Mutagenetix > Incidental Mutation

Incidental Mutation 'R1929:Fgd6'

215195

Institutional Source

Beutler Lab

Gene Symbol

Fgd6

Ensembl Gene

ENSMUSG00000020021

Gene Name

FYVE, RhoGEF and PH domain containing 6

Synonyms

Etohd4, ZFYVE24

MMRRC Submission

039947-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.387) question?

Stock #

R1929 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 94045006 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 574 (V574A)

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: V574A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: V574A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

98% (107/109)

Allele List at MGI

Other mutations in this stock

Total: 103 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy10	A	T	1: 165,510,297 (GRCm38)	E160V	probably damaging	Het
Amdhd2	T	C	17: 24,157,886 (GRCm38)		probably null	Het
Angel1	A	C	12: 86,702,319 (GRCm38)	L656V	probably damaging	Het
Ankrd12	G	A	17: 65,986,686 (GRCm38)	S584L	possibly damaging	Het
Apbb2	T	A	5: 66,307,615 (GRCm38)	N679Y	probably benign	Het
Arid3c	T	A	4: 41,724,744 (GRCm38)	I364F	probably damaging	Het
Bcan	T	A	3: 87,993,094 (GRCm38)	S611C	probably damaging	Het
Bnip3	T	G	7: 138,894,630 (GRCm38)		silent	Het
Btc	T	C	5: 91,362,401 (GRCm38)	Y111C	probably damaging	Het
Carnmt1	T	C	19: 18,703,370 (GRCm38)	L336P	probably damaging	Het
Ccdc83	C	T	7: 90,224,077 (GRCm38)	V357I	probably damaging	Het
Cd2bp2	T	C	7: 127,193,878 (GRCm38)	D324G	probably benign	Het
Cdc20b	A	G	13: 113,071,917 (GRCm38)	T216A	probably benign	Het
Cdk17	T	C	10: 93,228,678 (GRCm38)	Y270H	probably damaging	Het
Cenpv	T	C	11: 62,525,233 (GRCm38)	E230G	probably benign	Het
Chst11	T	C	10: 83,191,170 (GRCm38)	Y144H	probably damaging	Het
Cracr2a	T	A	6: 127,607,298 (GRCm38)	F107I	probably damaging	Het
Cyfip1	G	T	7: 55,899,957 (GRCm38)	R624L	probably null	Het
Cyp27b1	T	A	10: 127,048,312 (GRCm38)	V11D	probably damaging	Het
Ddc	T	C	11: 11,835,764 (GRCm38)	N308D	probably damaging	Het
Des	T	G	1: 75,363,493 (GRCm38)	M348R	probably damaging	Het
Dis3l	T	A	9: 64,330,883 (GRCm38)	D109V	probably damaging	Het
Dnah3	T	A	7: 119,975,129 (GRCm38)	I2136F	probably benign	Het
Dnah9	T	C	11: 65,976,398 (GRCm38)	S2785G	probably benign	Het
Dop1a	T	G	9: 86,494,418 (GRCm38)	V235G	probably damaging	Het
Dtx3l	A	T	16: 35,933,689 (GRCm38)	D182E	possibly damaging	Het
Efcab6	A	G	15: 83,892,962 (GRCm38)		probably benign	Het
Elac2	T	A	11: 64,979,189 (GRCm38)	S27T	probably benign	Het
Emsy	T	G	7: 98,626,623 (GRCm38)	K352N	probably damaging	Het
Erbb4	T	C	1: 68,198,888 (GRCm38)	N814S	probably damaging	Het
Filip1	T	C	9: 79,819,930 (GRCm38)	E469G	probably damaging	Het
Fmo1	A	T	1: 162,833,855 (GRCm38)	D286E	probably damaging	Het
Fmo4	A	T	1: 162,799,047 (GRCm38)	I310N	possibly damaging	Het
Focad	A	G	4: 88,342,212 (GRCm38)	N902D	unknown	Het
Focad	A	G	4: 88,397,179 (GRCm38)	S1525G	probably benign	Het
Fras1	T	C	5: 96,667,437 (GRCm38)	W1338R	probably benign	Het
Fry	A	G	5: 150,400,924 (GRCm38)	I1151V	probably null	Het
Garin5b	T	A	7: 4,758,187 (GRCm38)	T509S	probably benign	Het
Gm10076	T	G	14: 105,681,870 (GRCm38)		noncoding transcript	Het
Gm5698	T	G	1: 30,977,961 (GRCm38)	D3A	probably damaging	Het
Gngt2	C	T	11: 95,845,146 (GRCm38)		probably benign	Het
Gsdma	T	C	11: 98,671,367 (GRCm38)		probably null	Het
Gtf2h3	A	T	5: 124,602,199 (GRCm38)		probably benign	Het
Hkdc1	T	C	10: 62,417,898 (GRCm38)	T35A	probably benign	Het
Irs1	T	C	1: 82,288,459 (GRCm38)	S679G	probably benign	Het
Itpr1	T	A	6: 108,493,755 (GRCm38)	C2214S	probably damaging	Het
Kcnh8	GAGACCAACGAGCAGCTGATGCTTCAGA	GAGA	17: 52,725,906 (GRCm38)	74	probably benign	Het
Kcnk16	A	G	14: 20,265,279 (GRCm38)	V72A	probably damaging	Het
Lipa	T	A	19: 34,510,890 (GRCm38)	R119*	probably null	Het
Matr3	T	A	18: 35,588,325 (GRCm38)		probably benign	Het
Med13l	T	G	5: 118,728,833 (GRCm38)	F651V	probably benign	Het
Mfsd11	T	C	11: 116,873,914 (GRCm38)	V388A	probably benign	Het
Mki67	C	T	7: 135,698,065 (GRCm38)	V1747I	possibly damaging	Het
Mms22l	T	C	4: 24,535,936 (GRCm38)		probably benign	Het
Msh5	A	G	17: 35,044,390 (GRCm38)	I154T	probably benign	Het
Myo5b	G	T	18: 74,733,925 (GRCm38)	L1382F	probably damaging	Het
Ncbp2	T	C	16: 31,956,951 (GRCm38)	Y138H	probably damaging	Het
Ndufv1	C	A	19: 4,008,347 (GRCm38)	R359L	probably benign	Het
Ntrk3	A	C	7: 78,516,723 (GRCm38)		probably null	Het
Or1e1c	T	A	11: 73,375,601 (GRCm38)	V287E	probably damaging	Het
Or4a15	A	G	2: 89,363,009 (GRCm38)	V140A	probably benign	Het
Or8b12i	T	A	9: 20,171,409 (GRCm38)	H54L	possibly damaging	Het
P4ha1	A	G	10: 59,371,037 (GRCm38)	E523G	probably damaging	Het
Per3	T	A	4: 151,018,885 (GRCm38)	Y530F	probably damaging	Het
Pes1	C	A	11: 3,969,524 (GRCm38)	L66I	probably damaging	Het
Pigr	G	A	1: 130,846,662 (GRCm38)		probably benign	Het
Pkd1l1	A	T	11: 8,836,197 (GRCm38)		probably benign	Het
Plch1	T	A	3: 63,744,535 (GRCm38)	K378N	probably damaging	Het
Plxnb1	T	C	9: 109,102,708 (GRCm38)		probably null	Het
Pramel22	G	A	4: 143,654,142 (GRCm38)	T437I	probably damaging	Het
Prkdc	A	G	16: 15,654,817 (GRCm38)		probably null	Het
Prrc1	G	T	18: 57,381,646 (GRCm38)	D312Y	probably damaging	Het
Psma5-ps	A	G	10: 85,313,731 (GRCm38)		noncoding transcript	Het
Rab3gap2	T	A	1: 185,283,542 (GRCm38)		probably null	Het
Rgs3	A	G	4: 62,702,147 (GRCm38)	I537V	probably damaging	Het
Rhobtb2	T	G	14: 69,796,444 (GRCm38)	D444A	probably damaging	Het
Rnf40	T	C	7: 127,591,784 (GRCm38)	S314P	probably damaging	Het
Rngtt	T	A	4: 33,500,302 (GRCm38)	C565*	probably null	Het
Samd3	A	G	10: 26,263,986 (GRCm38)		probably benign	Het
Sec61a2	A	G	2: 5,873,736 (GRCm38)		probably benign	Het
Serpina3m	G	A	12: 104,389,322 (GRCm38)	A83T	probably damaging	Het
Serpinb13	A	T	1: 106,999,026 (GRCm38)	I251L	possibly damaging	Het
Sez6	C	T	11: 77,972,932 (GRCm38)	T439I	probably damaging	Het
Shc1	G	A	3: 89,423,542 (GRCm38)	G91S	probably damaging	Het
Slc26a2	A	G	18: 61,198,578 (GRCm38)	C594R	possibly damaging	Het
Specc1l	C	T	10: 75,245,604 (GRCm38)	S278F	probably damaging	Het
Spg11	C	T	2: 122,060,207 (GRCm38)	V2044M	probably damaging	Het
Stx18	T	A	5: 38,128,039 (GRCm38)		probably null	Het
Suclg2	T	C	6: 95,589,094 (GRCm38)		probably benign	Het
Tlr4	A	T	4: 66,839,444 (GRCm38)	H158L	probably damaging	Het
Tmem131	A	G	1: 36,812,271 (GRCm38)	V966A	possibly damaging	Het
Tram1l1	T	A	3: 124,321,986 (GRCm38)	I265N	probably damaging	Het
Trim58	T	A	11: 58,640,667 (GRCm38)	F67Y	possibly damaging	Het
Ttc19	A	G	11: 62,281,824 (GRCm38)	Q74R	probably benign	Het
Usp7	T	C	16: 8,698,469 (GRCm38)	S649G	probably benign	Het
Vmn2r16	A	G	5: 109,339,258 (GRCm38)	Y115C	possibly damaging	Het
Zfp444	T	C	7: 6,189,555 (GRCm38)	C191R	probably damaging	Het
Zfp451	G	A	1: 33,783,856 (GRCm38)	P99S	probably benign	Het
Zfp451	A	G	1: 33,782,193 (GRCm38)	F151L	probably damaging	Het
Zfp729b	A	T	13: 67,592,233 (GRCm38)	C648S	probably damaging	Het
Zfp799	A	G	17: 32,821,803 (GRCm38)	Y58H	probably damaging	Het
Zfp804b	A	G	5: 6,769,748 (GRCm38)	V1069A	probably benign	Het
Zfp938	C	T	10: 82,225,547 (GRCm38)	G413D	probably damaging	Het

Other mutations in Fgd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Fgd6	APN	10	94,043,634 (GRCm38)	missense	probably benign	0.01
IGL00975:Fgd6	APN	10	94,134,076 (GRCm38)	missense	probably damaging	0.98
IGL01366:Fgd6	APN	10	94,043,476 (GRCm38)	missense	possibly damaging	0.71
IGL01940:Fgd6	APN	10	94,089,650 (GRCm38)	splice site	probably null
IGL01958:Fgd6	APN	10	94,138,308 (GRCm38)	missense	probably benign	0.25
IGL01988:Fgd6	APN	10	94,074,335 (GRCm38)	splice site	probably benign
IGL02019:Fgd6	APN	10	94,133,354 (GRCm38)	missense	probably damaging	1.00
IGL02074:Fgd6	APN	10	94,127,435 (GRCm38)	missense	probably damaging	1.00
IGL02227:Fgd6	APN	10	94,134,084 (GRCm38)	missense	probably damaging	1.00
IGL02262:Fgd6	APN	10	94,125,628 (GRCm38)	missense	probably damaging	0.98
IGL02353:Fgd6	APN	10	94,138,396 (GRCm38)	missense	possibly damaging	0.82
IGL02360:Fgd6	APN	10	94,138,396 (GRCm38)	missense	possibly damaging	0.82
IGL02425:Fgd6	APN	10	94,074,202 (GRCm38)	missense	probably benign	0.00
IGL02526:Fgd6	APN	10	94,100,511 (GRCm38)	missense	probably benign	0.21
IGL02607:Fgd6	APN	10	94,044,448 (GRCm38)	missense	possibly damaging	0.94
IGL02741:Fgd6	APN	10	94,123,290 (GRCm38)	missense	possibly damaging	0.65
IGL02870:Fgd6	APN	10	94,045,164 (GRCm38)	missense	probably damaging	1.00
IGL02884:Fgd6	APN	10	94,045,639 (GRCm38)	splice site	probably benign
IGL02995:Fgd6	APN	10	94,045,480 (GRCm38)	nonsense	probably null
IGL03189:Fgd6	APN	10	94,044,456 (GRCm38)	missense	probably benign	0.26
IGL03258:Fgd6	APN	10	94,133,353 (GRCm38)	missense	probably benign	0.44
IGL03396:Fgd6	APN	10	94,044,456 (GRCm38)	missense	probably benign	0.26
FR4449:Fgd6	UTSW	10	94,044,320 (GRCm38)	small deletion	probably benign
R0257:Fgd6	UTSW	10	94,043,915 (GRCm38)	missense	probably benign	0.11
R0926:Fgd6	UTSW	10	94,135,047 (GRCm38)	missense	probably benign	0.40
R1325:Fgd6	UTSW	10	94,127,427 (GRCm38)	missense	probably damaging	1.00
R1422:Fgd6	UTSW	10	94,045,372 (GRCm38)	missense	probably damaging	1.00
R1491:Fgd6	UTSW	10	94,044,832 (GRCm38)	missense	probably benign	0.06
R1593:Fgd6	UTSW	10	94,045,032 (GRCm38)	missense	probably damaging	1.00
R1624:Fgd6	UTSW	10	94,137,436 (GRCm38)	missense	probably benign	0.19
R2064:Fgd6	UTSW	10	94,045,041 (GRCm38)	missense	probably damaging	0.98
R2965:Fgd6	UTSW	10	94,044,194 (GRCm38)	missense	probably benign	0.03
R2966:Fgd6	UTSW	10	94,044,194 (GRCm38)	missense	probably benign	0.03
R3889:Fgd6	UTSW	10	94,089,637 (GRCm38)	missense	probably damaging	1.00
R4094:Fgd6	UTSW	10	94,043,434 (GRCm38)	missense	probably damaging	1.00
R4605:Fgd6	UTSW	10	94,044,355 (GRCm38)	missense	probably benign	0.12
R4883:Fgd6	UTSW	10	94,139,853 (GRCm38)	missense	probably benign	0.00
R5217:Fgd6	UTSW	10	94,134,077 (GRCm38)	missense	possibly damaging	0.90
R5473:Fgd6	UTSW	10	94,044,676 (GRCm38)	missense	probably benign	0.00
R5606:Fgd6	UTSW	10	94,138,328 (GRCm38)	nonsense	probably null
R5644:Fgd6	UTSW	10	94,134,050 (GRCm38)	missense	possibly damaging	0.80
R6051:Fgd6	UTSW	10	94,137,565 (GRCm38)	critical splice donor site	probably null
R6258:Fgd6	UTSW	10	94,044,299 (GRCm38)	missense	probably benign	0.00
R6735:Fgd6	UTSW	10	94,074,320 (GRCm38)	missense	possibly damaging	0.94
R7181:Fgd6	UTSW	10	94,043,511 (GRCm38)	missense	probably benign	0.02
R7210:Fgd6	UTSW	10	94,134,092 (GRCm38)	missense	probably damaging	0.98
R7296:Fgd6	UTSW	10	94,139,881 (GRCm38)	missense	probably benign	0.02
R7296:Fgd6	UTSW	10	94,044,047 (GRCm38)	nonsense	probably null
R7697:Fgd6	UTSW	10	94,045,444 (GRCm38)	missense	probably damaging	0.99
R7747:Fgd6	UTSW	10	94,044,916 (GRCm38)	missense	probably damaging	1.00
R7861:Fgd6	UTSW	10	94,103,331 (GRCm38)	missense	probably benign	0.15
R7940:Fgd6	UTSW	10	94,120,482 (GRCm38)	missense	probably benign	0.02
R8022:Fgd6	UTSW	10	94,044,344 (GRCm38)	missense	possibly damaging	0.54
R8138:Fgd6	UTSW	10	94,134,143 (GRCm38)	missense	probably null	0.45
R8171:Fgd6	UTSW	10	94,074,332 (GRCm38)	critical splice donor site	probably null
R8189:Fgd6	UTSW	10	94,074,215 (GRCm38)	missense	probably benign	0.00
R8213:Fgd6	UTSW	10	94,044,052 (GRCm38)	missense	probably benign	0.37
R8960:Fgd6	UTSW	10	94,045,006 (GRCm38)	missense	probably benign	0.06
R8981:Fgd6	UTSW	10	94,045,054 (GRCm38)	missense	possibly damaging	0.80
R8989:Fgd6	UTSW	10	94,123,563 (GRCm38)	missense	probably damaging	0.97
R9609:Fgd6	UTSW	10	94,043,812 (GRCm38)	missense	probably damaging	0.99
RF031:Fgd6	UTSW	10	94,044,325 (GRCm38)	frame shift	probably null
RF040:Fgd6	UTSW	10	94,044,325 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTTGTAGAAAAGAGCTCTTCAG -3'
(R):5'- GTGTTGGCAGCTTTTCGACC -3'

Sequencing Primer
(F):5'- CTCTTCAGGTAAGGAGACAAATGTC -3'
(R):5'- CGACCTAATTTTCTGAAAGTCGC -3'

Posted On

2014-07-14