Incidental Mutation 'IGL03038:Arhgef6'
ID408781
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 #IGL03038
Quality Score
Status
ChromosomeX
Chromosomal Location57231485-57338729 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 57245606 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 262 (V262I)
Ref Sequence ENSEMBL: ENSMUSP00000110383 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000033468] [ENSMUST00000114735] [ENSMUST00000176986]
Predicted Effect probably benign
Transcript: ENSMUST00000033468
AA Change: V525I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000033468
Gene: ENSMUSG00000031133
AA Change: V525I

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
AA Change: V262I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000110383
Gene: ENSMUSG00000031133
AA Change: V262I

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: ENSMUST00000151768
Predicted Effect unknown
Transcript: ENSMUST00000175900
AA Change: V105I
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadsb T C 7: 131,428,456 Y111H probably damaging Het
Arsk C A 13: 76,065,513 probably benign Het
Ces1b T C 8: 93,067,052 E303G probably benign Het
Chst9 T C 18: 15,495,303 Q55R probably benign Het
Cntnap3 A T 13: 64,741,025 D1153E possibly damaging Het
D130043K22Rik A G 13: 24,879,619 E681G probably damaging Het
Fhad1 T C 4: 142,002,494 E66G probably benign Het
Flii T C 11: 60,724,832 T69A probably benign Het
Foxl1 A C 8: 121,128,419 E153A probably damaging Het
Gstm3 T C 3: 107,966,169 D162G possibly damaging Het
Gtpbp3 G A 8: 71,489,303 V96I possibly damaging Het
Insig2 G A 1: 121,319,674 T56I probably damaging Het
Kif13a A G 13: 46,772,838 L264P probably damaging Het
Lama3 T G 18: 12,419,250 C420G probably damaging Het
Lrp2 C T 2: 69,475,464 G2918S probably damaging Het
Lrrc8b T C 5: 105,481,492 L568P probably damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Malrd1 G A 2: 16,127,967 D1900N unknown Het
Mastl C A 2: 23,140,615 probably benign Het
Med24 T G 11: 98,716,184 T276P possibly damaging Het
Naip1 A C 13: 100,437,333 Y239* probably null Het
Nhsl2 A G X: 102,078,885 K765E probably damaging Het
Npy A G 6: 49,823,608 N4S probably benign Het
Nsun2 A G 13: 69,619,584 D188G probably damaging Het
Olfr794 A G 10: 129,570,921 T89A probably benign Het
Pde1a C A 2: 79,887,946 probably benign Het
Pik3cb G A 9: 99,065,597 A509V probably damaging Het
Pou2f2 C T 7: 25,097,152 S315N probably damaging Het
Prdm2 A C 4: 143,134,001 S906R probably damaging Het
Prkaca C A 8: 83,994,951 Q300K probably benign Het
Prox2 T C 12: 85,095,264 D55G possibly damaging Het
Ryr3 T A 2: 112,668,120 T3612S possibly damaging Het
S1pr1 T A 3: 115,712,694 I84L possibly damaging Het
Slc47a1 C T 11: 61,353,092 V384M probably benign Het
Slc6a20b T C 9: 123,597,329 N497S possibly damaging Het
Spen C A 4: 141,538,239 R3L unknown Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Ttll6 T C 11: 96,151,960 F444S probably damaging Het
Vwce T A 19: 10,646,671 Y309N possibly damaging Het
Vwf T C 6: 125,604,157 L586P possibly damaging Het
Wdr35 T C 12: 8,974,185 probably benign 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
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 On2016-08-02