Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4449:Fgd6'

511506

Institutional Source

Beutler Lab

Gene Symbol

Fgd6

Ensembl Gene

ENSMUSG00000020021

Gene Name

FYVE, RhoGEF and PH domain containing 6

Synonyms

Etohd4, ZFYVE24

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.522) question?

Stock #

FR4449 ()

Quality Score

131.457

Status

Not validated

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

small deletion (1 aa in frame mutation)

DNA Base Change (assembly)

GGAT to G at 94044320 bp (GRCm38)

Zygosity

Homozygous

Amino Acid Change

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

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021

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: 99.7%
3x: 99.5%
10x: 98.3%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	A	1: 37,625,035	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036	E594*	probably null	Homo
4932415D10Rik	TTCAGT	TT	10: 82,285,469		probably null	Homo
Akap9	GGTATTGCATTTCTTATCT	G	5: 3,981,214		probably benign	Homo
Amfr	C	G	8: 94,005,159	G30R	probably damaging	Homo
Anxa7	C	T	14: 20,469,411	G113E	probably damaging	Homo
Apc	AATAAAGC	AATAAAGCCGATAAAGC	18: 34,282,000		probably benign	Het
Apc	AGC	AGCCAATAACGC	18: 34,282,005		probably benign	Het
Apol6	TTT	TTTGATT	15: 77,051,443		probably null	Homo
Arid1b	CGG	CGGTGG	17: 4,995,589		probably benign	Het
B430218F22Rik	CGGCG	CGGCGATGGCG	13: 118,386,851		probably benign	Homo
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,908		probably benign	Het
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,116,336		probably benign	Het
Btnl10	AAG	AAGGAG	11: 58,923,928		probably benign	Homo
Cacna1a	ACC	ACCCCC	8: 84,638,714		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,720		probably benign	Het
Cacna1a	ACC	ACCGCC	8: 84,638,723		probably benign	Het
Calhm1	TGGC	TGGCTGTGGCTGCGGC	19: 47,141,274		probably benign	Het
Ccdc15	C	CTTTAT	9: 37,315,158		probably null	Het
Ccdc85c	CCG	CCGACG	12: 108,274,616		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,202,507		probably benign	Het
Cdhr2	AGTC	AGTCGTC	13: 54,725,924		probably benign	Homo
Cdk15	A	ATCTAAAAGG	1: 59,257,823		probably benign	Homo
Cdx1	GCTG	GCTGCTCCTG	18: 61,019,881		probably benign	Het
Cfap46	T	C	7: 139,638,795		probably benign	Homo
Cgref1	CTT	CTTATT	5: 30,933,778		probably null	Homo
Cgref1	TTC	TTCGTC	5: 30,933,776		probably benign	Het
Cluh	G	GACTGAA	11: 74,669,532		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,569		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,189,593		probably benign	Het
Cpne1	CCTACT	CCT	2: 156,073,502		probably benign	Homo
Cttnbp2	CTGCTG	CTGCTGTTGCTG	6: 18,367,462		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,500,856		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,674		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,686		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,583,696		probably benign	Het
Dhx8	CG	CGAGACAG	11: 101,738,206		probably benign	Het
Dhx8	G	GAGACCC	11: 101,738,207		probably benign	Het
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGAC	11: 101,738,190		probably benign	Het
Dhx8	AGACCG	AGACCGTGACCG	11: 101,738,184		probably benign	Homo
Dhx8	CG	CGAGACAG	11: 101,738,194		probably benign	Homo
Dspp	CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	5: 104,178,388		probably benign	Het
Dusp10	G	T	1: 184,037,056	C73F	probably damaging	Homo
Erich3	GA	GAGAA	3: 154,763,513		probably benign	Homo
Ermn	CTT	CTTGTT	2: 58,048,074		probably benign	Het
G530012D18Rik	GAGAGAGAGAGAGAGAGACAGAGA	GAGAGA	1: 85,577,180		probably benign	Homo
Gar1	GCCGCCTCCGCC	GCCGCC	3: 129,830,704		probably benign	Homo
Gatad2b	AGAC	A	3: 90,341,917		probably benign	Het
Gigyf2	C	T	1: 87,428,585		probably benign	Het
Gm16519	A	AGAT	17: 70,929,338		probably benign	Homo
Gm4340	AGC	AGCGGC	10: 104,196,082		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,085		probably benign	Het
Gm4340	GCA	GCATCA	10: 104,196,086		probably benign	Het
Gpatch11	AGGAAG	AGGAAGCGGAAG	17: 78,842,168		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 78,842,176		probably benign	Het
Gpatch11	GG	GGCAGACG	17: 78,842,181		probably benign	Het
Hoxa10	T	A	6: 52,234,186	Q250L	possibly damaging	Homo
Igkv12-89	GCA	GCAGCAGCAACA	6: 68,835,280		probably benign	Homo
Igsf10	G	A	3: 59,319,110	R2381C	probably damaging	Homo
Il17rd	GGC	GGCAGC	14: 27,082,678		probably benign	Het
Ints5	G	A	19: 8,897,230	R851Q	probably benign	Het
Isg20l2	AGA	AGAGGA	3: 87,931,713		probably benign	Het
Kcng4	G	T	8: 119,633,519	Y39*	probably null	Homo
Kifc5b	A	C	17: 26,924,217	E321A	probably benign	Het
Klra2	TCCACAG	TCCACAGAAACCCACAG	6: 131,221,846		probably null	Homo
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,361		probably benign	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,586,366		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,369		probably benign	Het
Krt10	ACC	ACCACCTCC	11: 99,389,267		probably benign	Het
Las1l	GA	GAGAA	X: 95,940,832		probably benign	Het
Lce1m	AC	ACTGCTGCTGCCGC	3: 93,018,152		probably benign	Het
Leo1	GTACCATGCA	G	9: 75,450,573		probably benign	Het
Lkaaear1	CA	CATCTCCAGCTCTA	2: 181,697,571		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,621,456		probably benign	Homo
Med12l	CAG	CAGTAG	3: 59,275,963		probably null	Het
Mgat4e	GTCGTAGTCATCGT	GTCGT	1: 134,540,997		probably benign	Homo
Mn1	GCA	GCAACA	5: 111,419,710		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCTGGCAGTGAG	19: 42,076,109		probably benign	Het
Nat8f2	T	A	6: 85,867,686	L231F	possibly damaging	Homo
Noc2l	C	CTGA	4: 156,240,101		probably benign	Het
Nrg3	T	TAGACAC	14: 38,397,271		probably benign	Het
Olfr890	A	G	9: 38,143,188	I13V	probably benign	Homo
Piezo1	G	A	8: 122,495,569	R503W	probably damaging	Homo
Pih1d2	CTCTTGCGAGGATC	CTC	9: 50,621,627		probably null	Homo
Pik3ap1	G	GGAA	19: 41,281,946		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336	G562V	probably damaging	Homo
Ptms	TTC	TTCGTC	6: 124,914,459		probably benign	Het
Ptpn23	G	T	9: 110,387,633	P1052T	probably benign	Homo
Qrich2	AACT	A	11: 116,456,199		probably benign	Homo
Raet1d	A	ATATCCTCTCTGG	10: 22,370,915		probably benign	Het
Rbm33	AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA	AGCAGCAGCAGCA	5: 28,394,168		probably benign	Homo
Rrbp1	TGCTTCTCAAAGGTGGCTGCCTTGGCTTC	TGCTTC	2: 143,967,456		probably null	Het
Sbp	CAACAAAGATGCTGA	CAACAAAGATGCTGAGAACAAAGATGCTGA	17: 23,945,364		probably benign	Het
Setd1a	G	A	7: 127,785,326		probably benign	Het
Sfswap	CCCACTCAG	CCCACTCAGTCCACTCAG	5: 129,569,748		probably benign	Het
Sfswap	CCACTCAGC	CCACTCAGCTCACTCAGC	5: 129,569,749		probably benign	Het
Sh3pxd2b	T	TGTCTGC	11: 32,423,065		probably benign	Homo
Six3	CGG	CGGGGG	17: 85,621,362		probably benign	Het
Slc12a1	C	CTTTGGCCACAACACG	2: 125,154,216		probably benign	Homo
Slc26a8	CTCTCTG	C	17: 28,638,316		probably benign	Het
Srebf2	G	T	15: 82,185,335	A693S	probably damaging	Homo
Sry	TGCTG	TGCTGCTG	Y: 2,662,832		probably benign	Homo
Sry	ACTG	ACTGCTG	Y: 2,662,818		probably benign	Het
Ston1	G	A	17: 88,635,525	V120M	probably benign	Homo
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,649		probably benign	Het
Tbl3	TG	TGTGG	17: 24,702,544		probably benign	Homo
Tctn3	AG	AGAAGCCG	19: 40,607,202		probably benign	Het
Tesk1	CCC	CCCACC	4: 43,447,002		probably benign	Homo
Tmc2	T	G	2: 130,240,196	V433G	probably damaging	Het
Tmprss13	G	A	9: 45,328,558	A55T	unknown	Het
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,839		probably null	Homo
Tob1	CAG	CAGAAG	11: 94,214,468		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,214,475		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,343,782		probably benign	Homo
Triobp	GTC	GTCTTC	15: 78,993,389		probably benign	Het
Ubtf	CCT	CCTACT	11: 102,306,948		probably null	Het
Vps13b	G	T	15: 35,846,957	A2629S	probably damaging	Homo
Xpnpep3	G	C	15: 81,427,422	D110H	possibly damaging	Het
Zc3h13	CGAGATGTG	CGAGATGTGTGAGATGTG	14: 75,323,601		probably null	Homo
Zfhx3	GCAACAGCA	GCAACAGCAACAACAGCA	8: 108,956,094		probably benign	Homo
Zfp26	C	A	9: 20,438,546	A241S	probably benign	Homo
Zfp335	CTC	CTCATC	2: 164,907,477		probably benign	Het
Zfp335	CTCT	CTCTTCT	2: 164,907,483		probably benign	Het
Zfp598	ACCACC	ACCACCTCCACC	17: 24,680,776		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,785		probably benign	Het
Zfp831	TCC	TCCACC	2: 174,645,471		probably benign	Het
Zfp831	CTC	CTCGTC	2: 174,645,482		probably benign	Het
Zfp978	G	T	4: 147,390,944	S316I	probably benign	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
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
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'- GGTCTCGGTCCTTTAGAAATCC -3'
(R):5'- AGTCTCTTTGTCCACAGCAGG -3'

Sequencing Primer
(F):5'- GTCCTTTAGAAATCCACTTACTACCG -3'
(R):5'- ACTGCTGTCAGAAGTCAAACTAG -3'

Posted On

2018-04-05