Incidental Mutation 'PIT4810001:Arhgdib'
ID 556842
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 # PIT4810001 (G1)
Quality Score 134.008
Status Not validated
Chromosome 6
Chromosomal Location 136900653-136918895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 136901162 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Valine at position 189 (E189V)
Ref Sequence ENSEMBL: ENSMUSP00000032344 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032343] [ENSMUST00000032344] [ENSMUST00000111891] [ENSMUST00000111892] [ENSMUST00000204627] [ENSMUST00000204934]
AlphaFold Q61599
Predicted Effect probably benign
Transcript: ENSMUST00000032343
SMART Domains Protein: ENSMUSP00000032343
Gene: ENSMUSG00000030219

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
low complexity region 48 61 N/A INTRINSIC
Pfam:Thioredoxin_6 64 251 2.8e-43 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000032344
AA Change: E189V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000032344
Gene: ENSMUSG00000030220
AA Change: E189V

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 197 4e-94 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111891
AA Change: E189V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107522
Gene: ENSMUSG00000030220
AA Change: E189V

DomainStartEndE-ValueType
Pfam:Rho_GDI 6 197 5.3e-79 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000111892
AA Change: E189V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000107523
Gene: ENSMUSG00000030220
AA Change: E189V

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 197 4e-94 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
  • 1x: 93.8%
  • 3x: 91.1%
  • 10x: 85.1%
  • 20x: 72.2%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik A G 16: 90,852,822 (GRCm39) S105P probably damaging Het
Adtrp C T 13: 41,981,724 (GRCm39) W48* probably null Het
Agxt2 A T 15: 10,399,151 (GRCm39) M413L probably benign Het
Ahnak2 T A 12: 112,749,214 (GRCm39) D211V Het
Aplnr T A 2: 84,967,628 (GRCm39) C218S probably damaging Het
Atp10a T C 7: 58,463,596 (GRCm39) I1043T probably damaging Het
Atp13a5 C T 16: 29,133,382 (GRCm39) C468Y probably damaging Het
Cars2 A T 8: 11,564,699 (GRCm39) C459S probably benign Het
Ccr3 T A 9: 123,829,645 (GRCm39) Y327N probably benign Het
Ceacam1 T A 7: 25,171,400 (GRCm39) I355F probably damaging Het
Celsr3 T C 9: 108,722,932 (GRCm39) L2773P probably damaging Het
Ces2g A T 8: 105,691,521 (GRCm39) H192L possibly damaging Het
Cfap157 A G 2: 32,671,444 (GRCm39) F121L probably damaging Het
Champ1 G A 8: 13,929,234 (GRCm39) S464N probably benign Het
Clasp2 T A 9: 113,735,135 (GRCm39) L990Q probably damaging Het
Col6a3 A T 1: 90,706,516 (GRCm39) L2806Q unknown Het
Cpz T C 5: 35,665,536 (GRCm39) E435G possibly damaging Het
Crbn T A 6: 106,761,440 (GRCm39) R233* probably null Het
Ctc1 C T 11: 68,913,352 (GRCm39) T116I probably benign Het
Cyp4f17 T C 17: 32,743,574 (GRCm39) S314P possibly damaging Het
Dmxl1 A G 18: 50,065,030 (GRCm39) E2625G probably damaging Het
Dock7 T A 4: 98,833,796 (GRCm39) R1874* probably null Het
E130311K13Rik A T 3: 63,823,122 (GRCm39) L174* probably null Het
Etnppl A G 3: 130,414,363 (GRCm39) D86G probably benign Het
Fbxw18 C A 9: 109,505,958 (GRCm39) E438* probably null Het
Gpatch8 T C 11: 102,372,668 (GRCm39) N290S unknown Het
Gpr155 A C 2: 73,178,607 (GRCm39) L727R probably benign Het
Gpr158 C G 2: 21,831,682 (GRCm39) D927E probably benign Het
Igsf10 T C 3: 59,225,903 (GRCm39) Y2590C probably damaging Het
Ints7 A G 1: 191,328,348 (GRCm39) D207G probably damaging Het
Iqsec1 A G 6: 90,647,473 (GRCm39) L743P probably damaging Het
Kansl1l A T 1: 66,801,308 (GRCm39) S553T probably damaging Het
Klhl14 G T 18: 21,690,880 (GRCm39) Y523* probably null Het
Krtap14 A G 16: 88,622,515 (GRCm39) S155P probably damaging Het
Lrrc3b A G 14: 15,358,273 (GRCm38) V111A probably benign Het
Maml2 A G 9: 13,531,320 (GRCm39) N178S Het
Megf8 G A 7: 25,041,710 (GRCm39) C1208Y probably damaging Het
Mocos A G 18: 24,819,759 (GRCm39) D667G probably damaging Het
Nid2 A G 14: 19,860,158 (GRCm39) T1359A possibly damaging Het
Nup210 T C 6: 91,007,106 (GRCm39) E1357G probably damaging Het
Or2d2 A T 7: 106,727,766 (GRCm39) M278K probably benign Het
Or4a2 A T 2: 89,248,297 (GRCm39) H153Q probably damaging Het
Or9s15 T A 1: 92,524,876 (GRCm39) F212I probably benign Het
Pign A G 1: 105,525,487 (GRCm39) V447A possibly damaging Het
Pomp T C 5: 147,806,229 (GRCm39) L57P probably benign Het
Pou2af2 C T 9: 51,202,992 (GRCm39) G54D possibly damaging Het
Rbms3 T A 9: 116,885,861 (GRCm39) Y128F probably damaging Het
Slc12a4 A G 8: 106,678,228 (GRCm39) F322L probably benign Het
Slc16a9 T A 10: 70,119,762 (GRCm39) C468* probably null Het
Slc22a18 A G 7: 143,046,668 (GRCm39) I271V probably benign Het
Slc25a41 A G 17: 57,346,933 (GRCm39) V20A possibly damaging Het
Smim7 A T 8: 73,324,857 (GRCm39) L6Q probably damaging Het
Snx29 T C 16: 11,218,845 (GRCm39) V227A probably damaging Het
Sowaha A T 11: 53,369,290 (GRCm39) L482Q probably damaging Het
Srp19 A G 18: 34,467,523 (GRCm39) Y68C probably damaging Het
Tecr A G 8: 84,298,884 (GRCm39) S298P probably damaging Het
Terb2 T A 2: 122,035,379 (GRCm39) I200N probably damaging Het
Togaram1 G A 12: 65,030,286 (GRCm39) S1030N probably damaging Het
Trav7n-4 A G 14: 53,329,193 (GRCm39) M68V probably benign Het
Tshz1 A C 18: 84,031,375 (GRCm39) L1011R possibly damaging Het
Tubb3 A G 8: 124,148,396 (GRCm39) E443G possibly damaging Het
Uba5 A T 9: 103,932,396 (GRCm39) I189K probably damaging Het
Vasn A G 16: 4,467,909 (GRCm39) T619A probably benign Het
Wbp1l A G 19: 46,642,761 (GRCm39) D254G probably benign Het
Zzef1 T C 11: 72,741,571 (GRCm39) F738L probably damaging 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
K7371:Arhgdib UTSW 6 136,909,297 (GRCm39) splice site probably null
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
Predicted Primers PCR Primer
(F):5'- TTGCAGGGAACACTCTGAGAG -3'
(R):5'- TTTCTTCCCAGTGGATAAAGCC -3'

Sequencing Primer
(F):5'- AACATATTGGTGATGAAATGTGTGTG -3'
(R):5'- AAGCCACATTCATGGTTGGC -3'
Posted On 2019-06-07