Incidental Mutation 'IGL03294:Arhgef6'
ID 415998
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 # IGL03294
Quality Score
Status
Chromosome X
Chromosomal Location 56276845-56384089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56382338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 99 (K99E)
Ref Sequence ENSEMBL: ENSMUSP00000033468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033468]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000033468
AA Change: K99E

PolyPhen 2 Score 0.521 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000033468
Gene: ENSMUSG00000031133
AA Change: K99E

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 noncoding transcript
Transcript: ENSMUST00000135098
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6030498E09Rik A T X: 38,047,315 (GRCm39) M119L probably benign Het
Akap10 A T 11: 61,768,179 (GRCm39) V646D probably damaging Het
Aldh3a1 A G 11: 61,105,548 (GRCm39) Y218C probably damaging Het
Arfgef3 T A 10: 18,540,660 (GRCm39) L174F probably damaging Het
Atp9a T C 2: 168,531,225 (GRCm39) K163E probably benign Het
Birc6 C T 17: 74,956,881 (GRCm39) A3605V probably benign Het
C8b G A 4: 104,637,888 (GRCm39) R120Q probably benign Het
Ccr1l1 A C 9: 123,778,444 (GRCm39) M1R probably null Het
Clca3a2 A G 3: 144,803,530 (GRCm39) S105P probably damaging Het
Cntnap1 A G 11: 101,072,508 (GRCm39) T502A possibly damaging Het
Ddx10 C T 9: 53,028,452 (GRCm39) probably null Het
Dnah5 G A 15: 28,233,441 (GRCm39) probably null Het
Dock9 A T 14: 121,879,035 (GRCm39) probably benign Het
Gli2 A G 1: 118,765,166 (GRCm39) V995A probably benign Het
Gpr34 T C X: 13,505,788 (GRCm39) Y106H probably damaging Het
Kmt2a A T 9: 44,731,862 (GRCm39) probably benign Het
Lamc1 C A 1: 153,138,392 (GRCm39) R154L probably damaging Het
Mat1a T A 14: 40,827,561 (GRCm39) V5E probably benign Het
Meioc A T 11: 102,571,495 (GRCm39) E943V probably damaging Het
Mtcl1 G A 17: 66,645,014 (GRCm39) P1478S probably damaging Het
Nav2 C T 7: 49,141,205 (GRCm39) R917* probably null Het
Or4f47 T C 2: 111,972,518 (GRCm39) I76T probably benign Het
Or7g32 T C 9: 19,389,285 (GRCm39) N87S possibly damaging Het
Pcsk9 T A 4: 106,303,967 (GRCm39) I506L probably benign Het
Phf14 T A 6: 11,953,366 (GRCm39) D368E probably damaging Het
Phka1 C A X: 101,580,819 (GRCm39) S964I probably damaging Het
Pikfyve G A 1: 65,286,226 (GRCm39) R1155Q probably damaging Het
Plin2 C T 4: 86,580,315 (GRCm39) V60M probably damaging Het
Ptpn9 A G 9: 56,934,671 (GRCm39) Q145R possibly damaging Het
Sap30 A G 8: 57,940,335 (GRCm39) I89T probably damaging Het
Sec61a2 T C 2: 5,881,276 (GRCm39) probably null Het
Slc34a2 A C 5: 53,221,340 (GRCm39) D262A probably benign Het
Slc6a3 G A 13: 73,705,300 (GRCm39) probably null Het
Slfn4 A T 11: 83,077,400 (GRCm39) T63S probably benign Het
Tbx10 A T 19: 4,048,571 (GRCm39) probably benign Het
Tie1 A T 4: 118,337,420 (GRCm39) N501K probably damaging Het
Tmprss11f A T 5: 86,685,966 (GRCm39) Y134N probably damaging Het
Uevld A T 7: 46,580,778 (GRCm39) D361E possibly damaging Het
Ugt1a5 A C 1: 88,094,537 (GRCm39) D255A probably damaging Het
Vmn2r11 A G 5: 109,201,935 (GRCm39) F190L probably benign Het
Wfs1 G A 5: 37,132,941 (GRCm39) R113C probably damaging Het
Yipf5 T G 18: 40,339,449 (GRCm39) M206L probably benign Het
Zbtb10 A G 3: 9,346,047 (GRCm39) D847G probably benign Het
Zfp786 T A 6: 47,798,258 (GRCm39) K227* probably null 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
IGL02502:Arhgef6 APN X 56,325,623 (GRCm39) missense probably damaging 1.00
IGL02584:Arhgef6 APN X 56,291,738 (GRCm39) unclassified probably benign
IGL03038:Arhgef6 APN X 56,290,966 (GRCm39) missense probably benign 0.00
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 2016-08-02