Incidental Mutation 'IGL02502:Arhgef6'
ID 296100
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef6
Ensembl Gene ENSMUSG00000031133
Gene Name Rac/Cdc42 guanine nucleotide exchange factor 6
Synonyms 1600028C08Rik, 4930592P22Rik, alpha-PIX, 1700038J06Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02502
Quality Score
Status
Chromosome X
Chromosomal Location 56276845-56384089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56325623 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 282 (E282G)
Ref Sequence ENSEMBL: ENSMUSP00000033468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033468] [ENSMUST00000114735] [ENSMUST00000176986]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000033468
AA Change: E282G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000033468
Gene: ENSMUSG00000031133
AA Change: E282G

DomainStartEndE-ValueType
CH 27 130 2.71e-21 SMART
Pfam:RhoGEF67_u1 138 183 4.4e-11 PFAM
SH3 186 241 7.33e-24 SMART
RhoGEF 268 443 1.04e-47 SMART
PH 473 573 1.02e-10 SMART
Pfam:RhoGEF67_u2 593 701 4e-65 PFAM
Pfam:betaPIX_CC 700 788 5.1e-41 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114735
AA Change: E19G

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000110383
Gene: ENSMUSG00000031133
AA Change: E19G

DomainStartEndE-ValueType
RhoGEF 5 180 1.04e-47 SMART
PH 210 310 1.02e-10 SMART
low complexity region 311 336 N/A INTRINSIC
low complexity region 396 407 N/A INTRINSIC
PDB:3L4F|C 418 476 2e-17 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134028
Predicted Effect possibly damaging
Transcript: ENSMUST00000176986
AA Change: E105G

PolyPhen 2 Score 0.666 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134851
Gene: ENSMUSG00000031133
AA Change: E105G

DomainStartEndE-ValueType
SH3 9 64 7.33e-24 SMART
RhoGEF 91 266 1.04e-47 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli that work through G protein coupled receptors. The encoded protein belongs to a family of cytoplasmic proteins that activate the Ras-like family of Rho proteins by exchanging bound GDP for GTP. It may form a complex with G proteins and stimulate Rho-dependent signals. This protein is activated by PI3-kinase. Mutations in this gene can cause X-chromosomal non-specific mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a truncated allele exhibit decreased mature lymphocyte cell numbers, decreased B and T cell proliferation, and defective humeral response. Mice homozygous for a reporter allele exhibit abnormal dendrite morphology and synaptic plasticity and cognitive defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A G 2: 127,917,804 (GRCm39) N216S probably damaging Het
Akap12 A G 10: 4,303,163 (GRCm39) D96G probably damaging Het
Akna A G 4: 63,286,440 (GRCm39) V1353A probably benign Het
Ambra1 A G 2: 91,730,877 (GRCm39) D914G probably damaging Het
Ap1s3 A G 1: 79,601,439 (GRCm39) V84A possibly damaging Het
C2cd2 G T 16: 97,677,590 (GRCm39) S378Y possibly damaging Het
Cd101 C A 3: 100,919,141 (GRCm39) A654S probably damaging Het
Cep295 A C 9: 15,262,209 (GRCm39) probably benign Het
Csn1s1 A G 5: 87,828,784 (GRCm39) I283V probably benign Het
Cst3 A G 2: 148,717,065 (GRCm39) probably benign Het
Cyp2b9 T C 7: 25,887,239 (GRCm39) probably null Het
Dffb A G 4: 154,050,073 (GRCm39) probably benign Het
Dnah10 A G 5: 124,898,351 (GRCm39) Y3711C probably damaging Het
Eif4g2 T C 7: 110,680,748 (GRCm39) S3G probably damaging Het
Erbb3 C T 10: 128,406,153 (GRCm39) R1088H probably benign Het
Evpl T C 11: 116,113,544 (GRCm39) D1382G probably damaging Het
Fam168a A G 7: 100,473,417 (GRCm39) D102G probably damaging Het
Fbxo7 A G 10: 85,869,161 (GRCm39) Y284C probably damaging Het
G6pd2 T C 5: 61,966,971 (GRCm39) Y249H probably damaging Het
Gm1123 A T 9: 98,891,443 (GRCm39) Y335* probably null Het
Gm5624 C T 14: 44,797,296 (GRCm39) probably null Het
Hectd1 A T 12: 51,844,635 (GRCm39) M536K possibly damaging Het
Ikbkg T A X: 73,487,433 (GRCm39) V334E probably benign Het
Ipo7 T C 7: 109,650,257 (GRCm39) L769P probably damaging Het
Jmjd1c A T 10: 67,061,640 (GRCm39) K1331I probably benign Het
Krt32 T C 11: 99,978,749 (GRCm39) K102E probably damaging Het
Lrrc34 A T 3: 30,699,394 (GRCm39) N20K probably benign Het
Lrrc47 A G 4: 154,100,471 (GRCm39) E349G probably benign Het
Mdn1 A G 4: 32,670,579 (GRCm39) I415V possibly damaging Het
Myh10 A G 11: 68,705,198 (GRCm39) probably null Het
Nbeal2 A G 9: 110,462,836 (GRCm39) S1376P probably damaging Het
Nfx1 T C 4: 40,976,345 (GRCm39) probably benign Het
Nherf4 G A 9: 44,160,948 (GRCm39) A206V probably benign Het
Notch3 A T 17: 32,377,252 (GRCm39) C246* probably null Het
Nr3c2 A G 8: 77,969,143 (GRCm39) Y976C probably damaging Het
Or51b17 A G 7: 103,542,696 (GRCm39) V82A probably damaging Het
Or52n4b T A 7: 108,143,846 (GRCm39) M36K probably damaging Het
Or5b122 A G 19: 13,563,112 (GRCm39) Y105C probably damaging Het
P2rx7 C T 5: 122,819,050 (GRCm39) R491C possibly damaging Het
Phex T A X: 155,966,823 (GRCm39) Y625F possibly damaging Het
Pkhd1 T C 1: 20,462,389 (GRCm39) D2055G probably damaging Het
Pmm2 T C 16: 8,463,227 (GRCm39) probably benign Het
Prdm15 T C 16: 97,640,539 (GRCm39) D16G probably damaging Het
Prune2 T A 19: 17,101,245 (GRCm39) C2250S probably benign Het
Rasgef1a T A 6: 118,057,443 (GRCm39) F48Y probably benign Het
Rhoq T C 17: 87,271,077 (GRCm39) V15A probably damaging Het
Rnf216 G A 5: 143,054,622 (GRCm39) A585V probably damaging Het
Septin9 T A 11: 117,181,488 (GRCm39) I96N probably damaging Het
Shprh T A 10: 11,070,101 (GRCm39) D1492E possibly damaging Het
Slc22a26 A T 19: 7,768,125 (GRCm39) probably null Het
Tek T G 4: 94,741,818 (GRCm39) probably null Het
Tenm3 T C 8: 48,741,051 (GRCm39) E782G probably damaging Het
Trmt5 A G 12: 73,328,001 (GRCm39) C401R probably benign Het
Tspear T G 10: 77,688,792 (GRCm39) probably benign Het
Ubr5 G A 15: 38,030,933 (GRCm39) T414I probably benign Het
Vcl A T 14: 21,069,453 (GRCm39) T710S probably damaging Het
Vmn2r25 A T 6: 123,816,392 (GRCm39) D396E probably damaging Het
Wtip A G 7: 33,818,094 (GRCm39) probably null Het
Zap70 A G 1: 36,817,887 (GRCm39) probably benign Het
Other mutations in Arhgef6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Arhgef6 APN X 56,290,992 (GRCm39) critical splice acceptor site probably null
IGL02049:Arhgef6 APN X 56,321,271 (GRCm39) missense probably damaging 0.99
IGL02584:Arhgef6 APN X 56,291,738 (GRCm39) unclassified probably benign
IGL03038:Arhgef6 APN X 56,290,966 (GRCm39) missense probably benign 0.00
IGL03294:Arhgef6 APN X 56,382,338 (GRCm39) missense possibly damaging 0.52
R1382:Arhgef6 UTSW X 56,383,922 (GRCm39) missense probably benign 0.01
R1385:Arhgef6 UTSW X 56,383,922 (GRCm39) missense probably benign 0.01
R1388:Arhgef6 UTSW X 56,383,922 (GRCm39) missense probably benign 0.01
R1432:Arhgef6 UTSW X 56,383,922 (GRCm39) missense probably benign 0.01
R1500:Arhgef6 UTSW X 56,383,922 (GRCm39) missense probably benign 0.01
R1503:Arhgef6 UTSW X 56,383,922 (GRCm39) missense probably benign 0.01
R1556:Arhgef6 UTSW X 56,383,922 (GRCm39) missense probably benign 0.01
R1749:Arhgef6 UTSW X 56,383,922 (GRCm39) missense probably benign 0.01
R1764:Arhgef6 UTSW X 56,383,922 (GRCm39) missense probably benign 0.01
R1767:Arhgef6 UTSW X 56,383,922 (GRCm39) missense probably benign 0.01
R2010:Arhgef6 UTSW X 56,344,865 (GRCm39) missense possibly damaging 0.95
R4928:Arhgef6 UTSW X 56,280,238 (GRCm39) missense probably damaging 1.00
Z1177:Arhgef6 UTSW X 56,349,984 (GRCm39) start gained probably benign
Posted On 2015-04-16