Incidental Mutation 'R7155:Arhgef11'
ID 557198
Institutional Source Beutler Lab
Gene Symbol Arhgef11
Ensembl Gene ENSMUSG00000041977
Gene Name Rho guanine nucleotide exchange factor 11
Synonyms PDZ-RhoGEF, Prg
MMRRC Submission 045226-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7155 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 87524866-87645341 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 87616879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 383 (Y383*)
Ref Sequence ENSEMBL: ENSMUSP00000039900 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039476] [ENSMUST00000129113] [ENSMUST00000152006]
AlphaFold Q68FM7
Predicted Effect probably null
Transcript: ENSMUST00000039476
AA Change: Y383*
SMART Domains Protein: ENSMUSP00000039900
Gene: ENSMUSG00000041977
AA Change: Y383*

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 null
Transcript: ENSMUST00000129113
AA Change: Y343*
SMART Domains Protein: ENSMUSP00000118123
Gene: ENSMUSG00000041977
AA Change: Y343*

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 null
Transcript: ENSMUST00000152006
AA Change: Y383*
SMART Domains Protein: ENSMUSP00000122166
Gene: ENSMUSG00000041977
AA Change: Y383*

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: 98.8%
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921509C19Rik A G 2: 151,315,489 (GRCm39) L63P possibly damaging Het
Abca13 A T 11: 9,479,010 (GRCm39) Y4286F probably benign Het
Aldh5a1 A C 13: 25,095,572 (GRCm39) V515G possibly damaging Het
Ankrd42 T C 7: 92,241,141 (GRCm39) E406G possibly damaging Het
Arfgef2 T A 2: 166,707,733 (GRCm39) M1043K probably benign Het
Aste1 C T 9: 105,282,335 (GRCm39) P614L probably damaging Het
B3galt5 T A 16: 96,117,005 (GRCm39) S213T probably damaging Het
Bak1 A G 17: 27,241,434 (GRCm39) L108P possibly damaging Het
Bcl6 G A 16: 23,784,976 (GRCm39) R675* probably null Het
Bdp1 T G 13: 100,197,659 (GRCm39) T909P possibly damaging Het
Cacna1i A G 15: 80,279,439 (GRCm39) H2060R probably benign Het
Cdhr3 G T 12: 33,111,772 (GRCm39) P246Q probably damaging Het
Colgalt1 T C 8: 72,076,354 (GRCm39) S602P probably damaging Het
Csde1 T C 3: 102,947,269 (GRCm39) S74P probably damaging Het
Cyp51 A T 5: 4,137,846 (GRCm39) C366S possibly damaging Het
Dcaf7 A G 11: 105,928,016 (GRCm39) N23D probably damaging Het
Ddx10 G A 9: 53,028,588 (GRCm39) A772V probably benign Het
Ddx4 A G 13: 112,750,319 (GRCm39) F404S probably benign Het
Dlg4 T A 11: 69,908,042 (GRCm39) M1K probably null Het
Dnajc6 T C 4: 101,470,142 (GRCm39) V293A probably damaging Het
Etl4 G T 2: 20,811,742 (GRCm39) R1643L probably damaging Het
F13b G A 1: 139,435,895 (GRCm39) E234K probably damaging Het
Fam171a1 T C 2: 3,226,766 (GRCm39) I633T probably benign Het
Frem3 A G 8: 81,342,668 (GRCm39) I1654V probably benign Het
Galr2 A G 11: 116,174,408 (GRCm39) E346G possibly damaging Het
Gck G A 11: 5,899,705 (GRCm39) probably benign Het
Gen1 G T 12: 11,291,833 (GRCm39) T717K probably benign Het
Gpatch8 TTCCTCCTCCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC 11: 102,371,014 (GRCm39) probably benign Het
Hat1 A G 2: 71,251,595 (GRCm39) T215A possibly damaging Het
Hmbox1 A T 14: 65,134,486 (GRCm39) M38K probably damaging Het
Ifi47 A G 11: 48,987,369 (GRCm39) K379E probably benign Het
Ift81 T C 5: 122,707,062 (GRCm39) Y460C probably damaging Het
Jarid2 T A 13: 45,055,938 (GRCm39) S381R probably damaging Het
Kmt2b A T 7: 30,279,388 (GRCm39) V1458E probably damaging Het
Kpna4 G T 3: 68,997,266 (GRCm39) P336Q probably damaging Het
Krt84 T C 15: 101,440,689 (GRCm39) R168G probably damaging Het
Lhx8 T A 3: 154,030,221 (GRCm39) Y137F possibly damaging Het
Lin7b T C 7: 45,019,651 (GRCm39) E19G probably damaging Het
Lrmda A T 14: 22,634,608 (GRCm39) R131S probably damaging Het
Lrrc75b C T 10: 75,389,512 (GRCm39) A280T possibly damaging Het
Megf11 G A 9: 64,555,233 (GRCm39) R268K probably null Het
Mgat4e G T 1: 134,469,697 (GRCm39) Q116K probably damaging Het
Mlkl A G 8: 112,046,035 (GRCm39) L325P probably damaging Het
Mup2 A G 4: 60,137,641 (GRCm39) L134P probably damaging Het
Myo19 A G 11: 84,791,412 (GRCm39) E489G probably damaging Het
Ncbp3 C A 11: 72,938,835 (GRCm39) P37Q probably damaging Het
Nf2 A G 11: 4,749,964 (GRCm39) V236A probably damaging Het
Nlrp1a A T 11: 71,014,905 (GRCm39) M115K possibly damaging Het
Nsf T A 11: 103,719,356 (GRCm39) K649* probably null Het
Olfml2b A T 1: 170,494,354 (GRCm39) I313L probably benign Het
Or2ak4 T A 11: 58,649,109 (GRCm39) I206N probably damaging Het
Or52u1 T A 7: 104,237,764 (GRCm39) V251D possibly damaging Het
Papln T A 12: 83,823,295 (GRCm39) L444Q probably damaging Het
Phc3 T C 3: 30,968,346 (GRCm39) I897V probably benign Het
Plcg1 T C 2: 160,596,300 (GRCm39) L632P probably damaging Het
Pramel21 A T 4: 143,342,735 (GRCm39) I281F probably benign Het
Prkg1 T C 19: 31,279,701 (GRCm39) T178A probably damaging Het
Ptges T A 2: 30,782,816 (GRCm39) T79S probably benign Het
Rab26 T C 17: 24,751,263 (GRCm39) T81A probably damaging Het
Rai14 T A 15: 10,595,089 (GRCm39) I145L possibly damaging Het
Rasgrf1 A G 9: 89,884,414 (GRCm39) T960A possibly damaging Het
Rfx1 A T 8: 84,821,455 (GRCm39) I755F probably damaging Het
Rims1 T G 1: 22,503,174 (GRCm39) L670F probably damaging Het
Rtkn G A 6: 83,126,692 (GRCm39) C297Y probably damaging Het
Sec23a A T 12: 59,036,229 (GRCm39) N378K probably benign Het
Slc1a2 T C 2: 102,597,340 (GRCm39) M449T probably damaging Het
Slc22a3 G A 17: 12,652,518 (GRCm39) L369F possibly damaging Het
Slc34a1 A G 13: 24,006,390 (GRCm39) E472G probably benign Het
Slc49a4 G T 16: 35,555,947 (GRCm39) T171K probably benign Het
Smad6 G T 9: 63,929,069 (GRCm39) D82E unknown Het
Smgc A T 15: 91,736,811 (GRCm39) I463F possibly damaging Het
Strada C A 11: 106,061,865 (GRCm39) G166C probably damaging Het
Tcaf3 A G 6: 42,570,825 (GRCm39) V309A probably benign Het
Tet2 C T 3: 133,175,352 (GRCm39) E1332K possibly damaging Het
Tfcp2l1 A G 1: 118,596,362 (GRCm39) N366D probably damaging Het
Tll2 G A 19: 41,105,723 (GRCm39) P369L possibly damaging Het
Tox4 T C 14: 52,529,554 (GRCm39) V505A probably benign Het
Trbv4 A G 6: 41,036,787 (GRCm39) D104G probably damaging Het
Ugdh T C 5: 65,574,380 (GRCm39) E416G probably damaging Het
Usp47 T A 7: 111,686,220 (GRCm39) C613S probably damaging Het
Vmn1r11 T A 6: 57,115,147 (GRCm39) N270K probably benign Het
Wsb2 T A 5: 117,509,160 (GRCm39) L147Q probably damaging Het
Xrn1 G A 9: 95,861,198 (GRCm39) A453T possibly damaging Het
Zan A G 5: 137,460,106 (GRCm39) S1262P unknown Het
Zswim4 A G 8: 84,946,556 (GRCm39) L700P 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
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
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'- GGGGAGGTTGTCTTAATTTGAAGATA -3'
(R):5'- GCACCAGCCTAGTGAACACA -3'

Sequencing Primer
(F):5'- ATATTTACCACTTACTGGACTCTACC -3'
(R):5'- ACAAACCCCGTCTCTATTTAGC -3'
Posted On 2019-06-26