Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02074:Fgd6'

283352

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 #

IGL02074

Quality Score

Status

Chromosome

Chromosomal Location

93871863-93981201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93963297 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1132 (I1132F)

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 damaging
Transcript: ENSMUST00000020208
AA Change: I1132F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: I1132F

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	T	C	11: 110,184,176 (GRCm39)	S974G	probably benign	Het
Abi2	T	C	1: 60,486,466 (GRCm39)	V209A	probably damaging	Het
Ankrd33b	C	A	15: 31,297,807 (GRCm39)	V317F	probably damaging	Het
Arcn1	A	G	9: 44,670,309 (GRCm39)	C106R	probably benign	Het
Arhgap35	T	C	7: 16,296,980 (GRCm39)	H695R	probably benign	Het
Bag4	G	T	8: 26,259,383 (GRCm39)	T272K	possibly damaging	Het
Cnot6	T	C	11: 49,580,070 (GRCm39)	H74R	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Dab1	C	A	4: 104,585,051 (GRCm39)	A397D	possibly damaging	Het
Dhrs7b	C	A	11: 60,742,580 (GRCm39)	Q91K	probably benign	Het
Dixdc1	C	T	9: 50,613,317 (GRCm39)	V212M	probably benign	Het
Dnaaf11	T	C	15: 66,361,339 (GRCm39)	N54S	probably damaging	Het
Eea1	A	G	10: 95,873,349 (GRCm39)	E1137G	probably damaging	Het
Ercc8	T	C	13: 108,295,318 (GRCm39)		probably benign	Het
Fam163b	C	T	2: 27,003,570 (GRCm39)	C28Y	probably damaging	Het
Grin1	C	T	2: 25,188,514 (GRCm39)	V432I	possibly damaging	Het
Herc1	A	G	9: 66,358,265 (GRCm39)	S2449G	probably benign	Het
Herc2	T	A	7: 55,737,192 (GRCm39)		probably benign	Het
L1cam	A	G	X: 72,906,619 (GRCm39)	W275R	probably damaging	Het
Magi1	A	G	6: 93,722,579 (GRCm39)	V660A	probably damaging	Het
Mctp2	A	T	7: 71,811,006 (GRCm39)	I656K	probably damaging	Het
Mtcl1	T	C	17: 66,673,463 (GRCm39)	D633G	possibly damaging	Het
Nexmif	A	T	X: 103,131,497 (GRCm39)	M140K	probably damaging	Het
Or55b3	G	T	7: 102,126,679 (GRCm39)	H133N	probably benign	Het
Or7g33	A	T	9: 19,449,148 (GRCm39)	I26N	possibly damaging	Het
Or8d23	A	T	9: 38,841,979 (GRCm39)	T171S	probably benign	Het
R3hdm1	A	G	1: 128,096,775 (GRCm39)	T146A	possibly damaging	Het
Rnf123	A	T	9: 107,944,088 (GRCm39)	L508Q	probably damaging	Het
Scaf4	G	T	16: 90,039,808 (GRCm39)	P812T	unknown	Het
Slc45a2	A	G	15: 11,000,903 (GRCm39)	M1V	probably null	Het
Ttr	T	C	18: 20,799,580 (GRCm39)	V46A	probably benign	Het
Ubxn8	T	C	8: 34,113,206 (GRCm39)	K216R	possibly damaging	Het
Vmn2r109	T	C	17: 20,774,603 (GRCm39)	I251V	probably benign	Het
Xlr	A	T	X: 52,798,101 (GRCm39)		probably benign	Het
Zfp142	T	G	1: 74,609,022 (GRCm39)	H1488P	probably damaging	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
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
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