Incidental Mutation 'IGL02172:Arhgef26'
ID282911
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arhgef26
Ensembl Gene ENSMUSG00000036885
Gene NameRho guanine nucleotide exchange factor (GEF) 26
Synonyms4631416L12Rik, 8430436L14Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.164) question?
Stock #IGL02172
Quality Score
Status
Chromosome3
Chromosomal Location62338344-62462221 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62459676 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 810 (V810A)
Ref Sequence ENSEMBL: ENSMUSP00000078281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079300]
Predicted Effect probably benign
Transcript: ENSMUST00000079300
AA Change: V810A

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: V810A

DomainStartEndE-ValueType
low complexity region 133 144 N/A INTRINSIC
low complexity region 392 403 N/A INTRINSIC
RhoGEF 441 620 1e-45 SMART
PH 654 782 4.04e-9 SMART
SH3 790 847 3.82e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000161057
SMART Domains Protein: ENSMUSP00000124392
Gene: ENSMUSG00000036885

DomainStartEndE-ValueType
Pfam:RhoGEF 2 87 2.3e-19 PFAM
PH 121 249 4.04e-9 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rho-guanine nucleotide exchange factor (Rho-GEF) family. These proteins regulate Rho GTPases by catalyzing the exchange of GDP for GTP. The encoded protein specifically activates RhoG and plays a role in the promotion of macropinocytosis. Underexpression of the encoded protein may be a predictive marker of chemoresistant disease. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit defective activation of RhoG and reduced membrane protrusion after ICAM-1 clustering. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik T C 3: 37,004,873 V3236A probably damaging Het
Abca12 A G 1: 71,302,658 V1048A probably benign Het
Adgre1 C T 17: 57,478,879 T875I probably damaging Het
Atf1 T A 15: 100,254,441 V105E probably damaging Het
Bbs9 C T 9: 22,579,476 T300I possibly damaging Het
Brd7 G T 8: 88,351,824 H226Q probably benign Het
Cadps T C 14: 12,705,681 K238R probably damaging Het
Chordc1 A G 9: 18,302,092 T80A possibly damaging Het
Clca4a A T 3: 144,970,394 C126* probably null Het
Col24a1 A T 3: 145,314,962 T365S probably benign Het
Crb1 C T 1: 139,237,227 G1053D probably damaging Het
Creb3l4 A T 3: 90,242,775 S20T probably benign Het
Cyp2c67 C T 19: 39,649,002 C10Y possibly damaging Het
Dhdh A T 7: 45,475,617 C294S probably damaging Het
Fam135a A G 1: 24,024,780 probably null Het
Fsd1 G T 17: 55,990,244 probably benign Het
Gatad2b A G 3: 90,355,671 probably benign Het
Glb1l2 T C 9: 26,769,086 D232G probably damaging Het
Gm10553 T C 1: 85,100,294 L44P probably damaging Het
Hecw1 T C 13: 14,264,149 Y883C probably damaging Het
Helq A G 5: 100,790,147 F478L probably damaging Het
Ift172 T C 5: 31,281,337 probably benign Het
Krtcap3 A C 5: 31,252,053 T55P probably damaging Het
Megf6 A G 4: 154,270,692 D1488G probably damaging Het
Mrpl1 T C 5: 96,231,715 V203A probably damaging Het
Myh2 A T 11: 67,189,052 D1084V possibly damaging Het
Necap2 T A 4: 141,078,310 probably benign Het
Nemp1 A G 10: 127,692,999 S191G probably benign Het
Nrip1 T C 16: 76,291,492 D1059G probably damaging Het
Ntrk3 A T 7: 78,460,272 probably benign Het
Olfr558 G A 7: 102,709,844 R195H probably benign Het
Olfr583 A G 7: 103,051,375 I26V probably benign Het
Prkdc T G 16: 15,809,759 V3427G probably benign Het
Ptprn2 A T 12: 116,873,697 probably benign Het
Ptprt A T 2: 161,555,502 L1095H probably damaging Het
Ren1 T A 1: 133,359,033 L300Q possibly damaging Het
Rgl3 A G 9: 21,976,838 I460T probably damaging Het
Ror2 C T 13: 53,110,728 S764N probably damaging Het
Runx1t1 A C 4: 13,859,924 Q265P probably benign Het
Sh3d21 A G 4: 126,152,360 S282P probably benign Het
Slc39a13 T C 2: 91,063,160 E318G possibly damaging Het
Srd5a3 T C 5: 76,147,709 I82T probably benign Het
Stard7 C A 2: 127,290,872 T220N probably damaging Het
Tbx4 G A 11: 85,914,563 G493R possibly damaging Het
Trerf1 A T 17: 47,317,817 noncoding transcript Het
Trim59 T A 3: 69,037,477 I177L probably benign Het
Trpm7 T C 2: 126,795,328 M1789V possibly damaging Het
Tsc22d1 T C 14: 76,417,692 V455A probably benign Het
Vmn2r118 C A 17: 55,624,598 M25I probably benign Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Wdr90 G A 17: 25,850,434 T1233I probably benign Het
Zcchc2 G A 1: 106,000,934 D308N probably benign Het
Zfp57 G T 17: 37,009,589 V112L possibly damaging Het
Zfp874b A T 13: 67,474,016 Y388N probably damaging Het
Other mutations in Arhgef26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Arhgef26 APN 3 62340383 missense probably benign
IGL01060:Arhgef26 APN 3 62340121 missense probably benign 0.44
IGL01942:Arhgef26 APN 3 62340094 missense probably benign 0.03
IGL02085:Arhgef26 APN 3 62459724 intron probably benign
IGL03017:Arhgef26 APN 3 62448281 missense possibly damaging 0.46
IGL03101:Arhgef26 APN 3 62419661 missense possibly damaging 0.95
IGL03296:Arhgef26 APN 3 62423505 missense probably damaging 1.00
IGL03401:Arhgef26 APN 3 62423532 missense possibly damaging 0.95
R0138:Arhgef26 UTSW 3 62448259 missense probably benign 0.06
R0140:Arhgef26 UTSW 3 62448245 missense probably benign 0.02
R0152:Arhgef26 UTSW 3 62423544 missense probably damaging 0.99
R0157:Arhgef26 UTSW 3 62380971 missense probably damaging 1.00
R0308:Arhgef26 UTSW 3 62340399 missense probably benign 0.01
R0317:Arhgef26 UTSW 3 62423544 missense probably damaging 0.99
R0529:Arhgef26 UTSW 3 62339725 missense probably benign
R0825:Arhgef26 UTSW 3 62426593 missense probably damaging 0.97
R1331:Arhgef26 UTSW 3 62340028 missense probably benign 0.00
R1333:Arhgef26 UTSW 3 62340323 missense probably benign 0.04
R1351:Arhgef26 UTSW 3 62380841 missense probably damaging 1.00
R1740:Arhgef26 UTSW 3 62423583 missense probably damaging 1.00
R2121:Arhgef26 UTSW 3 62340283 missense probably damaging 0.96
R2404:Arhgef26 UTSW 3 62428915 missense possibly damaging 0.90
R2437:Arhgef26 UTSW 3 62432581 missense probably damaging 0.96
R2939:Arhgef26 UTSW 3 62380910 missense possibly damaging 0.72
R3084:Arhgef26 UTSW 3 62377616 missense probably benign 0.19
R3712:Arhgef26 UTSW 3 62423629 missense probably damaging 1.00
R4005:Arhgef26 UTSW 3 62340395 missense probably benign
R4225:Arhgef26 UTSW 3 62380922 missense probably benign 0.00
R4635:Arhgef26 UTSW 3 62340440 missense probably damaging 1.00
R4961:Arhgef26 UTSW 3 62459625 missense probably damaging 1.00
R4989:Arhgef26 UTSW 3 62340385 missense possibly damaging 0.94
R5249:Arhgef26 UTSW 3 62340560 missense probably damaging 1.00
R5284:Arhgef26 UTSW 3 62419631 missense probably damaging 0.99
R5661:Arhgef26 UTSW 3 62377654 splice site probably benign
R5970:Arhgef26 UTSW 3 62340047 missense probably benign
R6022:Arhgef26 UTSW 3 62428939 missense probably damaging 1.00
R6193:Arhgef26 UTSW 3 62339792 missense possibly damaging 0.49
R6247:Arhgef26 UTSW 3 62380960 missense probably damaging 1.00
R6434:Arhgef26 UTSW 3 62428914 missense probably damaging 0.99
R6827:Arhgef26 UTSW 3 62423498 splice site probably null
Posted On2015-04-16