Incidental Mutation 'K7371:Arhgdib'
ID 7871
Institutional Source Beutler Lab
Gene Symbol Arhgdib
Ensembl Gene ENSMUSG00000030220
Gene Name Rho, GDP dissociation inhibitor beta
Synonyms D4, Ly-GDI, Gdid4
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # K7371 of strain 614
Quality Score
Status Validated
Chromosome 6
Chromosomal Location 136900653-136918895 bp(-) (GRCm39)
Type of Mutation splice site (1312 bp from exon)
DNA Base Change (assembly) A to T at 136909297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120047 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032344] [ENSMUST00000111891] [ENSMUST00000111892] [ENSMUST00000154440] [ENSMUST00000204627] [ENSMUST00000204934]
AlphaFold Q61599
Predicted Effect probably benign
Transcript: ENSMUST00000032344
AA Change: C75S

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000032344
Gene: ENSMUSG00000030220
AA Change: C75S

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 197 4e-94 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111891
AA Change: C75S

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107522
Gene: ENSMUSG00000030220
AA Change: C75S

DomainStartEndE-ValueType
Pfam:Rho_GDI 6 197 5.3e-79 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111892
AA Change: C75S

PolyPhen 2 Score 0.077 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000107523
Gene: ENSMUSG00000030220
AA Change: C75S

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 197 4e-94 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000154440
SMART Domains Protein: ENSMUSP00000120047
Gene: ENSMUSG00000030220

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 50 5.4e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204627
SMART Domains Protein: ENSMUSP00000145191
Gene: ENSMUSG00000064330

DomainStartEndE-ValueType
Pfam:PDE6_gamma 2 74 1.5e-41 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000204934
SMART Domains Protein: ENSMUSP00000145103
Gene: ENSMUSG00000030220

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 89 1.5e-38 PFAM
Meta Mutation Damage Score 0.5225 question?
Coding Region Coverage
  • 1x: 85.4%
  • 3x: 78.2%
Validation Efficiency 72% (67/93)
MGI Phenotype FUNCTION: The protein encoded by this gene is a member of the Rho guanine nucleotide dissociation inhibitor (GDI) family. This gene is expressed at high levels in hematopoietic cells. This protein is cytosolic, and dissociation of Rho from this protein is required for membrane association and activation of Rho by Guanine Nucleotide Exchange Factors (GEFs). C-terminal truncations of this gene product have been reported to promote metastasis. Multiple transcript variants and protein isoforms exist. [provided by RefSeq, Aug 2014]
PHENOTYPE: A homozygous null mutation results in mice that are viable and fertile. Immune responses are similar to controls in mice, but in vitro analysis demonstrated an increased B cell proliferative response upon lectin stimulation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610008E11Rik T C 10: 78,903,767 (GRCm39) Y155C probably benign Homo
Alpi G A 1: 87,026,893 (GRCm39) probably benign Homo
Ap4e1 T A 2: 126,908,456 (GRCm39) probably benign Het
Ckap5 T C 2: 91,425,868 (GRCm39) probably benign Het
Ddx50 A T 10: 62,457,289 (GRCm39) M1K probably null Het
Ell3 T C 2: 121,269,969 (GRCm39) H380R probably damaging Het
Epx A G 11: 87,755,710 (GRCm39) V658A probably damaging Homo
Ern1 A T 11: 106,291,101 (GRCm39) I858N probably damaging Homo
Mtmr10 G A 7: 63,963,958 (GRCm39) G231D probably benign Het
Nfx1 A G 4: 40,976,803 (GRCm39) D159G probably damaging Homo
Opn5 A G 17: 42,891,522 (GRCm39) I305T probably damaging Homo
Pak2 T C 16: 31,852,602 (GRCm39) probably benign Het
Pkhd1l1 T A 15: 44,400,838 (GRCm39) I2204K possibly damaging Het
Pkhd1l1 A T 15: 44,363,463 (GRCm39) T628S possibly damaging Het
Smgc T A 15: 91,744,453 (GRCm39) probably benign Het
Stab1 G A 14: 30,872,206 (GRCm39) L1194F probably damaging Het
Stab2 A G 10: 86,779,153 (GRCm39) probably null Homo
Tet1 T C 10: 62,714,955 (GRCm39) D280G probably benign Het
Vcam1 A G 3: 115,918,298 (GRCm39) I227T probably benign Homo
Wdr87-ps A G 7: 29,230,417 (GRCm39) noncoding transcript Het
Other mutations in Arhgdib
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Arhgdib APN 6 136,910,622 (GRCm39) missense probably damaging 1.00
IGL01712:Arhgdib APN 6 136,901,195 (GRCm39) missense probably damaging 1.00
IGL02589:Arhgdib APN 6 136,910,576 (GRCm39) intron probably benign
IGL02648:Arhgdib APN 6 136,910,647 (GRCm39) missense probably damaging 1.00
IGL02682:Arhgdib APN 6 136,901,166 (GRCm39) missense probably damaging 1.00
IGL03381:Arhgdib APN 6 136,909,314 (GRCm39) missense probably benign 0.30
PIT4810001:Arhgdib UTSW 6 136,901,162 (GRCm39) missense probably damaging 1.00
R0270:Arhgdib UTSW 6 136,903,732 (GRCm39) missense probably damaging 1.00
R1755:Arhgdib UTSW 6 136,906,612 (GRCm39) nonsense probably null
R4289:Arhgdib UTSW 6 136,901,156 (GRCm39) missense probably benign 0.02
R5927:Arhgdib UTSW 6 136,901,136 (GRCm39) missense probably damaging 1.00
R6364:Arhgdib UTSW 6 136,909,253 (GRCm39) splice site probably null
R8010:Arhgdib UTSW 6 136,903,720 (GRCm39) missense probably damaging 1.00
R8031:Arhgdib UTSW 6 136,901,274 (GRCm39) missense probably benign 0.10
R9794:Arhgdib UTSW 6 136,906,608 (GRCm39) critical splice donor site probably null
Z1088:Arhgdib UTSW 6 136,910,616 (GRCm39) missense probably damaging 1.00
Posted On 2012-11-12