Mutagenetix > Incidental Mutation

Incidental Mutation 'R1418:Plekhg4'

159925

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

039474-MU

Accession Numbers

Essential gene?

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

Stock #

R1418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106099906-106109494 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 106105742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 736 (A736T)

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 benign
Transcript: ENSMUST00000014927
AA Change: A700T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000014927
Gene: ENSMUSG00000014782
AA Change: A700T

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
AA Change: A631T

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125249
Gene: ENSMUSG00000014782
AA Change: A631T

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 benign
Transcript: ENSMUST00000214056
AA Change: A736T

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

Predicted Effect

probably benign
Transcript: ENSMUST00000168196

Meta Mutation Damage Score

0.0794

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.5%

Validation Efficiency

97% (92/95)

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: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730596B20Rik	T	G	6: 52,156,131 (GRCm39)		probably benign	Het
Abtb3	C	A	10: 85,481,442 (GRCm39)	T948K	probably damaging	Het
Adamts12	T	A	15: 11,286,890 (GRCm39)	W832R	probably damaging	Het
Alb	A	G	5: 90,612,061 (GRCm39)		probably benign	Het
Arnt	A	G	3: 95,377,710 (GRCm39)		probably benign	Het
Asap2	A	C	12: 21,289,586 (GRCm39)	N501H	probably damaging	Het
Asap2	A	G	12: 21,289,590 (GRCm39)	E499G	probably damaging	Het
Atp5f1b	C	T	10: 127,919,167 (GRCm39)		probably benign	Het
Atrnl1	G	A	19: 57,924,137 (GRCm39)		probably null	Het
AW554918	T	G	18: 25,472,756 (GRCm39)		probably null	Het
Bhmt1b	A	G	18: 87,775,458 (GRCm39)	K327R	probably damaging	Het
Bltp3a	A	G	17: 28,113,551 (GRCm39)	K1241R	probably benign	Het
Bod1l	G	A	5: 41,976,814 (GRCm39)	T1500I	probably damaging	Het
Cd101	A	T	3: 100,926,091 (GRCm39)	Y209*	probably null	Het
Cdk12	T	A	11: 98,132,611 (GRCm39)	S1013R	unknown	Het
Cntd1	T	A	11: 101,176,566 (GRCm39)	L221Q	possibly damaging	Het
Cntn4	G	A	6: 106,321,831 (GRCm39)		probably null	Het
Col17a1	T	A	19: 47,659,944 (GRCm39)	D336V	probably damaging	Het
Creb3l4	A	G	3: 90,146,045 (GRCm39)	I193T	possibly damaging	Het
Cyp2d10	A	T	15: 82,290,106 (GRCm39)		probably null	Het
Dcun1d3	A	G	7: 119,457,158 (GRCm39)	F185L	probably damaging	Het
Dnah17	T	A	11: 117,964,849 (GRCm39)	N2365Y	probably damaging	Het
Dnah7a	T	A	1: 53,686,395 (GRCm39)		probably benign	Het
Dnajc16	G	T	4: 141,495,052 (GRCm39)	S520*	probably null	Het
Dsg1b	G	T	18: 20,530,487 (GRCm39)	E381*	probably null	Het
Dusp1	A	G	17: 26,727,293 (GRCm39)	V2A	probably benign	Het
Elf1	T	C	14: 79,798,215 (GRCm39)	V34A	probably damaging	Het
Endou	A	T	15: 97,616,854 (GRCm39)		probably benign	Het
Epn2	A	G	11: 61,413,912 (GRCm39)	S419P	probably benign	Het
Fat4	T	C	3: 38,944,962 (GRCm39)	I1285T	probably damaging	Het
Fcgr2b	T	C	1: 170,788,650 (GRCm39)	Y319C	probably damaging	Het
Fhip2a	G	A	19: 57,359,594 (GRCm39)	A45T	possibly damaging	Het
Gfra1	A	C	19: 58,226,849 (GRCm39)	S461A	possibly damaging	Het
Gli2	T	G	1: 118,769,666 (GRCm39)	I629L	probably damaging	Het
Gm17661	GA	GAA	2: 90,917,709 (GRCm38)		noncoding transcript	Het
Gnas	C	T	2: 174,187,007 (GRCm39)		probably benign	Het
Gpx3	G	A	11: 54,800,422 (GRCm39)	V207I	probably damaging	Het
Hormad2	A	G	11: 4,359,005 (GRCm39)		probably null	Het
Hsd17b4	G	T	18: 50,263,254 (GRCm39)		probably benign	Het
Kmt2b	A	G	7: 30,276,385 (GRCm39)		probably benign	Het
Lrch1	T	C	14: 75,041,709 (GRCm39)		probably benign	Het
Mark3	T	C	12: 111,594,271 (GRCm39)	I307T	possibly damaging	Het
Mroh8	G	A	2: 157,083,774 (GRCm39)		probably benign	Het
Mtch2	A	T	2: 90,683,359 (GRCm39)		probably benign	Het
Mtif2	G	A	11: 29,495,002 (GRCm39)	V701I	probably benign	Het
Mug1	C	T	6: 121,815,635 (GRCm39)	S13L	probably benign	Het
Naa25	T	G	5: 121,561,797 (GRCm39)	L450R	probably damaging	Het
Nr4a2	A	T	2: 56,998,336 (GRCm39)	N543K	probably damaging	Het
Nrp2	C	T	1: 62,822,491 (GRCm39)	R695*	probably null	Het
Or10ag53	G	T	2: 87,082,766 (GRCm39)	G162C	probably benign	Het
Or10s1	T	A	9: 39,985,768 (GRCm39)	L59H	probably damaging	Het
Or2z9	T	C	8: 72,854,231 (GRCm39)	L209P	probably damaging	Het
Otog	G	T	7: 45,924,039 (GRCm39)	A1133S	probably damaging	Het
Pclo	A	T	5: 14,728,144 (GRCm39)		probably benign	Het
Pdcd11	A	G	19: 47,118,516 (GRCm39)	D1794G	probably damaging	Het
Pde4d	C	A	13: 110,086,921 (GRCm39)	S609*	probably null	Het
Pkn3	T	A	2: 29,973,059 (GRCm39)	V323E	probably damaging	Het
Plekhd1	A	G	12: 80,739,659 (GRCm39)	T3A	probably benign	Het
Plppr2	C	T	9: 21,859,085 (GRCm39)	P401S	possibly damaging	Het
Poln	A	G	5: 34,236,319 (GRCm39)	V604A	probably benign	Het
Pramel21	T	A	4: 143,342,604 (GRCm39)	I237K	probably benign	Het
Prkd2	A	G	7: 16,603,470 (GRCm39)	D800G	probably benign	Het
Ptprb	A	G	10: 116,155,375 (GRCm39)	T710A	probably benign	Het
Qrfpr	C	A	3: 36,234,244 (GRCm39)	G366W	probably damaging	Het
Qser1	C	A	2: 104,607,776 (GRCm39)	A1471S	probably damaging	Het
Ralbp1	A	T	17: 66,166,143 (GRCm39)		probably benign	Het
Rars1	A	T	11: 35,700,567 (GRCm39)	Y505N	probably damaging	Het
Sec24b	T	C	3: 129,801,072 (GRCm39)	N408S	probably damaging	Het
Slc38a9	T	C	13: 112,826,714 (GRCm39)	C151R	probably benign	Het
Smcr8	T	C	11: 60,668,858 (GRCm39)	I2T	probably damaging	Het
Smtnl2	T	C	11: 72,292,247 (GRCm39)	T301A	probably damaging	Het
Smyd1	G	A	6: 71,239,151 (GRCm39)	T13I	probably benign	Het
Sp110	G	A	1: 85,522,106 (GRCm39)	H66Y	probably benign	Het
Szt2	A	T	4: 118,244,976 (GRCm39)	S1187T	probably benign	Het
Tdo2	A	G	3: 81,868,775 (GRCm39)		probably null	Het
Tfap2a	T	A	13: 40,870,680 (GRCm39)	M405L	possibly damaging	Het
Thap12	A	G	7: 98,366,037 (GRCm39)	D735G	probably damaging	Het
Tmem132b	C	A	5: 125,715,313 (GRCm39)	Q341K	probably benign	Het
Tnip3	T	C	6: 65,574,413 (GRCm39)	V88A	probably benign	Het
Trim45	G	T	3: 100,834,614 (GRCm39)	M432I	probably benign	Het
Ttn	A	G	2: 76,565,755 (GRCm39)	V28199A	possibly damaging	Het
Ube3b	T	C	5: 114,556,636 (GRCm39)	F989S	probably damaging	Het
Ubox5	A	G	2: 130,442,210 (GRCm39)	L159P	probably damaging	Het
Uevld	A	T	7: 46,587,758 (GRCm39)	V314E	possibly damaging	Het
Urb1	T	C	16: 90,566,354 (GRCm39)	M1478V	probably damaging	Het
Utrn	C	T	10: 12,589,094 (GRCm39)	V871I	probably benign	Het
Vat1l	T	C	8: 115,009,101 (GRCm39)		probably benign	Het
Vmn1r205	T	C	13: 22,777,049 (GRCm39)	K18E	probably benign	Het
Zfp518a	T	A	19: 40,902,803 (GRCm39)	Y911N	probably damaging	Het
Zfyve28	A	G	5: 34,374,590 (GRCm39)	C475R	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
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

Predicted Primers

PCR Primer
(F):5'- ACCTGGTTGGCTCTGGACCAAAAG -3'
(R):5'- TCAAGGTTGCCAAAGAGGTGCG -3'

Sequencing Primer
(F):5'- ACTGAAGCCGATGCCAG -3'
(R):5'- GTCGATCTAACTCAGGGAAGTAGTTC -3'

Posted On

2014-03-14