Incidental Mutation 'R6543:Arhgef11'
ID 520906
Institutional Source Beutler Lab
Gene Symbol Arhgef11
Ensembl Gene ENSMUSG00000041977
Gene Name Rho guanine nucleotide exchange factor 11
Synonyms PDZ-RhoGEF, Prg
MMRRC Submission 044669-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6543 (G1)
Quality Score 225.009
Status Validated
Chromosome 3
Chromosomal Location 87524866-87645341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 87640715 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 1320 (N1320D)
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: N1320D

PolyPhen 2 Score 0.094 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
AA Change: N1320D

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: N1291D

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118123
Gene: ENSMUSG00000041977
AA Change: N1291D

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000172985
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174381
Meta Mutation Damage Score 0.0620 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 100% (41/41)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap4e1 T C 2: 126,908,525 (GRCm39) V1091A probably benign Het
Atl3 T A 19: 7,487,463 (GRCm39) F126Y probably damaging Het
Borcs5 C T 6: 134,687,143 (GRCm39) T167M probably damaging Het
Cplane2 T G 4: 140,944,599 (GRCm39) V50G probably benign Het
Creld2 A G 15: 88,709,481 (GRCm39) T331A probably benign Het
Cuzd1 A G 7: 130,911,497 (GRCm39) V494A probably damaging Het
Dclk1 C T 3: 55,407,552 (GRCm39) P244S probably damaging Het
Esyt3 T C 9: 99,220,825 (GRCm39) N126S possibly damaging Het
Focad T C 4: 88,197,493 (GRCm39) S629P unknown Het
Grip1 T C 10: 119,821,499 (GRCm39) L389P probably benign Het
Igkv4-91 A T 6: 68,745,582 (GRCm39) D105E probably damaging Het
Il20ra G A 10: 19,625,071 (GRCm39) A117T probably damaging Het
Il6ra A G 3: 89,784,170 (GRCm39) V367A probably damaging Het
Itga8 C T 2: 12,306,455 (GRCm39) V47M probably damaging Het
Limk2 T C 11: 3,300,682 (GRCm39) Y220C probably damaging Het
Lims1 T A 10: 58,248,273 (GRCm39) C243* probably null Het
Man1a C A 10: 53,811,077 (GRCm39) G435* probably null Het
Msantd5f4 A G 4: 73,557,215 (GRCm39) E16G probably damaging Het
Mtor T A 4: 148,630,053 (GRCm39) I2250N probably damaging Het
N4bp1 G A 8: 87,588,534 (GRCm39) Q135* probably null Het
Nbeal2 A T 9: 110,473,526 (GRCm39) D76E probably benign Het
Nbn T C 4: 15,986,605 (GRCm39) S669P probably benign Het
Nfrkb C T 9: 31,312,281 (GRCm39) Q456* probably null Het
Or6c3b C A 10: 129,527,859 (GRCm39) G17V probably benign Het
Pcnx3 C T 19: 5,715,275 (GRCm39) A1557T probably benign Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Prokr2 T A 2: 132,215,819 (GRCm39) Q53L probably benign Het
Pxmp4 C A 2: 154,429,979 (GRCm39) A137S possibly damaging Het
Rasef C T 4: 73,698,756 (GRCm39) probably benign Het
Scpppq1 T C 5: 104,222,741 (GRCm39) probably benign Het
Scrt2 C T 2: 151,935,063 (GRCm39) A72V probably benign Het
Sipa1l2 T C 8: 126,177,101 (GRCm39) E1171G possibly damaging Het
Slc26a8 T C 17: 28,857,375 (GRCm39) T923A possibly damaging Het
Slco1a6 T C 6: 142,078,872 (GRCm39) K141R probably benign Het
Slfn5 T A 11: 82,849,492 (GRCm39) probably null Het
Sympk A T 7: 18,770,755 (GRCm39) H282L probably damaging Het
Tnr A G 1: 159,751,677 (GRCm39) Y1324C probably damaging Het
Topaz1 A G 9: 122,577,600 (GRCm39) N170S possibly damaging Het
Trav6-3 T C 14: 53,666,219 (GRCm39) M1T probably null Het
Trim66 A G 7: 109,075,086 (GRCm39) S392P probably benign Het
Ttn T C 2: 76,599,155 (GRCm39) T10958A probably damaging Het
Ubr7 A G 12: 102,734,494 (GRCm39) K256R probably benign 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
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
R9498:Arhgef11 UTSW 3 87,640,484 (GRCm39) missense probably benign
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'- TGGTCACACTGTGAAGACTC -3'
(R):5'- AAGGATGCAGCAAGTGTCTG -3'

Sequencing Primer
(F):5'- TCACACTGTGAAGACTCAGGCTG -3'
(R):5'- AGCAAGTGTCTGCCTGTAAC -3'
Posted On 2018-06-06