Incidental Mutation 'IGL02648:Arhgdib'
ID 302011
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02648
Quality Score
Status
Chromosome 6
Chromosomal Location 136900653-136918895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136910647 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 38 (D38G)
Ref Sequence ENSEMBL: ENSMUSP00000107523 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032344] [ENSMUST00000111891] [ENSMUST00000111892] [ENSMUST00000154440] [ENSMUST00000204627] [ENSMUST00000204934]
AlphaFold Q61599
Predicted Effect probably damaging
Transcript: ENSMUST00000032344
AA Change: D38G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000032344
Gene: ENSMUSG00000030220
AA Change: D38G

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 197 4e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111891
AA Change: D38G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107522
Gene: ENSMUSG00000030220
AA Change: D38G

DomainStartEndE-ValueType
Pfam:Rho_GDI 6 197 5.3e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111892
AA Change: D38G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107523
Gene: ENSMUSG00000030220
AA Change: D38G

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 197 4e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000154440
AA Change: D38G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000120047
Gene: ENSMUSG00000030220
AA Change: D38G

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
Coding Region Coverage
Validation Efficiency
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A T 4: 144,344,392 (GRCm39) probably null Het
Acp4 A G 7: 43,904,414 (GRCm39) probably benign Het
Adgrv1 A T 13: 81,659,738 (GRCm39) M1997K probably benign Het
Bbox1 T G 2: 110,135,871 (GRCm39) D36A probably damaging Het
Cacna1c T C 6: 118,734,457 (GRCm39) K104R probably damaging Het
Cacna1i G A 15: 80,182,839 (GRCm39) C75Y probably damaging Het
Ccdc14 T C 16: 34,517,528 (GRCm39) L70S probably damaging Het
Ccdc88a T G 11: 29,451,051 (GRCm39) V1580G probably benign Het
Cdadc1 C A 14: 59,823,812 (GRCm39) D227Y probably damaging Het
Chd3 T C 11: 69,242,976 (GRCm39) Y1415C probably damaging Het
Cngb3 A G 4: 19,428,489 (GRCm39) N493S probably benign Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Gm10549 C A 18: 33,597,303 (GRCm39) probably benign Het
Greb1 C T 12: 16,758,683 (GRCm39) V678M probably damaging Het
Gucy2c G A 6: 136,706,211 (GRCm39) R497* probably null Het
Itgad T C 7: 127,782,546 (GRCm39) probably benign Het
Lgr4 C A 2: 109,842,718 (GRCm39) T877K probably damaging Het
Lrig3 A G 10: 125,802,463 (GRCm39) D40G probably benign Het
Myo3b T C 2: 69,935,716 (GRCm39) probably benign Het
Neb A G 2: 52,161,093 (GRCm39) Y2193H possibly damaging Het
Or4b1 T A 2: 89,979,697 (GRCm39) I218F possibly damaging Het
Or8b3b T C 9: 38,584,312 (GRCm39) M143V probably benign Het
Pard6b A G 2: 167,940,847 (GRCm39) Q278R probably benign Het
Pate10 A T 9: 35,652,405 (GRCm39) M21L probably benign Het
Pkd2l1 T C 19: 44,143,975 (GRCm39) Y366C possibly damaging Het
Prl2c1 A G 13: 28,041,542 (GRCm39) D188G probably benign Het
Prl3a1 G T 13: 27,454,218 (GRCm39) M65I probably benign Het
Psg26 T A 7: 18,216,691 (GRCm39) E49D probably benign Het
Rapgef3 G A 15: 97,656,273 (GRCm39) R38W probably damaging Het
Rrn3 T C 16: 13,629,453 (GRCm39) F590L probably benign Het
Serpina12 T C 12: 104,004,267 (GRCm39) K122E probably benign Het
Slc39a6 T C 18: 24,715,424 (GRCm39) I699V probably damaging Het
Tmem259 G A 10: 79,813,651 (GRCm39) P443S probably damaging Het
Vmn1r75 T A 7: 11,615,091 (GRCm39) F274L probably benign 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
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
K7371:Arhgdib UTSW 6 136,909,297 (GRCm39) splice site probably null
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 2015-04-16