Incidental Mutation 'IGL02625:Arhgdia'
ID301020
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgdia
Ensembl Gene ENSMUSG00000025132
Gene NameRho GDP dissociation inhibitor (GDI) alpha
SynonymsRho-GDI, 5330430M07Rik, Rho GDIalpha
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.358) question?
Stock #IGL02625
Quality Score
Status
Chromosome11
Chromosomal Location120578104-120581624 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 120580213 bp
ZygosityHeterozygous
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]
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: 99,746,347 C109S probably damaging Het
Ccr4 A C 9: 114,492,333 C221W probably damaging Het
Ces2a G A 8: 104,740,278 probably null Het
Chpf2 G T 5: 24,591,711 E552* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Dnmt1 C T 9: 20,927,146 R207H probably benign Het
Dock2 A G 11: 34,501,168 probably null Het
Esr1 A T 10: 5,001,346 T575S probably benign Het
Fancc A G 13: 63,398,151 C93R probably damaging Het
Foxj3 A T 4: 119,624,917 R523W unknown Het
Fryl C T 5: 73,069,877 probably benign Het
Fsip2 A C 2: 82,949,492 H194P probably benign Het
Gaa G A 11: 119,274,733 V350I probably damaging Het
Gpn3 T A 5: 122,381,194 I152N probably damaging Het
H2-M10.3 T A 17: 36,367,525 H136L probably benign Het
Hist4h4 C T 6: 136,804,337 probably benign Het
Hspg2 A G 4: 137,512,642 D507G probably damaging Het
Jcad A G 18: 4,674,422 E728G probably benign Het
Kat14 G A 2: 144,402,445 R406H possibly damaging Het
Kcnma1 G T 14: 23,363,832 D863E probably damaging Het
Lrp1 A G 10: 127,574,486 Y1464H probably damaging Het
Map4 T C 9: 110,064,417 S584P probably damaging Het
Nlrp4f G A 13: 65,199,271 L58F probably damaging Het
Nlrp6 A G 7: 140,923,500 I506M probably benign Het
Nudt17 G A 3: 96,706,464 R266W probably damaging Het
Olfr1241 A G 2: 89,482,674 S154P probably damaging Het
Olfr1256 A G 2: 89,835,396 L183P probably damaging Het
Olfr651 A G 7: 104,553,573 Y218C probably damaging Het
Plcb4 A G 2: 135,961,794 E529G probably benign Het
Prss32 A T 17: 23,856,236 I187F possibly damaging Het
Prss55 A T 14: 64,079,369 I108K probably damaging Het
Rcl1 A G 19: 29,118,341 M109V probably benign Het
Rho A T 6: 115,935,197 M207L possibly damaging Het
Slc12a1 A G 2: 125,170,691 D291G probably damaging Het
Slco2b1 A C 7: 99,660,123 probably null Het
Stx11 T A 10: 12,941,917 D21V possibly damaging Het
Svep1 T A 4: 58,115,807 Y962F possibly damaging Het
Tbx5 G T 5: 119,836,907 probably benign Het
Tcf12 C A 9: 71,922,757 G141W probably damaging Het
Tmtc2 A G 10: 105,370,546 M296T probably damaging Het
Trim13 T A 14: 61,605,550 S339T probably benign Het
Ugt1a7c A G 1: 88,095,517 K133E possibly damaging Het
Usp40 A G 1: 87,950,017 V1050A probably benign Het
Vmn2r86 T G 10: 130,452,912 N240T probably damaging Het
Wdr36 T C 18: 32,859,261 V617A possibly damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr6 T C 9: 108,575,505 Y393C probably damaging Het
Zfp619 A T 7: 39,534,185 probably benign Het
Other mutations in Arhgdia
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00849:Arhgdia APN 11 120580239 missense probably damaging 1.00
IGL01696:Arhgdia APN 11 120580376 utr 5 prime probably benign
IGL01821:Arhgdia APN 11 120580205 missense probably damaging 1.00
R1886:Arhgdia UTSW 11 120579418 missense probably benign 0.00
R2520:Arhgdia UTSW 11 120580026 missense probably damaging 1.00
R4709:Arhgdia UTSW 11 120579691 missense probably damaging 1.00
R4940:Arhgdia UTSW 11 120579235 missense probably damaging 1.00
Posted On2015-04-16