Incidental Mutation 'R1385:Arhgef6'
ID 163250
Institutional Source Beutler Lab
Gene Symbol Arhgef6
Ensembl Gene ENSMUSG00000031133
Gene Name Rac/Cdc42 guanine nucleotide exchange factor 6
Synonyms 1600028C08Rik, 4930592P22Rik, alpha-PIX, 1700038J06Rik
MMRRC Submission 039447-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1385 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 56276845-56384089 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56383922 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 5 (M5V)
Ref Sequence ENSEMBL: ENSMUSP00000033468 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033468]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000033468
AA Change: M5V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000033468
Gene: ENSMUSG00000031133
AA Change: M5V

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldh7a1 A G 18: 56,675,357 (GRCm39) S269P probably damaging Het
Arf3 A G 15: 98,640,494 (GRCm39) V43A probably damaging Het
Arhgap1 C A 2: 91,501,176 (GRCm39) N457K probably damaging Het
Bltp3b A G 10: 89,626,503 (GRCm39) N399S possibly damaging Het
Ccdc39 C T 3: 33,875,561 (GRCm39) E544K probably damaging Het
Cfap44 A G 16: 44,291,138 (GRCm39) E1546G probably damaging Het
Cntn6 A G 6: 104,838,861 (GRCm39) I900V probably benign Het
Edem1 A G 6: 108,823,645 (GRCm39) N347S probably damaging Het
Erich6 A G 3: 58,544,251 (GRCm39) I112T probably benign Het
Gemin2 A G 12: 59,064,932 (GRCm39) probably null Het
Hunk T A 16: 90,269,374 (GRCm39) V306E possibly damaging Het
Hydin A G 8: 111,249,836 (GRCm39) I2260V probably benign Het
Insyn1 AGAGGAGGAGGAGGAGG AGAGGAGGAGGAGG 9: 58,406,715 (GRCm39) probably benign Het
Itgbl1 A G 14: 123,898,923 (GRCm39) probably null Het
Iws1 T A 18: 32,223,483 (GRCm39) N630K probably benign Het
Lama2 C A 10: 27,100,039 (GRCm39) R822L probably benign Het
Lrrc56 A G 7: 140,785,438 (GRCm39) D130G probably damaging Het
Mageb11 T A X: 89,935,874 (GRCm39) C43S probably benign Het
Malrd1 A T 2: 16,047,039 (GRCm39) I1722F unknown Het
Mark4 G T 7: 19,159,952 (GRCm39) probably null Het
Muc5b T C 7: 141,415,874 (GRCm39) V2940A probably benign Het
Mxd1 T A 6: 86,628,549 (GRCm39) Q62L probably damaging Het
Ncapd2 A T 6: 125,150,078 (GRCm39) S917T probably benign Het
Nr2c2 T G 6: 92,131,451 (GRCm39) F171C probably damaging Het
Nup155 A T 15: 8,187,244 (GRCm39) H1391L probably damaging Het
Nynrin A T 14: 56,102,356 (GRCm39) Q675L probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Ocstamp T C 2: 165,237,959 (GRCm39) D435G probably benign Het
Pdzd2 T C 15: 12,411,108 (GRCm39) T553A probably benign Het
Pllp A G 8: 95,405,996 (GRCm39) Y96H probably benign Het
Polg2 A G 11: 106,659,149 (GRCm39) S455P probably damaging Het
Ppp1r9b A G 11: 94,883,037 (GRCm39) T222A probably benign Het
Prkcd G A 14: 30,329,362 (GRCm39) T26I probably damaging Het
Prkcq A G 2: 11,261,097 (GRCm39) H383R probably damaging Het
Prune2 A G 19: 17,102,312 (GRCm39) I2490M possibly damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Scn9a G A 2: 66,393,886 (GRCm39) P229L probably damaging Het
Serpinb5 A G 1: 106,803,853 (GRCm39) T180A probably damaging Het
Slc5a2 G C 7: 127,869,803 (GRCm39) R412P probably damaging Het
Sphk2 A G 7: 45,361,715 (GRCm39) I82T probably damaging Het
Tedc2 T A 17: 24,435,291 (GRCm39) E366V probably damaging Het
Tedc2 C A 17: 24,435,292 (GRCm39) E366* probably null Het
Treml1 T G 17: 48,667,226 (GRCm39) V37G probably damaging Het
Trim33 A G 3: 103,218,266 (GRCm39) K272E possibly damaging Het
Trpv6 T C 6: 41,598,063 (GRCm39) D748G probably benign Het
Ubr4 A G 4: 139,129,923 (GRCm39) H681R probably benign Het
Vmn2r82 A T 10: 79,232,325 (GRCm39) R775* probably null Het
Xpo1 T C 11: 23,211,863 (GRCm39) L8S probably damaging Het
Zfand4 G A 6: 116,250,599 (GRCm39) G10R probably damaging Het
Zfp119a T A 17: 56,172,826 (GRCm39) H339L probably damaging Het
Zfp407 C T 18: 84,577,898 (GRCm39) A1072T 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
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
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
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
Predicted Primers PCR Primer
(F):5'- GCGAGGACTTCAAGAACTCCTCTG -3'
(R):5'- CACGAGCACTTGCTGACTTTTCTG -3'

Sequencing Primer
(F):5'- CTGGATCACAGACAGTCTTTTTG -3'
(R):5'- AGAACCAGTGATGTTCTCTCAGG -3'
Posted On 2014-03-17