Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01505:Fgd2'

89030

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fgd2

Ensembl Gene

ENSMUSG00000024013

Gene Name

FYVE, RhoGEF and PH domain containing 2

Synonyms

Tcd-2, tcs2, Tcd2, tcs-2

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01505

Quality Score

Status

Chromosome

Chromosomal Location

29360914-29379660 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 29366997 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 185 (V185E)

Ref Sequence

ENSEMBL: ENSMUSP00000118828 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024810] [ENSMUST00000123989]

Predicted Effect

probably damaging
Transcript: ENSMUST00000024810
AA Change: V185E

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

SMART Domains

Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013
AA Change: V185E

Domain	Start	End	E-Value	Type
RhoGEF	106	289	4.49e-66	SMART
PH	320	420	2.09e-16	SMART
FYVE	450	519	1.07e-28	SMART
PH	545	643	5.09e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000123989
AA Change: V185E

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

SMART Domains

Protein: ENSMUSP00000118828
Gene: ENSMUSG00000024013
AA Change: V185E

Domain	Start	End	E-Value	Type
RhoGEF	106	289	4.49e-66	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140918

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146800

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to a family of guanine nucleotide exchange factors (GEFs) which control cytoskeleton-dependent membrane rearrangements by activating the cell division cycle 42 (CDC42) protein. This gene is expressed in B lymphocytes, macrophages, and dendritic cells. The encoded protein may play a role in leukocyte signaling and vesicle trafficking in antigen-presenting cells in the immune system. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930546C10Rik	T	C	18: 68,947,347		probably null	Het
A2m	A	G	6: 121,676,947	N1413S	possibly damaging	Het
Arhgap45	A	T	10: 80,026,542	N488Y	probably benign	Het
Arid4a	G	A	12: 71,037,115	D94N	probably damaging	Het
Atp7a	A	G	X: 106,109,830	K1114E	probably damaging	Het
Atp8a2	C	T	14: 60,028,063	V275M	probably benign	Het
Ceacam12	T	C	7: 18,067,432	V112A	probably damaging	Het
Cep295	T	A	9: 15,318,049	D2256V	probably benign	Het
Chid1	A	T	7: 141,513,894		probably null	Het
Clcn5	A	T	X: 7,170,439	L268*	probably null	Het
Cldn17	A	G	16: 88,506,703	I46T	possibly damaging	Het
Cnot1	A	T	8: 95,728,718	I2025N	probably damaging	Het
Cntn5	C	T	9: 9,706,087	V574M	probably damaging	Het
Col14a1	T	A	15: 55,455,223	C1373S	unknown	Het
Col9a1	A	G	1: 24,185,124	N129S	unknown	Het
Cp	C	T	3: 19,977,192	P598S	possibly damaging	Het
Cpb1	G	A	3: 20,266,246	R150C	probably damaging	Het
Cyp2j7	T	A	4: 96,227,680		probably null	Het
Dnajb7	T	C	15: 81,407,491	E215G	possibly damaging	Het
Dock1	G	A	7: 135,158,510	R1634Q	possibly damaging	Het
Dopey2	A	G	16: 93,757,116	T313A	possibly damaging	Het
Flnb	T	C	14: 7,902,003		probably null	Het
Fzd7	A	G	1: 59,483,903	E315G	probably benign	Het
Gjc1	T	A	11: 102,800,726	K150N	probably benign	Het
Gm436	C	T	4: 144,674,618	V99M	probably damaging	Het
Gpihbp1	C	T	15: 75,598,128		probably benign	Het
Gpr160	T	C	3: 30,895,853	S25P	possibly damaging	Het
Grsf1	G	A	5: 88,672,749	R58*	probably null	Het
Ifit1	T	A	19: 34,648,454	M330K	probably benign	Het
Igkv1-122	T	C	6: 68,017,194	V22A	probably benign	Het
Ikbke	A	T	1: 131,255,311	D692E	probably benign	Het
Il15ra	T	C	2: 11,733,145		probably benign	Het
Il18rap	A	G	1: 40,537,084	I252V	probably damaging	Het
Klra10	C	T	6: 130,272,717	G202R	probably damaging	Het
Kpna7	A	G	5: 144,992,851	V388A	probably damaging	Het
L2hgdh	A	G	12: 69,721,401	S108P	probably damaging	Het
Msto1	G	A	3: 88,910,743	T388M	probably benign	Het
Naip1	T	C	13: 100,425,933	E908G	probably damaging	Het
Neto1	C	A	18: 86,473,689	D238E	possibly damaging	Het
Nlrp5	T	A	7: 23,417,734	D294E	probably benign	Het
Nr3c2	T	C	8: 76,909,187	S306P	probably damaging	Het
Olfr890	T	A	9: 38,143,871	C240*	probably null	Het
Pard3	T	A	8: 127,324,063	L202H	probably damaging	Het
Pdzd2	T	C	15: 12,458,207	N190S	probably damaging	Het
Pi4ka	T	C	16: 17,309,358	D1077G	probably benign	Het
Pmfbp1	A	C	8: 109,513,911	L208F	probably damaging	Het
Pms1	C	T	1: 53,206,971	D470N	probably benign	Het
Prdm10	T	C	9: 31,327,282	F108L	probably benign	Het
Rab11fip1	A	T	8: 27,154,776	M327K	possibly damaging	Het
Slc37a4	T	A	9: 44,399,964	L184Q	probably damaging	Het
Smdt1	T	C	15: 82,347,893		probably benign	Het
Smg6	A	G	11: 75,156,291	Y1270C	probably damaging	Het
Speer4f2	T	A	5: 17,376,567	V169E	possibly damaging	Het
Stpg2	C	T	3: 139,317,453	A410V	probably benign	Het
Tnrc6b	T	A	15: 80,879,963	D555E	probably benign	Het
Tsg101	A	G	7: 46,909,060	Y46H	probably damaging	Het
Vmn2r111	G	A	17: 22,548,572	S648L	probably benign	Het
Vmn2r73	T	A	7: 85,858,059	R682*	probably null	Het
Xkr5	A	T	8: 18,933,498	I676N	probably damaging	Het

Other mutations in Fgd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Fgd2	APN	17	29367975	missense	probably damaging	1.00
IGL03240:Fgd2	APN	17	29361161	splice site	probably benign
ceci	UTSW	17	29368376	splice site	probably null
R0046:Fgd2	UTSW	17	29374990	splice site	probably benign
R0271:Fgd2	UTSW	17	29367008	missense	possibly damaging	0.94
R0594:Fgd2	UTSW	17	29365552	missense	probably damaging	1.00
R0612:Fgd2	UTSW	17	29378347	missense	probably benign	0.45
R1470:Fgd2	UTSW	17	29374108	splice site	probably benign
R1551:Fgd2	UTSW	17	29378409	missense	probably damaging	1.00
R1596:Fgd2	UTSW	17	29376930	missense	probably benign	0.43
R1664:Fgd2	UTSW	17	29369299	missense	probably damaging	1.00
R1689:Fgd2	UTSW	17	29363722	missense	probably benign
R1691:Fgd2	UTSW	17	29378944	nonsense	probably null
R1695:Fgd2	UTSW	17	29368245	missense	possibly damaging	0.88
R2697:Fgd2	UTSW	17	29376921	missense	probably damaging	1.00
R3500:Fgd2	UTSW	17	29365601	missense	possibly damaging	0.74
R3689:Fgd2	UTSW	17	29378950	missense	probably benign	0.00
R4583:Fgd2	UTSW	17	29367078	missense	possibly damaging	0.87
R4871:Fgd2	UTSW	17	29373249	missense	possibly damaging	0.89
R5011:Fgd2	UTSW	17	29374980	critical splice donor site	probably null
R5209:Fgd2	UTSW	17	29368376	splice site	probably null
R7106:Fgd2	UTSW	17	29376970	nonsense	probably null
R7139:Fgd2	UTSW	17	29373255	missense	probably damaging	1.00
R7712:Fgd2	UTSW	17	29376912	missense	probably benign	0.01
R7833:Fgd2	UTSW	17	29367395	missense	possibly damaging	0.81
R7834:Fgd2	UTSW	17	29364951	missense	probably damaging	1.00
R7913:Fgd2	UTSW	17	29374045	missense	probably damaging	1.00
R8547:Fgd2	UTSW	17	29364960	missense	probably damaging	0.99
Z1177:Fgd2	UTSW	17	29378326	missense	probably benign	0.05

Posted On

2013-12-03