,941		probably null	Het
Acvr1b	T	A	15: 101,193,976	C46S	probably damaging	Het
Ahi1	A	T	10: 20,970,919	H416L	possibly damaging	Het
Aspm	T	A	1: 139,478,334	L1653Q	probably damaging	Het
Cacna1a	G	A	8: 84,587,195	V1533M	possibly damaging	Het
Ccdc33	C	T	9: 58,032,984	E502K	possibly damaging	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Cyp2a12	A	T	7: 27,036,463		probably null	Het
Ep400	A	G	5: 110,668,630	V2675A	probably damaging	Het
Foxh1	T	A	15: 76,668,729		probably null	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm10093	A	G	17: 78,492,438	E286G	probably benign	Het
Gm13078	T	A	4: 143,728,021	S296R	probably benign	Het
Gpnmb	C	T	6: 49,056,205	T539M	probably benign	Het
Hspa9	A	G	18: 34,952,671		probably null	Het
Hspg2	T	C	4: 137,543,914	L2454P	probably damaging	Het
Ift140	T	A	17: 25,035,812	I422N	probably benign	Het
Igkv6-32	T	C	6: 70,074,223	S50G	probably benign	Het
Il23r	T	A	6: 67,486,170	Y113F	probably benign	Het
Kcnt1	A	G	2: 25,903,422	D636G	probably benign	Het
Klhl41	G	A	2: 69,679,827	W569*	probably null	Het
Klra4	T	A	6: 130,062,147	D94V	probably damaging	Het
Lca5	T	A	9: 83,398,613	H378L	probably benign	Het
Lhx8	T	A	3: 154,321,644	T254S	probably damaging	Het
Lrch3	C	T	16: 32,914,397	R86W	probably damaging	Het
Lrp2	T	A	2: 69,524,053	N477I	probably damaging	Het
Man2a1	T	A	17: 64,712,271	I710K	probably benign	Het
Ncor1	A	T	11: 62,339,000	Y881N	probably damaging	Het
Nhsl1	T	A	10: 18,526,326	V1100E	probably damaging	Het
Olfr1208	T	C	2: 88,897,334	T88A	probably benign	Het
Olfr486	A	G	7: 108,172,708	V12A	probably benign	Het
Olfr855	T	C	9: 19,585,026	V163A	probably benign	Het
Oprk1	T	C	1: 5,589,296	V83A	probably benign	Het
Pacs1	C	T	19: 5,145,141	V472I	probably benign	Het
Pard3b	T	C	1: 62,344,113	Y789H	probably damaging	Het
Pcdha2	T	C	18: 36,940,791	Y492H	probably damaging	Het
Pcnt	T	C	10: 76,380,272	N2261D	probably damaging	Het
Pex5l	A	T	3: 32,958,796	S15T	probably damaging	Het
Poc5	A	T	13: 96,402,955	M335L	probably benign	Het
Polr1a	C	T	6: 71,967,907	R1316W	possibly damaging	Het
Pp2d1	T	C	17: 53,507,845	H617R	probably benign	Het
Prpsap1	T	C	11: 116,488,148	K65E	probably benign	Het
Ptgfrn	T	C	3: 101,045,593	E775G	probably benign	Het
Ptprc	T	A	1: 138,117,862	I87F	probably benign	Het
Rbbp8	C	A	18: 11,721,690	A324E	probably benign	Het
Rfx6	G	T	10: 51,677,996	G63*	probably null	Het
Rpl37a	T	C	1: 72,712,149	M47T	probably benign	Het
Samm50	T	G	15: 84,200,630	N187K	probably benign	Het
Skiv2l	A	G	17: 34,845,166		probably null	Het
Slamf9	T	C	1: 172,476,232	I48T	possibly damaging	Het
Slc2a12	A	G	10: 22,702,032	K576E	probably damaging	Het
Slc4a10	G	A	2: 62,253,366	G388S	probably damaging	Het
Smtn	G	T	11: 3,529,530	N512K	probably benign	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Sspo	A	G	6: 48,478,324	Y3040C	probably damaging	Het
Stat1	T	A	1: 52,144,242	V389E	probably damaging	Het
Sult5a1	A	T	8: 123,145,422	M227K	probably damaging	Het
Thsd4	T	C	9: 60,057,042	D389G	probably damaging	Het
Tnxb	T	C	17: 34,704,078	V2545A	possibly damaging	Het
Tpo	T	A	12: 30,092,590	I712F	probably damaging	Het
Trim62	T	C	4: 128,909,411	V418A	probably damaging	Het
Uqcrc1	C	A	9: 108,942,156	H95N	probably damaging	Het
Vmn2r114	ATTT	ATT	17: 23,290,932		probably null	Het
Vmn2r66	T	C	7: 85,007,885	D104G	probably benign	Het
Wdr26	T	C	1: 181,187,686	I371V	probably benign	Het
Wdr78	T	A	4: 103,049,403	S738C	possibly damaging	Het
Zfp273	T	G	13: 67,826,179	C475W	probably damaging	Het
Zfp738	G	T	13: 67,673,063	T55K	probably damaging	Het
Zmym2	A	G	14: 56,946,514	I978V	probably benign	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
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'- TACTGACAGAGCTGGAGCAG -3'
(R):5'- GTCAGAGCTGCCTGAAAGAG -3'

Sequencing Primer
(F):5'- AGCTGCACTGGACCAGAC -3'
(R):5'- AGGAGACGACCTGGGCC -3'

Posted On

2016-07-22