Mutagenetix > Incidental Mutation

Incidental Mutation 'R1482:Fgd4'

164480

Institutional Source

Beutler Lab

Gene Symbol

Fgd4

Ensembl Gene

ENSMUSG00000022788

Gene Name

FYVE, RhoGEF and PH domain containing 4

Synonyms

Frabin-alpha, 9330209B17Rik, ZFYVE6, Frabin-gamma, Frabin-beta, Frabin

MMRRC Submission

039535-MU

Accession Numbers

Genbank: NM_139232; MGI: 2183747

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1482 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16416917-16600549 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 16484473 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 73 (Q73K)

Ref Sequence

ENSEMBL: ENSMUSP00000125649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000069284] [ENSMUST00000159542] [ENSMUST00000161188] [ENSMUST00000161861] [ENSMUST00000162671]

AlphaFold

Q91ZT5

Predicted Effect

probably benign
Transcript: ENSMUST00000069284
AA Change: Q73K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000069573
Gene: ENSMUSG00000022788
AA Change: Q73K

Domain	Start	End	E-Value	Type
RhoGEF	210	392	1.48e-57	SMART
PH	423	523	1.91e-19	SMART
FYVE	551	620	2.2e-30	SMART
PH	644	742	1.31e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159058

Predicted Effect

probably benign
Transcript: ENSMUST00000159542
AA Change: Q73K

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000125649
Gene: ENSMUSG00000022788
AA Change: Q73K

Domain	Start	End	E-Value	Type
RhoGEF	210	392	1.48e-57	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161188
AA Change: Q73K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123763
Gene: ENSMUSG00000022788
AA Change: Q73K

Domain	Start	End	E-Value	Type
RhoGEF	210	392	1.48e-57	SMART
PH	423	523	1.91e-19	SMART
FYVE	551	603	1.94e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161624

Predicted Effect

probably benign
Transcript: ENSMUST00000161861
AA Change: Q73K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125174
Gene: ENSMUSG00000022788
AA Change: Q73K

Domain	Start	End	E-Value	Type
RhoGEF	210	392	1.48e-57	SMART
PH	423	523	1.91e-19	SMART
FYVE	551	620	2.2e-30	SMART
PH	644	742	1.31e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162045

SMART Domains

Protein: ENSMUSP00000125435
Gene: ENSMUSG00000022788

Domain	Start	End	E-Value	Type
RhoGEF	210	392	1.48e-57	SMART
PH	423	504	2.36e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162124

SMART Domains

Protein: ENSMUSP00000125165
Gene: ENSMUSG00000022788

Domain	Start	End	E-Value	Type
RhoGEF	166	348	1.48e-57	SMART
PH	379	460	2.36e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162414

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162542

Predicted Effect

probably benign
Transcript: ENSMUST00000162671
AA Change: Q73K

PolyPhen 2 Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125736
Gene: ENSMUSG00000022788
AA Change: Q73K

Domain	Start	End	E-Value	Type
RhoGEF	210	392	1.48e-57	SMART
PH	423	523	1.91e-19	SMART
FYVE	551	620	2.2e-30	SMART
PH	644	742	1.31e-8	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000172181

SMART Domains

Protein: ENSMUSP00000131870
Gene: ENSMUSG00000022788

Domain	Start	End	E-Value	Type
RhoGEF	210	392	1.48e-57	SMART
PH	423	523	1.91e-19	SMART
FYVE	551	603	1.94e-8	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 93.8%
20x: 83.6%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene is a member of the FYVE, RhoGEF and PH domain containing (FGD) family. The encoded protein is a Cdc42-specific guanine nucleotide exchange factor (GEF) that plays an essential role in regulating the actin cytoskeleton and cell morphology. Disruption of the gene in mouse causes abnormal nerve development and dysmyelination. Mutations in a similar gene in human can cause Charcot-Marie-Tooth disease type 4H (CMT4H), a disorder of the peripheral nervous system. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]
PHENOTYPE: Mice homozygous for a knock-out allele display dysmyelination in early peripheral nerve development, followed by severe myelin abnormalities, demyelinationn, nervous system electrophysiological deficits, and decreased grip strength at later stages. [provided by MGI curators]

Allele List at MGI

All alleles(60) : Gene trapped(60)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	G	A	19: 3,717,192	D260N	probably benign	Het
AI314180	T	C	4: 58,820,163	K1217E	possibly damaging	Het
Ankef1	A	T	2: 136,550,158	K422N	possibly damaging	Het
Anxa2	TCCC	TCC	9: 69,489,754		probably null	Het
Aqp6	A	T	15: 99,604,307	*294C	probably null	Het
Baz2a	T	A	10: 128,109,008	M38K	possibly damaging	Het
Bcl2l14	A	G	6: 134,427,302	D151G	probably damaging	Het
Cabp5	T	A	7: 13,398,342	L12*	probably null	Het
Cachd1	T	C	4: 100,988,598	V993A	possibly damaging	Het
Cd44	G	A	2: 102,831,383	T306I	probably damaging	Het
Cdc20	A	T	4: 118,437,056	N22K	probably benign	Het
Cdc6	T	A	11: 98,916,981	D433E	possibly damaging	Het
Clhc1	A	G	11: 29,553,725	D47G	probably damaging	Het
Csf2	T	C	11: 54,248,563	K65E	probably benign	Het
Cul9	T	C	17: 46,508,547	E2005G	probably damaging	Het
Dclk3	G	T	9: 111,467,820	R144L	possibly damaging	Het
Dcpp2	C	T	17: 23,900,542	T110I	probably damaging	Het
Disp1	A	T	1: 183,086,474	F1461I	possibly damaging	Het
Dnah1	C	T	14: 31,294,874	G1562D	probably damaging	Het
Exoc3l2	C	A	7: 19,495,359	P234Q	probably damaging	Het
F2rl2	T	C	13: 95,701,539	V364A	probably benign	Het
Fam151a	T	C	4: 106,745,679	L265P	probably damaging	Het
Fam151b	T	A	13: 92,450,166	Q253L	probably benign	Het
Fat1	G	A	8: 44,953,244	V1011M	probably benign	Het
Fbxo6	G	A	4: 148,145,984	R274*	probably null	Het
Fth1	A	G	19: 9,984,853	T154A	probably benign	Het
Hgs	C	A	11: 120,480,040	H572Q	probably benign	Het
Kcnk10	G	A	12: 98,489,948	T208I	probably damaging	Het
Kdm5b	G	A	1: 134,624,897	V1204M	probably damaging	Het
Keg1	A	C	19: 12,718,821	H166P	probably damaging	Het
Kifap3	A	T	1: 163,825,859	N338I	possibly damaging	Het
Llcfc1	A	T	6: 41,685,284	D74V	probably damaging	Het
Lman2	A	G	13: 55,351,405	V219A	possibly damaging	Het
Mettl25	A	G	10: 105,826,590	I173T	possibly damaging	Het
Mov10	G	T	3: 104,804,546	P170Q	probably damaging	Het
Mtif2	G	T	11: 29,536,847	A286S	probably damaging	Het
Mtmr10	A	G	7: 64,314,249	Y244C	probably damaging	Het
Nbea	A	T	3: 56,079,993	C359S	probably damaging	Het
Nbr1	C	T	11: 101,572,841	T633I	probably benign	Het
Nepn	A	T	10: 52,400,416	T22S	probably damaging	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Oacyl	T	A	18: 65,737,972	L342M	probably damaging	Het
Olfr691	T	A	7: 105,337,256	R153S	probably damaging	Het
Olfr699	A	G	7: 106,790,333	F223L	probably benign	Het
Olfr775	T	A	10: 129,251,143	I203N	possibly damaging	Het
Olfr872	G	A	9: 20,260,724	V295I	possibly damaging	Het
Oxnad1	T	C	14: 32,099,633		probably null	Het
Pard3b	A	T	1: 62,166,367	D440V	probably damaging	Het
Pou3f2	T	G	4: 22,486,960	D391A	possibly damaging	Het
Ptprk	T	C	10: 28,263,516	V79A	probably benign	Het
Rwdd2a	A	G	9: 86,574,278	D169G	probably damaging	Het
Scn3b	A	C	9: 40,279,496	D74A	probably damaging	Het
Setbp1	C	T	18: 79,086,835	D61N	probably damaging	Het
Setx	T	A	2: 29,162,992	D2089E	probably damaging	Het
Vmn2r69	C	G	7: 85,406,874	W685C	probably damaging	Het
Vps8	A	G	16: 21,581,598	Q1272R	probably benign	Het
Wnk4	T	C	11: 101,269,636	F699L	probably damaging	Het
Zfp616	T	A	11: 74,083,977	N448K	possibly damaging	Het
Zfp618	C	A	4: 63,115,448	D307E	possibly damaging	Het
Zfp687	A	G	3: 95,007,533	F1219S	probably damaging	Het
Zfpm2	T	A	15: 41,099,291	D248E	probably damaging	Het

Other mutations in Fgd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01289:Fgd4	APN	16	16484303	missense	probably damaging	0.99
IGL01455:Fgd4	APN	16	16490490	missense	probably benign	0.22
IGL02035:Fgd4	APN	16	16490416	splice site	probably benign
IGL02353:Fgd4	APN	16	16462045	missense	probably damaging	0.96
IGL02360:Fgd4	APN	16	16462045	missense	probably damaging	0.96
IGL03100:Fgd4	APN	16	16477519	splice site	probably benign
11287:Fgd4	UTSW	16	16423923	missense	probably damaging	1.00
R0787:Fgd4	UTSW	16	16423901	splice site	probably benign
R0853:Fgd4	UTSW	16	16474387	splice site	probably benign
R0879:Fgd4	UTSW	16	16477449	missense	probably damaging	1.00
R1619:Fgd4	UTSW	16	16424056	missense	possibly damaging	0.52
R1635:Fgd4	UTSW	16	16475029	nonsense	probably null
R2018:Fgd4	UTSW	16	16435960	missense	probably benign	0.15
R2120:Fgd4	UTSW	16	16425828	missense	probably benign	0.44
R2292:Fgd4	UTSW	16	16436000	missense	possibly damaging	0.95
R2902:Fgd4	UTSW	16	16425865	missense	probably damaging	1.00
R4575:Fgd4	UTSW	16	16437032	missense	probably damaging	1.00
R4747:Fgd4	UTSW	16	16423929	missense	probably damaging	1.00
R4941:Fgd4	UTSW	16	16484538	missense	probably benign
R5196:Fgd4	UTSW	16	16484142	missense	probably benign	0.01
R5372:Fgd4	UTSW	16	16484291	missense	probably benign	0.03
R5457:Fgd4	UTSW	16	16462009	missense	probably benign	0.39
R5486:Fgd4	UTSW	16	16475037	missense	probably damaging	1.00
R6709:Fgd4	UTSW	16	16484481	missense	probably benign	0.09
R6962:Fgd4	UTSW	16	16484087	splice site	probably null
R7207:Fgd4	UTSW	16	16484556	missense	probably benign	0.11
R7732:Fgd4	UTSW	16	16484595	missense	probably benign
R7749:Fgd4	UTSW	16	16475154	missense	probably benign	0.02
R7846:Fgd4	UTSW	16	16422726	missense	probably damaging	1.00
R7937:Fgd4	UTSW	16	16469773	missense	probably damaging	1.00
R8517:Fgd4	UTSW	16	16422645	missense	probably benign	0.04
R8755:Fgd4	UTSW	16	16484269	missense	probably benign	0.00
R9015:Fgd4	UTSW	16	16454077	missense	probably damaging	1.00
R9055:Fgd4	UTSW	16	16422630	missense	possibly damaging	0.54
R9259:Fgd4	UTSW	16	16477461	missense	probably damaging	1.00
R9364:Fgd4	UTSW	16	16490489	missense	probably benign	0.08
R9554:Fgd4	UTSW	16	16490489	missense	probably benign	0.08
R9653:Fgd4	UTSW	16	16436597	missense	probably benign
R9682:Fgd4	UTSW	16	16484338	missense	probably benign
Z1088:Fgd4	UTSW	16	16484470	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TGCTGGTCCAACGTATCCAATCCC -3'
(R):5'- GCTTGTGTGCCAAGAATCTGCTTC -3'

Sequencing Primer
(F):5'- TTTGAGGGAAGCCCTAAGTCC -3'
(R):5'- GTGCCAAGAATCTGCTTCTAAAAC -3'

Posted On

2014-03-28