Incidental Mutation 'IGL02584:Arhgef6'
ID299496
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef6
Ensembl Gene ENSMUSG00000031133
Gene NameRac/Cdc42 guanine nucleotide exchange factor (GEF) 6
Synonymsalpha-PIX, 1600028C08Rik, 1700038J06Rik, 4930592P22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02584
Quality Score
Status
ChromosomeX
Chromosomal Location57231485-57338729 bp(-) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to G at 57246378 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000134851 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033468] [ENSMUST00000114735] [ENSMUST00000176986]
Predicted Effect probably benign
Transcript: ENSMUST00000033468
SMART Domains Protein: ENSMUSP00000033468
Gene: ENSMUSG00000031133

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 benign
Transcript: ENSMUST00000114735
SMART Domains Protein: ENSMUSP00000110383
Gene: ENSMUSG00000031133

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 probably benign
Transcript: ENSMUST00000175900
Predicted Effect probably benign
Transcript: ENSMUST00000176986
SMART Domains Protein: ENSMUSP00000134851
Gene: ENSMUSG00000031133

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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik A T 16: 89,174,856 Y22F unknown Het
Adgrb3 A G 1: 25,504,984 L312P probably damaging Het
Anpep T C 7: 79,825,393 probably benign Het
Catsperg1 T C 7: 29,184,721 D989G probably damaging Het
Ccnj T A 19: 40,844,741 V121E probably benign Het
Cdyl T C 13: 35,683,786 L15P probably benign Het
Cnrip1 T A 11: 17,078,536 M156K probably damaging Het
Cryga T A 1: 65,103,016 S73C probably benign Het
Dennd4a A G 9: 64,851,298 T240A probably damaging Het
Eml6 A G 11: 29,749,387 S1789P probably damaging Het
Esr2 A T 12: 76,145,262 W331R probably damaging Het
Fbxo18 A T 2: 11,759,958 L455H probably benign Het
Gm21698 T A 5: 25,987,393 E65V probably damaging Het
Grm8 G T 6: 27,762,439 F262L probably benign Het
Haus3 A T 5: 34,166,258 L336* probably null Het
Hfm1 A C 5: 106,878,662 probably null Het
Hgfac T C 5: 35,043,961 probably benign Het
Ighv1-22 T C 12: 114,746,322 E101G probably benign Het
Impg2 A G 16: 56,265,011 E1027G probably damaging Het
Lypd5 A T 7: 24,353,568 T217S possibly damaging Het
Myrf A G 19: 10,212,223 probably benign Het
Mzf1 A G 7: 13,052,817 W109R probably damaging Het
Ndufb4 A T 16: 37,649,170 probably benign Het
Ntn1 A G 11: 68,277,530 V367A probably damaging Het
Olfr1029 C T 2: 85,975,875 L211F probably damaging Het
Oprk1 A G 1: 5,598,604 K91R probably damaging Het
Pdlim1 A G 19: 40,243,400 probably null Het
Ppp1r11 G A 17: 36,949,889 R61C probably damaging Het
Racgap1 T C 15: 99,623,634 D547G probably benign Het
Sema4b A G 7: 80,224,988 T709A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Supt5 T C 7: 28,326,167 H218R probably benign Het
Tmem132c T A 5: 127,504,999 I426N probably damaging Het
Tpcn1 T C 5: 120,539,032 N696S probably damaging Het
Ttn T C 2: 76,736,162 N26383S possibly damaging Het
Vax2 A G 6: 83,711,513 T73A probably benign Het
Zfp518a G A 19: 40,914,617 G997R probably 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
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
R1503: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
Posted On2015-04-16