Mutagenetix > Incidental Mutation

Incidental Mutation 'R7626:Plekhg6'

589445

Institutional Source

Beutler Lab

Gene Symbol

Plekhg6

Ensembl Gene

ENSMUSG00000038167

Gene Name

pleckstrin homology domain containing, family G (with RhoGef domain) member 6

Synonyms

LOC213522

MMRRC Submission

045690-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R7626 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125339623-125357756 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 125340631 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 576 (D576E)

Ref Sequence

ENSEMBL: ENSMUSP00000037004 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032491] [ENSMUST00000042647] [ENSMUST00000144524]

AlphaFold

Q8R0J1

Predicted Effect

probably benign
Transcript: ENSMUST00000032491

SMART Domains

Protein: ENSMUSP00000032491
Gene: ENSMUSG00000030341

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
TNFR	44	81	2.4e-7	SMART
TNFR	84	125	2.19e-10	SMART
TNFR	127	166	5.43e-6	SMART
TNFR	168	195	3.41e1	SMART
transmembrane domain	212	234	N/A	INTRINSIC
low complexity region	263	276	N/A	INTRINSIC
low complexity region	290	301	N/A	INTRINSIC
DEATH	345	441	8.04e-18	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000042647
AA Change: D576E

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: D576E

Domain	Start	End	E-Value	Type
RhoGEF	165	352	1.5e-44	SMART
PH	410	511	8.99e-7	SMART
low complexity region	535	557	N/A	INTRINSIC
low complexity region	627	648	N/A	INTRINSIC
low complexity region	719	731	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125880

SMART Domains

Protein: ENSMUSP00000121968
Gene: ENSMUSG00000030341

Domain	Start	End	E-Value	Type
TNFR	2	42	2.09e-7	SMART
TNFR	44	83	5.43e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000144524

SMART Domains

Protein: ENSMUSP00000117470
Gene: ENSMUSG00000030341

Domain	Start	End	E-Value	Type
TNFR	5	44	5.43e-6	SMART
TNFR	46	73	3.41e1	SMART
transmembrane domain	90	112	N/A	INTRINSIC
low complexity region	141	154	N/A	INTRINSIC
low complexity region	168	179	N/A	INTRINSIC
Blast:DEATH	223	295	1e-13	BLAST
SCOP:d1icha_	269	295	3e-8	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acta2	G	A	19: 34,229,931 (GRCm39)	T8I	probably benign	Het
Alox5	T	C	6: 116,390,756 (GRCm39)	D465G	possibly damaging	Het
Arhgef16	T	A	4: 154,367,339 (GRCm39)	K355N	possibly damaging	Het
Camkk2	T	A	5: 122,902,363 (GRCm39)		probably benign	Het
Ccdc171	C	T	4: 83,499,012 (GRCm39)	Q237*	probably null	Het
Ces2b	T	C	8: 105,564,017 (GRCm39)	Y464H	possibly damaging	Het
Cntfr	A	G	4: 41,662,013 (GRCm39)	F243S	possibly damaging	Het
Crip3	A	T	17: 46,740,791 (GRCm39)	R65S	probably benign	Het
Dcn	A	G	10: 97,319,340 (GRCm39)	Y39C	possibly damaging	Het
Degs2	T	C	12: 108,658,332 (GRCm39)	S216G	possibly damaging	Het
Dmxl1	A	G	18: 50,035,861 (GRCm39)	I2295V	probably benign	Het
Dnah2	A	G	11: 69,389,511 (GRCm39)	S794P	probably damaging	Het
Eri1	A	C	8: 35,941,554 (GRCm39)	Y264*	probably null	Het
Etl4	T	C	2: 20,718,189 (GRCm39)	L179P	probably damaging	Het
F5	T	G	1: 164,014,481 (GRCm39)	M584R	possibly damaging	Het
Fam98c	G	T	7: 28,852,248 (GRCm39)	R104S	probably damaging	Het
Flad1	A	T	3: 89,310,718 (GRCm39)	I443N	probably benign	Het
Hbp1	T	C	12: 31,993,899 (GRCm39)	E43G	probably benign	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Kcnj3	T	A	2: 55,484,833 (GRCm39)	C310*	probably null	Het
Lct	T	C	1: 128,212,932 (GRCm39)	Y1907C	probably damaging	Het
Loxhd1	T	C	18: 77,518,882 (GRCm39)	V1896A	possibly damaging	Het
Lrfn4	C	A	19: 4,663,679 (GRCm39)	R285L	probably damaging	Het
Ltb4r2	T	A	14: 56,000,338 (GRCm39)	S320T	probably damaging	Het
Mmd	G	T	11: 90,148,378 (GRCm39)	R20L	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083 (GRCm38)		probably null	Het
Nbas	T	C	12: 13,608,661 (GRCm39)	S2146P	probably benign	Het
Nop14	A	G	5: 34,809,135 (GRCm39)	F319L	probably damaging	Het
Numa1	C	A	7: 101,648,630 (GRCm39)	T787K	probably benign	Het
Or10q12	T	G	19: 13,745,709 (GRCm39)	M1R	probably null	Het
Or2t46	A	C	11: 58,471,999 (GRCm39)	T110P	probably damaging	Het
Or6c208	T	G	10: 129,223,726 (GRCm39)	C75G	possibly damaging	Het
Patj	T	C	4: 98,435,224 (GRCm39)	V2A	probably benign	Het
Pisd	T	C	5: 32,898,032 (GRCm39)	H52R	probably benign	Het
Plekhn1	T	A	4: 156,310,110 (GRCm39)	H68L	probably benign	Het
Ppp1r37	T	A	7: 19,295,778 (GRCm39)	I60F	probably damaging	Het
Ppp2r1b	C	T	9: 50,789,476 (GRCm39)	T513M	possibly damaging	Het
Pramel32	A	T	4: 88,548,279 (GRCm39)	I42N	probably damaging	Het
Rhobtb2	C	A	14: 70,034,386 (GRCm39)	A280S	probably damaging	Het
Rnf40	A	G	7: 127,189,047 (GRCm39)	D140G	probably benign	Het
Rxfp1	A	G	3: 79,555,397 (GRCm39)	L653P	probably damaging	Het
Satb1	A	T	17: 52,074,995 (GRCm39)	D500E	probably benign	Het
Slc15a1	A	T	14: 121,713,377 (GRCm39)	D383E	probably benign	Het
Smarcad1	C	A	6: 65,073,033 (GRCm39)	S604R	possibly damaging	Het
St7	A	G	6: 17,934,216 (GRCm39)	T533A	probably damaging	Het
Sv2c	T	A	13: 96,122,451 (GRCm39)	T442S	probably benign	Het
Tbx2	A	G	11: 85,731,622 (GRCm39)	T640A	probably benign	Het
Tenm4	T	A	7: 96,542,221 (GRCm39)	N1948K	probably damaging	Het
Tll1	T	C	8: 64,551,268 (GRCm39)		probably null	Het
Tmem135	A	T	7: 88,805,718 (GRCm39)		probably null	Het
Tonsl	A	T	15: 76,518,136 (GRCm39)	L582Q	probably null	Het
Unc13c	T	A	9: 73,641,799 (GRCm39)	K1231N	probably damaging	Het
Vmn2r101	T	A	17: 19,832,192 (GRCm39)	Y729*	probably null	Het
Zcchc2	A	G	1: 105,928,742 (GRCm39)	T334A	possibly damaging	Het
Zfp655	T	C	5: 145,173,917 (GRCm39)	L136P	probably damaging	Het
Zfp729a	A	T	13: 67,768,437 (GRCm39)	C597*	probably null	Het

Other mutations in Plekhg6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Plekhg6	APN	6	125,349,514 (GRCm39)	missense	probably null	0.89
IGL01466:Plekhg6	APN	6	125,349,587 (GRCm39)	splice site	probably benign
IGL01621:Plekhg6	APN	6	125,349,062 (GRCm39)	missense	probably damaging	1.00
IGL01679:Plekhg6	APN	6	125,351,942 (GRCm39)	missense	probably benign	0.45
IGL01696:Plekhg6	APN	6	125,355,793 (GRCm39)	missense	probably benign	0.00
IGL02600:Plekhg6	APN	6	125,347,563 (GRCm39)	nonsense	probably null
IGL02604:Plekhg6	APN	6	125,354,342 (GRCm39)	splice site	probably benign
IGL02668:Plekhg6	APN	6	125,349,766 (GRCm39)	splice site	probably benign
R0370:Plekhg6	UTSW	6	125,347,623 (GRCm39)	missense	probably damaging	1.00
R0426:Plekhg6	UTSW	6	125,341,592 (GRCm39)	splice site	probably null
R1182:Plekhg6	UTSW	6	125,349,455 (GRCm39)	missense	probably damaging	0.99
R1401:Plekhg6	UTSW	6	125,340,072 (GRCm39)	missense	probably damaging	1.00
R1855:Plekhg6	UTSW	6	125,352,802 (GRCm39)	missense	probably damaging	1.00
R1888:Plekhg6	UTSW	6	125,340,306 (GRCm39)	missense	probably damaging	1.00
R1888:Plekhg6	UTSW	6	125,340,306 (GRCm39)	missense	probably damaging	1.00
R2264:Plekhg6	UTSW	6	125,354,431 (GRCm39)	missense	probably benign	0.00
R2991:Plekhg6	UTSW	6	125,347,432 (GRCm39)	missense	probably damaging	0.99
R3980:Plekhg6	UTSW	6	125,350,146 (GRCm39)	missense	probably damaging	1.00
R4193:Plekhg6	UTSW	6	125,350,081 (GRCm39)	missense	probably benign	0.01
R4227:Plekhg6	UTSW	6	125,355,768 (GRCm39)	missense	probably damaging	0.99
R4689:Plekhg6	UTSW	6	125,350,144 (GRCm39)	missense	probably benign	0.43
R5532:Plekhg6	UTSW	6	125,349,514 (GRCm39)	missense	possibly damaging	0.80
R5573:Plekhg6	UTSW	6	125,352,755 (GRCm39)	missense	possibly damaging	0.56
R6803:Plekhg6	UTSW	6	125,340,626 (GRCm39)	missense	probably damaging	0.98
R6885:Plekhg6	UTSW	6	125,355,693 (GRCm39)	missense	probably benign
R7105:Plekhg6	UTSW	6	125,355,768 (GRCm39)	missense	probably damaging	0.99
R7599:Plekhg6	UTSW	6	125,351,623 (GRCm39)	missense	probably damaging	0.99
R8069:Plekhg6	UTSW	6	125,340,009 (GRCm39)	missense	probably benign	0.04
R8204:Plekhg6	UTSW	6	125,340,461 (GRCm39)	missense	probably damaging	1.00
R8685:Plekhg6	UTSW	6	125,352,755 (GRCm39)	missense	possibly damaging	0.56
R8885:Plekhg6	UTSW	6	125,351,523 (GRCm39)	missense	probably damaging	0.98
R9181:Plekhg6	UTSW	6	125,355,854 (GRCm39)	start gained	probably benign
R9342:Plekhg6	UTSW	6	125,340,023 (GRCm39)	missense	probably damaging	1.00
R9701:Plekhg6	UTSW	6	125,347,602 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- TAGGATCCCTTCTGGCAACTCTG -3'
(R):5'- ACTGTCCTGCACTGAGACAG -3'

Sequencing Primer
(F):5'- TTCTGGCAACTCTGGGGCG -3'
(R):5'- CACTGAGACAGGGCAGTAAGTTTG -3'

Posted On

2019-10-24