Incidental Mutation 'R4005:Arhgef26'
ID 311420
Institutional Source Beutler Lab
Gene Symbol Arhgef26
Ensembl Gene ENSMUSG00000036885
Gene Name Rho guanine nucleotide exchange factor 26
Synonyms 8430436L14Rik, 4631416L12Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.230) question?
Stock # R4005 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 62245765-62369642 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 62247816 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 300 (M300T)
Ref Sequence ENSEMBL: ENSMUSP00000078281 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079300]
AlphaFold D3YYY8
Predicted Effect probably benign
Transcript: ENSMUST00000079300
AA Change: M300T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078281
Gene: ENSMUSG00000036885
AA Change: M300T

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 noncoding transcript
Transcript: ENSMUST00000159746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161493
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163008
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192267
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.8%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adar T A 3: 89,657,094 (GRCm39) L488Q probably damaging Het
Ajm1 T C 2: 25,468,868 (GRCm39) T348A probably benign Het
Asl C T 5: 130,047,673 (GRCm39) probably null Het
Capn10 T A 1: 92,868,313 (GRCm39) L260Q probably damaging Het
Cdhr3 T C 12: 33,130,355 (GRCm39) D160G probably damaging Het
Cep290 A G 10: 100,374,870 (GRCm39) E1372G probably damaging Het
Cpeb2 A G 5: 43,395,755 (GRCm39) probably benign Het
Cpeb4 G A 11: 31,875,390 (GRCm39) A530T probably damaging Het
Cstl1 A T 2: 148,597,190 (GRCm39) I64F probably damaging Het
Ddx28 C G 8: 106,737,560 (GRCm39) R166P possibly damaging Het
Dgkd T C 1: 87,863,145 (GRCm39) I64T possibly damaging Het
Dmxl2 T C 9: 54,353,674 (GRCm39) I765V probably benign Het
Edem3 T C 1: 151,635,506 (GRCm39) M60T probably damaging Het
Farp1 C T 14: 121,513,809 (GRCm39) R844W probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Hmcn1 C G 1: 150,598,204 (GRCm39) L1699F possibly damaging Het
Igsf10 A T 3: 59,235,981 (GRCm39) L1400H probably benign Het
Ikzf3 C T 11: 98,379,843 (GRCm39) E142K probably damaging Het
Ilkap T A 1: 91,312,985 (GRCm39) N170I probably benign Het
Kctd3 T G 1: 188,734,124 (GRCm39) I39L possibly damaging Het
Lrit3 C A 3: 129,585,021 (GRCm39) V246L probably benign Het
Magi1 A G 6: 93,678,299 (GRCm39) I619T probably damaging Het
Map1b G T 13: 99,566,415 (GRCm39) P2102H unknown Het
Mcm10 G T 2: 5,005,814 (GRCm39) S440R probably damaging Het
Mtss2 CG CGG 8: 111,465,673 (GRCm39) probably null Het
Nlrp9a A G 7: 26,257,975 (GRCm39) N531S probably benign Het
Nrcam T A 12: 44,579,429 (GRCm39) D31E probably benign Het
Obscn T C 11: 59,022,472 (GRCm39) R758G possibly damaging Het
Ogn A C 13: 49,762,775 (GRCm39) E39A possibly damaging Het
Or4g17 G A 2: 111,210,088 (GRCm39) V248I probably benign Het
Or52z14 A G 7: 103,253,470 (GRCm39) Y203C probably damaging Het
Or5b94 A T 19: 12,652,210 (GRCm39) I214L probably benign Het
Pramel20 A G 4: 143,298,839 (GRCm39) T261A probably benign Het
Rgs2 T A 1: 143,877,606 (GRCm39) I150L probably benign Het
Rnf19a A T 15: 36,245,774 (GRCm39) D490E probably damaging Het
Spag5 T C 11: 78,212,355 (GRCm39) M1101T probably benign Het
Ulk4 A T 9: 120,997,265 (GRCm39) L769Q possibly damaging Het
Ythdc2 A G 18: 44,966,195 (GRCm39) S144G 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
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
R7111:Arhgef26 UTSW 3 62,252,689 (GRCm39) missense possibly damaging 0.90
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'- GGAATGAGCTCCCAAACCCTTC -3'
(R):5'- TCCCAGGCTAGAGAACTTCTCC -3'

Sequencing Primer
(F):5'- GTGGTTTTGAGTACCAACAGCCC -3'
(R):5'- AGGCTAGAGAACTTCTCCTTGTC -3'
Posted On 2015-04-29