Mutagenetix > Incidental Mutation

Incidental Mutation 'R7296:Fgd6'

571640

Institutional Source

Beutler Lab

Gene Symbol

Fgd6

Ensembl Gene

ENSMUSG00000020021

Gene Name

FYVE, RhoGEF and PH domain containing 6

Synonyms

Etohd4, ZFYVE24

MMRRC Submission

045400-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.472) question?

Stock #

R7296 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 94044047 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 254 (C254*)

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: C254*

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: C254*

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (85/87)

Allele List at MGI

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700066M21Rik	T	A	1: 57,383,143 (GRCm38)	M226K	probably benign	Het
2010300C02Rik	T	C	1: 37,614,618 (GRCm38)	T1036A	possibly damaging	Het
4921524L21Rik	T	G	18: 6,626,385 (GRCm38)	S132R	probably damaging	Het
A4gnt	T	G	9: 99,620,282 (GRCm38)	I165S	probably damaging	Het
Abca14	G	A	7: 120,278,311 (GRCm38)	D1061N	probably benign	Het
Abcc9	G	A	6: 142,671,593 (GRCm38)	P582S	probably damaging	Het
Abhd5	G	A	9: 122,379,573 (GRCm38)	V343I	probably benign	Het
Adam6a	C	T	12: 113,545,572 (GRCm38)	R522C	probably damaging	Het
Ankle2	G	A	5: 110,237,724 (GRCm38)	R313H	probably damaging	Het
Aplf	G	A	6: 87,646,215 (GRCm38)	T315I	probably damaging	Het
Arntl2	G	A	6: 146,822,134 (GRCm38)	V321I	not run	Het
Asic5	C	T	3: 82,021,076 (GRCm38)	P491S	probably benign	Het
Atp5b	T	C	10: 128,085,522 (GRCm38)	Y230H	probably benign	Het
B4galt6	A	T	18: 20,728,042 (GRCm38)	I51N	probably damaging	Het
C4b	A	G	17: 34,743,659 (GRCm38)	L23S	probably damaging	Het
C77080	A	G	4: 129,225,418 (GRCm38)	Y170H	probably damaging	Het
Cables2	A	G	2: 180,260,336 (GRCm38)	V410A		Het
Cdyl	A	G	13: 35,863,395 (GRCm38)	M489V	probably damaging	Het
Clip4	T	C	17: 71,790,001 (GRCm38)	M40T	probably damaging	Het
Col12a1	T	C	9: 79,682,066 (GRCm38)	Y1069C	probably damaging	Het
Col6a3	T	C	1: 90,827,986 (GRCm38)	M194V	probably benign	Het
Colec11	T	A	12: 28,594,715 (GRCm38)	D260V	probably damaging	Het
Cux2	T	C	5: 121,861,256 (GRCm38)	D1207G	probably benign	Het
Cyp2d34	G	T	15: 82,617,235 (GRCm38)	N297K	possibly damaging	Het
Dmbt1	A	G	7: 131,112,132 (GRCm38)	Y1643C	unknown	Het
Dnmt3c	A	G	2: 153,715,026 (GRCm38)	T288A	probably benign	Het
Dock8	T	A	19: 25,184,881 (GRCm38)	F1842I	probably benign	Het
Dysf	A	G	6: 84,106,898 (GRCm38)	I740V	probably benign	Het
Epha6	T	A	16: 59,915,838 (GRCm38)	M778L	probably benign	Het
Eri2	A	T	7: 119,786,516 (GRCm38)	L254*	probably null	Het
Fam129b	T	C	2: 32,922,642 (GRCm38)	S468P	possibly damaging	Het
Fam43b	A	G	4: 138,395,841 (GRCm38)	F56S	probably damaging	Het
Fat4	C	A	3: 38,889,145 (GRCm38)	S729*	probably null	Het
Fbxw22	C	A	9: 109,382,075 (GRCm38)	W386L	probably benign	Het
Fkbp7	G	T	2: 76,671,764 (GRCm38)	D98E	possibly damaging	Het
Gm8251	T	A	1: 44,060,916 (GRCm38)	K341*	probably null	Het
Hectd1	C	T	12: 51,785,852 (GRCm38)	C913Y	possibly damaging	Het
Hgf	T	A	5: 16,564,843 (GRCm38)	M105K	probably benign	Het
Icam1	A	C	9: 21,019,015 (GRCm38)	D55A	probably benign	Het
Itga2	A	C	13: 114,857,394 (GRCm38)		probably null	Het
Kcnj5	A	C	9: 32,322,749 (GRCm38)	L90R	probably damaging	Het
Klra17	T	A	6: 129,831,592 (GRCm38)	N226I	possibly damaging	Het
Krt1	T	A	15: 101,850,629 (GRCm38)	R33S	unknown	Het
L3mbtl3	T	A	10: 26,282,830 (GRCm38)	D615V	unknown	Het
Lrp2	T	A	2: 69,482,381 (GRCm38)	Y2521F	probably benign	Het
Megf10	A	T	18: 57,275,753 (GRCm38)	N589I	probably damaging	Het
Metap1d	G	C	2: 71,506,785 (GRCm38)	G14A	probably benign	Het
Mfap5	T	A	6: 122,528,422 (GRCm38)	D162E	probably benign	Het
Mixl1	T	C	1: 180,696,958 (GRCm38)	I19V	probably benign	Het
Mtrr	G	T	13: 68,568,860 (GRCm38)	Y411*	probably null	Het
Myh7	T	C	14: 54,990,025 (GRCm38)	T318A	probably benign	Het
Nbeal1	T	A	1: 60,310,224 (GRCm38)	Y2348*	probably null	Het
Nlrc3	T	C	16: 3,963,590 (GRCm38)	S668G	probably damaging	Het
Nutm1	G	A	2: 112,250,056 (GRCm38)	R505C	probably damaging	Het
Olfr1129	T	A	2: 87,575,708 (GRCm38)	V208E	probably damaging	Het
Olfr1222	C	A	2: 89,124,836 (GRCm38)	R298S	probably benign	Het
Olfr527	A	T	7: 140,336,741 (GRCm38)	D293V	possibly damaging	Het
Pcna	A	G	2: 132,252,877 (GRCm38)	S54P	probably benign	Het
Pde6a	A	G	18: 61,258,293 (GRCm38)	T570A	probably damaging	Het
Phf21b	A	T	15: 84,855,717 (GRCm38)	M1K	probably null	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195 (GRCm38)		probably benign	Het
Prob1	A	G	18: 35,653,299 (GRCm38)	F634S	possibly damaging	Het
Prss50	A	G	9: 110,861,289 (GRCm38)	T167A	probably damaging	Het
Ptpn1	T	C	2: 167,974,772 (GRCm38)	V249A	probably damaging	Het
Rai1	G	A	11: 60,188,673 (GRCm38)	V1188I	probably benign	Het
Ric1	G	A	19: 29,584,578 (GRCm38)		probably null	Het
Robo1	C	T	16: 72,989,631 (GRCm38)	Q844*	probably null	Het
Rpn1	A	G	6: 88,084,637 (GRCm38)	D36G	possibly damaging	Het
Serpinb1b	A	T	13: 33,093,827 (GRCm38)	M348L	probably benign	Het
Setd4	T	C	16: 93,583,942 (GRCm38)		probably null	Het
Setd5	T	G	6: 113,147,557 (GRCm38)	S1124A	probably benign	Het
Slc35c1	C	A	2: 92,458,739 (GRCm38)	V154F	probably damaging	Het
Slc7a6os	G	T	8: 106,210,489 (GRCm38)	S113*	probably null	Het
Syne2	T	A	12: 76,103,036 (GRCm38)	D1787E	probably benign	Het
Tas2r144	A	C	6: 42,215,439 (GRCm38)	I38L	probably damaging	Het
Tepsin	G	T	11: 120,091,708 (GRCm38)	T512K	possibly damaging	Het
Utp20	A	G	10: 88,770,724 (GRCm38)	V1662A	probably benign	Het
Vmn1r201	C	T	13: 22,475,339 (GRCm38)	A241V	possibly damaging	Het
Vmn2r60	T	A	7: 42,136,402 (GRCm38)	S210T	probably benign	Het
Wdr6	G	T	9: 108,574,585 (GRCm38)	H700N	probably damaging	Het
Zdhhc8	T	C	16: 18,234,926 (GRCm38)	T29A	probably benign	Het
Zfp335	A	G	2: 164,900,132 (GRCm38)	I614T	probably damaging	Het
Zfp54	T	A	17: 21,433,582 (GRCm38)	S113T	probably benign	Het
Zfp873	T	A	10: 82,061,237 (GRCm38)	C601S	probably damaging	Het
Zfyve26	T	C	12: 79,278,372 (GRCm38)		probably null	Het
Zmynd8	T	C	2: 165,840,009 (GRCm38)	T201A	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
R1929:Fgd6	UTSW	10	94,045,006 (GRCm38)	missense	probably benign	0.01
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
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'- AGCGATCACCTTGTGGTTC -3'
(R):5'- ATCTACATGCTTCTGGCGG -3'

Sequencing Primer
(F):5'- GATCACCTTGTGGTTCCCCGG -3'
(R):5'- ATGCTTCTGGCGGCGAAG -3'

Posted On

2019-09-13