Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00764:Fgd6'

10770

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 non essential (E-score: 0.472) question?

Stock #

IGL00764

Quality Score

Status

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94043634 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 117 (I117V)

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
AA Change: I117V

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: I117V

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930480E11Rik	C	T	X: 78,370,019	Q117*	probably null	Het
Cep350	G	T	1: 155,940,746	T401K	possibly damaging	Het
Dnah17	A	G	11: 118,096,485	V1333A	probably damaging	Het
Dnah6	T	C	6: 73,195,620	N285S	possibly damaging	Het
Eif2b3	T	C	4: 117,066,469	S294P	probably benign	Het
Fanci	A	G	7: 79,395,912	M1V	probably null	Het
Fgf15	A	G	7: 144,896,935		probably null	Het
Iars	T	C	13: 49,711,827	I593T	probably benign	Het
Myof	A	T	19: 37,974,923	C409S	probably benign	Het
Nedd1	A	T	10: 92,694,974		probably benign	Het
Neto1	A	T	18: 86,498,812	H418L	probably damaging	Het
Plxnd1	A	T	6: 115,967,972	V981E	possibly damaging	Het
Ptpn13	T	C	5: 103,597,718	V2430A	probably damaging	Het
Thbs2	G	T	17: 14,690,252	D28E	probably damaging	Het
Vps50	C	T	6: 3,532,177	Q227*	probably null	Het
Xpnpep2	T	C	X: 48,131,154	V604A	probably benign	Het
Zfp773	T	G	7: 7,132,684	K304N	probably damaging	Het
Zfp831	A	G	2: 174,645,908	E792G	possibly damaging	Het

Other mutations in Fgd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00975:Fgd6	APN	10	94,134,076 (GRCm38)	missense	probably damaging	0.98
IGL01366:Fgd6	APN	10	94,043,476 (GRCm38)	missense	possibly damaging	0.71
IGL01940:Fgd6	APN	10	94,089,650 (GRCm38)	splice site	probably null
IGL01958:Fgd6	APN	10	94,138,308 (GRCm38)	missense	probably benign	0.25
IGL01988:Fgd6	APN	10	94,074,335 (GRCm38)	splice site	probably benign
IGL02019:Fgd6	APN	10	94,133,354 (GRCm38)	missense	probably damaging	1.00
IGL02074:Fgd6	APN	10	94,127,435 (GRCm38)	missense	probably damaging	1.00
IGL02227:Fgd6	APN	10	94,134,084 (GRCm38)	missense	probably damaging	1.00
IGL02262:Fgd6	APN	10	94,125,628 (GRCm38)	missense	probably damaging	0.98
IGL02353:Fgd6	APN	10	94,138,396 (GRCm38)	missense	possibly damaging	0.82
IGL02360:Fgd6	APN	10	94,138,396 (GRCm38)	missense	possibly damaging	0.82
IGL02425:Fgd6	APN	10	94,074,202 (GRCm38)	missense	probably benign	0.00
IGL02526:Fgd6	APN	10	94,100,511 (GRCm38)	missense	probably benign	0.21
IGL02607:Fgd6	APN	10	94,044,448 (GRCm38)	missense	possibly damaging	0.94
IGL02741:Fgd6	APN	10	94,123,290 (GRCm38)	missense	possibly damaging	0.65
IGL02870:Fgd6	APN	10	94,045,164 (GRCm38)	missense	probably damaging	1.00
IGL02884:Fgd6	APN	10	94,045,639 (GRCm38)	splice site	probably benign
IGL02995:Fgd6	APN	10	94,045,480 (GRCm38)	nonsense	probably null
IGL03189:Fgd6	APN	10	94,044,456 (GRCm38)	missense	probably benign	0.26
IGL03258:Fgd6	APN	10	94,133,353 (GRCm38)	missense	probably benign	0.44
IGL03396:Fgd6	APN	10	94,044,456 (GRCm38)	missense	probably benign	0.26
FR4449:Fgd6	UTSW	10	94,044,320 (GRCm38)	small deletion	probably benign
R0257:Fgd6	UTSW	10	94,043,915 (GRCm38)	missense	probably benign	0.11
R0926:Fgd6	UTSW	10	94,135,047 (GRCm38)	missense	probably benign	0.40
R1325:Fgd6	UTSW	10	94,127,427 (GRCm38)	missense	probably damaging	1.00
R1422:Fgd6	UTSW	10	94,045,372 (GRCm38)	missense	probably damaging	1.00
R1491:Fgd6	UTSW	10	94,044,832 (GRCm38)	missense	probably benign	0.06
R1593:Fgd6	UTSW	10	94,045,032 (GRCm38)	missense	probably damaging	1.00
R1624:Fgd6	UTSW	10	94,137,436 (GRCm38)	missense	probably benign	0.19
R1929:Fgd6	UTSW	10	94,045,006 (GRCm38)	missense	probably benign	0.01
R2064:Fgd6	UTSW	10	94,045,041 (GRCm38)	missense	probably damaging	0.98
R2965:Fgd6	UTSW	10	94,044,194 (GRCm38)	missense	probably benign	0.03
R2966:Fgd6	UTSW	10	94,044,194 (GRCm38)	missense	probably benign	0.03
R3889:Fgd6	UTSW	10	94,089,637 (GRCm38)	missense	probably damaging	1.00
R4094:Fgd6	UTSW	10	94,043,434 (GRCm38)	missense	probably damaging	1.00
R4605:Fgd6	UTSW	10	94,044,355 (GRCm38)	missense	probably benign	0.12
R4883:Fgd6	UTSW	10	94,139,853 (GRCm38)	missense	probably benign	0.00
R5217:Fgd6	UTSW	10	94,134,077 (GRCm38)	missense	possibly damaging	0.90
R5473:Fgd6	UTSW	10	94,044,676 (GRCm38)	missense	probably benign	0.00
R5606:Fgd6	UTSW	10	94,138,328 (GRCm38)	nonsense	probably null
R5644:Fgd6	UTSW	10	94,134,050 (GRCm38)	missense	possibly damaging	0.80
R6051:Fgd6	UTSW	10	94,137,565 (GRCm38)	critical splice donor site	probably null
R6258:Fgd6	UTSW	10	94,044,299 (GRCm38)	missense	probably benign	0.00
R6735:Fgd6	UTSW	10	94,074,320 (GRCm38)	missense	possibly damaging	0.94
R7181:Fgd6	UTSW	10	94,043,511 (GRCm38)	missense	probably benign	0.02
R7210:Fgd6	UTSW	10	94,134,092 (GRCm38)	missense	probably damaging	0.98
R7296:Fgd6	UTSW	10	94,139,881 (GRCm38)	missense	probably benign	0.02
R7296:Fgd6	UTSW	10	94,044,047 (GRCm38)	nonsense	probably null
R7697:Fgd6	UTSW	10	94,045,444 (GRCm38)	missense	probably damaging	0.99
R7747:Fgd6	UTSW	10	94,044,916 (GRCm38)	missense	probably damaging	1.00
R7861:Fgd6	UTSW	10	94,103,331 (GRCm38)	missense	probably benign	0.15
R7940:Fgd6	UTSW	10	94,120,482 (GRCm38)	missense	probably benign	0.02
R8022:Fgd6	UTSW	10	94,044,344 (GRCm38)	missense	possibly damaging	0.54
R8138:Fgd6	UTSW	10	94,134,143 (GRCm38)	missense	probably null	0.45
R8171:Fgd6	UTSW	10	94,074,332 (GRCm38)	critical splice donor site	probably null
R8189:Fgd6	UTSW	10	94,074,215 (GRCm38)	missense	probably benign	0.00
R8213:Fgd6	UTSW	10	94,044,052 (GRCm38)	missense	probably benign	0.37
R8960:Fgd6	UTSW	10	94,045,006 (GRCm38)	missense	probably benign	0.06
R8981:Fgd6	UTSW	10	94,045,054 (GRCm38)	missense	possibly damaging	0.80
R8989:Fgd6	UTSW	10	94,123,563 (GRCm38)	missense	probably damaging	0.97
R9609:Fgd6	UTSW	10	94,043,812 (GRCm38)	missense	probably damaging	0.99
RF031:Fgd6	UTSW	10	94,044,325 (GRCm38)	frame shift	probably null
RF040:Fgd6	UTSW	10	94,044,325 (GRCm38)	frame shift	probably null

Posted On

2012-12-06