Incidental Mutation 'IGL02625:Arhgdia'
ID 301020
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 # IGL02625
Quality Score
Status
Chromosome 11
Chromosomal Location 120468930-120472450 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120471039 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 53 (E53D)
Ref Sequence ENSEMBL: ENSMUSP00000101803 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067936] [ENSMUST00000106197]
AlphaFold Q99PT1
Predicted Effect probably benign
Transcript: ENSMUST00000067936
AA Change: E53D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000063714
Gene: ENSMUSG00000025132
AA Change: E53D

DomainStartEndE-ValueType
Pfam:Rho_GDI 1 201 5e-99 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000106197
AA Change: E53D

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000101803
Gene: ENSMUSG00000025132
AA Change: E53D

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg6 T A 4: 99,634,584 (GRCm39) C109S probably damaging Het
Ccr4 A C 9: 114,321,401 (GRCm39) C221W probably damaging Het
Ces2a G A 8: 105,466,910 (GRCm39) probably null Het
Chpf2 G T 5: 24,796,709 (GRCm39) E552* probably null Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnmt1 C T 9: 20,838,442 (GRCm39) R207H probably benign Het
Dock2 A G 11: 34,451,168 (GRCm39) probably null Het
Esr1 A T 10: 4,951,346 (GRCm39) T575S probably benign Het
Fancc A G 13: 63,545,965 (GRCm39) C93R probably damaging Het
Foxj3 A T 4: 119,482,114 (GRCm39) R523W unknown Het
Fryl C T 5: 73,227,220 (GRCm39) probably benign Het
Fsip2 A C 2: 82,779,836 (GRCm39) H194P probably benign Het
Gaa G A 11: 119,165,559 (GRCm39) V350I probably damaging Het
Gpn3 T A 5: 122,519,257 (GRCm39) I152N probably damaging Het
H2-M10.3 T A 17: 36,678,417 (GRCm39) H136L probably benign Het
H4c16 C T 6: 136,781,335 (GRCm39) probably benign Het
Hspg2 A G 4: 137,239,953 (GRCm39) D507G probably damaging Het
Jcad A G 18: 4,674,422 (GRCm39) E728G probably benign Het
Kat14 G A 2: 144,244,365 (GRCm39) R406H possibly damaging Het
Kcnma1 G T 14: 23,413,900 (GRCm39) D863E probably damaging Het
Lrp1 A G 10: 127,410,355 (GRCm39) Y1464H probably damaging Het
Map4 T C 9: 109,893,485 (GRCm39) S584P probably damaging Het
Nlrp4f G A 13: 65,347,085 (GRCm39) L58F probably damaging Het
Nlrp6 A G 7: 140,503,413 (GRCm39) I506M probably benign Het
Nudt17 G A 3: 96,613,780 (GRCm39) R266W probably damaging Het
Or4a47 A G 2: 89,665,740 (GRCm39) L183P probably damaging Het
Or4a69 A G 2: 89,313,018 (GRCm39) S154P probably damaging Het
Or52h9 A G 7: 104,202,780 (GRCm39) Y218C probably damaging Het
Plcb4 A G 2: 135,803,714 (GRCm39) E529G probably benign Het
Prss32 A T 17: 24,075,210 (GRCm39) I187F possibly damaging Het
Prss55 A T 14: 64,316,818 (GRCm39) I108K probably damaging Het
Rcl1 A G 19: 29,095,741 (GRCm39) M109V probably benign Het
Rho A T 6: 115,912,158 (GRCm39) M207L possibly damaging Het
Slc12a1 A G 2: 125,012,611 (GRCm39) D291G probably damaging Het
Slco2b1 A C 7: 99,309,330 (GRCm39) probably null Het
Stx11 T A 10: 12,817,661 (GRCm39) D21V possibly damaging Het
Svep1 T A 4: 58,115,807 (GRCm39) Y962F possibly damaging Het
Tbx5 G T 5: 119,974,972 (GRCm39) probably benign Het
Tcf12 C A 9: 71,830,039 (GRCm39) G141W probably damaging Het
Tmtc2 A G 10: 105,206,407 (GRCm39) M296T probably damaging Het
Trim13 T A 14: 61,842,999 (GRCm39) S339T probably benign Het
Ugt1a7c A G 1: 88,023,239 (GRCm39) K133E possibly damaging Het
Usp40 A G 1: 87,877,739 (GRCm39) V1050A probably benign Het
Vmn2r86 T G 10: 130,288,781 (GRCm39) N240T probably damaging Het
Wdr36 T C 18: 32,992,314 (GRCm39) V617A possibly damaging Het
Wdr38 A T 2: 38,888,424 (GRCm39) N7I probably damaging Het
Wdr6 T C 9: 108,452,704 (GRCm39) Y393C probably damaging Het
Zfp619 A T 7: 39,183,609 (GRCm39) probably benign 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
IGL01821:Arhgdia APN 11 120,471,031 (GRCm39) missense probably damaging 1.00
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 2015-04-16