Mutagenetix > Incidental Mutation

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

Essential gene?

Possibly non essential (E-score: 0.413) question?

Stock #

IGL03396

Quality Score

Status

Chromosome

Chromosomal Location

93871863-93981201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 93880318 bp (GRCm39)

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]

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: 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: 69,902,239 (GRCm39)	R457*	probably null	Het
Arl5b	C	A	2: 15,079,915 (GRCm39)	T153K	probably damaging	Het
Arsb	A	T	13: 94,075,825 (GRCm39)	Y436F	probably benign	Het
Azgp1	C	T	5: 137,983,445 (GRCm39)	P40L	possibly damaging	Het
B020004C17Rik	A	G	14: 57,253,993 (GRCm39)	T39A	possibly damaging	Het
Cacna2d3	G	A	14: 29,442,834 (GRCm39)	Q67*	probably null	Het
Cdcp2	C	A	4: 106,964,369 (GRCm39)	Y406*	probably null	Het
Cep89	T	A	7: 35,128,603 (GRCm39)	D585E	probably benign	Het
Cfap65	A	G	1: 74,943,801 (GRCm39)	F1570S	probably damaging	Het
Cnfn	A	G	7: 25,067,783 (GRCm39)		probably benign	Het
Fra10ac1	C	T	19: 38,189,994 (GRCm39)		probably null	Het
Gjd3	T	C	11: 102,691,353 (GRCm39)	K217E	probably benign	Het
Il20rb	T	C	9: 100,341,251 (GRCm39)	E285G	probably damaging	Het
Ints2	T	C	11: 86,103,888 (GRCm39)	T1086A	probably damaging	Het
Itih4	A	T	14: 30,609,906 (GRCm39)	I79F	probably damaging	Het
Jmjd6	A	T	11: 116,732,077 (GRCm39)	L208H	probably damaging	Het
Lilrb4b	A	G	10: 51,357,253 (GRCm39)	I30V	possibly damaging	Het
Limch1	A	G	5: 67,111,016 (GRCm39)	N81S	probably damaging	Het
Mettl21e	A	T	1: 44,245,759 (GRCm39)	N162K	possibly damaging	Het
Ninl	A	G	2: 150,808,132 (GRCm39)	S299P	possibly damaging	Het
Obscn	A	G	11: 58,964,404 (GRCm39)	L3046P	probably benign	Het
Or1j14	C	A	2: 36,417,692 (GRCm39)	S89R	probably benign	Het
Or5b98	T	A	19: 12,931,184 (GRCm39)	V77E	probably damaging	Het
Or6c68	A	G	10: 129,157,916 (GRCm39)	I141M	probably benign	Het
Pnpla8	G	A	12: 44,330,309 (GRCm39)	R287H	probably benign	Het
Pot1a	A	C	6: 25,745,913 (GRCm39)	I596R	possibly damaging	Het
Prkaa1	A	G	15: 5,206,131 (GRCm39)	D329G	probably damaging	Het
Ptprr	T	G	10: 116,024,235 (GRCm39)	V182G	probably damaging	Het
Rrp1b	T	A	17: 32,276,237 (GRCm39)		probably benign	Het
Sec24a	A	G	11: 51,599,794 (GRCm39)	V837A	probably benign	Het
Slc17a6	A	G	7: 51,318,840 (GRCm39)	Y494C	probably damaging	Het
Slc38a10	A	T	11: 120,019,301 (GRCm39)	I360N	probably damaging	Het
Snrpb2	T	C	2: 142,913,377 (GRCm39)	F194L	possibly damaging	Het
Tcam1	A	G	11: 106,176,212 (GRCm39)	I313V	probably benign	Het
Trpv1	A	G	11: 73,143,882 (GRCm39)	N238S	probably benign	Het
Usp20	T	C	2: 30,901,729 (GRCm39)	V498A	probably benign	Het
Vmn2r23	T	C	6: 123,706,585 (GRCm39)	S472P	probably damaging	Het
Vmn2r98	A	T	17: 19,290,107 (GRCm39)	T548S	possibly damaging	Het
Zfp429	A	T	13: 67,544,159 (GRCm39)		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
IGL02526:Fgd6	APN	10	93,936,373 (GRCm39)	missense	probably benign	0.21
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
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

2016-08-02