Incidental Mutation 'IGL01821:Arhgdia'
ID 154538
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgdia
Ensembl Gene ENSMUSG00000025132
Gene Name Rho GDP dissociation inhibitor alpha
Synonyms 5330430M07Rik, Rho GDIalpha, Rho-GDI
Accession Numbers
Essential gene? Possibly essential (E-score: 0.638) question?
Stock # IGL01821
Quality Score
Status
Chromosome 11
Chromosomal Location 120468930-120472450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120471031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 56 (L56Q)
Ref Sequence ENSEMBL: ENSMUSP00000101803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067936] [ENSMUST00000106197]
AlphaFold Q99PT1
Predicted Effect probably damaging
Transcript: ENSMUST00000067936
AA Change: L56Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063714
Gene: ENSMUSG00000025132
AA Change: L56Q

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 201 5e-99 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106197
AA Change: L56Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101803
Gene: ENSMUSG00000025132
AA Change: L56Q

DomainStartEndE-ValueType
Pfam:Rho_GDI 11 201 4.6e-85 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193520
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a key role in the regulation of signaling through Rho GTPases. The encoded protein inhibits the disassociation of Rho family members from GDP (guanine diphosphate), thereby maintaining these factors in an inactive state. Activity of this protein is important in a variety of cellular processes, and expression of this gene may be altered in tumors. Mutations in this gene have been found in individuals with nephrotic syndrome, type 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
PHENOTYPE: Mice homozygous for a targeted null mutation develop nephrotic syndrome, including renal tubule dilation and degeneration, leading to premature death from renal failure. Male mice are sterile and female mice exhibit reduced fertility from postimplantation defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahi1 T C 10: 20,917,142 (GRCm39) probably null Het
Ahnak A G 19: 8,989,482 (GRCm39) I3589V probably benign Het
Camk2b C T 11: 5,947,890 (GRCm39) D112N possibly damaging Het
Eml6 A G 11: 29,771,699 (GRCm39) V664A probably benign Het
Gstm2 T C 3: 107,892,369 (GRCm39) D119G possibly damaging Het
Hic2 T C 16: 17,075,695 (GRCm39) F175L probably benign Het
Ifi214 T C 1: 173,356,891 (GRCm39) I71V probably damaging Het
Igkv17-121 G A 6: 68,013,848 (GRCm39) C16Y unknown Het
Inpp4a T C 1: 37,416,798 (GRCm39) S435P probably damaging Het
Irgm1 A G 11: 48,757,353 (GRCm39) S153P probably damaging Het
Lactb A T 9: 66,878,180 (GRCm39) S216R probably damaging Het
Nol7 A G 13: 43,552,216 (GRCm39) K87R probably benign Het
Or9m2 T A 2: 87,820,933 (GRCm39) H159Q probably benign Het
Patj G T 4: 98,344,448 (GRCm39) G18W probably damaging Het
Pjvk G T 2: 76,486,259 (GRCm39) G220C probably damaging Het
Prtg T C 9: 72,819,219 (GRCm39) Y1071H probably damaging Het
Psmb8 C A 17: 34,417,517 (GRCm39) Q49K probably benign Het
Rhcg C A 7: 79,248,346 (GRCm39) L419F probably benign Het
Slc6a5 A G 7: 49,564,601 (GRCm39) probably benign Het
Slc9a9 A G 9: 95,111,003 (GRCm39) D607G probably benign Het
Tenm2 G A 11: 35,914,710 (GRCm39) L2275F probably damaging Het
Thoc1 A G 18: 9,993,429 (GRCm39) D596G probably benign Het
Tie1 A G 4: 118,341,835 (GRCm39) F205L probably damaging Het
Traf7 G A 17: 24,729,473 (GRCm39) S446F probably damaging Het
Trnt1 G A 6: 106,751,436 (GRCm39) V138I probably damaging Het
Tsnaxip1 A T 8: 106,564,148 (GRCm39) Q116L probably damaging Het
Wdr47 T C 3: 108,534,520 (GRCm39) S480P probably damaging Het
Other mutations in Arhgdia
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Arhgdia APN 11 120,471,065 (GRCm39) missense probably damaging 1.00
IGL01696:Arhgdia APN 11 120,471,202 (GRCm39) utr 5 prime probably benign
IGL02625:Arhgdia APN 11 120,471,039 (GRCm39) missense probably benign 0.01
R1886:Arhgdia UTSW 11 120,470,244 (GRCm39) missense probably benign 0.00
R2520:Arhgdia UTSW 11 120,470,852 (GRCm39) missense probably damaging 1.00
R4709:Arhgdia UTSW 11 120,470,517 (GRCm39) missense probably damaging 1.00
R4940:Arhgdia UTSW 11 120,470,061 (GRCm39) missense probably damaging 1.00
R8504:Arhgdia UTSW 11 120,470,354 (GRCm39) missense probably benign 0.34
R9134:Arhgdia UTSW 11 120,470,392 (GRCm39) missense probably damaging 1.00
R9456:Arhgdia UTSW 11 120,470,068 (GRCm39) missense probably damaging 1.00
Posted On 2014-02-04