Incidental Mutation 'R5615:Arhgef11'
ID 438175
Institutional Source Beutler Lab
Gene Symbol Arhgef11
Ensembl Gene ENSMUSG00000041977
Gene Name Rho guanine nucleotide exchange factor 11
Synonyms PDZ-RhoGEF, Prg
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5615 (G1)
Quality Score 122
Status Not validated
Chromosome 3
Chromosomal Location 87524866-87645341 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 87629792 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118123 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039476] [ENSMUST00000129113] [ENSMUST00000152006]
AlphaFold Q68FM7
Predicted Effect probably null
Transcript: ENSMUST00000039476
SMART Domains Protein: ENSMUSP00000039900
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
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
SMART Domains Protein: ENSMUSP00000118123
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
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: 99.8%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.4%
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
Abca12 A T 1: 71,346,218 (GRCm39) L884H probably damaging Het
Ahr A G 12: 35,553,884 (GRCm39) V745A probably benign Het
Ankrd17 A T 5: 90,431,295 (GRCm39) S830T possibly damaging Het
Aox1 A G 1: 58,136,125 (GRCm39) T1123A probably benign Het
Bcas3 T A 11: 85,361,587 (GRCm39) C250S probably damaging Het
Bckdk T C 7: 127,506,489 (GRCm39) I272T probably damaging Het
Cacna1e T C 1: 154,287,916 (GRCm39) K1897E probably damaging Het
Cd180 A T 13: 102,842,711 (GRCm39) I586F probably benign Het
Cep290 A G 10: 100,367,012 (GRCm39) D1121G probably damaging Het
Clasrp A G 7: 19,320,372 (GRCm39) probably benign Het
Col27a1 G T 4: 63,199,351 (GRCm39) K912N probably damaging Het
Dock4 G T 12: 40,699,479 (GRCm39) R231L probably benign Het
Ell G A 8: 71,043,382 (GRCm39) S505N probably benign Het
Ephb6 A G 6: 41,596,225 (GRCm39) T833A probably benign Het
Hemk1 T A 9: 107,208,023 (GRCm39) probably null Het
Hjurp GT GTT 1: 88,194,246 (GRCm39) probably null Het
Hspa12a T C 19: 58,793,082 (GRCm39) I368V possibly damaging Het
Igkv3-3 A T 6: 70,664,214 (GRCm39) T19S probably benign Het
Itpr1 G A 6: 108,465,561 (GRCm39) A2158T possibly damaging Het
Lancl2 T C 6: 57,699,496 (GRCm39) Y104H probably damaging Het
Leng8 G T 7: 4,147,957 (GRCm39) E634* probably null Het
Lrrk1 A T 7: 65,937,363 (GRCm39) C930S probably damaging Het
Lvrn C T 18: 46,983,395 (GRCm39) S46L possibly damaging Het
Mcidas G A 13: 113,133,959 (GRCm39) V148I probably benign Het
Mprip A T 11: 59,649,313 (GRCm39) T1006S probably benign Het
Mrgprb3 T A 7: 48,293,234 (GRCm39) M106L probably benign Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mtor G A 4: 148,622,733 (GRCm39) V1938I possibly damaging Het
Muc2 A G 7: 141,277,446 (GRCm39) D46G probably damaging Het
Nfkb2 G T 19: 46,296,006 (GRCm39) E170D probably benign Het
Or10ag52 T A 2: 87,044,083 (GRCm39) F282L probably benign Het
Or6c215 A T 10: 129,637,636 (GRCm39) C253S probably damaging Het
Osbp2 C T 11: 3,813,356 (GRCm39) G171D probably benign Het
Otud6b A T 4: 14,818,187 (GRCm39) M238K possibly damaging Het
Pcdhac2 G A 18: 37,279,476 (GRCm39) G819R probably benign Het
Pcdhac2 G T 18: 37,279,477 (GRCm39) G819V probably benign Het
Pcdhga12 T G 18: 37,901,132 (GRCm39) S655A probably damaging Het
Pkd1l3 A G 8: 110,356,842 (GRCm39) I756V probably benign Het
Plekhd1 T A 12: 80,767,364 (GRCm39) S251T probably damaging Het
Ppp2r1a A T 17: 21,179,249 (GRCm39) T96S probably benign Het
Qser1 A C 2: 104,620,039 (GRCm39) S258A possibly damaging Het
Rsph4a G A 10: 33,785,324 (GRCm39) A412T probably benign Het
Sanbr A T 11: 23,556,759 (GRCm39) L407H probably damaging Het
Sass6 T A 3: 116,401,135 (GRCm39) C159S probably benign Het
Scaf4 T C 16: 90,048,848 (GRCm39) Q322R unknown Het
Sema6d C T 2: 124,498,821 (GRCm39) H244Y probably damaging Het
Sigirr T G 7: 140,672,632 (GRCm39) L163F probably damaging Het
Spata31d1c C A 13: 65,183,078 (GRCm39) L207I possibly damaging Het
Tacstd2 A G 6: 67,512,033 (GRCm39) F220L probably damaging Het
Tdpoz4 A T 3: 93,704,806 (GRCm39) T368S probably benign Het
Tnxb C A 17: 34,902,392 (GRCm39) Q1082K probably damaging Het
Trim41 GCCTAGGCGCCCA G 11: 48,698,192 (GRCm39) probably benign Het
Trpm6 C T 19: 18,807,297 (GRCm39) R1014C probably damaging Het
Ugt1a10 TTCATCA TTCA 1: 88,143,880 (GRCm39) probably benign Het
Vmn2r114 ATTT ATT 17: 23,509,906 (GRCm39) probably null Het
Vmn2r61 T A 7: 41,916,677 (GRCm39) M430K probably benign Het
Vmn2r61 A G 7: 41,949,917 (GRCm39) E779G probably damaging Het
Zfp599 T C 9: 22,165,165 (GRCm39) D70G probably benign Het
Zmym1 A T 4: 126,943,191 (GRCm39) I301N 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
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'- TGGAACAGAAAGCATAGTACCCTTC -3'
(R):5'- GGTCATATAATCTAACTCCATCTGAGG -3'

Sequencing Primer
(F):5'- CAGAAAGCATAGTACCCTTCATTTTC -3'
(R):5'- CTGCTCACTAGTTGGAGGATCAAC -3'
Posted On 2016-10-26