Incidental Mutation 'R9498:Arhgef11'
ID 717350
Institutional Source Beutler Lab
Gene Symbol Arhgef11
Ensembl Gene ENSMUSG00000041977
Gene Name Rho guanine nucleotide exchange factor 11
Synonyms PDZ-RhoGEF, Prg
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9498 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 87524866-87645341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87640484 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 1243 (S1243G)
Ref Sequence ENSEMBL: ENSMUSP00000039900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023846] [ENSMUST00000039476] [ENSMUST00000129113] [ENSMUST00000152006]
AlphaFold Q68FM7
Predicted Effect probably benign
Transcript: ENSMUST00000023846
SMART Domains Protein: ENSMUSP00000023846
Gene: ENSMUSG00000023084

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
Blast:LRR 165 191 6e-7 BLAST
LRR 219 246 4.24e-1 SMART
LRR 251 278 1.33e-1 SMART
LRR 279 306 1.98e-4 SMART
low complexity region 312 323 N/A INTRINSIC
low complexity region 329 337 N/A INTRINSIC
low complexity region 376 390 N/A INTRINSIC
low complexity region 407 414 N/A INTRINSIC
LRR 472 499 1.83e2 SMART
low complexity region 547 557 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000039476
AA Change: S1243G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
AA Change: S1243G

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
PDZ 55 123 2.45e-18 SMART
low complexity region 149 160 N/A INTRINSIC
coiled coil region 205 231 N/A INTRINSIC
RGS 353 472 3.36e-11 SMART
low complexity region 554 565 N/A INTRINSIC
low complexity region 625 639 N/A INTRINSIC
low complexity region 681 694 N/A INTRINSIC
RhoGEF 768 952 1.11e-65 SMART
PH 996 1111 9.49e-6 SMART
low complexity region 1153 1166 N/A INTRINSIC
low complexity region 1176 1188 N/A INTRINSIC
low complexity region 1333 1343 N/A INTRINSIC
low complexity region 1357 1367 N/A INTRINSIC
low complexity region 1478 1490 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129113
AA Change: S1214G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000118123
Gene: ENSMUSG00000041977
AA Change: S1214G

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
PDZ 55 123 2.45e-18 SMART
low complexity region 149 160 N/A INTRINSIC
RGS 313 432 3.36e-11 SMART
low complexity region 596 610 N/A INTRINSIC
low complexity region 652 665 N/A INTRINSIC
RhoGEF 739 923 1.11e-65 SMART
PH 967 1082 9.49e-6 SMART
low complexity region 1124 1137 N/A INTRINSIC
low complexity region 1147 1159 N/A INTRINSIC
low complexity region 1304 1314 N/A INTRINSIC
low complexity region 1328 1338 N/A INTRINSIC
low complexity region 1449 1461 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000152006
SMART Domains Protein: ENSMUSP00000122166
Gene: ENSMUSG00000041977

DomainStartEndE-ValueType
low complexity region 12 18 N/A INTRINSIC
PDZ 55 123 2.45e-18 SMART
low complexity region 149 160 N/A INTRINSIC
coiled coil region 205 231 N/A INTRINSIC
RGS 353 472 3.36e-11 SMART
low complexity region 554 565 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
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 may form a complex with G proteins and stimulate Rho-dependent signals. A similar protein in rat interacts with glutamate transporter EAAT4 and modulates its glutamate transport activity. Expression of the rat protein induces the reorganization of the actin cytoskeleton and its overexpression induces the formation of membrane ruffling and filopodia. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit no obvious phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Aadacl3 A G 4: 144,182,989 (GRCm39) Y160H probably damaging Het
Abca17 T C 17: 24,484,480 (GRCm39) Y1594C probably damaging Het
Abca8a T C 11: 109,977,374 (GRCm39) I128M probably damaging Het
Abhd12b A G 12: 70,210,237 (GRCm39) I138V probably benign Het
Adcy8 G A 15: 64,792,045 (GRCm39) L304F possibly damaging Het
Alb T C 5: 90,617,362 (GRCm39) F354L probably damaging Het
Ampd3 T A 7: 110,409,053 (GRCm39) S688R probably damaging Het
Aoc1l3 AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC AGGCCCAGCC 6: 48,964,952 (GRCm39) probably benign Het
Areg T G 5: 91,294,553 (GRCm39) L237R probably damaging Het
B3glct A G 5: 149,673,894 (GRCm39) probably null Het
Casp7 T A 19: 56,424,767 (GRCm39) L162Q probably damaging Het
Cdh20 A G 1: 109,976,635 (GRCm39) N100S probably benign Het
Cdh22 G T 2: 164,954,490 (GRCm39) T677N probably damaging Het
Cmtm5 T A 14: 55,174,205 (GRCm39) S31T probably benign Het
Col6a3 T A 1: 90,713,650 (GRCm39) R2295* probably null Het
Cpa6 T C 1: 10,479,546 (GRCm39) N229S possibly damaging Het
Dagla G T 19: 10,232,218 (GRCm39) Y489* probably null Het
Dnah7b A G 1: 46,253,564 (GRCm39) K1823R probably benign Het
Dnah9 T C 11: 65,739,199 (GRCm39) N4180D probably damaging Het
Dsg3 A C 18: 20,658,278 (GRCm39) E296D probably damaging Het
Ednra A T 8: 78,446,934 (GRCm39) L48Q probably benign Het
Esco2 T C 14: 66,068,752 (GRCm39) D186G probably benign Het
Foxj2 A G 6: 122,819,792 (GRCm39) D560G probably damaging Het
Frmd3 G A 4: 74,038,055 (GRCm39) M105I probably benign Het
Gria4 A T 9: 4,503,560 (GRCm39) probably null Het
Hrob T C 11: 102,150,167 (GRCm39) S410P probably benign Het
Ifi204 T C 1: 173,583,537 (GRCm39) E227G possibly damaging Het
Lgalsl T A 11: 20,779,439 (GRCm39) I69F possibly damaging Het
Myo15b A G 11: 115,770,784 (GRCm39) T1588A Het
Myo9a A G 9: 59,734,466 (GRCm39) S683G probably damaging Het
Ncam2 T C 16: 81,309,887 (GRCm39) I459T probably benign Het
Nedd4l T C 18: 65,294,723 (GRCm39) probably null Het
Nfic T C 10: 81,256,502 (GRCm39) E54G probably damaging Het
Nrxn1 T C 17: 90,897,397 (GRCm39) T920A probably damaging Het
Obsl1 C T 1: 75,467,484 (GRCm39) C1430Y probably damaging Het
Or8k17 A G 2: 86,066,838 (GRCm39) F107L probably damaging Het
Pcbp2 G A 15: 102,406,941 (GRCm39) G357D probably benign Het
Pcdhb1 A G 18: 37,398,516 (GRCm39) S156G probably damaging Het
Pcdhb15 A T 18: 37,606,890 (GRCm39) R41* probably null Het
Pde1b A T 15: 103,435,489 (GRCm39) D448V probably benign Het
Pex7 G A 10: 19,762,859 (GRCm39) R227* probably null Het
Pkp1 T A 1: 135,817,820 (GRCm39) Y105F probably benign Het
Plbd1 T C 6: 136,589,244 (GRCm39) T529A possibly damaging Het
Plxnc1 C G 10: 94,649,004 (GRCm39) Q1258H possibly damaging Het
Prr36 T A 8: 4,263,291 (GRCm39) T792S unknown Het
Rasgrf1 A T 9: 89,826,921 (GRCm39) T177S probably benign Het
Rbm14 A G 19: 4,853,495 (GRCm39) S296P probably benign Het
Rfx8 T C 1: 39,724,674 (GRCm39) Y229C probably damaging Het
Rgs3 A T 4: 62,575,412 (GRCm39) S600C probably damaging Het
Slc29a4 T A 5: 142,704,233 (GRCm39) S296T probably benign Het
Speer4a3 AACT A 5: 26,155,849 (GRCm39) probably benign Het
Srsf6 A G 2: 162,774,009 (GRCm39) E68G probably benign Het
Syt13 A T 2: 92,781,749 (GRCm39) N317Y possibly damaging Het
Tars2 A T 3: 95,647,553 (GRCm39) L701Q probably damaging Het
Tbc1d16 A T 11: 119,048,681 (GRCm39) V324E probably damaging Het
Tbc1d21 A G 9: 58,273,924 (GRCm39) L84P probably damaging Het
Trappc6b A G 12: 59,097,127 (GRCm39) M65T possibly damaging Het
Tubb1 A G 2: 174,299,403 (GRCm39) N362D probably benign Het
Tubgcp5 C T 7: 55,463,233 (GRCm39) T475M possibly damaging Het
Ugt2b37 T C 5: 87,402,244 (GRCm39) K129R probably benign Het
Vmn2r55 A G 7: 12,404,812 (GRCm39) V197A probably damaging Het
Wfdc3 G A 2: 164,584,997 (GRCm39) L4F possibly damaging Het
Zfp141 T A 7: 42,125,770 (GRCm39) Q234L probably benign Het
Zfp850 T C 7: 27,689,275 (GRCm39) K311R possibly damaging Het
Other mutations in Arhgef11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00898:Arhgef11 APN 3 87,636,810 (GRCm39) missense probably damaging 1.00
IGL00900:Arhgef11 APN 3 87,590,867 (GRCm39) missense possibly damaging 0.71
IGL01291:Arhgef11 APN 3 87,640,481 (GRCm39) missense probably benign 0.00
IGL01475:Arhgef11 APN 3 87,634,433 (GRCm39) splice site probably benign
IGL01599:Arhgef11 APN 3 87,644,353 (GRCm39) missense probably benign
IGL02251:Arhgef11 APN 3 87,590,854 (GRCm39) missense probably damaging 1.00
IGL02651:Arhgef11 APN 3 87,606,171 (GRCm39) missense probably damaging 0.99
IGL02884:Arhgef11 APN 3 87,635,313 (GRCm39) missense probably damaging 1.00
IGL02900:Arhgef11 APN 3 87,640,467 (GRCm39) missense probably benign 0.07
IGL03017:Arhgef11 APN 3 87,624,367 (GRCm39) nonsense probably null
ANU05:Arhgef11 UTSW 3 87,640,481 (GRCm39) missense probably benign 0.00
R0049:Arhgef11 UTSW 3 87,636,500 (GRCm39) splice site probably null
R0049:Arhgef11 UTSW 3 87,636,500 (GRCm39) splice site probably null
R0129:Arhgef11 UTSW 3 87,635,370 (GRCm39) missense probably damaging 1.00
R0486:Arhgef11 UTSW 3 87,596,159 (GRCm39) splice site probably null
R0698:Arhgef11 UTSW 3 87,640,766 (GRCm39) missense probably benign 0.24
R0701:Arhgef11 UTSW 3 87,640,766 (GRCm39) missense probably benign 0.24
R0849:Arhgef11 UTSW 3 87,643,203 (GRCm39) missense probably benign 0.24
R1055:Arhgef11 UTSW 3 87,624,425 (GRCm39) missense probably benign 0.19
R1256:Arhgef11 UTSW 3 87,634,442 (GRCm39) missense possibly damaging 0.81
R1401:Arhgef11 UTSW 3 87,640,776 (GRCm39) nonsense probably null
R1543:Arhgef11 UTSW 3 87,620,324 (GRCm39) missense probably benign 0.10
R1547:Arhgef11 UTSW 3 87,602,709 (GRCm39) missense possibly damaging 0.87
R1564:Arhgef11 UTSW 3 87,609,817 (GRCm39) missense probably benign
R1675:Arhgef11 UTSW 3 87,638,518 (GRCm39) missense possibly damaging 0.84
R2082:Arhgef11 UTSW 3 87,633,303 (GRCm39) missense possibly damaging 0.47
R2293:Arhgef11 UTSW 3 87,635,297 (GRCm39) missense probably damaging 1.00
R4739:Arhgef11 UTSW 3 87,605,306 (GRCm39) missense possibly damaging 0.47
R4930:Arhgef11 UTSW 3 87,635,901 (GRCm39) missense probably damaging 1.00
R5130:Arhgef11 UTSW 3 87,633,321 (GRCm39) missense possibly damaging 0.71
R5151:Arhgef11 UTSW 3 87,642,667 (GRCm39) missense probably damaging 1.00
R5157:Arhgef11 UTSW 3 87,635,817 (GRCm39) splice site probably null
R5203:Arhgef11 UTSW 3 87,642,664 (GRCm39) missense probably damaging 1.00
R5329:Arhgef11 UTSW 3 87,587,059 (GRCm39) intron probably benign
R5615:Arhgef11 UTSW 3 87,629,792 (GRCm39) critical splice donor site probably null
R5646:Arhgef11 UTSW 3 87,591,793 (GRCm39) missense possibly damaging 0.94
R6125:Arhgef11 UTSW 3 87,636,909 (GRCm39) missense probably damaging 1.00
R6242:Arhgef11 UTSW 3 87,635,385 (GRCm39) missense probably benign
R6543:Arhgef11 UTSW 3 87,640,715 (GRCm39) missense probably benign 0.09
R6801:Arhgef11 UTSW 3 87,643,159 (GRCm39) missense possibly damaging 0.53
R6939:Arhgef11 UTSW 3 87,594,227 (GRCm39) missense probably damaging 1.00
R7008:Arhgef11 UTSW 3 87,636,525 (GRCm39) missense possibly damaging 0.92
R7155:Arhgef11 UTSW 3 87,616,879 (GRCm39) nonsense probably null
R7169:Arhgef11 UTSW 3 87,634,755 (GRCm39) missense possibly damaging 0.79
R7325:Arhgef11 UTSW 3 87,620,599 (GRCm39) missense possibly damaging 0.62
R7392:Arhgef11 UTSW 3 87,624,482 (GRCm39) critical splice donor site probably null
R7683:Arhgef11 UTSW 3 87,629,690 (GRCm39) missense probably damaging 0.98
R7875:Arhgef11 UTSW 3 87,591,808 (GRCm39) missense probably damaging 1.00
R7912:Arhgef11 UTSW 3 87,640,529 (GRCm39) missense probably damaging 1.00
R7980:Arhgef11 UTSW 3 87,605,297 (GRCm39) missense probably benign 0.01
R8028:Arhgef11 UTSW 3 87,642,859 (GRCm39) missense probably benign
R8081:Arhgef11 UTSW 3 87,632,949 (GRCm39) missense probably damaging 1.00
R8118:Arhgef11 UTSW 3 87,643,164 (GRCm39) missense probably damaging 1.00
R8207:Arhgef11 UTSW 3 87,606,082 (GRCm39) missense possibly damaging 0.71
R8290:Arhgef11 UTSW 3 87,633,275 (GRCm39) missense probably damaging 1.00
R8443:Arhgef11 UTSW 3 87,620,406 (GRCm39) missense probably benign 0.17
R8543:Arhgef11 UTSW 3 87,589,181 (GRCm39) missense probably damaging 1.00
R8808:Arhgef11 UTSW 3 87,593,336 (GRCm39) missense probably damaging 1.00
R8969:Arhgef11 UTSW 3 87,632,949 (GRCm39) missense probably damaging 1.00
R8976:Arhgef11 UTSW 3 87,635,321 (GRCm39) missense probably benign
R8983:Arhgef11 UTSW 3 87,640,508 (GRCm39) missense
R8987:Arhgef11 UTSW 3 87,637,788 (GRCm39) missense probably damaging 1.00
R9168:Arhgef11 UTSW 3 87,633,790 (GRCm39) missense probably damaging 1.00
R9741:Arhgef11 UTSW 3 87,595,156 (GRCm39) missense probably benign 0.03
X0011:Arhgef11 UTSW 3 87,629,713 (GRCm39) missense probably benign
Z1176:Arhgef11 UTSW 3 87,642,769 (GRCm39) missense not run
Predicted Primers PCR Primer
(F):5'- ACCTGCTCAGAGTTCCCTAC -3'
(R):5'- CCCTCTGGCCTTGGAAATTG -3'

Sequencing Primer
(F):5'- CCCTACTAGCTATGCTTGAGGGAAG -3'
(R):5'- AAATTGGGTGTTGTCACTTATAGCAG -3'
Posted On 2022-07-18