Incidental Mutation 'R0701:Arhgef11'
ID 63002
Institutional Source Beutler Lab
Gene Symbol Arhgef11
Ensembl Gene ENSMUSG00000041977
Gene Name Rho guanine nucleotide exchange factor 11
Synonyms PDZ-RhoGEF, Prg
MMRRC Submission 038884-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0701 (G1)
Quality Score 155
Status Not validated
Chromosome 3
Chromosomal Location 87524866-87645341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 87640766 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 1308 (A1308S)
Ref Sequence ENSEMBL: ENSMUSP00000118123 (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: A1337S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
AA Change: A1337S

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: A1308S

PolyPhen 2 Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000118123
Gene: ENSMUSG00000041977
AA Change: A1308S

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 91.3%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ada A G 2: 163,571,995 (GRCm39) V261A probably benign Het
Arhgef10 T A 8: 15,012,636 (GRCm39) V320E probably damaging Het
Bach1 G A 16: 87,516,877 (GRCm39) E473K probably damaging Het
Bsph1 G T 7: 13,206,181 (GRCm39) C72F probably damaging Het
C2cd2l A G 9: 44,227,499 (GRCm39) L186P probably damaging Het
C9 A C 15: 6,496,902 (GRCm39) T200P probably damaging Het
Cald1 AAGAGAGAGAGAGAG AAGAGAGAGAGAG 6: 34,723,108 (GRCm39) probably null Het
Chd1 C A 17: 15,945,693 (GRCm39) N72K probably benign Het
Copg1 T A 6: 87,871,089 (GRCm39) Y268* probably null Het
Csad A G 15: 102,087,571 (GRCm39) S331P probably benign Het
Ddx31 G T 2: 28,748,789 (GRCm39) R239L probably null Het
Fat1 G T 8: 45,479,590 (GRCm39) A2879S probably benign Het
Fig4 T A 10: 41,116,508 (GRCm39) R628* probably null Het
Fmnl3 T C 15: 99,219,188 (GRCm39) N778S probably damaging Het
Gm10912 T C 2: 103,896,875 (GRCm39) S5P probably benign Het
Haus3 G A 5: 34,323,359 (GRCm39) T417M probably benign Het
Herc1 T G 9: 66,395,232 (GRCm39) V4189G probably damaging Het
Hoxb3 C A 11: 96,237,074 (GRCm39) S384* probably null Het
Ifnar2 A G 16: 91,201,117 (GRCm39) T453A possibly damaging Het
Ift140 A G 17: 25,309,907 (GRCm39) T1105A probably benign Het
Kmt2e T C 5: 23,678,581 (GRCm39) V220A probably benign Het
Lrriq1 A T 10: 103,069,905 (GRCm39) V37E probably benign Het
Lrrn4 G A 2: 132,712,080 (GRCm39) T581M probably benign Het
Mcur1 T C 13: 43,699,216 (GRCm39) Y267C probably damaging Het
Mdn1 T A 4: 32,699,263 (GRCm39) D1313E probably benign Het
Med13 T A 11: 86,197,864 (GRCm39) T736S probably benign Het
Mlh3 A T 12: 85,314,677 (GRCm39) I503K probably benign Het
Nckap5 A G 1: 125,953,094 (GRCm39) F1089L probably benign Het
Or1e35 A T 11: 73,797,655 (GRCm39) I221N probably damaging Het
Or4c10 A G 2: 89,760,545 (GRCm39) T131A probably benign Het
Or4k48 C T 2: 111,476,136 (GRCm39) V69I probably benign Het
Pdgfd A T 9: 6,359,706 (GRCm39) D259V probably damaging Het
Pramel22 C T 4: 143,383,010 (GRCm39) E70K possibly damaging Het
R3hdm1 A G 1: 128,109,476 (GRCm39) Y309C probably damaging Het
Rab27b A T 18: 70,118,270 (GRCm39) C216S probably damaging Het
Robo2 A G 16: 73,843,762 (GRCm39) I151T probably damaging Het
Sh2d4a A G 8: 68,783,747 (GRCm39) D227G probably damaging Het
Sis G T 3: 72,848,378 (GRCm39) T632K probably damaging Het
Smcr8 T C 11: 60,668,941 (GRCm39) Y30H probably damaging Het
Stap1 T C 5: 86,242,667 (GRCm39) probably null Het
Syt16 G A 12: 74,281,886 (GRCm39) V337I probably benign Het
Taf1c A T 8: 120,326,722 (GRCm39) I438N probably damaging Het
Ttn A G 2: 76,728,412 (GRCm39) probably benign Het
Unc45b T A 11: 82,831,031 (GRCm39) L797Q possibly damaging Het
Usp6nl A G 2: 6,419,829 (GRCm39) E144G possibly damaging Het
Wiz A T 17: 32,575,415 (GRCm39) I907N probably damaging Het
Zap70 G A 1: 36,820,258 (GRCm39) R513Q probably 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
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
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'- CGAGCCTGAAGATGACCTTACACC -3'
(R):5'- GGTCCCAATGCCAGTTTGTTCACTC -3'

Sequencing Primer
(F):5'- GTCGTCAGCATTACCTCTCAC -3'
(R):5'- TGTTCACTCAGTATCTAGGAGAAGG -3'
Posted On 2013-07-30