Incidental Mutation 'R1503:Arhgef6'
ID 169502
Institutional Source Beutler Lab
Gene Symbol Arhgef6
Ensembl Gene ENSMUSG00000031133
Gene Name Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
Synonyms alpha-PIX, 1600028C08Rik, 1700038J06Rik, 4930592P22Rik
MMRRC Submission 039553-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1503 (G1)
Quality Score 222
Status Not validated
Chromosome X
Chromosomal Location 57231485-57338729 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 57338562 bp (GRCm38)
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

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: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.0%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atf7ip G T 6: 136,606,867 V1299L probably damaging Het
Atp12a A T 14: 56,373,424 N342Y probably damaging Het
Atp8b5 G A 4: 43,344,430 G439D probably damaging Het
Bpifb2 G A 2: 153,889,510 D269N possibly damaging Het
Btd T G 14: 31,667,655 C444W probably damaging Het
Cacna1a A G 8: 84,601,946 D1624G probably benign Het
Carmil3 A C 14: 55,498,280 N563T probably damaging Het
Cars T C 7: 143,568,989 R538G probably benign Het
Catsperd A G 17: 56,654,525 K416E possibly damaging Het
Cc2d2a A T 5: 43,695,239 Y386F probably damaging Het
Ccpg1 A G 9: 72,999,478 N66S probably benign Het
Cd48 T A 1: 171,695,847 L86H probably damaging Het
Cdan1 A T 2: 120,729,575 H369Q probably damaging Het
Chil4 T C 3: 106,206,034 D189G probably benign Het
Cit T A 5: 115,873,900 Y189N possibly damaging Het
Cntn3 G A 6: 102,464,565 Q7* probably null Het
Csn1s2a A T 5: 87,775,799 I5F possibly damaging Het
Ctnnd1 C T 2: 84,605,179 probably null Het
Dmxl2 A T 9: 54,446,988 Y391* probably null Het
Dnah12 T C 14: 26,773,692 S1426P probably damaging Het
Dnhd1 T G 7: 105,693,660 S1404A possibly damaging Het
Drosha T A 15: 12,848,073 C484S probably benign Het
Dsg4 A T 18: 20,449,679 I125F probably damaging Het
Egfr T A 11: 16,869,301 M277K possibly damaging Het
Eml5 G T 12: 98,831,174 L1059I probably damaging Het
Erbb4 G T 1: 68,346,546 H295N probably benign Het
Etl4 T G 2: 20,743,874 V139G possibly damaging Het
Fam160a1 T A 3: 85,672,477 Y807F possibly damaging Het
Frem3 A T 8: 80,687,018 E1969D probably damaging Het
Gdf3 T A 6: 122,606,337 D357V probably damaging Het
Gimap8 T A 6: 48,647,529 probably null Het
Gml2 C A 15: 74,821,352 S68* probably null Het
Gphn A G 12: 78,504,629 I248V possibly damaging Het
Greb1 A T 12: 16,724,819 Y192* probably null Het
Hmbs A C 9: 44,337,432 L215W probably benign Het
Iglon5 T A 7: 43,479,025 T123S probably benign Het
Ints2 C T 11: 86,226,781 R705H probably damaging Het
Ints8 A T 4: 11,245,842 L212Q probably damaging Het
Itgad A G 7: 128,198,121 Y846C probably benign Het
Kcnj1 A G 9: 32,396,492 T51A probably damaging Het
Kif1bp A G 10: 62,559,408 V485A probably damaging Het
Kif9 A T 9: 110,510,438 K449N possibly damaging Het
Klk11 G A 7: 43,778,909 W241* probably null Het
Krt32 T C 11: 100,084,110 probably null Het
Loxl1 A G 9: 58,293,640 F513S probably damaging Het
Mapk8ip3 A T 17: 24,904,923 S571T probably damaging Het
Mcam C T 9: 44,141,291 R606C probably damaging Het
Mtss1 T C 15: 58,951,672 N282S probably damaging Het
Myh13 T A 11: 67,353,674 D1012E probably benign Het
Myo16 A G 8: 10,502,817 T952A probably benign Het
Neb T C 2: 52,298,620 D874G probably damaging Het
Nek11 A G 9: 105,163,204 Y553H probably damaging Het
Nr2c2 T A 6: 92,105,331 V9D probably benign Het
Nxf1 T A 19: 8,762,436 F51L probably benign Het
Olfr1260 T C 2: 89,978,528 V250A probably damaging Het
Olfr1347 T C 7: 6,488,179 I232V probably damaging Het
Olfr1350 A G 7: 6,570,471 N160S probably damaging Het
Olfr170 A G 16: 19,606,312 S119P probably benign Het
Olfr344 A T 2: 36,568,873 I92F probably damaging Het
Olfr397 T G 11: 73,964,568 probably null Het
Olfr750 A G 14: 51,070,734 S220P probably damaging Het
Pcdhb8 A T 18: 37,356,519 N76Y probably damaging Het
Pdzrn4 T A 15: 92,399,804 F217I probably damaging Het
Ppp1r16a T A 15: 76,694,399 H434Q probably benign Het
Prpf19 T A 19: 10,901,022 F291I possibly damaging Het
R3hdm2 G T 10: 127,471,826 E319* probably null Het
Sel1l3 A G 5: 53,137,929 Y777H probably damaging Het
Serpinb5 G A 1: 106,870,289 A3T possibly damaging Het
Skp2 C A 15: 9,127,911 V88F probably damaging Het
Slc25a16 T C 10: 62,928,376 Y71H probably damaging Het
Slc6a6 T A 6: 91,740,992 I304N probably damaging Het
Sned1 G A 1: 93,281,654 V830M possibly damaging Het
Sox17 C A 1: 4,491,928 G222C probably damaging Het
Trmu T A 15: 85,895,019 V289E possibly damaging Het
Vdac2 A G 14: 21,837,877 E96G probably damaging Het
Wdhd1 A T 14: 47,247,400 D885E probably benign Het
Zfp646 A G 7: 127,880,136 N495S probably damaging Het
Zfp663 T C 2: 165,352,653 T549A probably damaging Het
Zfp935 G A 13: 62,455,137 A83V possibly damaging Het
Other mutations in Arhgef6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00577:Arhgef6 APN X 57245632 critical splice acceptor site probably null
IGL02049:Arhgef6 APN X 57275911 missense probably damaging 0.99
IGL02502:Arhgef6 APN X 57280263 missense probably damaging 1.00
IGL02584:Arhgef6 APN X 57246378 unclassified probably benign
IGL03038:Arhgef6 APN X 57245606 missense probably benign 0.00
IGL03294:Arhgef6 APN X 57336978 missense possibly damaging 0.52
R1382:Arhgef6 UTSW X 57338562 missense probably benign 0.01
R1385:Arhgef6 UTSW X 57338562 missense probably benign 0.01
R1388:Arhgef6 UTSW X 57338562 missense probably benign 0.01
R1432:Arhgef6 UTSW X 57338562 missense probably benign 0.01
R1500:Arhgef6 UTSW X 57338562 missense probably benign 0.01
R1556:Arhgef6 UTSW X 57338562 missense probably benign 0.01
R1749:Arhgef6 UTSW X 57338562 missense probably benign 0.01
R1764:Arhgef6 UTSW X 57338562 missense probably benign 0.01
R1767:Arhgef6 UTSW X 57338562 missense probably benign 0.01
R2010:Arhgef6 UTSW X 57299505 missense possibly damaging 0.95
R4928:Arhgef6 UTSW X 57234878 missense probably damaging 1.00
Z1177:Arhgef6 UTSW X 57304624 start gained probably benign
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2014-04-13