Incidental Mutation 'R7111:Arhgef26'
ID 551499
Institutional Source Beutler Lab
Gene Symbol Arhgef26
Ensembl Gene ENSMUSG00000036885
Gene Name Rho guanine nucleotide exchange factor 26
Synonyms 8430436L14Rik, 4631416L12Rik
MMRRC Submission 045203-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R7111 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 62245765-62369642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 62252689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 414 (S414T)
Ref Sequence ENSEMBL: ENSMUSP00000078281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079300]
AlphaFold D3YYY8
Predicted Effect possibly damaging
Transcript: ENSMUST00000079300
AA Change: S414T

PolyPhen 2 Score 0.902 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: S414T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (54/54)
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
Ablim1 T G 19: 57,062,309 (GRCm39) N384T probably benign Het
Agap3 A G 5: 24,706,396 (GRCm39) Y843C probably damaging Het
Aldh9a1 T A 1: 167,182,021 (GRCm39) V118E probably benign Het
Armc9 T C 1: 86,087,717 (GRCm39) Y18H probably damaging Het
Bod1l A G 5: 41,970,463 (GRCm39) probably null Het
Casp1 A T 9: 5,299,816 (GRCm39) E96D probably benign Het
Ccdc171 A G 4: 83,611,998 (GRCm39) I898V probably benign Het
Cd79b T C 11: 106,205,365 (GRCm39) I42M possibly damaging Het
Cdca7 G A 2: 72,315,575 (GRCm39) R346H probably damaging Het
Cdh20 T C 1: 110,065,638 (GRCm39) S176P Het
Cdh23 T A 10: 60,222,823 (GRCm39) D1200V probably damaging Het
Cdkn1c T C 7: 143,014,326 (GRCm39) D40G possibly damaging Het
Ckap5 G A 2: 91,437,917 (GRCm39) R1666H probably damaging Het
Cxcl1 A G 5: 91,039,182 (GRCm39) T5A unknown Het
Dnah2 A C 11: 69,337,579 (GRCm39) probably null Het
Dnai3 T C 3: 145,803,028 (GRCm39) I54M probably damaging Het
Ephb3 A T 16: 21,037,577 (GRCm39) K500* probably null Het
Fam13c T A 10: 70,390,336 (GRCm39) H533Q probably benign Het
Fat4 T A 3: 39,064,682 (GRCm39) D4879E probably damaging Het
Grk6 G T 13: 55,606,733 (GRCm39) W511L probably damaging Het
Hivep3 G C 4: 119,952,431 (GRCm39) S249T possibly damaging Het
Iqch T A 9: 63,419,599 (GRCm39) Y496F possibly damaging Het
Itga2 T C 13: 115,037,066 (GRCm39) I21V unknown Het
Itpr2 A T 6: 146,226,554 (GRCm39) C1397S probably damaging Het
Krt86 A T 15: 101,374,498 (GRCm39) Y297F possibly damaging Het
Limch1 G T 5: 67,182,519 (GRCm39) probably null Het
Mfsd6 G T 1: 52,748,917 (GRCm39) probably null Het
Mx1 A G 16: 97,256,376 (GRCm39) V181A probably damaging Het
Nme8 G A 13: 19,859,817 (GRCm39) R268W probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or10p1 T A 10: 129,443,829 (GRCm39) I174F possibly damaging Het
Or5d36 G A 2: 87,901,000 (GRCm39) T242I probably damaging Het
Pappa2 T A 1: 158,784,096 (GRCm39) I305F probably benign Het
Pdlim3 A G 8: 46,370,539 (GRCm39) K232E probably damaging Het
Rcn1 T C 2: 105,219,359 (GRCm39) E278G probably damaging Het
Ros1 T C 10: 52,057,906 (GRCm39) D47G probably benign Het
Sema4c G A 1: 36,592,160 (GRCm39) T229M possibly damaging Het
Serpina3j T A 12: 104,283,792 (GRCm39) W297R probably damaging Het
Serpinb11 A G 1: 107,304,614 (GRCm39) E193G probably benign Het
Shank2 A G 7: 143,965,289 (GRCm39) I966V probably benign Het
Siglece T C 7: 43,309,327 (GRCm39) D77G probably damaging Het
Sqstm1 G T 11: 50,093,418 (GRCm39) Q327K probably benign Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Styxl2 T C 1: 165,954,723 (GRCm39) E9G possibly damaging Het
Svep1 A T 4: 58,118,207 (GRCm39) D838E possibly damaging Het
Tacc2 G A 7: 130,330,618 (GRCm39) A191T probably benign Het
Tnfrsf18 T A 4: 156,113,168 (GRCm39) W285R probably damaging Het
Tspan9 T C 6: 127,942,726 (GRCm39) D167G probably null Het
Uaca C T 9: 60,779,120 (GRCm39) T1169I probably benign Het
Umod G T 7: 119,076,369 (GRCm39) Y132* probably null Het
Vmn2r31 A G 7: 7,399,480 (GRCm39) F159S probably damaging Het
Vmn2r82 C T 10: 79,214,605 (GRCm39) T196I probably benign Het
Wrap53 A T 11: 69,453,305 (GRCm39) W379R probably damaging Het
Zfp866 A T 8: 70,219,221 (GRCm39) V133D probably benign Het
Other mutations in Arhgef26
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00160:Arhgef26 APN 3 62,247,804 (GRCm39) missense probably benign
IGL01060:Arhgef26 APN 3 62,247,542 (GRCm39) missense probably benign 0.44
IGL01942:Arhgef26 APN 3 62,247,515 (GRCm39) missense probably benign 0.03
IGL02085:Arhgef26 APN 3 62,367,145 (GRCm39) intron probably benign
IGL02172:Arhgef26 APN 3 62,367,097 (GRCm39) missense probably benign 0.03
IGL03017:Arhgef26 APN 3 62,355,702 (GRCm39) missense possibly damaging 0.46
IGL03101:Arhgef26 APN 3 62,327,082 (GRCm39) missense possibly damaging 0.95
IGL03296:Arhgef26 APN 3 62,330,926 (GRCm39) missense probably damaging 1.00
IGL03401:Arhgef26 APN 3 62,330,953 (GRCm39) missense possibly damaging 0.95
R0138:Arhgef26 UTSW 3 62,355,680 (GRCm39) missense probably benign 0.06
R0140:Arhgef26 UTSW 3 62,355,666 (GRCm39) missense probably benign 0.02
R0152:Arhgef26 UTSW 3 62,330,965 (GRCm39) missense probably damaging 0.99
R0157:Arhgef26 UTSW 3 62,288,392 (GRCm39) missense probably damaging 1.00
R0308:Arhgef26 UTSW 3 62,247,820 (GRCm39) missense probably benign 0.01
R0317:Arhgef26 UTSW 3 62,330,965 (GRCm39) missense probably damaging 0.99
R0529:Arhgef26 UTSW 3 62,247,146 (GRCm39) missense probably benign
R0825:Arhgef26 UTSW 3 62,334,014 (GRCm39) missense probably damaging 0.97
R1331:Arhgef26 UTSW 3 62,247,449 (GRCm39) missense probably benign 0.00
R1333:Arhgef26 UTSW 3 62,247,744 (GRCm39) missense probably benign 0.04
R1351:Arhgef26 UTSW 3 62,288,262 (GRCm39) missense probably damaging 1.00
R1740:Arhgef26 UTSW 3 62,331,004 (GRCm39) missense probably damaging 1.00
R2121:Arhgef26 UTSW 3 62,247,704 (GRCm39) missense probably damaging 0.96
R2404:Arhgef26 UTSW 3 62,336,336 (GRCm39) missense possibly damaging 0.90
R2437:Arhgef26 UTSW 3 62,340,002 (GRCm39) missense probably damaging 0.96
R2939:Arhgef26 UTSW 3 62,288,331 (GRCm39) missense possibly damaging 0.72
R3084:Arhgef26 UTSW 3 62,285,037 (GRCm39) missense probably benign 0.19
R3712:Arhgef26 UTSW 3 62,331,050 (GRCm39) missense probably damaging 1.00
R4005:Arhgef26 UTSW 3 62,247,816 (GRCm39) missense probably benign
R4225:Arhgef26 UTSW 3 62,288,343 (GRCm39) missense probably benign 0.00
R4635:Arhgef26 UTSW 3 62,247,861 (GRCm39) missense probably damaging 1.00
R4961:Arhgef26 UTSW 3 62,367,046 (GRCm39) missense probably damaging 1.00
R4989:Arhgef26 UTSW 3 62,247,806 (GRCm39) missense possibly damaging 0.94
R5249:Arhgef26 UTSW 3 62,247,981 (GRCm39) missense probably damaging 1.00
R5284:Arhgef26 UTSW 3 62,327,052 (GRCm39) missense probably damaging 0.99
R5661:Arhgef26 UTSW 3 62,285,075 (GRCm39) splice site probably benign
R5970:Arhgef26 UTSW 3 62,247,468 (GRCm39) missense probably benign
R6022:Arhgef26 UTSW 3 62,336,360 (GRCm39) missense probably damaging 1.00
R6193:Arhgef26 UTSW 3 62,247,213 (GRCm39) missense possibly damaging 0.49
R6247:Arhgef26 UTSW 3 62,288,381 (GRCm39) missense probably damaging 1.00
R6434:Arhgef26 UTSW 3 62,336,335 (GRCm39) missense probably damaging 0.99
R6827:Arhgef26 UTSW 3 62,330,919 (GRCm39) splice site probably null
R7128:Arhgef26 UTSW 3 62,326,971 (GRCm39) missense possibly damaging 0.94
R7360:Arhgef26 UTSW 3 62,355,626 (GRCm39) missense possibly damaging 0.63
R7456:Arhgef26 UTSW 3 62,247,476 (GRCm39) missense probably benign 0.00
R8039:Arhgef26 UTSW 3 62,247,351 (GRCm39) missense probably benign 0.32
R8120:Arhgef26 UTSW 3 62,248,796 (GRCm39) missense probably damaging 1.00
R8511:Arhgef26 UTSW 3 62,336,350 (GRCm39) missense probably damaging 0.98
R8887:Arhgef26 UTSW 3 62,247,401 (GRCm39) missense probably benign 0.04
R8979:Arhgef26 UTSW 3 62,246,969 (GRCm39) missense possibly damaging 0.78
R8993:Arhgef26 UTSW 3 62,355,525 (GRCm39) missense probably benign 0.43
R9213:Arhgef26 UTSW 3 62,340,000 (GRCm39) missense probably benign 0.03
R9269:Arhgef26 UTSW 3 62,247,920 (GRCm39) missense probably damaging 0.98
R9712:Arhgef26 UTSW 3 62,331,034 (GRCm39) missense probably damaging 1.00
R9776:Arhgef26 UTSW 3 62,246,803 (GRCm39) start gained probably benign
Z1177:Arhgef26 UTSW 3 62,247,351 (GRCm39) missense probably benign 0.32
Predicted Primers PCR Primer
(F):5'- CATAGCTATTAGGGGCAATTAGTG -3'
(R):5'- AGCCTGCTTTTCCTGATCAG -3'

Sequencing Primer
(F):5'- GGCAATTAGTGACCTATCTGACTTGC -3'
(R):5'- TGATCAGAACTGTCAAGCTCCGTG -3'
Posted On 2019-05-15