Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02526:Fgd6'

297101

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: 0.413) question?

Stock #

IGL02526

Quality Score

Status

Chromosome

Chromosomal Location

93871863-93981201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 93936373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 902 (N902S)

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: N902S

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: N902S

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: ENSMUST00000217189

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
Acad10	A	G	5: 121,784,923 (GRCm39)	V231A	probably damaging	Het
Aff4	T	C	11: 53,297,509 (GRCm39)		probably benign	Het
Ano2	G	A	6: 125,849,714 (GRCm39)		probably null	Het
Aspm	A	G	1: 139,417,457 (GRCm39)	E2818G	probably benign	Het
Atp2a3	C	A	11: 72,866,165 (GRCm39)	H262N	probably benign	Het
Caprin1	T	C	2: 103,605,948 (GRCm39)		probably benign	Het
Clca3a2	T	C	3: 144,793,779 (GRCm39)	H292R	probably benign	Het
Dnah11	G	A	12: 118,143,353 (GRCm39)	T430M	possibly damaging	Het
Grm3	A	G	5: 9,639,847 (GRCm39)	I66T	probably damaging	Het
H13	T	A	2: 152,530,602 (GRCm39)	F158L	probably damaging	Het
Kcnb2	A	G	1: 15,780,979 (GRCm39)	E617G	probably damaging	Het
Kcnh7	T	C	2: 62,680,781 (GRCm39)	S269G	possibly damaging	Het
Krit1	T	A	5: 3,872,103 (GRCm39)	I376N	probably damaging	Het
Lonrf2	T	A	1: 38,839,791 (GRCm39)	M435L	probably benign	Het
Map2	A	T	1: 66,419,876 (GRCm39)	D69V	possibly damaging	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Myh3	C	T	11: 66,978,371 (GRCm39)	P453S	probably benign	Het
Or51d1	T	A	7: 102,348,291 (GRCm39)	V282D	possibly damaging	Het
Pi4k2b	T	C	5: 52,925,081 (GRCm39)	F442L	probably damaging	Het
Pla2g12b	T	A	10: 59,252,275 (GRCm39)	C49S	probably damaging	Het
Polr2a	C	T	11: 69,630,293 (GRCm39)	R1258Q	probably benign	Het
Prmt8	A	C	6: 127,688,786 (GRCm39)	S195A	probably damaging	Het
Pwp1	T	A	10: 85,717,967 (GRCm39)		probably null	Het
Rxfp1	C	A	3: 79,578,153 (GRCm39)		probably null	Het
Skor1	A	T	9: 63,053,159 (GRCm39)	M270K	probably damaging	Het
Slc12a4	T	C	8: 106,676,438 (GRCm39)	N495D	possibly damaging	Het
Slc26a3	T	C	12: 31,507,095 (GRCm39)	V350A	probably damaging	Het
Slc44a4	T	A	17: 35,147,463 (GRCm39)	V430D	probably damaging	Het
Slit2	C	A	5: 48,461,565 (GRCm39)	C1537*	probably null	Het
Tas2r135	A	T	6: 42,383,214 (GRCm39)	H251L	probably damaging	Het
Tbr1	T	C	2: 61,642,042 (GRCm39)	F436L	probably benign	Het
Them6	A	T	15: 74,593,504 (GRCm39)	T121S	possibly damaging	Het
Tmem145	G	A	7: 25,007,657 (GRCm39)	M221I	probably benign	Het
Trrap	T	C	5: 144,761,360 (GRCm39)	V2300A	probably benign	Het
Usf3	C	A	16: 44,040,674 (GRCm39)	A1718D	possibly damaging	Het
Usp10	C	A	8: 120,675,514 (GRCm39)	S511Y	probably damaging	Het
Wdr38	A	T	2: 38,888,424 (GRCm39)	N7I	probably damaging	Het
Wnt9a	T	C	11: 59,219,331 (GRCm39)	F119S	probably damaging	Het
Zc3h7b	G	A	15: 81,677,338 (GRCm39)	G880S	probably benign	Het

Other mutations in Fgd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Fgd6	APN	10	93,879,496 (GRCm39)	missense	probably benign	0.01
IGL00975:Fgd6	APN	10	93,969,938 (GRCm39)	missense	probably damaging	0.98
IGL01366:Fgd6	APN	10	93,879,338 (GRCm39)	missense	possibly damaging	0.71
IGL01940:Fgd6	APN	10	93,925,512 (GRCm39)	splice site	probably null
IGL01958:Fgd6	APN	10	93,974,170 (GRCm39)	missense	probably benign	0.25
IGL01988:Fgd6	APN	10	93,910,197 (GRCm39)	splice site	probably benign
IGL02019:Fgd6	APN	10	93,969,216 (GRCm39)	missense	probably damaging	1.00
IGL02074:Fgd6	APN	10	93,963,297 (GRCm39)	missense	probably damaging	1.00
IGL02227:Fgd6	APN	10	93,969,946 (GRCm39)	missense	probably damaging	1.00
IGL02262:Fgd6	APN	10	93,961,490 (GRCm39)	missense	probably damaging	0.98
IGL02353:Fgd6	APN	10	93,974,258 (GRCm39)	missense	possibly damaging	0.82
IGL02360:Fgd6	APN	10	93,974,258 (GRCm39)	missense	possibly damaging	0.82
IGL02425:Fgd6	APN	10	93,910,064 (GRCm39)	missense	probably benign	0.00
IGL02607:Fgd6	APN	10	93,880,310 (GRCm39)	missense	possibly damaging	0.94
IGL02741:Fgd6	APN	10	93,959,152 (GRCm39)	missense	possibly damaging	0.65
IGL02870:Fgd6	APN	10	93,881,026 (GRCm39)	missense	probably damaging	1.00
IGL02884:Fgd6	APN	10	93,881,501 (GRCm39)	splice site	probably benign
IGL02995:Fgd6	APN	10	93,881,342 (GRCm39)	nonsense	probably null
IGL03189:Fgd6	APN	10	93,880,318 (GRCm39)	missense	probably benign	0.26
IGL03258:Fgd6	APN	10	93,969,215 (GRCm39)	missense	probably benign	0.44
IGL03396:Fgd6	APN	10	93,880,318 (GRCm39)	missense	probably benign	0.26
FR4449:Fgd6	UTSW	10	93,880,182 (GRCm39)	small deletion	probably benign
R0257:Fgd6	UTSW	10	93,879,777 (GRCm39)	missense	probably benign	0.11
R0926:Fgd6	UTSW	10	93,970,909 (GRCm39)	missense	probably benign	0.40
R1325:Fgd6	UTSW	10	93,963,289 (GRCm39)	missense	probably damaging	1.00
R1422:Fgd6	UTSW	10	93,881,234 (GRCm39)	missense	probably damaging	1.00
R1491:Fgd6	UTSW	10	93,880,694 (GRCm39)	missense	probably benign	0.06
R1593:Fgd6	UTSW	10	93,880,894 (GRCm39)	missense	probably damaging	1.00
R1624:Fgd6	UTSW	10	93,973,298 (GRCm39)	missense	probably benign	0.19
R1929:Fgd6	UTSW	10	93,880,868 (GRCm39)	missense	probably benign	0.01
R2064:Fgd6	UTSW	10	93,880,903 (GRCm39)	missense	probably damaging	0.98
R2965:Fgd6	UTSW	10	93,880,056 (GRCm39)	missense	probably benign	0.03
R2966:Fgd6	UTSW	10	93,880,056 (GRCm39)	missense	probably benign	0.03
R3889:Fgd6	UTSW	10	93,925,499 (GRCm39)	missense	probably damaging	1.00
R4094:Fgd6	UTSW	10	93,879,296 (GRCm39)	missense	probably damaging	1.00
R4605:Fgd6	UTSW	10	93,880,217 (GRCm39)	missense	probably benign	0.12
R4883:Fgd6	UTSW	10	93,975,715 (GRCm39)	missense	probably benign	0.00
R5217:Fgd6	UTSW	10	93,969,939 (GRCm39)	missense	possibly damaging	0.90
R5473:Fgd6	UTSW	10	93,880,538 (GRCm39)	missense	probably benign	0.00
R5606:Fgd6	UTSW	10	93,974,190 (GRCm39)	nonsense	probably null
R5644:Fgd6	UTSW	10	93,969,912 (GRCm39)	missense	possibly damaging	0.80
R6051:Fgd6	UTSW	10	93,973,427 (GRCm39)	critical splice donor site	probably null
R6258:Fgd6	UTSW	10	93,880,161 (GRCm39)	missense	probably benign	0.00
R6735:Fgd6	UTSW	10	93,910,182 (GRCm39)	missense	possibly damaging	0.94
R7181:Fgd6	UTSW	10	93,879,373 (GRCm39)	missense	probably benign	0.02
R7210:Fgd6	UTSW	10	93,969,954 (GRCm39)	missense	probably damaging	0.98
R7296:Fgd6	UTSW	10	93,975,743 (GRCm39)	missense	probably benign	0.02
R7296:Fgd6	UTSW	10	93,879,909 (GRCm39)	nonsense	probably null
R7697:Fgd6	UTSW	10	93,881,306 (GRCm39)	missense	probably damaging	0.99
R7747:Fgd6	UTSW	10	93,880,778 (GRCm39)	missense	probably damaging	1.00
R7861:Fgd6	UTSW	10	93,939,193 (GRCm39)	missense	probably benign	0.15
R7940:Fgd6	UTSW	10	93,956,344 (GRCm39)	missense	probably benign	0.02
R8022:Fgd6	UTSW	10	93,880,206 (GRCm39)	missense	possibly damaging	0.54
R8138:Fgd6	UTSW	10	93,970,005 (GRCm39)	missense	probably null	0.45
R8171:Fgd6	UTSW	10	93,910,194 (GRCm39)	critical splice donor site	probably null
R8189:Fgd6	UTSW	10	93,910,077 (GRCm39)	missense	probably benign	0.00
R8213:Fgd6	UTSW	10	93,879,914 (GRCm39)	missense	probably benign	0.37
R8960:Fgd6	UTSW	10	93,880,868 (GRCm39)	missense	probably benign	0.06
R8981:Fgd6	UTSW	10	93,880,916 (GRCm39)	missense	possibly damaging	0.80
R8989:Fgd6	UTSW	10	93,959,425 (GRCm39)	missense	probably damaging	0.97
R9609:Fgd6	UTSW	10	93,879,674 (GRCm39)	missense	probably damaging	0.99
RF031:Fgd6	UTSW	10	93,880,187 (GRCm39)	frame shift	probably null
RF040:Fgd6	UTSW	10	93,880,187 (GRCm39)	frame shift	probably null

Posted On

2015-04-16