Incidental Mutation 'R7008:Arhgef11'
ID 544813
Institutional Source Beutler Lab
Gene Symbol Arhgef11
Ensembl Gene ENSMUSG00000041977
Gene Name Rho guanine nucleotide exchange factor 11
Synonyms PDZ-RhoGEF, Prg
MMRRC Submission 045110-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7008 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 87524866-87645341 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 87636525 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 992 (T992K)
Ref Sequence ENSEMBL: ENSMUSP00000039900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039476] [ENSMUST00000129113] [ENSMUST00000152006]
AlphaFold Q68FM7
Predicted Effect possibly damaging
Transcript: ENSMUST00000039476
AA Change: T992K

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
AA Change: T992K

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: T963K

PolyPhen 2 Score 0.430 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118123
Gene: ENSMUSG00000041977
AA Change: T963K

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: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd17 T A 5: 90,407,955 (GRCm39) I1421F possibly damaging Het
Arid1b T C 17: 5,341,254 (GRCm39) Y853H probably damaging Het
Bcl10 G T 3: 145,639,054 (GRCm39) R232L probably benign Het
Best2 T A 8: 85,739,840 (GRCm39) I76F possibly damaging Het
Card11 G C 5: 140,859,148 (GRCm39) R1133G probably damaging Het
Card9 T C 2: 26,247,811 (GRCm39) D180G possibly damaging Het
Ccdc162 T A 10: 41,428,411 (GRCm39) E119V probably damaging Het
Ccdc168 T C 1: 44,098,785 (GRCm39) D771G probably benign Het
Cd2bp2 T C 7: 126,794,567 (GRCm39) D15G possibly damaging Het
Cdk7 A C 13: 100,854,129 (GRCm39) M120R probably damaging Het
Cryba4 T A 5: 112,399,648 (GRCm39) T2S probably benign Het
Cyp19a1 A T 9: 54,100,609 (GRCm39) M26K probably benign Het
Dgcr2 A G 16: 17,662,865 (GRCm39) S157P probably damaging Het
Dis3l A G 9: 64,217,735 (GRCm39) F782S possibly damaging Het
Ephb4 T A 5: 137,359,536 (GRCm39) S369T probably benign Het
Fhad1 CGG CG 4: 141,645,602 (GRCm39) probably null Het
H1f4 T C 13: 23,806,192 (GRCm39) K97E probably damaging Het
Igf2bp2 A T 16: 21,900,582 (GRCm39) D118E probably benign Het
Iqgap3 GGAGAG GGAG 3: 88,020,078 (GRCm39) probably null Het
Klhl5 T C 5: 65,300,592 (GRCm39) S52P probably benign Het
Lrrc28 A T 7: 67,245,459 (GRCm39) probably benign Het
Map4k4 T G 1: 40,028,131 (GRCm39) D317E probably benign Het
Maz A T 7: 126,623,784 (GRCm39) C66S probably damaging Het
Mbd4 T C 6: 115,827,685 (GRCm39) T43A possibly damaging Het
Milr1 T A 11: 106,642,140 (GRCm39) S11T probably damaging Het
Mthfd2l T A 5: 91,107,587 (GRCm39) C150S probably damaging Het
Nemf A T 12: 69,388,395 (GRCm39) N325K possibly damaging Het
Nemf C T 12: 69,400,567 (GRCm39) probably null Het
Nod2 T A 8: 89,390,285 (GRCm39) C197* probably null Het
Odf2l A G 3: 144,838,495 (GRCm39) K241E probably damaging Het
Or4z4 G A 19: 12,076,214 (GRCm39) T263I possibly damaging Het
Or5b124 A T 19: 13,610,985 (GRCm39) N170I probably damaging Het
Osbpl10 T G 9: 114,890,916 (GRCm39) D101E probably damaging Het
Osgin1 T C 8: 120,168,233 (GRCm39) V20A possibly damaging Het
Pan3 T A 5: 147,482,503 (GRCm39) C438S probably damaging Het
Plaa A G 4: 94,457,586 (GRCm39) *795Q probably null Het
Prss35 T C 9: 86,638,361 (GRCm39) V377A probably benign Het
Rab5c G A 11: 100,610,789 (GRCm39) R40C probably damaging Het
Rasl12 G A 9: 65,318,151 (GRCm39) V172M probably damaging Het
Rdh16f1 A G 10: 127,626,775 (GRCm39) H276R probably benign Het
Runx2 G A 17: 45,125,079 (GRCm39) P80L probably damaging Het
Sez6l T C 5: 112,612,561 (GRCm39) Y460C probably damaging Het
Sipa1l1 T G 12: 82,409,886 (GRCm39) M600R probably damaging Het
Slc11a2 T C 15: 100,307,205 (GRCm39) Y92C probably damaging Het
Slc4a10 A G 2: 62,117,266 (GRCm39) T712A probably benign Het
Sntb1 A T 15: 55,655,468 (GRCm39) Y249* probably null Het
Spatc1 A G 15: 76,167,923 (GRCm39) I127M probably benign Het
Sting1 C A 18: 35,868,224 (GRCm39) R292L probably damaging Het
Synj1 A T 16: 90,790,833 (GRCm39) N109K probably damaging Het
Tdg T A 10: 82,484,475 (GRCm39) M396K possibly damaging Het
Tmem252 T C 19: 24,651,656 (GRCm39) V75A probably damaging Het
Trim40 T C 17: 37,194,868 (GRCm39) Q142R probably damaging Het
Trip6 T C 5: 137,311,228 (GRCm39) T163A probably damaging Het
Ttn T C 2: 76,724,986 (GRCm39) probably benign Het
Wdr95 T C 5: 149,535,005 (GRCm39) L721P probably benign Het
Zfp385c A T 11: 100,521,513 (GRCm39) D182E probably damaging Het
Zfp597 A G 16: 3,683,631 (GRCm39) F375S probably benign Het
Zfp658 T G 7: 43,223,336 (GRCm39) F537C possibly damaging Het
Zgrf1 T C 3: 127,355,421 (GRCm39) F216L 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
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
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'- AGCACGTCTCCATTGGTATATCC -3'
(R):5'- TCAAGGAGTCCTACGCTGAC -3'

Sequencing Primer
(F):5'- ATTGGTATATCCCCCAGAGCATC -3'
(R):5'- AGGAGTCCTACGCTGACATTCTAG -3'
Posted On 2019-05-13