Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03369:Fgd5'

420231

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fgd5

Ensembl Gene

ENSMUSG00000034037

Gene Name

FYVE, RhoGEF and PH domain containing 5

Synonyms

C330025N11Rik, ZFYVE23

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.196) question?

Stock #

IGL03369

Quality Score

Status

Chromosome

Chromosomal Location

91955859-92052985 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91965396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 385 (V385D)

Ref Sequence

ENSEMBL: ENSMUSP00000109093 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089334] [ENSMUST00000113466]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000089334
AA Change: V543D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000086748
Gene: ENSMUSG00000034037
AA Change: V543D

Domain	Start	End	E-Value	Type
low complexity region	7	16	N/A	INTRINSIC
internal_repeat_1	126	169	2.6e-7	PROSPERO
internal_repeat_1	164	198	2.6e-7	PROSPERO
low complexity region	201	222	N/A	INTRINSIC
low complexity region	254	269	N/A	INTRINSIC
low complexity region	321	332	N/A	INTRINSIC
low complexity region	426	442	N/A	INTRINSIC
low complexity region	453	475	N/A	INTRINSIC
low complexity region	652	663	N/A	INTRINSIC
low complexity region	695	705	N/A	INTRINSIC
low complexity region	727	736	N/A	INTRINSIC
low complexity region	879	894	N/A	INTRINSIC
low complexity region	914	928	N/A	INTRINSIC
Pfam:RhoGEF	946	1134	2.2e-28	PFAM
PH	1165	1260	4.93e-13	SMART
FYVE	1285	1353	2.51e-16	SMART
low complexity region	1368	1390	N/A	INTRINSIC
PH	1416	1514	2.77e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000113466
AA Change: V385D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000109093
Gene: ENSMUSG00000034037
AA Change: V385D

Domain	Start	End	E-Value	Type
low complexity region	43	64	N/A	INTRINSIC
low complexity region	96	111	N/A	INTRINSIC
low complexity region	163	174	N/A	INTRINSIC
low complexity region	268	284	N/A	INTRINSIC
low complexity region	295	317	N/A	INTRINSIC
low complexity region	494	505	N/A	INTRINSIC
low complexity region	537	547	N/A	INTRINSIC
low complexity region	569	578	N/A	INTRINSIC
low complexity region	721	736	N/A	INTRINSIC
low complexity region	756	770	N/A	INTRINSIC
Pfam:RhoGEF	788	976	1.6e-27	PFAM
PH	1007	1102	4.93e-13	SMART
FYVE	1127	1195	2.51e-16	SMART
low complexity region	1210	1232	N/A	INTRINSIC
PH	1258	1356	2.77e-7	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous disruption of this gene leads to complete embryonic lethality during organogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013D24Rik	T	C	6: 124,333,380 (GRCm39)	N72S	possibly damaging	Het
A2m	G	A	6: 121,653,862 (GRCm39)		probably null	Het
Angptl3	A	T	4: 98,923,057 (GRCm39)		probably benign	Het
Aox4	A	G	1: 58,301,746 (GRCm39)	D1106G	probably benign	Het
Capn13	G	A	17: 73,648,149 (GRCm39)		probably benign	Het
Cep250	A	G	2: 155,832,191 (GRCm39)	H1371R	probably benign	Het
Chrna1	A	T	2: 73,400,789 (GRCm39)	F247Y	probably benign	Het
Col2a1	T	C	15: 97,879,923 (GRCm39)	T813A	unknown	Het
Dab2	T	C	15: 6,464,790 (GRCm39)	V414A	possibly damaging	Het
Dach2	T	C	X: 112,465,937 (GRCm39)		probably benign	Het
Fap	A	G	2: 62,333,699 (GRCm39)		probably benign	Het
Fmnl1	A	G	11: 103,088,008 (GRCm39)		probably null	Het
Gorasp2	G	A	2: 70,513,336 (GRCm39)	G201D	probably damaging	Het
Gp2	T	A	7: 119,050,783 (GRCm39)	Q316L	probably damaging	Het
Gpx8	T	C	13: 113,179,696 (GRCm39)	I202V	probably damaging	Het
Gsta3	A	G	1: 21,335,173 (GRCm39)	K218R	probably benign	Het
Lama3	C	T	18: 12,686,340 (GRCm39)	T1195I	probably benign	Het
Map3k12	T	C	15: 102,410,514 (GRCm39)	R488G	possibly damaging	Het
Mapt	A	T	11: 104,173,259 (GRCm39)	Y18F	probably damaging	Het
Med21	T	C	6: 146,544,143 (GRCm39)	V12A	probably benign	Het
Mgat4b	A	G	11: 50,124,936 (GRCm39)	E457G	possibly damaging	Het
Mybl1	T	A	1: 9,742,780 (GRCm39)	K609N	probably damaging	Het
Ncaph2	T	G	15: 89,247,858 (GRCm39)	V75G	probably benign	Het
Neb	A	G	2: 52,068,049 (GRCm39)	Y5795H	probably benign	Het
Nup153	A	G	13: 46,854,459 (GRCm39)		probably null	Het
Or6c215	T	C	10: 129,638,340 (GRCm39)	D18G	probably damaging	Het
Or6y1	T	A	1: 174,276,435 (GRCm39)	I82N	probably damaging	Het
Plekhf2	G	T	4: 10,990,703 (GRCm39)	T213K	probably benign	Het
Plekho2	C	A	9: 65,466,776 (GRCm39)	G105W	probably damaging	Het
Polr3b	G	A	10: 84,512,816 (GRCm39)	G566D	probably damaging	Het
Rasgrf1	T	C	9: 89,892,504 (GRCm39)	I1068T	probably damaging	Het
Rnf213	A	T	11: 119,312,294 (GRCm39)	E907V	probably benign	Het
Runx1t1	C	T	4: 13,881,107 (GRCm39)	S469F	probably damaging	Het
Spata31e4	G	T	13: 50,857,200 (GRCm39)	C946F	possibly damaging	Het
Top1	A	T	2: 160,535,647 (GRCm39)	D182V	unknown	Het
Uckl1	T	C	2: 181,211,982 (GRCm39)	T375A	probably benign	Het
Usp53	A	T	3: 122,727,370 (GRCm39)		probably benign	Het
Vmn2r61	T	A	7: 41,909,517 (GRCm39)	I14N	probably benign	Het
Wbp4	A	T	14: 79,707,558 (GRCm39)	N184K	probably damaging	Het

Other mutations in Fgd5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00823:Fgd5	APN	6	91,965,440 (GRCm39)	missense	possibly damaging	0.63
IGL01354:Fgd5	APN	6	92,038,824 (GRCm39)	nonsense	probably null
IGL01597:Fgd5	APN	6	91,964,910 (GRCm39)	missense	probably damaging	1.00
IGL01648:Fgd5	APN	6	91,966,340 (GRCm39)	nonsense	probably null
IGL01781:Fgd5	APN	6	91,965,698 (GRCm39)	missense	possibly damaging	0.88
IGL01977:Fgd5	APN	6	92,001,543 (GRCm39)	missense	probably benign	0.20
IGL02053:Fgd5	APN	6	92,030,225 (GRCm39)	missense	probably benign	0.03
IGL02206:Fgd5	APN	6	91,964,239 (GRCm39)	utr 5 prime	probably benign
IGL02825:Fgd5	APN	6	92,015,068 (GRCm39)	splice site	probably null
IGL02838:Fgd5	APN	6	91,964,655 (GRCm39)	missense	probably benign
IGL03126:Fgd5	APN	6	92,042,145 (GRCm39)	missense	probably damaging	1.00
hygeia	UTSW	6	91,966,281 (GRCm39)	missense	probably damaging	1.00
Imploded	UTSW	6	92,026,912 (GRCm39)	splice site	probably null
R0029:Fgd5	UTSW	6	92,044,539 (GRCm39)	missense	probably benign	0.04
R0109:Fgd5	UTSW	6	91,965,216 (GRCm39)	missense	possibly damaging	0.74
R0109:Fgd5	UTSW	6	91,965,216 (GRCm39)	missense	possibly damaging	0.74
R0212:Fgd5	UTSW	6	91,965,189 (GRCm39)	missense	probably damaging	1.00
R1148:Fgd5	UTSW	6	91,964,612 (GRCm39)	missense	probably benign
R1148:Fgd5	UTSW	6	91,964,612 (GRCm39)	missense	probably benign
R1159:Fgd5	UTSW	6	91,965,483 (GRCm39)	missense	probably benign	0.00
R1199:Fgd5	UTSW	6	91,963,959 (GRCm39)	missense	possibly damaging	0.87
R1493:Fgd5	UTSW	6	91,964,612 (GRCm39)	missense	probably benign
R1602:Fgd5	UTSW	6	92,043,165 (GRCm39)	missense	possibly damaging	0.95
R1953:Fgd5	UTSW	6	92,001,611 (GRCm39)	missense	probably benign	0.31
R2280:Fgd5	UTSW	6	91,965,926 (GRCm39)	missense	possibly damaging	0.86
R2437:Fgd5	UTSW	6	92,039,850 (GRCm39)	nonsense	probably null
R2883:Fgd5	UTSW	6	91,964,090 (GRCm39)	splice site	probably null
R4133:Fgd5	UTSW	6	92,046,418 (GRCm39)	missense	probably damaging	1.00
R4454:Fgd5	UTSW	6	91,966,167 (GRCm39)	missense	probably damaging	1.00
R4491:Fgd5	UTSW	6	91,966,280 (GRCm39)	missense	possibly damaging	0.90
R4606:Fgd5	UTSW	6	91,965,190 (GRCm39)	missense	possibly damaging	0.67
R4981:Fgd5	UTSW	6	91,966,281 (GRCm39)	missense	probably damaging	1.00
R5162:Fgd5	UTSW	6	92,051,215 (GRCm39)	missense	probably damaging	1.00
R5525:Fgd5	UTSW	6	92,043,228 (GRCm39)	missense	probably damaging	1.00
R5570:Fgd5	UTSW	6	91,965,668 (GRCm39)	missense	probably damaging	1.00
R5936:Fgd5	UTSW	6	91,964,892 (GRCm39)	missense	probably damaging	0.98
R6012:Fgd5	UTSW	6	91,966,322 (GRCm39)	missense	possibly damaging	0.95
R6723:Fgd5	UTSW	6	91,965,011 (GRCm39)	missense	probably benign
R6764:Fgd5	UTSW	6	91,966,402 (GRCm39)	missense	probably damaging	0.96
R7187:Fgd5	UTSW	6	91,965,272 (GRCm39)	missense	possibly damaging	0.54
R7383:Fgd5	UTSW	6	91,964,099 (GRCm39)	missense	probably benign	0.01
R7418:Fgd5	UTSW	6	92,001,519 (GRCm39)	missense	probably benign	0.11
R7662:Fgd5	UTSW	6	92,026,912 (GRCm39)	splice site	probably null
R7788:Fgd5	UTSW	6	91,965,440 (GRCm39)	missense	possibly damaging	0.63
R7882:Fgd5	UTSW	6	92,045,459 (GRCm39)	missense	probably damaging	1.00
R7895:Fgd5	UTSW	6	91,964,262 (GRCm39)	missense	probably benign	0.03
R8041:Fgd5	UTSW	6	92,038,837 (GRCm39)	missense	probably damaging	0.98
R8053:Fgd5	UTSW	6	91,966,425 (GRCm39)	missense	probably benign	0.34
R8176:Fgd5	UTSW	6	91,964,965 (GRCm39)	missense	probably benign	0.13
R8243:Fgd5	UTSW	6	91,966,004 (GRCm39)	missense	possibly damaging	0.93
R8318:Fgd5	UTSW	6	91,964,477 (GRCm39)	missense	probably benign	0.17
R8772:Fgd5	UTSW	6	92,027,400 (GRCm39)	missense	probably damaging	0.99
R8804:Fgd5	UTSW	6	91,964,507 (GRCm39)	missense	probably benign
R9036:Fgd5	UTSW	6	92,046,447 (GRCm39)	nonsense	probably null
R9041:Fgd5	UTSW	6	91,964,427 (GRCm39)	missense	probably benign	0.15
R9173:Fgd5	UTSW	6	92,044,584 (GRCm39)	critical splice donor site	probably null
R9206:Fgd5	UTSW	6	92,015,191 (GRCm39)	missense	probably damaging	1.00
R9424:Fgd5	UTSW	6	91,956,017 (GRCm39)	nonsense	probably null
R9437:Fgd5	UTSW	6	91,964,627 (GRCm39)	missense	probably benign	0.07
R9715:Fgd5	UTSW	6	91,965,290 (GRCm39)	missense	possibly damaging	0.91
R9721:Fgd5	UTSW	6	91,965,278 (GRCm39)	missense	probably benign	0.09
X0064:Fgd5	UTSW	6	92,027,021 (GRCm39)	missense	probably benign	0.02
Z1176:Fgd5	UTSW	6	91,965,870 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02