Mutagenetix > Incidental Mutation

Incidental Mutation 'R8138:Fgd6'

632363

Institutional Source

Beutler Lab

Gene Symbol

Fgd6

Ensembl Gene

ENSMUSG00000020021

Gene Name

FYVE, RhoGEF and PH domain containing 6

Synonyms

Etohd4, ZFYVE24

MMRRC Submission

067566-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.522) question?

Stock #

R8138 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 94134143 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1218 (K1218R)

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 null
Transcript: ENSMUST00000020208
AA Change: K1218R

PolyPhen 2 Score 0.447 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: K1218R

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: 99.8%
3x: 99.6%
10x: 98.9%
20x: 96.5%

Validation Efficiency

98% (52/53)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abat	A	G	16: 8,600,965	D141G	probably benign	Het
Abcc1	A	G	16: 14,472,887	T1454A	probably damaging	Het
Acan	C	A	7: 79,098,427	T982N	probably benign	Het
Adam5	A	G	8: 24,781,762	L543P	probably damaging	Het
Akap13	T	A	7: 75,702,231		probably null	Het
Akirin1	G	A	4: 123,743,445	P116S	probably benign	Het
Bzw2	T	C	12: 36,109,820	D236G	probably benign	Het
C1qtnf2	G	A	11: 43,486,011	G70D	probably damaging	Het
Cd44	A	G	2: 102,832,497	I566T	probably benign	Het
Cltb	C	T	13: 54,598,783	D135N	possibly damaging	Het
Cpeb2	T	C	5: 43,235,009	V516A		Het
Cx3cr1	A	T	9: 120,051,583	M251K	possibly damaging	Het
Ect2l	A	T	10: 18,169,405	S301T	probably damaging	Het
Fsip2	T	C	2: 82,975,797	V820A	possibly damaging	Het
Gnas	A	G	2: 174,298,386	E116G	probably benign	Het
Greb1l	T	C	18: 10,533,060	Y985H	probably benign	Het
Gtpbp3	T	C	8: 71,492,598	L438P	probably damaging	Het
Habp4	A	G	13: 64,176,070	D269G	possibly damaging	Het
Igf2r	A	T	17: 12,701,238	S1405T	probably benign	Het
Il17rc	A	G	6: 113,482,539	D482G	probably damaging	Het
Kmt2d	A	G	15: 98,843,653	I4542T	unknown	Het
Lag3	A	G	6: 124,905,492	V347A	probably damaging	Het
Lmtk2	C	T	5: 144,175,597	S1045L	probably damaging	Het
Mblac2	A	G	13: 81,711,650	D41G	probably damaging	Het
Mfsd6	C	T	1: 52,709,512	V65I	probably benign	Het
Neb	A	G	2: 52,175,695	V6175A	possibly damaging	Het
Nin	A	G	12: 70,042,898	S1248P		Het
Nlrp4b	A	T	7: 10,715,531	M554L	probably benign	Het
Olfr1055	T	C	2: 86,347,586	Y60C	possibly damaging	Het
Olfr235	G	A	19: 12,269,072	V281M	possibly damaging	Het
Olfr483	A	T	7: 108,103,557	S83C	possibly damaging	Het
Olfr613	T	A	7: 103,552,059	H91Q	probably benign	Het
Pik3r4	C	A	9: 105,669,035	S861R	possibly damaging	Het
Ppp1r16a	T	C	15: 76,691,721	V95A	probably damaging	Het
Prss40	T	C	1: 34,557,999	Q156R	probably damaging	Het
Rhbdd3	CACCATGGCTGCTACCATGGCTGCT	CACCATGGCTGCT	11: 5,104,303		probably benign	Het
Rnf170	T	C	8: 26,125,981		probably null	Het
Smlr1	A	G	10: 25,536,041	V16A	probably benign	Het
Sowahb	A	G	5: 93,043,483	L459P	probably benign	Het
Srebf2	C	T	15: 82,178,765	R468C	probably damaging	Het
Tpo	T	C	12: 30,074,104	D899G	probably benign	Het
Traj7	C	T	14: 54,211,525	P19S		Het
Trit1	G	A	4: 123,043,789	W131*	probably null	Het
Vcpip1	GGGAGGCGGCGGCGGCGGCAGCGGAGGAGGCGGCGGCGGC	GGGAGGAGGCGGCGGCGGC	1: 9,748,109		probably benign	Het
Vmn1r4	A	G	6: 56,957,406	*298W	probably null	Het
Vmn2r124	T	A	17: 18,063,348	W435R	probably damaging	Het
Zbtb41	C	T	1: 139,441,807	R641C	probably damaging	Het
Zfp84	T	A	7: 29,775,372	F23Y	probably damaging	Het
Zfp879	G	T	11: 50,833,448	Y260*	probably null	Het
Zswim9	A	T	7: 13,261,411	F273Y	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
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
R7940:Fgd6	UTSW	10	94120482	missense	probably benign	0.02
R8022:Fgd6	UTSW	10	94044344	missense	possibly damaging	0.54
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'- TCGGCACCATAGAAGCCTAC -3'
(R):5'- GAAGAGAGTCCCTAACAATATTCCC -3'

Sequencing Primer
(F):5'- CCTACCGAAAAGATGTGGTTCTATCC -3'
(R):5'- GAGTCCCTAACAATATTCCCCACTC -3'

Posted On

2020-06-30