Mutagenetix > Incidental Mutation

Incidental Mutation 'R4689:Plekhg6'

354769

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

041940-MU

Accession Numbers

Essential gene?

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

Stock #

R4689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

125339623-125357756 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 125350144 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 265 (L265F)

Ref Sequence

ENSEMBL: ENSMUSP00000037004 (fasta)

Gene Model

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

AlphaFold

Q8R0J1

Predicted Effect

probably benign
Transcript: ENSMUST00000042647
AA Change: L265F

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: L265F

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

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

97% (72/74)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,634,996 (GRCm39)	V336L	probably benign	Het
Acbd4	T	C	11: 102,996,194 (GRCm39)	L165P	possibly damaging	Het
Adam10	T	C	9: 70,673,236 (GRCm39)	S456P	possibly damaging	Het
Adgre4	T	C	17: 56,109,096 (GRCm39)	F368L	probably damaging	Het
Ahcyl1	G	T	3: 107,572,834 (GRCm39)	Y528*	probably null	Het
Aldh3b3	G	A	19: 4,014,516 (GRCm39)	V84M	probably damaging	Het
Cdca8	C	T	4: 124,824,896 (GRCm39)	G78E	probably damaging	Het
Cry2	T	C	2: 92,254,899 (GRCm39)	D152G	probably benign	Het
Cyp2c67	T	C	19: 39,627,032 (GRCm39)	Y266C	probably benign	Het
Dkk4	T	C	8: 23,115,336 (GRCm39)	F62S	probably benign	Het
Dnah12	G	A	14: 26,427,994 (GRCm39)	V207I	probably benign	Het
Dthd1	T	C	5: 63,000,255 (GRCm39)	C526R	probably damaging	Het
Dubr	A	T	16: 50,552,866 (GRCm39)		noncoding transcript	Het
F5	T	C	1: 163,979,542 (GRCm39)		probably benign	Het
Flcn	A	C	11: 59,691,870 (GRCm39)	W260G	possibly damaging	Het
Fmnl1	G	A	11: 103,084,562 (GRCm39)		probably null	Het
Frem2	A	T	3: 53,455,056 (GRCm39)	D2173E	probably benign	Het
Fstl4	C	T	11: 52,959,477 (GRCm39)	Q173*	probably null	Het
Gfra3	G	A	18: 34,823,640 (GRCm39)	P381S	unknown	Het
Gm28308	C	A	6: 52,190,291 (GRCm39)		probably benign	Het
Gm8730	T	A	8: 103,592,379 (GRCm39)		noncoding transcript	Het
Gzmd	T	C	14: 56,368,683 (GRCm39)		probably null	Het
Hexb	A	G	13: 97,317,600 (GRCm39)	Y366H	probably damaging	Het
Hydin	A	T	8: 111,322,046 (GRCm39)	H4566L	probably benign	Het
Ifi213	G	A	1: 173,417,986 (GRCm39)	T142I	possibly damaging	Het
Kif13b	T	A	14: 65,010,513 (GRCm39)	C1271S	probably damaging	Het
Krtap9-5	G	T	11: 99,840,286 (GRCm39)	C329F	unknown	Het
Larp1	G	T	11: 57,932,439 (GRCm39)	G207W	probably damaging	Het
Lfng	A	G	5: 140,600,194 (GRCm39)	D368G	probably damaging	Het
Mbd5	G	A	2: 49,148,291 (GRCm39)	V834I	possibly damaging	Het
Mterf1b	T	A	5: 4,247,263 (GRCm39)	Y301*	probably null	Het
Myh7b	T	C	2: 155,472,434 (GRCm39)	I1305T	possibly damaging	Het
Myo16	T	C	8: 10,488,890 (GRCm39)	V687A	probably damaging	Het
Naip2	A	T	13: 100,285,320 (GRCm39)	I1292N	probably damaging	Het
Nmral1	A	G	16: 4,532,422 (GRCm39)	F130L	probably damaging	Het
Nos1	A	G	5: 118,017,450 (GRCm39)	N271S	probably benign	Het
Nrap	A	G	19: 56,374,458 (GRCm39)	S23P	probably damaging	Het
Or12d16-ps1	A	T	17: 37,705,662 (GRCm39)	N77I	probably damaging	Het
Or2aj4	A	T	16: 19,385,263 (GRCm39)	Y123*	probably null	Het
Or4e2	T	C	14: 52,688,671 (GRCm39)	I267T	probably benign	Het
Or6c210	T	C	10: 129,496,185 (GRCm39)	V170A	probably benign	Het
Pkdcc	C	G	17: 83,523,290 (GRCm39)	C132W	probably damaging	Het
Prkaa1	A	G	15: 5,208,177 (GRCm39)	T473A	probably benign	Het
Prpf3	G	A	3: 95,743,801 (GRCm39)	Q451*	probably null	Het
Psma5-ps	T	A	10: 85,150,065 (GRCm39)		noncoding transcript	Het
Ptprh	T	A	7: 4,600,996 (GRCm39)	D127V	possibly damaging	Het
Rab36	T	C	10: 74,877,765 (GRCm39)		probably null	Het
Rasa1	A	T	13: 85,386,282 (GRCm39)	Y427*	probably null	Het
Rgs11	T	C	17: 26,423,521 (GRCm39)		probably null	Het
Serpinb13	C	T	1: 106,910,574 (GRCm39)	S66L	probably damaging	Het
Shank2	G	A	7: 143,974,342 (GRCm39)	V1087I	probably benign	Het
Slc39a10	A	C	1: 46,875,173 (GRCm39)	M43R	probably benign	Het
Slc40a1	T	A	1: 45,951,473 (GRCm39)	Q228L	probably benign	Het
Slc45a1	A	T	4: 150,722,996 (GRCm39)	L296Q	probably benign	Het
Stambpl1	A	G	19: 34,213,691 (GRCm39)	T307A	probably benign	Het
Stt3a	T	C	9: 36,644,225 (GRCm39)	T705A	possibly damaging	Het
Tec	G	A	5: 72,980,980 (GRCm39)		probably benign	Het
Trp63	A	T	16: 25,684,012 (GRCm39)	T300S	possibly damaging	Het
Vmn1r235	A	G	17: 21,482,623 (GRCm39)	H316R	probably benign	Het
Vmn2r1	A	G	3: 64,012,074 (GRCm39)	H645R	possibly damaging	Het
Wdfy4	A	G	14: 32,831,505 (GRCm39)	I907T	possibly damaging	Het
Zcchc10	A	G	11: 53,218,151 (GRCm39)	T33A	probably benign	Het
Zfp318	T	A	17: 46,710,560 (GRCm39)	V761D	probably damaging	Het
Zfp358	T	C	8: 3,546,146 (GRCm39)		probably null	Het
Zfp661	G	A	2: 127,419,468 (GRCm39)	P224L	probably damaging	Het
Zfp937	T	C	2: 150,078,706 (GRCm39)	M33T	probably damaging	Het
Zfp955a	T	C	17: 33,461,040 (GRCm39)	H364R	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGCTCAGGAGTCTACAGG -3'
(R):5'- TTGGTTCCTCTCTGGAGCACAG -3'

Sequencing Primer
(F):5'- AGGAGTCTACAGGGCCCCTC -3'
(R):5'- CACAGAATGAGGGGTCTGGCTG -3'

Posted On

2015-10-21