Mutagenetix > Incidental Mutation

Incidental Mutation 'R2965:Fgd6'

256029

Institutional Source

Beutler Lab

Gene Symbol

Fgd6

Ensembl Gene

ENSMUSG00000020021

Gene Name

FYVE, RhoGEF and PH domain containing 6

Synonyms

Etohd4, ZFYVE24

MMRRC Submission

040521-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.522) question?

Stock #

R2965 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 94044194 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 303 (F303L)

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: F303L

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: F303L

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

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	C	T	7: 41,626,405	R511*	probably null	Het
4930430A15Rik	A	T	2: 111,204,019	S359T	possibly damaging	Het
Add1	C	A	5: 34,630,714	D702E	probably benign	Het
Aff3	A	G	1: 38,209,710	I772T	probably damaging	Het
Ankar	T	C	1: 72,675,820	I382V	probably benign	Het
Anks1	A	G	17: 28,053,905	T925A	probably benign	Het
Asprv1	T	A	6: 86,628,366	C65S	probably damaging	Het
Atp8a1	T	C	5: 67,647,706	D1022G	probably benign	Het
Cep250	A	G	2: 155,994,878	K2256E	probably benign	Het
Chsy1	G	A	7: 66,172,164	G716R	probably damaging	Het
Cntln	T	C	4: 84,974,027		probably null	Het
Col13a1	G	A	10: 61,961,331	R106W	probably damaging	Het
Col2a1	A	G	15: 97,976,095	I1402T	unknown	Het
Col4a3	T	C	1: 82,648,600	L86P	unknown	Het
Cul9	A	G	17: 46,502,228	V2355A	probably damaging	Het
Ddx43	C	A	9: 78,406,379	Y197*	probably null	Het
Dnah7b	T	A	1: 46,207,572	I1636N	probably damaging	Het
Dpysl5	G	A	5: 30,791,597	D399N	probably damaging	Het
Dyrk2	T	A	10: 118,860,337	K339*	probably null	Het
Fam187b	A	C	7: 30,977,729	D221A	probably benign	Het
Fbxw21	A	G	9: 109,145,510	I314T	probably benign	Het
Fstl3	T	C	10: 79,781,223	V200A	probably benign	Het
Gm10784	A	T	13: 49,945,197		noncoding transcript	Het
Gpr45	G	A	1: 43,032,508	D104N	possibly damaging	Het
Gria1	C	T	11: 57,185,801	Q8*	probably null	Het
H2-T22	A	G	17: 36,040,645	L231S	probably damaging	Het
Ice1	A	T	13: 70,602,578	D1796E	probably benign	Het
Ing1	T	A	8: 11,561,641	S26R	probably benign	Het
Klhl2	C	T	8: 64,752,760	V376M	probably benign	Het
Lrriq1	A	G	10: 103,214,900	S664P	probably benign	Het
Ltf	G	T	9: 111,028,472	C443F	possibly damaging	Het
Mgam	T	C	6: 40,768,220	V1807A	possibly damaging	Het
Mnd1	C	A	3: 84,134,109	C62F	probably benign	Het
Mycbp2	A	G	14: 103,297,358	V304A	probably benign	Het
Nek10	T	C	14: 14,836,202	L141P	probably damaging	Het
Noa1	T	C	5: 77,306,344	E483G	possibly damaging	Het
Olfr1453	C	T	19: 13,028,048	A94T	probably benign	Het
Pkd1l1	T	A	11: 8,874,236	S1110C	probably damaging	Het
Ppp4r4	T	C	12: 103,612,821	S873P	probably damaging	Het
Prss35	A	G	9: 86,755,582	D135G	probably damaging	Het
Pth	T	C	7: 113,385,929	H79R	probably benign	Het
Rab21	T	C	10: 115,294,909	N164S	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,579,908		probably benign	Het
Slc4a5	C	T	6: 83,296,669	T997I	probably damaging	Het
Ssrp1	A	G	2: 85,041,586	T385A	possibly damaging	Het
Tcf15	T	C	2: 152,143,951	I109T	probably damaging	Het
Tcp11	C	A	17: 28,069,265	D330Y	probably benign	Het
Tktl2	T	A	8: 66,512,063	V91E	probably benign	Het
Usp48	G	A	4: 137,613,762	V358M	probably damaging	Het
Vmn1r228	A	G	17: 20,776,347	I303T	probably damaging	Het
Zfp229	T	G	17: 21,746,029	H413Q	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
IGL02870:Fgd6	APN	10	94045164	missense	probably damaging	1.00
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
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
R7940:Fgd6	UTSW	10	94120482	missense	probably benign	0.02
R8022:Fgd6	UTSW	10	94044344	missense	possibly damaging	0.54
R8138:Fgd6	UTSW	10	94134143	missense	probably null	0.45
R8171:Fgd6	UTSW	10	94074332	critical splice donor site	probably null
R8189:Fgd6	UTSW	10	94074215	missense	probably benign	0.00
R8213:Fgd6	UTSW	10	94044052	missense	probably benign	0.37
R8960:Fgd6	UTSW	10	94045006	missense	probably benign	0.06
R8981:Fgd6	UTSW	10	94045054	missense	possibly damaging	0.80
R8989:Fgd6	UTSW	10	94123563	missense	probably damaging	0.97
R9609:Fgd6	UTSW	10	94043812	missense	probably damaging	0.99
RF031:Fgd6	UTSW	10	94044325	frame shift	probably null
RF040:Fgd6	UTSW	10	94044325	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGTTCCCGCTCATCACAACTG -3'
(R):5'- GTCCCTGGTTATACAAAGCATTCTG -3'

Sequencing Primer
(F):5'- CTTCCTAGGGATGAATCTCAGAC -3'
(R):5'- GGTTATACAAAGCATTCTGACGAAG -3'

Posted On

2014-12-29