Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03396:Fgd6'

421256

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

Is this an essential gene?

Possibly non essential (E-score: 0.384) question?

Stock #

IGL03396

Quality Score

Status

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 94044456 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 391 (V391I)

Ref Sequence

ENSEMBL: ENSMUSP00000020208 (fasta)

Gene Model

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

PDB Structure

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

Predicted Effect

probably benign
Transcript: ENSMUST00000020208
AA Change: V391I

PolyPhen 2 Score 0.262 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: V391I

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadvl	G	A	11: 70,011,413	R457*	probably null	Het
Arl5b	C	A	2: 15,075,104	T153K	probably damaging	Het
Arsb	A	T	13: 93,939,317	Y436F	probably benign	Het
Azgp1	C	T	5: 137,985,183	P40L	possibly damaging	Het
B020004C17Rik	A	G	14: 57,016,536	T39A	possibly damaging	Het
Cacna2d3	G	A	14: 29,720,877	Q67*	probably null	Het
Cdcp2	C	A	4: 107,107,172	Y406*	probably null	Het
Cep89	T	A	7: 35,429,178	D585E	probably benign	Het
Cfap65	A	G	1: 74,904,642	F1570S	probably damaging	Het
Cnfn	A	G	7: 25,368,358		probably benign	Het
Fra10ac1	C	T	19: 38,201,546		probably null	Het
Gjc1	T	C	11: 102,800,527	K217E	probably benign	Het
Il20rb	T	C	9: 100,459,198	E285G	probably damaging	Het
Ints2	T	C	11: 86,213,062	T1086A	probably damaging	Het
Itih4	A	T	14: 30,887,949	I79F	probably damaging	Het
Jmjd6	A	T	11: 116,841,251	L208H	probably damaging	Het
Lilr4b	A	G	10: 51,481,157	I30V	possibly damaging	Het
Limch1	A	G	5: 66,953,673	N81S	probably damaging	Het
Mettl21e	A	T	1: 44,206,599	N162K	possibly damaging	Het
Ninl	A	G	2: 150,966,212	S299P	possibly damaging	Het
Obscn	A	G	11: 59,073,578	L3046P	probably benign	Het
Olfr1450	T	A	19: 12,953,820	V77E	probably damaging	Het
Olfr342	C	A	2: 36,527,680	S89R	probably benign	Het
Olfr780	A	G	10: 129,322,047	I141M	probably benign	Het
Pnpla8	G	A	12: 44,283,526	R287H	probably benign	Het
Pot1a	A	C	6: 25,745,914	I596R	possibly damaging	Het
Prkaa1	A	G	15: 5,176,650	D329G	probably damaging	Het
Ptprr	T	G	10: 116,188,330	V182G	probably damaging	Het
Rrp1b	T	A	17: 32,057,263		probably benign	Het
Sec24a	A	G	11: 51,708,967	V837A	probably benign	Het
Slc17a6	A	G	7: 51,669,092	Y494C	probably damaging	Het
Slc38a10	A	T	11: 120,128,475	I360N	probably damaging	Het
Snrpb2	T	C	2: 143,071,457	F194L	possibly damaging	Het
Tcam1	A	G	11: 106,285,386	I313V	probably benign	Het
Trpv1	A	G	11: 73,253,056	N238S	probably benign	Het
Usp20	T	C	2: 31,011,717	V498A	probably benign	Het
Vmn2r23	T	C	6: 123,729,626	S472P	probably damaging	Het
Vmn2r98	A	T	17: 19,069,845	T548S	possibly damaging	Het
Zfp429	A	T	13: 67,396,040		probably benign	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
IGL02884:Fgd6	APN	10	94045639	splice site	probably benign
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
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
RF031:Fgd6	UTSW	10	94044325	frame shift	probably null
RF040:Fgd6	UTSW	10	94044325	frame shift	probably null

Posted On

2016-08-02