Mutagenetix > Incidental Mutation

Incidental Mutation 'R0013:Plekhg4'

32643

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

038308-MU

Accession Numbers

Essential gene?

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

Stock #

R0013 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

105373274-105382862 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 105375396 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 6 (E6*)

Ref Sequence

ENSEMBL: ENSMUSP00000125249 (fasta)

Gene Model

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

AlphaFold

A0A1L1SU27

Predicted Effect

probably null
Transcript: ENSMUST00000014927
AA Change: E6*

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: E6*

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: 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: E6*

SMART Domains

Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: E6*

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

probably benign
Transcript: ENSMUST00000214056

Meta Mutation Damage Score

0.9706

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.8%

Validation Efficiency

94% (79/84)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	A	G	10: 76,457,512	M156V	probably benign	Het
Adnp2	A	T	18: 80,129,745	V483D	probably damaging	Het
Aff1	G	T	5: 103,828,484	E491*	probably null	Het
Agl	A	T	3: 116,776,608	C911*	probably null	Het
Akt2	A	G	7: 27,636,058	D284G	probably damaging	Het
Alox15	A	G	11: 70,349,635	M240T	possibly damaging	Het
Antxr2	A	G	5: 97,979,985	V229A	probably damaging	Het
Arap2	G	A	5: 62,683,484	L680F	probably damaging	Het
Btaf1	A	G	19: 36,958,373	T188A	probably benign	Het
Btnl6	G	A	17: 34,515,531	Q86*	probably null	Het
C2cd3	T	A	7: 100,416,062	L685H	probably damaging	Het
Cdh23	T	C	10: 60,413,173	T878A	possibly damaging	Het
Clec4b2	T	C	6: 123,202,149	Y137H	probably damaging	Het
Dchs1	T	A	7: 105,755,836	T2500S	possibly damaging	Het
Def6	A	G	17: 28,217,092	Y75C	probably damaging	Het
Dhx33	A	T	11: 70,993,635	F448L	probably damaging	Het
Dner	C	T	1: 84,494,893		probably benign	Het
Dnmbp	G	A	19: 43,902,231	P366S	probably benign	Het
Eif4g3	T	C	4: 138,175,848	C1160R	possibly damaging	Het
Elmod1	G	A	9: 53,912,901		probably benign	Het
Faah	C	A	4: 116,004,391	L305F	probably damaging	Het
Fam71b	A	G	11: 46,406,804	T312A	unknown	Het
Flt1	A	G	5: 147,571,014		probably benign	Het
Fyco1	A	T	9: 123,822,406	N1196K	probably benign	Het
Galnt18	T	C	7: 111,554,457	N320S	probably damaging	Het
Glp2r	C	A	11: 67,709,712	G437V	possibly damaging	Het
Gm4884	T	C	7: 41,044,292	S562P	probably damaging	Het
Gm9936	A	G	5: 114,857,347		probably benign	Het
Gpn2	C	A	4: 133,584,792	P112T	probably damaging	Het
Grm4	A	G	17: 27,431,575	Y816H	probably benign	Het
Helz2	A	T	2: 181,240,959	S14T	probably benign	Het
Htt	T	C	5: 34,820,104	L778P	probably benign	Het
Il11ra1	T	C	4: 41,765,060	S129P	probably damaging	Het
Ints11	T	C	4: 155,887,168	F315S	probably damaging	Het
Itga11	A	T	9: 62,776,613	N1059Y	possibly damaging	Het
Jak3	A	G	8: 71,684,327	S716G	probably damaging	Het
Kcns1	G	T	2: 164,168,643	D65E	probably benign	Het
Kdm5d	A	T	Y: 941,715	K1305N	probably benign	Het
Kif26a	G	T	12: 112,177,880	V1523L	probably benign	Het
Mboat7	A	G	7: 3,683,822	S340P	probably damaging	Het
Mctp2	T	C	7: 72,229,408	I234V	probably benign	Het
Mex3c	G	A	18: 73,590,551	A572T	probably benign	Het
Mpp3	C	A	11: 102,005,425	R424L	probably benign	Het
Mroh4	T	A	15: 74,608,237		probably benign	Het
Myo9a	A	T	9: 59,860,206		probably benign	Het
Myog	T	A	1: 134,290,235	H60Q	probably damaging	Het
Nlrp9a	T	A	7: 26,571,225		probably null	Het
Notch1	A	G	2: 26,473,818	V868A	possibly damaging	Het
Olfr352	A	G	2: 36,870,160	N198S	probably damaging	Het
Olfr59	T	A	11: 74,289,051	I135N	possibly damaging	Het
Olfr73	T	C	2: 88,034,266	Y291C	possibly damaging	Het
Olfr980	A	T	9: 40,006,355	I198N	probably damaging	Het
Pink1	T	C	4: 138,317,401	T342A	probably benign	Het
Plb1	T	A	5: 32,349,615		probably benign	Het
Plec	T	C	15: 76,178,246	D2524G	probably damaging	Het
Polq	T	C	16: 37,061,839	F1455S	possibly damaging	Het
Ppm1e	A	G	11: 87,249,058		probably benign	Het
Prkaca	G	A	8: 83,988,303	M119I	possibly damaging	Het
Prss46	G	T	9: 110,850,055	S108I	probably damaging	Het
Ptma	C	T	1: 86,529,776		probably benign	Het
Rab11fip4	C	T	11: 79,689,653	T437M	probably benign	Het
Rngtt	T	A	4: 33,379,409	M437K	probably benign	Het
Rrn3	T	A	16: 13,813,113	D604E	possibly damaging	Het
Scn4a	A	G	11: 106,348,405		probably benign	Het
Sis	A	G	3: 72,910,476	L1468P	possibly damaging	Het
Slit3	A	G	11: 35,707,918	M1450V	probably benign	Het
Smg5	T	C	3: 88,349,233	S269P	probably benign	Het
Sntg1	T	C	1: 8,463,462	T323A	probably damaging	Het
Son	C	T	16: 91,651,662	T37I	probably damaging	Het
Stk17b	T	C	1: 53,764,132	I41M	probably benign	Het
Tgm5	T	A	2: 121,076,882	Y120F	probably damaging	Het
Tppp	A	G	13: 74,021,360	K73R	possibly damaging	Het
Ttn	C	A	2: 76,739,158	K27130N	probably damaging	Het
Ttn	C	T	2: 76,907,752	V4148I	probably benign	Het
Uba7	A	T	9: 107,978,249	Y375F	probably damaging	Het
Ugcg	T	C	4: 59,213,931	L171P	possibly damaging	Het
Vsig2	T	C	9: 37,542,576		probably benign	Het
Zcchc11	T	A	4: 108,530,955		probably benign	Het
Zfp839	T	A	12: 110,868,386	S692T	possibly 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
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
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'- GCACACCAGGCTGGACTACTTTAC -3'
(R):5'- CAAGCCTTCCCCTCGATAGTCATTG -3'

Sequencing Primer
(F):5'- ACCAGGCTGGACTACTTTACTTTTAC -3'
(R):5'- CACCCTGTGTCAGGTTAAGG -3'

Posted On

2013-05-09