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: 0.176) question?

Stock #

R1961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106099906-106109494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106108096 bp (GRCm39)

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
Abcc1	T	C	16: 14,214,257 (GRCm39)	Y191H	probably damaging	Het
Abcc4	C	A	14: 118,848,871 (GRCm39)	V494L	possibly damaging	Het
Abcc4	C	A	14: 118,848,868 (GRCm39)	G495C	probably damaging	Het
Acsm4	T	C	7: 119,307,963 (GRCm39)	Y367H	probably benign	Het
Adam21	A	T	12: 81,606,282 (GRCm39)	Y493*	probably null	Het
Add2	T	C	6: 86,073,738 (GRCm39)	F209S	probably damaging	Het
Adgre4	T	C	17: 56,098,497 (GRCm39)	S136P	probably benign	Het
Aff4	T	G	11: 53,263,826 (GRCm39)	L282R	probably damaging	Het
Akt3	A	G	1: 176,924,561 (GRCm39)	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,091,083 (GRCm39)	Y174C	probably damaging	Het
Arb2a	C	A	13: 78,050,839 (GRCm39)	H50N	probably benign	Het
Atl1	A	G	12: 70,000,274 (GRCm39)	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688 (GRCm39)	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,535,351 (GRCm39)		probably null	Het
Btrc	T	G	19: 45,515,782 (GRCm39)	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,607,283 (GRCm39)	I1366N	probably benign	Het
Ccdc113	T	A	8: 96,267,459 (GRCm39)	N141K	probably benign	Het
Ccdc167	T	C	17: 29,923,405 (GRCm39)	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,290,630 (GRCm39)		probably benign	Het
Cenpe	A	G	3: 134,948,254 (GRCm39)	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,327,444 (GRCm39)	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,675,825 (GRCm39)	F230I	probably damaging	Het
Exog	A	G	9: 119,281,332 (GRCm39)	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,466,430 (GRCm39)	W30R	probably benign	Het
Fndc3b	G	A	3: 27,510,600 (GRCm39)	Q841*	probably null	Het
Frzb	T	A	2: 80,254,945 (GRCm39)	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,504,945 (GRCm39)		probably null	Het
Gabrb1	G	A	5: 71,857,679 (GRCm39)	R43Q	probably benign	Het
Gm21060	A	T	19: 61,285,445 (GRCm39)	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,395,245 (GRCm39)		noncoding transcript	Het
Gm5581	A	C	6: 131,145,125 (GRCm39)		noncoding transcript	Het
Gm9894	T	C	13: 67,912,034 (GRCm39)		noncoding transcript	Het
Gpr15	T	A	16: 58,538,370 (GRCm39)	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546 (GRCm39)		probably benign	Het
Grid2	T	C	6: 63,885,877 (GRCm39)	L91S	probably damaging	Het
Igsf5	A	C	16: 96,179,551 (GRCm39)	T215P	probably damaging	Het
Kif13a	G	A	13: 47,018,314 (GRCm39)		probably benign	Het
Kif21a	G	A	15: 90,855,051 (GRCm39)	A703V	probably damaging	Het
Kif27	T	G	13: 58,440,937 (GRCm39)	R1159S	probably benign	Het
Kifc2	T	A	15: 76,547,025 (GRCm39)	L226H	probably damaging	Het
Klf10	T	C	15: 38,296,240 (GRCm39)	H435R	probably damaging	Het
Masp1	T	C	16: 23,271,682 (GRCm39)	Y623C	probably damaging	Het
Megf10	T	A	18: 57,345,426 (GRCm39)	C118S	probably damaging	Het
Mical3	A	G	6: 120,959,568 (GRCm39)	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,120,432 (GRCm39)		probably null	Het
Mpeg1	G	A	19: 12,440,275 (GRCm39)	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,330,737 (GRCm39)	E553G	probably damaging	Het
Nmi	A	T	2: 51,838,632 (GRCm39)	S301T	probably benign	Het
Nr2f2	G	T	7: 70,007,903 (GRCm39)	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,087,110 (GRCm39)	N404S	probably damaging	Het
Nup50l	A	G	6: 96,142,250 (GRCm39)	S265P	possibly damaging	Het
Oplah	G	A	15: 76,181,664 (GRCm39)	T1119I	probably damaging	Het
Or1x2	T	G	11: 50,918,302 (GRCm39)	S158A	probably benign	Het
Or52e3	T	C	7: 102,869,204 (GRCm39)	V93A	probably benign	Het
Otoa	T	A	7: 120,717,792 (GRCm39)	D336E	probably benign	Het
Pde4b	A	G	4: 102,454,657 (GRCm39)	E108G	probably damaging	Het
Pdgfrb	G	A	18: 61,194,577 (GRCm39)	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Pla2g3	C	T	11: 3,440,983 (GRCm39)	T316I	probably benign	Het
Pmfbp1	T	G	8: 110,256,776 (GRCm39)		probably benign	Het
Pot1b	A	T	17: 55,969,531 (GRCm39)	Y546N	probably damaging	Het
Pphln1-ps1	T	A	16: 13,495,592 (GRCm39)	H230Q	probably benign	Het
Rab11fip5	C	A	6: 85,325,973 (GRCm39)	Q144H	possibly damaging	Het
Reep3	A	T	10: 66,875,278 (GRCm39)		probably null	Het
Rgl2	T	C	17: 34,152,589 (GRCm39)	L400P	probably damaging	Het
Rnf122	A	G	8: 31,614,874 (GRCm39)		probably benign	Het
Scgb1b21	G	T	7: 33,226,803 (GRCm39)		noncoding transcript	Het
Sec63	A	T	10: 42,699,882 (GRCm39)	K647N	probably damaging	Het
Sema4a	C	T	3: 88,345,483 (GRCm39)		probably benign	Het
Serpinf1	C	T	11: 75,307,245 (GRCm39)	V31I	probably benign	Het
Sez6l	C	T	5: 112,572,481 (GRCm39)		probably benign	Het
Shank3	T	C	15: 89,442,167 (GRCm39)	S1612P	possibly damaging	Het
Slc19a3	G	A	1: 83,000,519 (GRCm39)	T166M	probably benign	Het
Slc22a29	C	A	19: 8,146,557 (GRCm39)	R415M	probably benign	Het
Slc38a11	A	T	2: 65,160,683 (GRCm39)	F304I	possibly damaging	Het
Slitrk1	T	A	14: 109,149,622 (GRCm39)	N363I	probably damaging	Het
Slx4ip	A	G	2: 136,909,601 (GRCm39)	T129A	probably benign	Het
Spop	T	C	11: 95,382,537 (GRCm39)	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,512,916 (GRCm39)	D147E	probably benign	Het
Tnpo1	T	C	13: 98,989,440 (GRCm39)	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886 (GRCm39)	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,791,150 (GRCm39)	F45V	probably damaging	Het
Ttc27	T	A	17: 75,087,851 (GRCm39)	M472K	probably damaging	Het
Ttll7	A	G	3: 146,621,550 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,552,104 (GRCm39)	C22851S	probably benign	Het
Ttn	T	A	2: 76,628,556 (GRCm39)	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,534,055 (GRCm39)	T54A	probably benign	Het
Usp33	T	C	3: 152,086,265 (GRCm39)	V668A	probably damaging	Het
Vmn2r28	C	A	7: 5,484,070 (GRCm39)	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,945,961 (GRCm39)	M549L	probably benign	Het
Vwa5b2	T	C	16: 20,420,941 (GRCm39)		probably null	Het
Wnk1	T	C	6: 119,946,208 (GRCm39)	I648M	probably damaging	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
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

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