Mutagenetix > Incidental Mutation

Incidental Mutation 'R5606:Fgd6'

439302

Institutional Source

Beutler Lab

Gene Symbol

Fgd6

Ensembl Gene

ENSMUSG00000020021

Gene Name

FYVE, RhoGEF and PH domain containing 6

Synonyms

Etohd4, ZFYVE24

MMRRC Submission

043157-MU

Accession Numbers

Essential gene?

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

Stock #

R5606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

94036001-94145339 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 94138328 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 1310 (Y1310*)

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: Y1310*

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: Y1310*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125535

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1a7	A	G	19: 20,722,367 (GRCm38)	S75P	probably damaging	Het
Ankib1	A	T	5: 3,701,907 (GRCm38)	I711N	probably damaging	Het
Ankmy2	A	G	12: 36,165,921 (GRCm38)	N40S	probably benign	Het
Armc8	T	C	9: 99,536,262 (GRCm38)	K80E	probably benign	Het
BC005561	T	C	5: 104,521,878 (GRCm38)	I1422T	probably benign	Het
Blm	C	A	7: 80,460,832 (GRCm38)		probably null	Het
Cand1	C	A	10: 119,211,454 (GRCm38)	Q710H	possibly damaging	Het
Ckap2l	A	T	2: 129,286,039 (GRCm38)	I73N	probably damaging	Het
Ddx27	T	A	2: 167,019,966 (GRCm38)	D129E	probably benign	Het
Dnm3	T	C	1: 162,286,018 (GRCm38)	E491G	probably damaging	Het
Gm7534	A	C	4: 134,200,212 (GRCm38)	V410G	probably benign	Het
Hnrnph3	C	T	10: 63,019,443 (GRCm38)	R21H	possibly damaging	Het
Hs3st4	C	A	7: 124,397,142 (GRCm38)	Q344K	probably damaging	Het
Hyal3	T	C	9: 107,585,066 (GRCm38)	S100P	probably benign	Het
Map3k19	G	A	1: 127,822,957 (GRCm38)	R886C	probably benign	Het
Mmrn2	G	A	14: 34,397,624 (GRCm38)	D187N	probably damaging	Het
Myo5c	G	A	9: 75,275,508 (GRCm38)	A810T	probably damaging	Het
Noxa1	T	A	2: 25,086,280 (GRCm38)	E332V	possibly damaging	Het
Olfr129	T	C	17: 38,054,802 (GRCm38)	T264A	probably damaging	Het
Olfr1356	A	G	10: 78,847,561 (GRCm38)	M118T	probably benign	Het
Olfr536	T	A	7: 140,503,800 (GRCm38)	I220F	probably damaging	Het
Olfr550	T	C	7: 102,579,274 (GRCm38)	S260P	probably damaging	Het
Parg	T	A	14: 32,262,736 (GRCm38)	V241E	probably damaging	Het
Pitrm1	T	A	13: 6,560,065 (GRCm38)	V391D	probably damaging	Het
Plch1	A	T	3: 63,740,687 (GRCm38)	V421E	probably benign	Het
Slc27a2	C	T	2: 126,564,690 (GRCm38)	A98V	probably damaging	Het
Spta1	A	T	1: 174,219,902 (GRCm38)	H1704L	probably damaging	Het
Tbpl2	G	A	2: 24,087,233 (GRCm38)	P258S	possibly damaging	Het
Tlr11	T	C	14: 50,362,260 (GRCm38)	C568R	probably benign	Het
Tmem260	T	A	14: 48,484,980 (GRCm38)	M324K	probably damaging	Het
Tmprss11g	T	A	5: 86,487,410 (GRCm38)	T402S	probably damaging	Het
Trim21	C	G	7: 102,559,606 (GRCm38)	R302P	probably damaging	Het
Uox	T	A	3: 146,610,302 (GRCm38)	Y21*	probably null	Het
Vmn1r74	A	G	7: 11,846,895 (GRCm38)	M41V	probably benign	Het
Vmn2r59	A	C	7: 42,045,894 (GRCm38)	S365A	probably benign	Het
Zfp345	A	T	2: 150,474,868 (GRCm38)	Y6*	probably null	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
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'- AACCCAGTGTAGCTCTGACG -3'
(R):5'- TGCATCCTCGGTTCTACGTATG -3'

Sequencing Primer
(F):5'- CCAGTGTAGCTCTGACGGGTTG -3'
(R):5'- TTAAGAGTCCACCTTATACCGGG -3'

Posted On

2016-10-26