Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01366:Fgd6'

75926

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 essential (E-score: 0.560) question?

Stock #

IGL01366

Quality Score

Status

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94043476 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 64 (V64A)

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

possibly damaging
Transcript: ENSMUST00000020208
AA Change: V64A

PolyPhen 2 Score 0.712 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: V64A

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310002L09Rik	A	T	4: 73,950,700		probably benign	Het
Adamts2	T	C	11: 50,796,468	Y1041H	probably damaging	Het
Adck5	A	C	15: 76,595,616	*568C	probably null	Het
AK157302	T	A	13: 21,495,301		probably benign	Het
Bmpr2	G	T	1: 59,813,677	G56W	probably damaging	Het
Capn11	A	C	17: 45,653,200	I146S	probably damaging	Het
Ccdc162	A	T	10: 41,580,306	D1613E	possibly damaging	Het
Ccdc167	T	C	17: 29,705,312	E50G	probably damaging	Het
Col5a2	G	T	1: 45,391,888	P864Q	possibly damaging	Het
Col7a1	C	T	9: 108,977,119		probably benign	Het
Crebbp	T	A	16: 4,126,506	H556L	probably damaging	Het
Dcpp1	T	A	17: 23,882,736	I153N	possibly damaging	Het
Dgke	C	T	11: 89,055,386	R196H	probably benign	Het
Efr3a	T	A	15: 65,851,150	I459K	probably benign	Het
Espl1	T	A	15: 102,319,836	C1682S	probably benign	Het
Exosc3	C	T	4: 45,317,747	R185H	probably damaging	Het
Fam160b2	G	A	14: 70,585,373	R688C	probably damaging	Het
Gata3	A	G	2: 9,877,465	L42P	probably damaging	Het
Ggta1	C	A	2: 35,402,450	E282*	probably null	Het
Ghr	T	C	15: 3,320,187	D503G	probably damaging	Het
Gls	C	T	1: 52,168,399	G602D	probably damaging	Het
Gm2058	A	G	7: 39,589,234		noncoding transcript	Het
Grb7	T	C	11: 98,452,274		probably benign	Het
Ifngr1	A	T	10: 19,609,600	H449L	probably damaging	Het
Ighg2b	T	G	12: 113,307,036	D158A	possibly damaging	Het
Nphs2	T	C	1: 156,311,035	V83A	probably benign	Het
Parp6	T	A	9: 59,636,713	M390K	possibly damaging	Het
Pask	T	C	1: 93,310,852	K1304E	probably benign	Het
Scai	A	G	2: 39,106,961	S274P	probably benign	Het
Sik2	A	G	9: 50,907,463	S404P	probably damaging	Het
Slc7a8	A	T	14: 54,781,188	I47N	probably damaging	Het
Tas2r113	A	T	6: 132,893,797	I263F	probably benign	Het
Tdrd1	T	A	19: 56,855,302	D737E	probably benign	Het
Trio	T	C	15: 27,732,868	T2976A	possibly damaging	Het
Ttc28	T	C	5: 111,085,171		probably null	Het
Vmn1r21	A	G	6: 57,843,814	I215T	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
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
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
R7944:Fgd6	UTSW	10	94103331	missense	probably benign	0.15
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

2013-10-07