Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01135:Gdi2'

52602

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gdi2

Ensembl Gene

ENSMUSG00000021218

Gene Name

guanosine diphosphate (GDP) dissociation inhibitor 2

Synonyms

GDIB, Gdi3, GDI beta, GDI-B

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

3538063-3567871 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 3548855 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152454 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059515] [ENSMUST00000222365] [ENSMUST00000223396]

AlphaFold

Q61598

Predicted Effect

probably benign
Transcript: ENSMUST00000059515

SMART Domains

Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218

Domain	Start	End	E-Value	Type
Pfam:GDI	1	436	4.6e-239	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221348

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000221875

Predicted Effect

probably benign
Transcript: ENSMUST00000222365

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222906

Predicted Effect

probably benign
Transcript: ENSMUST00000223396

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] GDP dissociation inhibitors are proteins that regulate the GDP-GTP exchange reaction of members of the rab family, small GTP-binding proteins of the ras superfamily, that are involved in vesicular trafficking of molecules between cellular organelles. GDIs slow the rate of dissociation of GDP from rab proteins and release GDP from membrane-bound rabs. GDI2 is ubiquitously expressed. The GDI2 gene contains many repetitive elements indicating that it may be prone to inversion/deletion rearrangements. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,950,275	V124I	probably damaging	Het
5730507C01Rik	G	A	12: 18,533,374	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219	N848S	probably benign	Het
Blzf1	A	G	1: 164,303,930		probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,361,150	D267A	probably damaging	Het
Dtl	G	T	1: 191,548,330	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736	V1397I	probably benign	Het
Gm5155	A	T	7: 17,902,471		noncoding transcript	Het
Grik3	C	T	4: 125,632,415	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555		probably null	Het
Mfsd4b3	A	G	10: 39,948,072	M64T	probably benign	Het
Nox3	T	A	17: 3,696,252		probably benign	Het
Olfr693	C	T	7: 106,678,193	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035	T103S	probably benign	Het
Rfc4	G	A	16: 23,115,776	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,818,887	S8P	probably benign	Het
Syt17	C	T	7: 118,382,047	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,853,900	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,521,260		probably null	Het
Twf2	A	G	9: 106,212,828	I127V	probably benign	Het
Unc13c	A	G	9: 73,484,893	V2059A	probably damaging	Het

Other mutations in Gdi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Gdi2	APN	13	3556467	missense	probably benign	0.04
IGL01402:Gdi2	APN	13	3564611	missense	probably benign	0.24
IGL01404:Gdi2	APN	13	3564611	missense	probably benign	0.24
IGL02100:Gdi2	APN	13	3556373	missense	probably benign	0.03
IGL02305:Gdi2	APN	13	3556428	missense	probably damaging	1.00
IGL02545:Gdi2	APN	13	3557009	missense	probably damaging	1.00
IGL02561:Gdi2	APN	13	3548954	missense	possibly damaging	0.94
IGL02939:Gdi2	APN	13	3564623	missense	probably benign	0.21
E0354:Gdi2	UTSW	13	3561939	splice site	probably null
R1612:Gdi2	UTSW	13	3560051	missense	probably benign	0.00
R1775:Gdi2	UTSW	13	3560018	missense	possibly damaging	0.71
R1803:Gdi2	UTSW	13	3564547	nonsense	probably null
R2254:Gdi2	UTSW	13	3554400	splice site	probably null
R2426:Gdi2	UTSW	13	3562034	missense	probably benign	0.17
R4081:Gdi2	UTSW	13	3548866	missense	probably benign	0.10
R6365:Gdi2	UTSW	13	3565093	missense	possibly damaging	0.82
R7130:Gdi2	UTSW	13	3548891	missense	probably benign	0.12
R7268:Gdi2	UTSW	13	3556363	nonsense	probably null
R7349:Gdi2	UTSW	13	3556395	missense	probably benign	0.16
R7590:Gdi2	UTSW	13	3564611	missense	probably benign	0.24
R7753:Gdi2	UTSW	13	3548956	missense	probably benign	0.01
R8114:Gdi2	UTSW	13	3548906	missense	probably damaging	1.00
R9375:Gdi2	UTSW	13	3564869	missense	probably benign	0.34
R9731:Gdi2	UTSW	13	3538299	start codon destroyed	probably null	0.06

Posted On

2013-06-21