Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01940:Fgd6'

180861

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 #

IGL01940

Quality Score

Status

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

T to A at 94089650 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 null
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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141143

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	C	11: 9,567,661		probably benign	Het
Ahnak	A	T	19: 9,006,557	D1735V	probably benign	Het
Alkbh3	G	A	2: 93,981,595	T231I	probably damaging	Het
Ap4e1	T	C	2: 127,043,511	V344A	probably damaging	Het
Brip1	T	A	11: 86,064,966	D907V	probably benign	Het
Clca3a1	A	T	3: 144,746,976	M582K	probably benign	Het
Csf2	G	T	11: 54,249,525	P29H	probably damaging	Het
Cyp2d26	C	T	15: 82,792,557	R196H	probably benign	Het
Dagla	A	G	19: 10,252,171	V575A	probably benign	Het
Dimt1	T	A	13: 106,948,698		probably benign	Het
Ei24	A	T	9: 36,782,391	F288L	probably damaging	Het
Fam107a	T	C	14: 8,298,766	H120R	probably benign	Het
Fancl	G	T	11: 26,459,752	V203F	probably damaging	Het
Flrt2	A	G	12: 95,780,238	Y450C	probably damaging	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Ift122	A	G	6: 115,887,371		probably benign	Het
Kcnk13	A	G	12: 100,061,424	S253G	probably benign	Het
Lcp1	A	T	14: 75,216,365	N469I	probably benign	Het
Lrrc24	T	C	15: 76,716,057	Y294C	probably damaging	Het
Odam	C	A	5: 87,887,333	S52Y	possibly damaging	Het
Olfr1243	T	A	2: 89,527,810	N200I	probably damaging	Het
Olfr128	C	T	17: 37,924,286	T240I	probably damaging	Het
Olfr641	A	G	7: 104,039,922	N42S	probably damaging	Het
Pkd1	G	T	17: 24,579,746	R2676L	possibly damaging	Het
Plec	T	C	15: 76,180,329	D1915G	probably damaging	Het
Ptbp2	A	G	3: 119,726,115	V9A	possibly damaging	Het
Ptk2b	A	G	14: 66,158,613	I802T	probably benign	Het
Rabgap1	G	T	2: 37,487,067	A304S	probably damaging	Het
Sema3f	T	C	9: 107,683,697		probably benign	Het
Serpinb3a	A	T	1: 107,046,185	V332E	probably damaging	Het
Skil	T	A	3: 31,111,644	M370K	probably benign	Het
Slc25a1	T	A	16: 17,926,440	Y209F	probably benign	Het
Smim15	A	G	13: 108,047,630	K57E	probably damaging	Het
Taar3	T	A	10: 23,949,957	C134S	probably damaging	Het
Tns4	C	T	11: 99,068,221	S684N	probably benign	Het
Vmn2r58	A	G	7: 41,837,647	V608A	probably benign	Het
Zbtb26	A	T	2: 37,435,975	C350S	possibly 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
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
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

2014-05-07