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: 0.387) question?

Stock #

R5606 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

93871863-93981201 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 93974190 bp (GRCm39)

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: 20,699,731 (GRCm39)	S75P	probably damaging	Het
Ankib1	A	T	5: 3,751,907 (GRCm39)	I711N	probably damaging	Het
Ankmy2	A	G	12: 36,215,920 (GRCm39)	N40S	probably benign	Het
Armc8	T	C	9: 99,418,315 (GRCm39)	K80E	probably benign	Het
Blm	C	A	7: 80,110,580 (GRCm39)		probably null	Het
Cand1	C	A	10: 119,047,359 (GRCm39)	Q710H	possibly damaging	Het
Ckap2l	A	T	2: 129,127,959 (GRCm39)	I73N	probably damaging	Het
Ddx27	T	A	2: 166,861,886 (GRCm39)	D129E	probably benign	Het
Dnm3	T	C	1: 162,113,587 (GRCm39)	E491G	probably damaging	Het
Hnrnph3	C	T	10: 62,855,222 (GRCm39)	R21H	possibly damaging	Het
Hs3st4	C	A	7: 123,996,365 (GRCm39)	Q344K	probably damaging	Het
Hyal3	T	C	9: 107,462,265 (GRCm39)	S100P	probably benign	Het
Map3k19	G	A	1: 127,750,694 (GRCm39)	R886C	probably benign	Het
Mmrn2	G	A	14: 34,119,581 (GRCm39)	D187N	probably damaging	Het
Myo5c	G	A	9: 75,182,790 (GRCm39)	A810T	probably damaging	Het
Noxa1	T	A	2: 24,976,292 (GRCm39)	E332V	possibly damaging	Het
Or10al7	T	C	17: 38,365,693 (GRCm39)	T264A	probably damaging	Het
Or12j5	T	A	7: 140,083,713 (GRCm39)	I220F	probably damaging	Het
Or51r1	T	C	7: 102,228,481 (GRCm39)	S260P	probably damaging	Het
Or7c70	A	G	10: 78,683,395 (GRCm39)	M118T	probably benign	Het
Parg	T	A	14: 31,984,693 (GRCm39)	V241E	probably damaging	Het
Pitrm1	T	A	13: 6,610,101 (GRCm39)	V391D	probably damaging	Het
Plch1	A	T	3: 63,648,108 (GRCm39)	V421E	probably benign	Het
Slc27a2	C	T	2: 126,406,610 (GRCm39)	A98V	probably damaging	Het
Spta1	A	T	1: 174,047,468 (GRCm39)	H1704L	probably damaging	Het
Tbpl2	G	A	2: 23,977,245 (GRCm39)	P258S	possibly damaging	Het
Thoc2l	T	C	5: 104,669,744 (GRCm39)	I1422T	probably benign	Het
Tlr11	T	C	14: 50,599,717 (GRCm39)	C568R	probably benign	Het
Tmem260	T	A	14: 48,722,437 (GRCm39)	M324K	probably damaging	Het
Tmprss11g	T	A	5: 86,635,269 (GRCm39)	T402S	probably damaging	Het
Trim21	C	G	7: 102,208,813 (GRCm39)	R302P	probably damaging	Het
Uox	T	A	3: 146,316,057 (GRCm39)	Y21*	probably null	Het
Vmn1r74	A	G	7: 11,580,822 (GRCm39)	M41V	probably benign	Het
Vmn2r59	A	C	7: 41,695,318 (GRCm39)	S365A	probably benign	Het
Zfp345	A	T	2: 150,316,788 (GRCm39)	Y6*	probably null	Het
Zpld2	A	C	4: 133,927,523 (GRCm39)	V410G	probably benign	Het

Other mutations in Fgd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00764:Fgd6	APN	10	93,879,496 (GRCm39)	missense	probably benign	0.01
IGL00975:Fgd6	APN	10	93,969,938 (GRCm39)	missense	probably damaging	0.98
IGL01366:Fgd6	APN	10	93,879,338 (GRCm39)	missense	possibly damaging	0.71
IGL01940:Fgd6	APN	10	93,925,512 (GRCm39)	splice site	probably null
IGL01958:Fgd6	APN	10	93,974,170 (GRCm39)	missense	probably benign	0.25
IGL01988:Fgd6	APN	10	93,910,197 (GRCm39)	splice site	probably benign
IGL02019:Fgd6	APN	10	93,969,216 (GRCm39)	missense	probably damaging	1.00
IGL02074:Fgd6	APN	10	93,963,297 (GRCm39)	missense	probably damaging	1.00
IGL02227:Fgd6	APN	10	93,969,946 (GRCm39)	missense	probably damaging	1.00
IGL02262:Fgd6	APN	10	93,961,490 (GRCm39)	missense	probably damaging	0.98
IGL02353:Fgd6	APN	10	93,974,258 (GRCm39)	missense	possibly damaging	0.82
IGL02360:Fgd6	APN	10	93,974,258 (GRCm39)	missense	possibly damaging	0.82
IGL02425:Fgd6	APN	10	93,910,064 (GRCm39)	missense	probably benign	0.00
IGL02526:Fgd6	APN	10	93,936,373 (GRCm39)	missense	probably benign	0.21
IGL02607:Fgd6	APN	10	93,880,310 (GRCm39)	missense	possibly damaging	0.94
IGL02741:Fgd6	APN	10	93,959,152 (GRCm39)	missense	possibly damaging	0.65
IGL02870:Fgd6	APN	10	93,881,026 (GRCm39)	missense	probably damaging	1.00
IGL02884:Fgd6	APN	10	93,881,501 (GRCm39)	splice site	probably benign
IGL02995:Fgd6	APN	10	93,881,342 (GRCm39)	nonsense	probably null
IGL03189:Fgd6	APN	10	93,880,318 (GRCm39)	missense	probably benign	0.26
IGL03258:Fgd6	APN	10	93,969,215 (GRCm39)	missense	probably benign	0.44
IGL03396:Fgd6	APN	10	93,880,318 (GRCm39)	missense	probably benign	0.26
FR4449:Fgd6	UTSW	10	93,880,182 (GRCm39)	small deletion	probably benign
R0257:Fgd6	UTSW	10	93,879,777 (GRCm39)	missense	probably benign	0.11
R0926:Fgd6	UTSW	10	93,970,909 (GRCm39)	missense	probably benign	0.40
R1325:Fgd6	UTSW	10	93,963,289 (GRCm39)	missense	probably damaging	1.00
R1422:Fgd6	UTSW	10	93,881,234 (GRCm39)	missense	probably damaging	1.00
R1491:Fgd6	UTSW	10	93,880,694 (GRCm39)	missense	probably benign	0.06
R1593:Fgd6	UTSW	10	93,880,894 (GRCm39)	missense	probably damaging	1.00
R1624:Fgd6	UTSW	10	93,973,298 (GRCm39)	missense	probably benign	0.19
R1929:Fgd6	UTSW	10	93,880,868 (GRCm39)	missense	probably benign	0.01
R2064:Fgd6	UTSW	10	93,880,903 (GRCm39)	missense	probably damaging	0.98
R2965:Fgd6	UTSW	10	93,880,056 (GRCm39)	missense	probably benign	0.03
R2966:Fgd6	UTSW	10	93,880,056 (GRCm39)	missense	probably benign	0.03
R3889:Fgd6	UTSW	10	93,925,499 (GRCm39)	missense	probably damaging	1.00
R4094:Fgd6	UTSW	10	93,879,296 (GRCm39)	missense	probably damaging	1.00
R4605:Fgd6	UTSW	10	93,880,217 (GRCm39)	missense	probably benign	0.12
R4883:Fgd6	UTSW	10	93,975,715 (GRCm39)	missense	probably benign	0.00
R5217:Fgd6	UTSW	10	93,969,939 (GRCm39)	missense	possibly damaging	0.90
R5473:Fgd6	UTSW	10	93,880,538 (GRCm39)	missense	probably benign	0.00
R5644:Fgd6	UTSW	10	93,969,912 (GRCm39)	missense	possibly damaging	0.80
R6051:Fgd6	UTSW	10	93,973,427 (GRCm39)	critical splice donor site	probably null
R6258:Fgd6	UTSW	10	93,880,161 (GRCm39)	missense	probably benign	0.00
R6735:Fgd6	UTSW	10	93,910,182 (GRCm39)	missense	possibly damaging	0.94
R7181:Fgd6	UTSW	10	93,879,373 (GRCm39)	missense	probably benign	0.02
R7210:Fgd6	UTSW	10	93,969,954 (GRCm39)	missense	probably damaging	0.98
R7296:Fgd6	UTSW	10	93,975,743 (GRCm39)	missense	probably benign	0.02
R7296:Fgd6	UTSW	10	93,879,909 (GRCm39)	nonsense	probably null
R7697:Fgd6	UTSW	10	93,881,306 (GRCm39)	missense	probably damaging	0.99
R7747:Fgd6	UTSW	10	93,880,778 (GRCm39)	missense	probably damaging	1.00
R7861:Fgd6	UTSW	10	93,939,193 (GRCm39)	missense	probably benign	0.15
R7940:Fgd6	UTSW	10	93,956,344 (GRCm39)	missense	probably benign	0.02
R8022:Fgd6	UTSW	10	93,880,206 (GRCm39)	missense	possibly damaging	0.54
R8138:Fgd6	UTSW	10	93,970,005 (GRCm39)	missense	probably null	0.45
R8171:Fgd6	UTSW	10	93,910,194 (GRCm39)	critical splice donor site	probably null
R8189:Fgd6	UTSW	10	93,910,077 (GRCm39)	missense	probably benign	0.00
R8213:Fgd6	UTSW	10	93,879,914 (GRCm39)	missense	probably benign	0.37
R8960:Fgd6	UTSW	10	93,880,868 (GRCm39)	missense	probably benign	0.06
R8981:Fgd6	UTSW	10	93,880,916 (GRCm39)	missense	possibly damaging	0.80
R8989:Fgd6	UTSW	10	93,959,425 (GRCm39)	missense	probably damaging	0.97
R9609:Fgd6	UTSW	10	93,879,674 (GRCm39)	missense	probably damaging	0.99
RF031:Fgd6	UTSW	10	93,880,187 (GRCm39)	frame shift	probably null
RF040:Fgd6	UTSW	10	93,880,187 (GRCm39)	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