Mutagenetix > Incidental Mutation

Incidental Mutation 'R1465:Plekhg4'

201072

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

039519-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R1465 (G1)

Quality Score

159

Status

Not validated

Chromosome

Chromosomal Location

106099906-106109494 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 106107672 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150574 (fasta)

Gene Model

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

AlphaFold

A0A1L1SU27

Predicted Effect

probably benign
Transcript: ENSMUST00000014927

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782

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

SMART Domains

Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782

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 benign
Transcript: ENSMUST00000214056

Coding Region Coverage

1x: 97.3%
3x: 96.5%
10x: 93.6%
20x: 86.6%

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
2310030G06Rik	A	G	9: 50,651,866 (GRCm39)	Y121H	probably damaging	Het
Abca13	G	T	11: 9,349,303 (GRCm39)	G3626W	probably damaging	Het
Acvr1c	A	G	2: 58,174,973 (GRCm39)	Y192H	probably damaging	Het
Afm	A	T	5: 90,698,200 (GRCm39)	D534V	probably damaging	Het
Agl	T	C	3: 116,565,021 (GRCm39)	E1076G	probably benign	Het
Ahcyl	T	C	16: 45,974,211 (GRCm39)	K389E	probably benign	Het
Angptl3	A	T	4: 98,925,757 (GRCm39)	H361L	probably benign	Het
Apob	T	C	12: 8,061,421 (GRCm39)	F3301S	possibly damaging	Het
Arhgef33	T	A	17: 80,674,730 (GRCm39)	C376S	possibly damaging	Het
Ass1	A	G	2: 31,410,428 (GRCm39)	*413W	probably null	Het
Atp6v1h	T	A	1: 5,165,911 (GRCm39)	L127Q	probably damaging	Het
Bcl2l1	G	A	2: 152,671,870 (GRCm39)	S14F	probably damaging	Het
Bhmt1b	T	G	18: 87,775,382 (GRCm39)	F302V	probably damaging	Het
Birc6	G	A	17: 74,930,853 (GRCm39)	A2477T	probably benign	Het
Bpifb9a	G	A	2: 154,112,941 (GRCm39)	A589T	possibly damaging	Het
Casp9	C	A	4: 141,533,151 (GRCm39)	T252K	probably benign	Het
Cct4	G	A	11: 22,952,922 (GRCm39)	D533N	probably damaging	Het
Clcn6	A	C	4: 148,098,358 (GRCm39)	I555S	probably damaging	Het
Col4a4	A	T	1: 82,475,543 (GRCm39)		probably null	Het
Cyp2d10	A	T	15: 82,288,129 (GRCm39)		probably null	Het
D930048N14Rik	A	G	11: 51,545,740 (GRCm39)		probably benign	Het
Dhfr	A	G	13: 92,504,815 (GRCm39)		probably benign	Het
Dlg5	T	C	14: 24,204,764 (GRCm39)		probably null	Het
Dnah11	T	C	12: 118,002,430 (GRCm39)	E2240G	probably damaging	Het
Dnmt3a	A	G	12: 3,916,088 (GRCm39)	E17G	probably damaging	Het
Dock1	A	G	7: 134,384,138 (GRCm39)	T670A	probably benign	Het
Dpy19l2	A	G	9: 24,580,618 (GRCm39)	M241T	probably benign	Het
Dpy19l4	A	G	4: 11,296,034 (GRCm39)	S212P	probably damaging	Het
Ephb6	T	C	6: 41,593,040 (GRCm39)	F426S	probably damaging	Het
F5	A	T	1: 164,026,402 (GRCm39)	D1658V	probably benign	Het
Faah	A	T	4: 115,856,755 (GRCm39)	V469E	probably damaging	Het
Fas	T	C	19: 34,294,013 (GRCm39)	C123R	probably damaging	Het
Fhod1	T	C	8: 106,065,546 (GRCm39)		probably benign	Het
Filip1	A	G	9: 79,805,589 (GRCm39)	V55A	probably benign	Het
Frmpd1	G	A	4: 45,273,197 (GRCm39)	R372Q	probably damaging	Het
Glyctk	C	T	9: 106,034,806 (GRCm39)	G87S	probably damaging	Het
Golga3	T	C	5: 110,357,744 (GRCm39)	L1080P	probably damaging	Het
Gpr137	T	C	19: 6,915,812 (GRCm39)	T281A	probably benign	Het
Grap2	T	A	15: 80,532,612 (GRCm39)		probably null	Het
Hlcs	T	C	16: 94,069,151 (GRCm39)	D170G	probably damaging	Het
Hook1	A	G	4: 95,901,493 (GRCm39)	T484A	probably benign	Het
Hoxa5	T	A	6: 52,180,771 (GRCm39)	H187L	probably benign	Het
Inpp1	G	T	1: 52,829,253 (GRCm39)	S255R	probably benign	Het
Inpp4b	T	A	8: 82,494,786 (GRCm39)	V67E	probably damaging	Het
Iqgap3	A	G	3: 87,994,616 (GRCm39)	N105S	probably damaging	Het
Kcnq5	A	G	1: 21,539,692 (GRCm39)		probably null	Het
Klhl1	T	C	14: 96,477,649 (GRCm39)	N473S	probably benign	Het
Klk1b24	C	A	7: 43,840,785 (GRCm39)	T71N	probably benign	Het
Loxhd1	A	G	18: 77,468,269 (GRCm39)		probably null	Het
Lrp1b	C	T	2: 41,001,071 (GRCm39)	R2165Q	probably benign	Het
Lrp2bp	A	T	8: 46,478,272 (GRCm39)	Q328L	possibly damaging	Het
Lrrc63	T	A	14: 75,344,829 (GRCm39)	K419N	possibly damaging	Het
Lrrc9	A	G	12: 72,547,533 (GRCm39)	N150S	probably benign	Het
Lrrn4	C	A	2: 132,713,995 (GRCm39)	C317F	probably damaging	Het
Ltbp2	T	C	12: 84,860,074 (GRCm39)	S627G	probably damaging	Het
Macf1	A	T	4: 123,386,947 (GRCm39)	S1224T	probably damaging	Het
Meis2	A	C	2: 115,889,151 (GRCm39)	H200Q	probably benign	Het
Mesd	C	A	7: 83,544,790 (GRCm39)	A80E	probably benign	Het
Mtor	G	T	4: 148,610,450 (GRCm39)		probably benign	Het
Myo3a	T	C	2: 22,467,939 (GRCm39)	F398L	probably benign	Het
Nagpa	G	T	16: 5,019,392 (GRCm39)		probably benign	Het
Nanp	A	G	2: 150,872,749 (GRCm39)	C60R	probably benign	Het
Nectin2	T	G	7: 19,464,041 (GRCm39)	M313L	probably benign	Het
Nek4	C	T	14: 30,678,844 (GRCm39)	H123Y	probably damaging	Het
Nploc4	A	G	11: 120,299,607 (GRCm39)	V371A	probably damaging	Het
Ntrk3	T	C	7: 78,005,762 (GRCm39)		probably benign	Het
Or11g7	A	G	14: 50,690,634 (GRCm39)	T42A	possibly damaging	Het
Or13c7b	A	G	4: 43,820,723 (GRCm39)	F213L	probably benign	Het
Or52n4	T	C	7: 104,294,153 (GRCm39)	N140S	probably benign	Het
Or5b109	T	A	19: 13,212,265 (GRCm39)	V217E	possibly damaging	Het
Pcdh20	T	A	14: 88,706,673 (GRCm39)	Q209L	probably benign	Het
Pcdhb20	G	A	18: 37,637,750 (GRCm39)	R92H	probably damaging	Het
Pgap1	T	C	1: 54,567,714 (GRCm39)	H377R	probably benign	Het
Phyhipl	G	T	10: 70,406,798 (GRCm39)	P52Q	probably damaging	Het
Pwwp2a	T	A	11: 43,596,383 (GRCm39)	V516E	possibly damaging	Het
Rack1	T	C	11: 48,692,586 (GRCm39)	V69A	probably damaging	Het
Rexo5	T	A	7: 119,400,581 (GRCm39)		probably null	Het
Rnf123	T	C	9: 107,948,665 (GRCm39)		probably benign	Het
Rock1	G	T	18: 10,072,863 (GRCm39)	Q1161K	possibly damaging	Het
Rps6ka2	T	C	17: 7,560,266 (GRCm39)	L568P	probably damaging	Het
Seh1l	T	C	18: 67,917,054 (GRCm39)	S78P	probably damaging	Het
Serpinb3b	A	T	1: 107,083,573 (GRCm39)		probably null	Het
Setd1a	T	C	7: 127,387,512 (GRCm39)		probably benign	Het
Setx	G	T	2: 29,030,401 (GRCm39)		probably null	Het
Sh3bp1	T	C	15: 78,791,545 (GRCm39)		probably benign	Het
Shc2	G	T	10: 79,467,136 (GRCm39)	R146S	probably damaging	Het
Skap2	T	C	6: 51,886,348 (GRCm39)	T5A	probably benign	Het
Skor2	A	T	18: 76,964,340 (GRCm39)		probably benign	Het
Slc35a3	T	C	3: 116,480,983 (GRCm39)	I93M	probably benign	Het
Sohlh1	C	T	2: 25,733,359 (GRCm39)	G295D	probably damaging	Het
Speg	A	G	1: 75,405,128 (GRCm39)		probably benign	Het
Sult2a8	A	C	7: 14,150,208 (GRCm39)	C168G	probably benign	Het
Tax1bp1	T	C	6: 52,704,179 (GRCm39)		probably benign	Het
Tbc1d4	T	C	14: 101,685,124 (GRCm39)	I1176V	possibly damaging	Het
Tcof1	A	G	18: 60,952,026 (GRCm39)		probably benign	Het
Thada	A	T	17: 84,744,104 (GRCm39)	F735I	possibly damaging	Het
Tle1	A	C	4: 72,058,068 (GRCm39)	H52Q	probably damaging	Het
Tmem101	A	T	11: 102,044,155 (GRCm39)	V244E	probably damaging	Het
Tnfrsf26	C	A	7: 143,171,668 (GRCm39)	C95F	probably damaging	Het
Uspl1	T	C	5: 149,150,842 (GRCm39)	S482P	probably benign	Het
Vmn2r118	G	T	17: 55,917,935 (GRCm39)	N192K	probably benign	Het
Vmn2r14	C	T	5: 109,368,195 (GRCm39)	V266I	possibly damaging	Het
Vmn2r51	A	G	7: 9,834,249 (GRCm39)	I263T	probably damaging	Het
Zfp937	T	A	2: 150,080,967 (GRCm39)	C332*	probably null	Het
Zscan21	T	A	5: 138,123,470 (GRCm39)	S50T	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
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
R4678:Plekhg4	UTSW	8	106,107,003 (GRCm39)	nonsense	probably null
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

Posted On

2014-05-23