Mutagenetix > Incidental Mutations

Incidental Mutation 'R0370:Plekhg6'

30423

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

038576-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R0370 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

125362660-125380793 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125370660 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 444 (R444C)

Ref Sequence

ENSEMBL: ENSMUSP00000037004 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000042647
AA Change: R444C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: R444C

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

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l1	T	C	8: 123,501,554	S666P	probably damaging	Het
B3gntl1	A	T	11: 121,624,154	W263R	probably damaging	Het
Carmil3	A	G	14: 55,495,442	N270S	possibly damaging	Het
Ctdp1	T	C	18: 80,449,354	E642G	probably damaging	Het
Cyp2b9	A	T	7: 26,210,106	K433M	probably damaging	Het
Dcc	A	G	18: 71,587,985	V435A	possibly damaging	Het
Defa26	A	T	8: 21,618,859	M87L	probably benign	Het
Dnah11	T	A	12: 117,995,227	I2974L	probably benign	Het
Dnah3	T	C	7: 120,086,720	D131G	possibly damaging	Het
Dock6	A	T	9: 21,814,565	S1447R	probably benign	Het
Dtl	G	T	1: 191,575,350	N17K	probably benign	Het
Grid2	A	G	6: 64,345,734	I573V	possibly damaging	Het
Hoxa9	T	C	6: 52,225,704	E134G	possibly damaging	Het
Kcnn3	A	T	3: 89,667,092	N637I	probably damaging	Het
Ktn1	T	C	14: 47,664,075	F97L	probably benign	Het
Lmbrd2	T	C	15: 9,165,852	I271T	probably damaging	Het
Lrp6	A	C	6: 134,479,766	I845S	probably damaging	Het
Med13l	T	A	5: 118,741,826	N994K	probably benign	Het
Mrrf	A	T	2: 36,177,113		probably null	Het
Mtmr1	G	A	X: 71,388,231	V125I	probably damaging	Het
Nol8	C	T	13: 49,662,447	A677V	possibly damaging	Het
Olfr1047	A	T	2: 86,228,713	V86D	probably damaging	Het
Olfr309	T	A	7: 86,306,849	N88I	probably benign	Het
Olfr639	T	G	7: 104,012,059	L214F	probably damaging	Het
Paxip1	C	A	5: 27,760,086	V659F	probably damaging	Het
Pclo	T	C	5: 14,521,090	V163A	probably damaging	Het
Pkn3	T	A	2: 30,087,172	H641Q	probably damaging	Het
Rfx2	T	C	17: 56,799,308	E175G	probably benign	Het
Samd9l	A	C	6: 3,377,264		probably benign	Het
Sec14l5	A	T	16: 5,180,706	T537S	probably damaging	Het
Serpinb9d	A	G	13: 33,195,966	E96G	probably damaging	Het
Setd4	T	C	16: 93,591,118	E160G	probably damaging	Het
Sf3b2	C	T	19: 5,274,824	D845N	probably damaging	Het
Slc16a4	A	G	3: 107,301,097	I308V	possibly damaging	Het
Slco2b1	T	A	7: 99,690,437	N100Y	probably damaging	Het
Sptbn1	A	T	11: 30,121,545	S1475R	probably benign	Het
Tecta	T	C	9: 42,366,804	D1136G	probably benign	Het
Tmem94	G	C	11: 115,788,717	R273S	probably damaging	Het
Tns3	A	G	11: 8,445,730	S1225P	possibly damaging	Het
Ugt2b36	A	G	5: 87,091,975	Y184H	probably benign	Het
Vmn2r59	A	T	7: 42,012,726	M555K	probably benign	Het

Other mutations in Plekhg6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00918:Plekhg6	APN	6	125372551	missense	probably null	0.89
IGL01466:Plekhg6	APN	6	125372624	splice site	probably benign
IGL01621:Plekhg6	APN	6	125372099	missense	probably damaging	1.00
IGL01679:Plekhg6	APN	6	125374979	missense	probably benign	0.45
IGL01696:Plekhg6	APN	6	125378830	missense	probably benign	0.00
IGL02600:Plekhg6	APN	6	125370600	nonsense	probably null
IGL02604:Plekhg6	APN	6	125377379	splice site	probably benign
IGL02668:Plekhg6	APN	6	125372803	splice site	probably benign
R0426:Plekhg6	UTSW	6	125364629	unclassified	probably null
R1182:Plekhg6	UTSW	6	125372492	missense	probably damaging	0.99
R1401:Plekhg6	UTSW	6	125363109	missense	probably damaging	1.00
R1855:Plekhg6	UTSW	6	125375839	missense	probably damaging	1.00
R1888:Plekhg6	UTSW	6	125363343	missense	probably damaging	1.00
R1888:Plekhg6	UTSW	6	125363343	missense	probably damaging	1.00
R2264:Plekhg6	UTSW	6	125377468	missense	probably benign	0.00
R2991:Plekhg6	UTSW	6	125370469	missense	probably damaging	0.99
R3980:Plekhg6	UTSW	6	125373183	missense	probably damaging	1.00
R4193:Plekhg6	UTSW	6	125373118	missense	probably benign	0.01
R4227:Plekhg6	UTSW	6	125378805	missense	probably damaging	0.99
R4689:Plekhg6	UTSW	6	125373181	missense	probably benign	0.43
R5532:Plekhg6	UTSW	6	125372551	missense	possibly damaging	0.80
R5573:Plekhg6	UTSW	6	125375792	missense	possibly damaging	0.56
R6803:Plekhg6	UTSW	6	125363663	missense	probably damaging	0.98
R6885:Plekhg6	UTSW	6	125378730	missense	probably benign
R7105:Plekhg6	UTSW	6	125378805	missense	probably damaging	0.99
R7599:Plekhg6	UTSW	6	125374660	missense	probably damaging	0.99
R7626:Plekhg6	UTSW	6	125363668	missense	probably benign	0.08
R8069:Plekhg6	UTSW	6	125363046	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- TAGCTGCCACAGGCTTTCTCAGAC -3'
(R):5'- TTAGGCTCACAGGCAAAGAGCCAG -3'

Sequencing Primer
(F):5'- TCTCAGACTCTGGAAGGCATC -3'
(R):5'- GCCAGAACCCTGGAGAAGC -3'

Posted On

2013-04-24