Mutagenetix > Incidental Mutation

Incidental Mutation 'R4678:Plekhg4'

349773

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

041931-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.176) question?

Stock #

R4678 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106099906-106109494 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 106107003 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 899 (Y899*)

Ref Sequence

ENSEMBL: ENSMUSP00000150574 (fasta)

Gene Model

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

AlphaFold

A0A1L1SU27

Predicted Effect

probably null
Transcript: ENSMUST00000014927
AA Change: Y863*

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: Y863*

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 null
Transcript: ENSMUST00000160191
AA Change: Y794*

SMART Domains

Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: Y794*

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 null
Transcript: ENSMUST00000214056
AA Change: Y899*

Predicted Effect

probably benign
Transcript: ENSMUST00000168196

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 96.9%
20x: 94.1%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110025L11Rik	T	C	16: 88,860,873 (GRCm39)		probably benign	Het
Abcc4	A	G	14: 118,865,103 (GRCm39)	S308P	probably damaging	Het
Agr3	G	T	12: 35,997,832 (GRCm39)	V115L	probably damaging	Het
Ahr	A	T	12: 35,557,463 (GRCm39)	I319N	probably damaging	Het
Alpk1	A	T	3: 127,473,507 (GRCm39)	V832D	probably damaging	Het
Ano1	T	C	7: 144,223,289 (GRCm39)	T78A	probably benign	Het
Apob	G	A	12: 8,045,585 (GRCm39)	G897D	probably damaging	Het
Arfgef1	A	G	1: 10,212,891 (GRCm39)	F1677L	probably benign	Het
Arhgap40	G	T	2: 158,374,226 (GRCm39)	G217W	probably benign	Het
Arhgef4	A	G	1: 34,761,749 (GRCm39)	E335G	unknown	Het
Calcoco2	T	C	11: 95,994,374 (GRCm39)	T60A	probably damaging	Het
Catsperg1	A	T	7: 28,889,721 (GRCm39)	S741T	probably benign	Het
Ccdc181	T	G	1: 164,105,846 (GRCm39)	I27S	probably damaging	Het
Ceacam9	A	T	7: 16,459,334 (GRCm39)	Y211F	probably damaging	Het
Cep41	T	C	6: 30,671,318 (GRCm39)		probably null	Het
Cercam	T	A	2: 29,759,689 (GRCm39)	L45Q	probably damaging	Het
Cnnm2	G	A	19: 46,751,685 (GRCm39)	V492M	possibly damaging	Het
Cntn3	A	G	6: 102,180,981 (GRCm39)	V738A	probably damaging	Het
Coq8a	T	C	1: 179,997,646 (GRCm39)	E351G	probably damaging	Het
Cyp3a57	T	C	5: 145,307,538 (GRCm39)		probably null	Het
Dbn1	T	C	13: 55,623,071 (GRCm39)	I471V	probably benign	Het
Ddx21	G	T	10: 62,429,782 (GRCm39)	Q321K	probably benign	Het
Dhx8	T	C	11: 101,630,634 (GRCm39)	V347A	probably damaging	Het
Dkc1	A	G	X: 74,144,598 (GRCm39)	I215V	probably benign	Homo
Dlg2	A	G	7: 92,077,788 (GRCm39)	I685V	possibly damaging	Het
Dusp11	A	C	6: 85,930,363 (GRCm39)	N140K	probably damaging	Het
Ece2	A	G	16: 20,459,468 (GRCm39)	K454R	probably damaging	Het
Eno4	T	A	19: 58,935,181 (GRCm39)	V131E	probably damaging	Het
Enpep	A	G	3: 129,097,362 (GRCm39)		probably null	Het
Etv1	T	C	12: 38,885,219 (GRCm39)	Y236H	probably damaging	Het
F2rl2	A	G	13: 95,837,140 (GRCm39)	T62A	probably benign	Het
Fbxl21	T	C	13: 56,684,862 (GRCm39)	V296A	probably damaging	Het
Fig4	T	C	10: 41,148,994 (GRCm39)	I153V	probably benign	Het
Fis1	T	A	5: 136,991,951 (GRCm39)	N41K	possibly damaging	Het
Fras1	T	A	5: 96,848,427 (GRCm39)	M1814K	probably benign	Het
Frem2	T	A	3: 53,451,792 (GRCm39)	I2266F	probably benign	Het
Gm10330	A	T	12: 23,829,843 (GRCm39)	*113R	probably null	Het
Gm12185	T	A	11: 48,806,367 (GRCm39)	I275F	probably benign	Het
Gsdme	A	T	6: 50,206,304 (GRCm39)	C180S	possibly damaging	Het
Herc1	A	G	9: 66,323,551 (GRCm39)	E1355G	probably benign	Het
Hnrnpm	A	T	17: 33,869,185 (GRCm39)	I453N	possibly damaging	Het
Hspb9	T	C	11: 100,604,896 (GRCm39)	L74P	probably damaging	Het
Ift46	C	A	9: 44,695,260 (GRCm39)	Y85*	probably null	Het
Insyn2b	T	G	11: 34,353,227 (GRCm39)	L423R	probably damaging	Het
Ints3	T	C	3: 90,315,817 (GRCm39)	T316A	possibly damaging	Het
Isg20	C	T	7: 78,564,076 (GRCm39)		probably benign	Het
Itga11	T	A	9: 62,642,639 (GRCm39)	N187K	probably damaging	Het
Klhl9	G	A	4: 88,639,161 (GRCm39)	T360I	probably damaging	Het
Krt39	T	A	11: 99,411,826 (GRCm39)	I87F	probably benign	Het
Krtap19-4	G	A	16: 88,681,734 (GRCm39)	S74F	unknown	Het
Lgi1	G	A	19: 38,289,737 (GRCm39)	V268I	probably damaging	Het
Lrrc46	G	A	11: 96,925,719 (GRCm39)	P248S	probably benign	Het
Lrrn4	C	T	2: 132,721,488 (GRCm39)	V110I	probably benign	Het
Mamstr	C	A	7: 45,294,116 (GRCm39)		probably benign	Het
Micu3	T	A	8: 40,833,718 (GRCm39)	F451I	probably damaging	Het
Mid1	C	A	X: 168,768,044 (GRCm39)	D130E	possibly damaging	Het
Mkks	T	C	2: 136,722,201 (GRCm39)	T319A	probably benign	Het
Mob3c	A	G	4: 115,690,968 (GRCm39)		probably null	Het
Muc6	T	C	7: 141,230,554 (GRCm39)	E1192G	probably benign	Het
Ndc80	A	G	17: 71,827,753 (GRCm39)		probably null	Het
Nfx1	A	G	4: 41,012,070 (GRCm39)	K807E	probably benign	Het
Nrxn1	A	T	17: 90,930,850 (GRCm39)	L181Q	probably damaging	Het
Nsun7	A	G	5: 66,418,407 (GRCm39)	S46G	probably benign	Het
Nup98	A	T	7: 101,834,038 (GRCm39)	L308H	probably damaging	Het
Or4c115	C	A	2: 88,927,860 (GRCm39)	W137L	probably benign	Het
Or52j3	T	C	7: 102,836,098 (GRCm39)	F97L	probably damaging	Het
Or6f2	T	C	7: 139,756,141 (GRCm39)	V36A	probably benign	Het
Or8k32	T	C	2: 86,369,077 (GRCm39)	M61V	possibly damaging	Het
Palb2	T	C	7: 121,726,589 (GRCm39)	K427R	probably damaging	Het
Pcdha1	C	A	18: 37,063,965 (GRCm39)	Q210K	probably benign	Het
Pcdhb2	T	C	18: 37,429,260 (GRCm39)	L411P	probably damaging	Het
Pde4dip	C	A	3: 97,602,321 (GRCm39)	D2252Y	probably damaging	Het
Plxnb2	G	T	15: 89,045,131 (GRCm39)	T1105K	probably benign	Het
Psmd2	T	C	16: 20,478,719 (GRCm39)	V606A	probably damaging	Het
Ptprq	A	T	10: 107,521,043 (GRCm39)	F710I	probably benign	Het
Rad51ap2	A	G	12: 11,506,552 (GRCm39)	E158G	probably damaging	Het
Rasip1	T	A	7: 45,277,247 (GRCm39)	H18Q	possibly damaging	Het
Rassf8	A	G	6: 145,760,808 (GRCm39)	K45E	probably damaging	Het
Rrn3	T	A	16: 13,613,940 (GRCm39)	M284K	probably damaging	Het
Rsf1	GGCG	GGCGACGGCTGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Rtn2	C	A	7: 19,027,820 (GRCm39)	N403K	probably damaging	Het
Rusc1	A	G	3: 88,997,027 (GRCm39)	W462R	probably damaging	Het
Sdc3	T	A	4: 130,545,907 (GRCm39)		probably benign	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc12a2	T	A	18: 58,039,032 (GRCm39)	C537*	probably null	Het
Slc4a2	G	A	5: 24,639,238 (GRCm39)		probably null	Het
Spsb4	T	A	9: 96,877,744 (GRCm39)	D193V	probably damaging	Het
Strn	A	C	17: 78,984,780 (GRCm39)	F288V	probably damaging	Het
Stx18	G	A	5: 38,293,712 (GRCm39)		probably benign	Het
Tfcp2l1	T	A	1: 118,596,378 (GRCm39)	M371K	probably benign	Het
Thnsl1	A	G	2: 21,216,352 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,439 (GRCm39)	H142Y	possibly damaging	Het
Tor1aip2	T	A	1: 155,940,780 (GRCm39)	I362K	probably damaging	Het
Trmt13	T	C	3: 116,383,404 (GRCm39)	K125E	probably damaging	Het
Trpm8	T	C	1: 88,264,851 (GRCm39)	V320A	probably benign	Het
Ubr3	A	T	2: 69,766,263 (GRCm39)	H377L	probably damaging	Het
Usp8	A	G	2: 126,567,349 (GRCm39)	R123G	probably null	Het
Vim	T	A	2: 13,579,775 (GRCm39)	L178Q	probably damaging	Het
Vmn1r231	A	C	17: 21,110,489 (GRCm39)	V142G	possibly damaging	Het
Vmn1r83	A	G	7: 12,055,697 (GRCm39)	M120T	possibly damaging	Het
Vwce	G	T	19: 10,642,012 (GRCm39)	V913F	possibly damaging	Het
Zbtb18	C	A	1: 177,275,285 (GRCm39)	T215K	probably benign	Het
Zeb2	A	T	2: 44,886,353 (GRCm39)	D857E	probably damaging	Het
Zfp106	G	A	2: 120,364,221 (GRCm39)	H729Y	probably damaging	Het
Zfp977	C	A	7: 42,229,437 (GRCm39)	A363S	probably benign	Het

Other mutations in Plekhg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Plekhg4	APN	8	106,102,370 (GRCm39)	missense	probably benign	0.01
IGL00970:Plekhg4	APN	8	106,105,067 (GRCm39)	missense	probably benign	0.02
IGL01784:Plekhg4	APN	8	106,105,589 (GRCm39)	missense	probably damaging	1.00
IGL02063:Plekhg4	APN	8	106,105,884 (GRCm39)	splice site	probably benign
IGL02371:Plekhg4	APN	8	106,105,691 (GRCm39)	splice site	probably null
IGL02984:Plekhg4	UTSW	8	106,107,020 (GRCm39)	missense	probably damaging	1.00
R0013:Plekhg4	UTSW	8	106,102,028 (GRCm39)	nonsense	probably null
R0105:Plekhg4	UTSW	8	106,108,644 (GRCm39)	missense	possibly damaging	0.65
R0105:Plekhg4	UTSW	8	106,108,644 (GRCm39)	missense	possibly damaging	0.65
R0631:Plekhg4	UTSW	8	106,105,934 (GRCm39)	missense	probably damaging	1.00
R1078:Plekhg4	UTSW	8	106,108,309 (GRCm39)	nonsense	probably null
R1201:Plekhg4	UTSW	8	106,108,305 (GRCm39)	missense	probably damaging	1.00
R1222:Plekhg4	UTSW	8	106,105,742 (GRCm39)	missense	probably benign	0.03
R1418:Plekhg4	UTSW	8	106,105,742 (GRCm39)	missense	probably benign	0.03
R1459:Plekhg4	UTSW	8	106,108,431 (GRCm39)	missense	probably damaging	0.98
R1465:Plekhg4	UTSW	8	106,107,672 (GRCm39)	splice site	probably benign
R1558:Plekhg4	UTSW	8	106,108,467 (GRCm39)	missense	possibly damaging	0.73
R1637:Plekhg4	UTSW	8	106,108,413 (GRCm39)	missense	probably benign	0.08
R1757:Plekhg4	UTSW	8	106,108,293 (GRCm39)	missense	probably damaging	0.99
R1922:Plekhg4	UTSW	8	106,105,017 (GRCm39)	missense	probably damaging	1.00
R1961:Plekhg4	UTSW	8	106,108,096 (GRCm39)	missense	probably damaging	0.99
R2074:Plekhg4	UTSW	8	106,103,084 (GRCm39)	small deletion	probably benign
R2113:Plekhg4	UTSW	8	106,106,066 (GRCm39)	missense	probably damaging	1.00
R2124:Plekhg4	UTSW	8	106,103,084 (GRCm39)	small deletion	probably benign
R2196:Plekhg4	UTSW	8	106,103,084 (GRCm39)	small deletion	probably benign
R2321:Plekhg4	UTSW	8	106,104,172 (GRCm39)	missense	probably benign	0.00
R2432:Plekhg4	UTSW	8	106,108,468 (GRCm39)	missense	probably benign	0.00
R2908:Plekhg4	UTSW	8	106,107,493 (GRCm39)	missense	probably damaging	1.00
R2910:Plekhg4	UTSW	8	106,103,084 (GRCm39)	small deletion	probably benign
R4179:Plekhg4	UTSW	8	106,108,030 (GRCm39)	missense	possibly damaging	0.93
R4180:Plekhg4	UTSW	8	106,108,030 (GRCm39)	missense	possibly damaging	0.93
R4513:Plekhg4	UTSW	8	106,107,034 (GRCm39)	missense	probably damaging	1.00
R4946:Plekhg4	UTSW	8	106,108,628 (GRCm39)	missense	probably null	0.01
R5223:Plekhg4	UTSW	8	106,105,581 (GRCm39)	missense	probably benign	0.18
R5362:Plekhg4	UTSW	8	106,108,030 (GRCm39)	missense	possibly damaging	0.93
R5454:Plekhg4	UTSW	8	106,102,745 (GRCm39)	critical splice donor site	probably null
R5609:Plekhg4	UTSW	8	106,106,134 (GRCm39)	critical splice donor site	probably null
R5624:Plekhg4	UTSW	8	106,107,382 (GRCm39)	missense	probably damaging	0.99
R5806:Plekhg4	UTSW	8	106,105,542 (GRCm39)	missense	possibly damaging	0.85
R6297:Plekhg4	UTSW	8	106,104,472 (GRCm39)	missense	probably damaging	1.00
R7198:Plekhg4	UTSW	8	106,105,329 (GRCm39)	missense	probably damaging	1.00
R7443:Plekhg4	UTSW	8	106,107,499 (GRCm39)	missense	probably damaging	1.00
R7570:Plekhg4	UTSW	8	106,105,316 (GRCm39)	missense	possibly damaging	0.95
R7577:Plekhg4	UTSW	8	106,102,031 (GRCm39)	missense	probably benign
R7632:Plekhg4	UTSW	8	106,106,782 (GRCm39)	missense	probably damaging	1.00
R7782:Plekhg4	UTSW	8	106,104,399 (GRCm39)	missense	probably benign	0.14
R7958:Plekhg4	UTSW	8	106,103,281 (GRCm39)	missense	possibly damaging	0.86
R8239:Plekhg4	UTSW	8	106,107,546 (GRCm39)	nonsense	probably null
R8335:Plekhg4	UTSW	8	106,102,848 (GRCm39)	missense	probably damaging	0.97
R8411:Plekhg4	UTSW	8	106,103,961 (GRCm39)	nonsense	probably null
R9011:Plekhg4	UTSW	8	106,102,284 (GRCm39)	missense	probably benign	0.23
R9017:Plekhg4	UTSW	8	106,105,332 (GRCm39)	missense	possibly damaging	0.85
R9255:Plekhg4	UTSW	8	106,103,271 (GRCm39)	missense	probably benign	0.00
R9297:Plekhg4	UTSW	8	106,105,907 (GRCm39)	missense	probably damaging	1.00
R9391:Plekhg4	UTSW	8	106,106,043 (GRCm39)	missense	probably damaging	1.00
R9524:Plekhg4	UTSW	8	106,101,398 (GRCm39)	missense	unknown
R9613:Plekhg4	UTSW	8	106,107,620 (GRCm39)	missense	probably damaging	1.00
R9683:Plekhg4	UTSW	8	106,102,923 (GRCm39)	missense	probably benign	0.00
Z1177:Plekhg4	UTSW	8	106,101,474 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CCTTCTTTAAGGTAGGAGCCAG -3'
(R):5'- GTTTACCTGCAGAGTCGAAGC -3'

Sequencing Primer
(F):5'- CTTCTTTAAGGTAGGAGCCAGAGACC -3'
(R):5'- TGCAGAGTCGAAGCCCTTAG -3'

Posted On

2015-10-08