Mutagenetix > Incidental Mutation

Incidental Mutation 'R8189:Fgd6'

635032

Institutional Source

Beutler Lab

Gene Symbol

Fgd6

Ensembl Gene

ENSMUSG00000020021

Gene Name

FYVE, RhoGEF and PH domain containing 6

Synonyms

Etohd4, ZFYVE24

MMRRC Submission

067612-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.413) question?

Stock #

R8189 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

93871863-93981201 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93910077 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 794 (L794P)

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: L794P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000020208
Gene: ENSMUSG00000020021
AA Change: L794P

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: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,324,885 (GRCm39)	I1531T	probably damaging	Het
Ankrd13d	G	A	19: 4,320,880 (GRCm39)	P516S	probably benign	Het
Bag6	A	G	17: 35,364,214 (GRCm39)		probably null	Het
Cchcr1	A	G	17: 35,837,563 (GRCm39)	I422V	probably benign	Het
Ceacam1	A	G	7: 25,173,343 (GRCm39)	S282P	probably damaging	Het
Chka	G	T	19: 3,925,759 (GRCm39)	E159*	probably null	Het
Ckmt2	T	C	13: 92,003,894 (GRCm39)	Y368C	probably damaging	Het
Cngb1	TTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGGCTCTGG	TTCTGGCTCTGGCTCTGGCTCTGG	8: 96,030,248 (GRCm39)		probably benign	Het
Ctsq	A	G	13: 61,184,969 (GRCm39)	L239P	probably damaging	Het
D630045J12Rik	A	G	6: 38,135,106 (GRCm39)	L1358P	probably damaging	Het
Dglucy	G	A	12: 100,804,889 (GRCm39)	E127K	probably benign	Het
Dnajb8	C	T	6: 88,199,940 (GRCm39)	R159C	possibly damaging	Het
Fgfr2	G	A	7: 129,774,629 (GRCm39)	T654I	probably damaging	Het
Gmeb2	G	A	2: 180,919,760 (GRCm39)	T38M	probably damaging	Het
Gria1	T	C	11: 57,108,625 (GRCm39)	F243L	probably benign	Het
Gria2	A	T	3: 80,629,489 (GRCm39)	D244E	probably damaging	Het
Ints2	T	A	11: 86,106,396 (GRCm39)	I1005F	probably damaging	Het
Ipo11	T	A	13: 107,061,604 (GRCm39)	S19C	probably damaging	Het
Kmt2b	A	G	7: 30,268,756 (GRCm39)	F2658L	probably damaging	Het
Lrrc38	G	A	4: 143,077,303 (GRCm39)	G189R	probably damaging	Het
Mcf2l	A	G	8: 13,013,164 (GRCm39)	D27G	probably damaging	Het
Mrgprb2	G	T	7: 48,202,502 (GRCm39)	Y74*	probably null	Het
Mtrex	T	A	13: 113,028,515 (GRCm39)	R628S	possibly damaging	Het
Nrcam	C	A	12: 44,617,291 (GRCm39)	P740T	possibly damaging	Het
Nrxn1	C	T	17: 91,011,637 (GRCm39)	V331I	probably damaging	Het
Or2a57	T	C	6: 43,213,013 (GRCm39)	V157A	probably benign	Het
Or4f17-ps1	T	C	2: 111,358,118 (GRCm39)	V153A		Het
Or5k1b	T	A	16: 58,581,288 (GRCm39)	N84Y	probably damaging	Het
Or5p52	A	G	7: 107,501,939 (GRCm39)	N5S	probably damaging	Het
Or6c66b	T	A	10: 129,377,122 (GRCm39)	C239S	probably damaging	Het
Pla2g4a	A	G	1: 149,733,337 (GRCm39)	F479L	probably benign	Het
Pramel20	T	G	4: 143,298,530 (GRCm39)	Y158D	probably benign	Het
Scaper	A	T	9: 55,819,404 (GRCm39)	F104I	probably damaging	Het
Serpinb3c	A	T	1: 107,204,039 (GRCm39)	C58S	probably benign	Het
Setdb1	A	G	3: 95,254,022 (GRCm39)	V260A	probably damaging	Het
Shank3	A	G	15: 89,433,439 (GRCm39)	T1395A	probably benign	Het
Slc35b4	A	G	6: 34,144,570 (GRCm39)	I95T	probably damaging	Het
Trpm5	A	G	7: 142,635,575 (GRCm39)	V599A	probably benign	Het
Ttk	A	G	9: 83,729,272 (GRCm39)	S352G	probably benign	Het
Ugt2b35	T	A	5: 87,149,302 (GRCm39)	S184R	probably damaging	Het
Usp17le	C	T	7: 104,418,555 (GRCm39)	D196N	probably damaging	Het
Vmn2r15	A	G	5: 109,434,713 (GRCm39)	F664L	probably benign	Het
Vmn2r94	A	T	17: 18,478,618 (GRCm39)	L43Q	probably damaging	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
R5606:Fgd6	UTSW	10	93,974,190 (GRCm39)	nonsense	probably null
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
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'- TTGAGTTTATAACAGCTGAGGCAG -3'
(R):5'- TCAGGGAGACAAGCAGCATTC -3'

Sequencing Primer
(F):5'- AGGAGAGGTAGTGTTAGGCTTACC -3'
(R):5'- GGAGACAAGCAGCATTCCCATG -3'

Posted On

2020-07-13