Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02884:Fgd6'

362951

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fgd6

Ensembl Gene

ENSMUSG00000020021

Gene Name

FYVE, RhoGEF and PH domain containing 6

Synonyms

Etohd4, ZFYVE24

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.522) question?

Stock #

IGL02884

Quality Score

Status

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 94045639 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000020208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020208]

AlphaFold

Q69ZL1

PDB Structure

Solution Structure of the Pleckstrin Homology Domain of Mouse Ethanol Decreased 4 Protein [SOLUTION NMR]

Predicted Effect

probably benign
Transcript: ENSMUST00000020208

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021

Domain	Start	End	E-Value	Type
low complexity region	4	18	N/A	INTRINSIC
low complexity region	24	34	N/A	INTRINSIC
low complexity region	45	60	N/A	INTRINSIC
low complexity region	75	88	N/A	INTRINSIC
low complexity region	150	161	N/A	INTRINSIC
low complexity region	403	418	N/A	INTRINSIC
low complexity region	803	821	N/A	INTRINSIC
RhoGEF	845	1029	3.09e-46	SMART
PH	1060	1155	6.25e-15	SMART
FYVE	1183	1251	6.93e-28	SMART
low complexity region	1268	1282	N/A	INTRINSIC
PH	1303	1398	1.54e-5	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	A	G	11: 58,287,476	I121V	probably benign	Het
Adprh	C	T	16: 38,446,034	V249I	probably benign	Het
Akap11	A	T	14: 78,498,962	M1797K	probably benign	Het
Akap6	T	A	12: 52,886,622	I299N	probably benign	Het
Akr1c12	A	T	13: 4,272,212	M277K	possibly damaging	Het
Ankrd17	A	T	5: 90,264,757	M1236K	probably damaging	Het
Arhgef11	A	G	3: 87,728,006	D874G	probably damaging	Het
Atg4b	T	C	1: 93,787,715		probably benign	Het
Bcl9	G	A	3: 97,210,052	P442L	probably damaging	Het
Ccdc107	A	T	4: 43,495,228	K98*	probably null	Het
Ccdc129	T	C	6: 55,874,354		probably null	Het
Cenpl	A	G	1: 161,086,049	Q343R	probably benign	Het
Cep104	T	C	4: 153,989,862	C524R	probably damaging	Het
Clec3b	C	T	9: 123,156,762	T75I	probably benign	Het
Col13a1	A	T	10: 61,905,285		probably benign	Het
Crot	C	T	5: 8,978,197		probably null	Het
Ddo	G	A	10: 40,637,364	V101I	probably benign	Het
Disp2	T	C	2: 118,787,551		probably benign	Het
Dnmt3b	A	C	2: 153,674,377	Y474S	probably damaging	Het
Dpp6	T	A	5: 27,634,556	N298K	possibly damaging	Het
Fbf1	C	T	11: 116,146,513	E940K	probably damaging	Het
H2-M10.2	T	C	17: 36,284,676	R241G	probably damaging	Het
Haghl	A	T	17: 25,783,098	F207Y	possibly damaging	Het
Helt	G	A	8: 46,292,583	R88C	probably damaging	Het
Igf2bp2	T	C	16: 22,162,885	K27E	probably benign	Het
Il1b	T	C	2: 129,365,102	H246R	probably benign	Het
Kcnu1	C	T	8: 25,921,528	S167L	probably damaging	Het
Kif16b	A	T	2: 142,702,614		probably benign	Het
Myh7	A	T	14: 54,992,819	S19T	probably benign	Het
Ncaph2	T	C	15: 89,364,244		probably null	Het
Nlrp4c	T	C	7: 6,098,952	L879P	probably damaging	Het
Nqo2	T	A	13: 33,972,361	N19K	probably damaging	Het
Olfr456	C	T	6: 42,486,606	V196M	probably damaging	Het
Osbpl1a	C	A	18: 12,819,578	G93*	probably null	Het
Pdxdc1	A	G	16: 13,843,795	F459L	possibly damaging	Het
Phc2	A	T	4: 128,708,016	H88L	probably damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Ptchd4	A	T	17: 42,502,449	T414S	possibly damaging	Het
Rab7b	A	G	1: 131,698,542	R103G	probably damaging	Het
Retnla	A	G	16: 48,842,580	Y3C	probably benign	Het
Samd7	G	A	3: 30,756,173	R113H	probably damaging	Het
Shisa9	G	A	16: 11,997,043		probably benign	Het
Soat1	A	T	1: 156,441,356	I208N	possibly damaging	Het
Stab1	C	A	14: 31,150,143		probably null	Het
Tti2	C	T	8: 31,151,477	L210F	possibly damaging	Het
Ube2v2	A	G	16: 15,556,485	V77A	probably benign	Het
Ubr5	T	C	15: 37,998,376	E1617G	probably damaging	Het
Vmn2r16	T	A	5: 109,360,891	I495K	possibly damaging	Het
Vwce	G	T	19: 10,646,579	R278L	possibly damaging	Het
Wdr26	C	T	1: 181,182,784	A551T	probably damaging	Het
Wee1	A	G	7: 110,126,062	I304V	probably benign	Het
Xrcc5	C	T	1: 72,346,237	H496Y	possibly damaging	Het
Zfp142	G	T	1: 74,571,983	S884R	probably damaging	Het

Other mutations in Fgd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Fgd6	APN	10	94043634	missense	probably benign	0.01
IGL00975:Fgd6	APN	10	94134076	missense	probably damaging	0.98
IGL01366:Fgd6	APN	10	94043476	missense	possibly damaging	0.71
IGL01940:Fgd6	APN	10	94089650	splice site	probably null
IGL01958:Fgd6	APN	10	94138308	missense	probably benign	0.25
IGL01988:Fgd6	APN	10	94074335	splice site	probably benign
IGL02019:Fgd6	APN	10	94133354	missense	probably damaging	1.00
IGL02074:Fgd6	APN	10	94127435	missense	probably damaging	1.00
IGL02227:Fgd6	APN	10	94134084	missense	probably damaging	1.00
IGL02262:Fgd6	APN	10	94125628	missense	probably damaging	0.98
IGL02353:Fgd6	APN	10	94138396	missense	possibly damaging	0.82
IGL02360:Fgd6	APN	10	94138396	missense	possibly damaging	0.82
IGL02425:Fgd6	APN	10	94074202	missense	probably benign	0.00
IGL02526:Fgd6	APN	10	94100511	missense	probably benign	0.21
IGL02607:Fgd6	APN	10	94044448	missense	possibly damaging	0.94
IGL02741:Fgd6	APN	10	94123290	missense	possibly damaging	0.65
IGL02870:Fgd6	APN	10	94045164	missense	probably damaging	1.00
IGL02995:Fgd6	APN	10	94045480	nonsense	probably null
IGL03189:Fgd6	APN	10	94044456	missense	probably benign	0.26
IGL03258:Fgd6	APN	10	94133353	missense	probably benign	0.44
IGL03396:Fgd6	APN	10	94044456	missense	probably benign	0.26
FR4449:Fgd6	UTSW	10	94044320	small deletion	probably benign
R0257:Fgd6	UTSW	10	94043915	missense	probably benign	0.11
R0926:Fgd6	UTSW	10	94135047	missense	probably benign	0.40
R1325:Fgd6	UTSW	10	94127427	missense	probably damaging	1.00
R1422:Fgd6	UTSW	10	94045372	missense	probably damaging	1.00
R1491:Fgd6	UTSW	10	94044832	missense	probably benign	0.06
R1593:Fgd6	UTSW	10	94045032	missense	probably damaging	1.00
R1624:Fgd6	UTSW	10	94137436	missense	probably benign	0.19
R1929:Fgd6	UTSW	10	94045006	missense	probably benign	0.01
R2064:Fgd6	UTSW	10	94045041	missense	probably damaging	0.98
R2965:Fgd6	UTSW	10	94044194	missense	probably benign	0.03
R2966:Fgd6	UTSW	10	94044194	missense	probably benign	0.03
R3889:Fgd6	UTSW	10	94089637	missense	probably damaging	1.00
R4094:Fgd6	UTSW	10	94043434	missense	probably damaging	1.00
R4605:Fgd6	UTSW	10	94044355	missense	probably benign	0.12
R4883:Fgd6	UTSW	10	94139853	missense	probably benign	0.00
R5217:Fgd6	UTSW	10	94134077	missense	possibly damaging	0.90
R5473:Fgd6	UTSW	10	94044676	missense	probably benign	0.00
R5606:Fgd6	UTSW	10	94138328	nonsense	probably null
R5644:Fgd6	UTSW	10	94134050	missense	possibly damaging	0.80
R6051:Fgd6	UTSW	10	94137565	critical splice donor site	probably null
R6258:Fgd6	UTSW	10	94044299	missense	probably benign	0.00
R6735:Fgd6	UTSW	10	94074320	missense	possibly damaging	0.94
R7181:Fgd6	UTSW	10	94043511	missense	probably benign	0.02
R7210:Fgd6	UTSW	10	94134092	missense	probably damaging	0.98
R7296:Fgd6	UTSW	10	94044047	nonsense	probably null
R7296:Fgd6	UTSW	10	94139881	missense	probably benign	0.02
R7697:Fgd6	UTSW	10	94045444	missense	probably damaging	0.99
R7747:Fgd6	UTSW	10	94044916	missense	probably damaging	1.00
R7861:Fgd6	UTSW	10	94103331	missense	probably benign	0.15
R7940:Fgd6	UTSW	10	94120482	missense	probably benign	0.02
R8022:Fgd6	UTSW	10	94044344	missense	possibly damaging	0.54
R8138:Fgd6	UTSW	10	94134143	missense	probably null	0.45
R8171:Fgd6	UTSW	10	94074332	critical splice donor site	probably null
R8189:Fgd6	UTSW	10	94074215	missense	probably benign	0.00
R8213:Fgd6	UTSW	10	94044052	missense	probably benign	0.37
R8960:Fgd6	UTSW	10	94045006	missense	probably benign	0.06
R8981:Fgd6	UTSW	10	94045054	missense	possibly damaging	0.80
R8989:Fgd6	UTSW	10	94123563	missense	probably damaging	0.97
R9609:Fgd6	UTSW	10	94043812	missense	probably damaging	0.99
RF031:Fgd6	UTSW	10	94044325	frame shift	probably null
RF040:Fgd6	UTSW	10	94044325	frame shift	probably null

Posted On

2015-12-18