Incidental Mutation 'IGL01135:Gdi2'
ID52602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gdi2
Ensembl Gene ENSMUSG00000021218
Gene Nameguanosine diphosphate (GDP) dissociation inhibitor 2
SynonymsGDIB, Gdi3, GDI beta, GDI-B
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01135
Quality Score
Status
Chromosome13
Chromosomal Location3538063-3567871 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 3548855 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152454 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059515] [ENSMUST00000222365] [ENSMUST00000223396]
Predicted Effect probably benign
Transcript: ENSMUST00000059515
SMART Domains Protein: ENSMUSP00000062996
Gene: ENSMUSG00000021218

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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 unclassified 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
Posted On2013-06-21