Mutagenetix > Incidental Mutation

Incidental Mutation 'R6803:Plekhg6'

533436

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

044916-MU

Accession Numbers

Essential gene?

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

Stock #

R6803 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

125339623-125357756 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 125340626 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 578 (D578G)

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 damaging
Transcript: ENSMUST00000042647
AA Change: D578G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037004
Gene: ENSMUSG00000038167
AA Change: D578G

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

Meta Mutation Damage Score

0.2304

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.7%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	A	C	9: 50,700,860 (GRCm39)	D210A	probably benign	Het
As3mt	T	G	19: 46,698,020 (GRCm39)	M120R	probably benign	Het
Baz1a	T	A	12: 54,988,340 (GRCm39)	S270C	probably null	Het
Car5a	A	C	8: 122,650,504 (GRCm39)		probably null	Het
Ccdc187	T	A	2: 26,179,791 (GRCm39)	T223S	probably benign	Het
Cel	T	C	2: 28,448,060 (GRCm39)	N322S	probably benign	Het
Chd6	T	C	2: 160,802,279 (GRCm39)	E2185G	possibly damaging	Het
Clcnkb	T	C	4: 141,132,639 (GRCm39)	T597A	probably benign	Het
Cntnap1	A	G	11: 101,068,060 (GRCm39)	Y24C	possibly damaging	Het
Cog3	A	G	14: 75,941,479 (GRCm39)	S817P	probably benign	Het
Col8a2	A	G	4: 126,205,793 (GRCm39)	Y601C	probably damaging	Het
Cpm	G	T	10: 117,512,002 (GRCm39)		probably null	Het
Cpt2	T	C	4: 107,769,861 (GRCm39)	N79S	probably damaging	Het
Dnah17	T	C	11: 118,016,198 (GRCm39)	T314A	probably benign	Het
Dnm1	C	A	2: 32,202,766 (GRCm39)	V46F	probably damaging	Het
Fat3	C	T	9: 15,908,083 (GRCm39)	V2640M	probably damaging	Het
Fbxl2	A	T	9: 113,813,617 (GRCm39)	C296S	probably damaging	Het
Fcgbp	A	G	7: 27,802,637 (GRCm39)	T1522A	probably benign	Het
Foxl2	A	C	9: 98,837,985 (GRCm39)	K91T	probably damaging	Het
Hdac11	G	T	6: 91,143,247 (GRCm39)	R131L	probably damaging	Het
Ipo11	T	C	13: 106,993,766 (GRCm39)	I723V	probably benign	Het
Klhl33	A	G	14: 51,134,192 (GRCm39)	L150P	probably damaging	Het
Klk1b11	A	G	7: 43,647,261 (GRCm39)	H65R	probably damaging	Het
Larp7	T	C	3: 127,330,685 (GRCm39)		probably null	Het
Ldlrad3	T	C	2: 101,943,892 (GRCm39)	D60G	possibly damaging	Het
Mlip	A	T	9: 77,097,663 (GRCm39)	H177Q	probably damaging	Het
Mrnip	A	G	11: 50,090,730 (GRCm39)	D298G	probably benign	Het
Npas2	A	C	1: 39,375,130 (GRCm39)	S483R	probably benign	Het
Nrg3	C	A	14: 38,733,957 (GRCm39)	E310*	probably null	Het
Omg	T	A	11: 79,393,094 (GRCm39)	T255S	possibly damaging	Het
Or2y12	T	A	11: 49,426,432 (GRCm39)	L140H	probably damaging	Het
Or56b1b	G	T	7: 108,164,620 (GRCm39)	D127E	probably damaging	Het
Pygo1	A	G	9: 72,850,267 (GRCm39)	K39E	probably damaging	Het
Rell2	A	G	18: 38,089,994 (GRCm39)	D66G	probably damaging	Het
Samd9l	A	T	6: 3,375,446 (GRCm39)	I605K	probably damaging	Het
Sema6d	T	C	2: 124,505,970 (GRCm39)	S593P	probably damaging	Het
Sf3b3	A	G	8: 111,552,210 (GRCm39)	V545A	probably benign	Het
Speer4f1	T	A	5: 17,684,388 (GRCm39)		probably null	Het
Spem1	T	C	11: 69,711,974 (GRCm39)	E230G	possibly damaging	Het
Sphkap	A	G	1: 83,258,231 (GRCm39)	F171L	probably damaging	Het
Tbc1d13	T	C	2: 30,025,522 (GRCm39)		probably benign	Het
Tmem222	A	T	4: 132,994,154 (GRCm39)	N206K	probably benign	Het
Trnau1ap	C	T	4: 132,049,081 (GRCm39)	V41M	probably damaging	Het
Ttn	C	T	2: 76,769,387 (GRCm39)		probably null	Het
Ubr3	T	C	2: 69,766,368 (GRCm39)		probably null	Het
Uox	T	G	3: 146,318,264 (GRCm39)	V55G	possibly damaging	Het
Vmn2r24	A	T	6: 123,755,960 (GRCm39)	I11F	possibly damaging	Het
Wasf2	T	C	4: 132,922,220 (GRCm39)		probably null	Het
Wdr97	A	G	15: 76,240,776 (GRCm39)	Y488C	probably damaging	Het
Zbtb4	T	C	11: 69,669,454 (GRCm39)	S726P	possibly damaging	Het
Zfp534	C	T	4: 147,758,926 (GRCm39)	C581Y	probably damaging	Het
Zfp551	A	T	7: 12,151,108 (GRCm39)	C100*	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
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'- AGGATCCCTTCTGGCAACTC -3'
(R):5'- CTGAGACAGGGCAGTAAGTTTG -3'

Sequencing Primer
(F):5'- TTCTGGCAACTCTGGGGC -3'
(R):5'- CAGTAAGTTTGGAGGAGACATTTC -3'

Posted On

2018-09-12