Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02870:Fgd6'

362554

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

Is this an essential gene?

Possibly essential (E-score: 0.567) question?

Stock #

IGL02870

Quality Score

Status

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94045164 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 627 (S627P)

Ref Sequence

ENSEMBL: ENSMUSP00000020208 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020208]

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: S627P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: S627P

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	C	T	13: 81,563,732	V1042M	probably benign	Het
Agmat	C	A	4: 141,746,942	H45N	probably benign	Het
Akap13	T	A	7: 75,609,188	V520D	probably damaging	Het
Ccser1	T	A	6: 61,311,292	N146K	probably damaging	Het
Cdhr4	T	A	9: 107,998,064		probably null	Het
Col4a1	G	A	8: 11,221,375	T753I	probably benign	Het
Cyp3a59	T	C	5: 146,098,184	I224T	probably benign	Het
Ddx19a	G	T	8: 110,983,626	P114Q	probably damaging	Het
Eftud2	A	G	11: 102,862,626	V275A	probably damaging	Het
Flywch1	C	T	17: 23,755,902	G541D	probably damaging	Het
Grk2	T	C	19: 4,290,402	D317G	probably damaging	Het
H2-M5	T	C	17: 36,989,033	E83G	probably benign	Het
Hltf	T	C	3: 20,099,873	F658L	probably damaging	Het
Hmmr	G	T	11: 40,714,075	Q390K	possibly damaging	Het
Lama1	G	A	17: 67,804,536	G2261R	probably damaging	Het
Nsd1	A	T	13: 55,313,603	T2548S	probably benign	Het
Olfr341	G	A	2: 36,480,031	A33V	probably benign	Het
P3h1	C	T	4: 119,247,571	R684W	probably damaging	Het
Peli2	G	A	14: 48,256,265	V315M	probably damaging	Het
Pfkl	T	A	10: 78,000,839	K115*	probably null	Het
Plcxd1	A	G	5: 110,101,405	T33A	probably damaging	Het
Ranbp17	A	G	11: 33,243,262	S931P	probably damaging	Het
Retsat	T	C	6: 72,607,024	Y500H	probably damaging	Het
Rfx8	C	T	1: 39,683,711	V249I	possibly damaging	Het
Runx1t1	A	T	4: 13,889,867	I599L	unknown	Het
Sardh	A	T	2: 27,235,491	I337N	possibly damaging	Het
Serpinb7	A	T	1: 107,450,287	M237L	probably damaging	Het
Slc35f1	A	G	10: 52,933,207	S97G	possibly damaging	Het
Stab1	T	C	14: 31,139,397	D2520G	probably benign	Het
Tnfrsf11b	C	T	15: 54,256,027	V184M	probably benign	Het
Trpv4	A	T	5: 114,625,056	V764E	probably damaging	Het
Tsc22d1	C	A	14: 76,417,617	A430E	probably benign	Het
Ttn	T	C	2: 76,750,605	R23315G	probably damaging	Het
Txnrd1	A	G	10: 82,895,979	I478M	probably benign	Het
Ush2a	T	C	1: 188,678,358	V2401A	probably benign	Het
Vill	T	C	9: 119,061,899	L191P	probably damaging	Het
Vmn1r30	A	G	6: 58,435,370	V159A	probably benign	Het
Washc4	T	A	10: 83,585,876	N939K	probably benign	Het
Wdfy3	A	G	5: 101,855,471	V2926A	probably damaging	Het
Wdr7	T	C	18: 63,791,843	S966P	probably benign	Het
Zfp12	C	A	5: 143,245,331	T471N	probably 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
IGL01940:Fgd6	APN	10	94089650	splice site	probably null
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
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
R7944:Fgd6	UTSW	10	94103331	missense	probably benign	0.15
R8022:Fgd6	UTSW	10	94044344	missense	possibly damaging	0.54
RF031:Fgd6	UTSW	10	94044325	frame shift	probably null
RF040:Fgd6	UTSW	10	94044325	frame shift	probably null

Posted On

2015-12-18