Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02668:Plekhg6'

302834

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Plekhg6

Ensembl Gene

ENSMUSG00000038167

Gene Name

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

Synonyms

LOC213522

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL02668

Quality Score

Status

Chromosome

Chromosomal Location

125339623-125357756 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 125349766 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000037004 (fasta)

Gene Model

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

AlphaFold

Q8R0J1

Predicted Effect

probably benign
Transcript: ENSMUST00000042647

SMART Domains

Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	A	G	14: 35,532,074 (GRCm39)	M167T	probably benign	Het
Abcc4	G	T	14: 118,848,887 (GRCm39)	S488R	probably damaging	Het
Adprm	G	T	11: 66,931,073 (GRCm39)	D230E	possibly damaging	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Bltp3a	A	C	17: 28,105,549 (GRCm39)	I692L	possibly damaging	Het
Ccdc66	T	C	14: 27,219,298 (GRCm39)	K309E	possibly damaging	Het
Cyb561d2	C	T	9: 107,417,371 (GRCm39)	A127T	probably benign	Het
Dctn1	T	A	6: 83,168,030 (GRCm39)	M357K	possibly damaging	Het
Diras2	T	C	13: 52,661,806 (GRCm39)	N167S	probably benign	Het
Dmgdh	T	G	13: 93,840,418 (GRCm39)	V283G	probably damaging	Het
Dmxl2	A	T	9: 54,324,229 (GRCm39)	W1052R	probably damaging	Het
Dnah6	A	T	6: 73,098,806 (GRCm39)	V2083D	possibly damaging	Het
Dnai7	G	T	6: 145,150,983 (GRCm39)	R30S	unknown	Het
Exoc4	T	G	6: 33,898,467 (GRCm39)	F895L	probably benign	Het
Fsip1	G	T	2: 118,082,206 (GRCm39)	A76E	probably benign	Het
Fsip2	A	G	2: 82,828,662 (GRCm39)	I6820V	probably benign	Het
Hdac10	G	A	15: 89,009,847 (GRCm39)	P395L	probably benign	Het
Ing3	A	G	6: 21,950,058 (GRCm39)	D17G	probably damaging	Het
Map3k4	A	T	17: 12,454,840 (GRCm39)	F1383L	possibly damaging	Het
Myct1	C	A	10: 5,554,513 (GRCm39)	P127T	probably damaging	Het
Or52s1	A	T	7: 102,861,942 (GRCm39)	I281F	possibly damaging	Het
Osbpl7	G	T	11: 96,958,031 (GRCm39)	A625S	possibly damaging	Het
Padi2	C	T	4: 140,677,191 (GRCm39)	R660C	probably benign	Het
Paip1	A	T	13: 119,574,607 (GRCm39)	I185F	probably damaging	Het
Pals2	C	T	6: 50,171,509 (GRCm39)	T386I	probably damaging	Het
Phykpl	G	A	11: 51,484,514 (GRCm39)		probably null	Het
Plxna1	A	T	6: 89,334,251 (GRCm39)	L126*	probably null	Het
Rchy1	A	T	5: 92,110,577 (GRCm39)	M1K	probably null	Het
Rfx3	T	C	19: 27,793,014 (GRCm39)		probably benign	Het
Sdr9c7	T	C	10: 127,738,267 (GRCm39)	F182L	probably damaging	Het
Sgpl1	A	C	10: 60,941,229 (GRCm39)	V294G	probably damaging	Het
Sh2b1	A	G	7: 126,071,646 (GRCm39)	S180P	possibly damaging	Het
Sorbs1	T	C	19: 40,303,125 (GRCm39)	D488G	probably damaging	Het
Stab2	A	G	10: 86,682,027 (GRCm39)		probably benign	Het
Sycp1	A	C	3: 102,727,847 (GRCm39)		probably benign	Het
Tmem245	T	C	4: 56,925,081 (GRCm39)	K347E	possibly damaging	Het
Tnk1	A	G	11: 69,747,749 (GRCm39)	M51T	probably damaging	Het
Trpm2	C	T	10: 77,771,776 (GRCm39)	R621H	probably damaging	Het
Ubd	G	T	17: 37,506,420 (GRCm39)	R102L	probably benign	Het
Vmn2r103	G	T	17: 20,014,389 (GRCm39)	A394S	probably benign	Het
Zfp324	T	A	7: 12,704,773 (GRCm39)	C321S	probably damaging	Het
Zfp488	G	T	14: 33,692,777 (GRCm39)	Q129K	probably benign	Het
Zmpste24	T	A	4: 120,918,297 (GRCm39)	N442Y	probably damaging	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
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
R7626:Plekhg6	UTSW	6	125,340,631 (GRCm39)	missense	probably benign	0.08
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

Posted On

2015-04-16