Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00515:Plekhg4'

6211

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhg4

Ensembl Gene

ENSMUSG00000014782

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 4

Synonyms

4931414L13Rik

Accession Numbers

Essential gene?

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

Stock #

IGL00515

Quality Score

Status

Chromosome

Chromosomal Location

106099906-106109494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106102370 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 76 (T76A)

Ref Sequence

ENSEMBL: ENSMUSP00000125556 (fasta)

Gene Model

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

AlphaFold

A0A1L1SU27

Predicted Effect

probably benign
Transcript: ENSMUST00000014927
AA Change: T120A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: T120A

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
AA Change: T76A

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000125556
Gene: ENSMUSG00000014782
AA Change: T76A

Domain	Start	End	E-Value	Type
SCOP:d1aua_2	136	275	5e-9	SMART
Blast:SEC14	137	271	9e-8	BLAST

Predicted Effect

unknown
Transcript: ENSMUST00000160191
AA Change: T120A

SMART Domains

Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: T120A

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: ENSMUST00000214056
AA Change: T156A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Coding Region Coverage

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd8	T	C	8: 71,909,963 (GRCm39)	E395G	probably damaging	Het
Agbl2	T	C	2: 90,624,304 (GRCm39)	V188A	possibly damaging	Het
Arap3	A	G	18: 38,108,979 (GRCm39)	L1225P	probably damaging	Het
Btn2a2	A	T	13: 23,662,746 (GRCm39)	N372K	probably damaging	Het
C4b	T	C	17: 34,947,865 (GRCm39)	D1650G	probably damaging	Het
Dip2b	G	A	15: 100,072,382 (GRCm39)	R706Q	probably damaging	Het
Dscam	T	A	16: 96,409,265 (GRCm39)	N1886I	possibly damaging	Het
Foxp2	A	T	6: 15,403,818 (GRCm39)	H390L	probably damaging	Het
Galnt5	T	C	2: 57,889,080 (GRCm39)	S227P	probably benign	Het
Hectd2	A	G	19: 36,562,336 (GRCm39)	T148A	probably benign	Het
Helz2	C	T	2: 180,874,799 (GRCm39)	W1898*	probably null	Het
Hmgxb4	C	A	8: 75,727,539 (GRCm39)	P174Q	probably damaging	Het
Il6st	A	G	13: 112,617,967 (GRCm39)		probably null	Het
Lef1	A	G	3: 130,997,926 (GRCm39)	R312G	probably damaging	Het
Mast2	G	T	4: 116,168,526 (GRCm39)	R805S	probably benign	Het
Naip2	C	T	13: 100,291,395 (GRCm39)	R1181K	probably benign	Het
Nfatc1	G	T	18: 80,710,241 (GRCm39)	H508Q	probably damaging	Het
Pabir1	T	C	19: 24,453,996 (GRCm39)	D242G	probably damaging	Het
Rln1	C	T	19: 29,309,414 (GRCm39)	V122I	possibly damaging	Het
Slc22a28	T	C	19: 8,094,428 (GRCm39)	I198V	probably benign	Het
Slco1c1	G	A	6: 141,515,208 (GRCm39)	R702H	probably benign	Het
Slit1	T	A	19: 41,612,940 (GRCm39)	H860L	probably damaging	Het
Slk	A	G	19: 47,630,535 (GRCm39)		probably benign	Het
Stab1	A	T	14: 30,881,686 (GRCm39)	I535N	probably benign	Het
Tigar	A	C	6: 127,065,042 (GRCm39)	M202R	probably damaging	Het
Tsc22d1	A	G	14: 76,655,917 (GRCm39)	S42G	probably damaging	Het
Zc3h7a	A	T	16: 10,955,202 (GRCm39)	N957K	probably damaging	Het

Other mutations in Plekhg4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2012-04-20