Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03240:Fgd2'

414267

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: 0.211) question?

Stock #

IGL03240

Quality Score

Status

Chromosome

Chromosomal Location

29360914-29379660 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 29361161 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118828 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000024810

SMART Domains

Protein: ENSMUSP00000024810
Gene: ENSMUSG00000024013

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 benign
Transcript: ENSMUST00000123989

SMART Domains

Protein: ENSMUSP00000118828
Gene: ENSMUSG00000024013

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138537

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	T	C	3: 124,556,716		probably benign	Het
AA467197	A	G	2: 122,639,262	T57A	probably benign	Het
Akap11	A	T	14: 78,495,905	D1852E	probably damaging	Het
Arg2	T	A	12: 79,131,831		probably null	Het
Arhgef4	A	G	1: 34,806,026	D1437G	probably benign	Het
AW551984	C	A	9: 39,589,122	R780L	probably benign	Het
Baz1a	T	A	12: 54,927,567	K503*	probably null	Het
Cdk2ap1	A	T	5: 124,346,144	H96Q	probably damaging	Het
Col11a1	T	A	3: 114,217,210		probably null	Het
Col12a1	A	T	9: 79,678,383		probably null	Het
Col22a1	G	A	15: 71,807,928	P877S	unknown	Het
Col7a1	A	T	9: 108,968,373	N1681Y	probably null	Het
Dennd1b	T	G	1: 139,139,392	S398A	possibly damaging	Het
Fam126b	A	G	1: 58,529,917	L501P	probably damaging	Het
Fam129b	A	C	2: 32,922,097	Y397S	probably benign	Het
Hadh	T	C	3: 131,248,543	S98G	probably benign	Het
Has2	C	T	15: 56,668,260	R353H	probably damaging	Het
Heg1	T	C	16: 33,727,413	S857P	probably benign	Het
Hemgn	T	A	4: 46,400,732	R43*	probably null	Het
Htr4	A	T	18: 62,437,621	H249L	possibly damaging	Het
Iqgap3	T	C	3: 88,114,974	S495P	probably benign	Het
Kars	T	C	8: 112,005,639	D99G	probably benign	Het
Krt40	T	A	11: 99,537,568	S333C	probably damaging	Het
Lamc2	T	C	1: 153,124,125	I1163V	probably damaging	Het
Lrrn2	A	T	1: 132,938,327	I377F	possibly damaging	Het
Mcm5	T	A	8: 75,115,902	I268N	probably damaging	Het
Mmp21	G	T	7: 133,674,571	H514Q	probably damaging	Het
Mtcl1	G	A	17: 66,338,019	P1478S	probably damaging	Het
Mybbp1a	A	G	11: 72,445,666	T495A	possibly damaging	Het
Myo10	T	A	15: 25,701,602	V21E	probably damaging	Het
Nap1l4	A	G	7: 143,538,245	S49P	probably benign	Het
Ncoa2	G	A	1: 13,177,092	S369F	probably damaging	Het
Olfr1009	A	T	2: 85,722,331	K309*	probably null	Het
Pon2	A	G	6: 5,265,316		probably benign	Het
Ppdpf	T	C	2: 181,187,880	S43P	probably benign	Het
Psmd6	A	G	14: 14,112,393		probably benign	Het
Ptprk	G	T	10: 28,492,961	R643L	probably damaging	Het
Ptprq	T	A	10: 107,688,507	Y455F	probably benign	Het
Sec23b	G	A	2: 144,566,759		probably benign	Het
Sh3pxd2a	A	G	19: 47,268,026	L751P	probably damaging	Het
Snx6	T	A	12: 54,783,443	H77L	probably damaging	Het
Svep1	C	A	4: 58,048,188	C3472F	possibly damaging	Het
Trpd52l3	A	T	19: 30,003,996	E50D	probably damaging	Het
Ttc33	A	G	15: 5,217,328	D205G	probably damaging	Het
Tubgcp3	A	T	8: 12,649,797	V352E	probably benign	Het
Tulp2	T	G	7: 45,522,310	F436C	probably damaging	Het
Uhrf1bp1	C	A	17: 27,893,253	N1167K	probably benign	Het
Vmn1r123	T	A	7: 21,162,357	M58K	possibly damaging	Het
Vmn2r113	T	C	17: 22,955,957	V514A	probably benign	Het
Vps13c	T	C	9: 67,955,047	V2982A	probably benign	Het
Ywhaq	T	C	12: 21,395,000	T215A	possibly damaging	Het
Zfp677	A	T	17: 21,396,873	H64L	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
IGL01505:Fgd2	APN	17	29366997	missense	probably damaging	1.00
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
R8686:Fgd2	UTSW	17	29379023	missense	probably benign
Z1177:Fgd2	UTSW	17	29378326	missense	probably benign	0.05

Posted On

2016-08-02