Incidental Mutation 'R6324:Arhgef4'
ID 510629
Institutional Source Beutler Lab
Gene Symbol Arhgef4
Ensembl Gene ENSMUSG00000037509
Gene Name Rho guanine nucleotide exchange factor 4
Synonyms Asef, 9330140K16Rik, C230030N03Rik
MMRRC Submission 044478-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6324 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 34762558 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 605 (A605T)
Ref Sequence ENSEMBL: ENSMUSP00000124213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159747]
AlphaFold Q7TNR9
Predicted Effect unknown
Transcript: ENSMUST00000159747
AA Change: A605T
SMART Domains Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: A605T

DomainStartEndE-ValueType
low complexity region 15 28 N/A INTRINSIC
low complexity region 573 584 N/A INTRINSIC
low complexity region 686 712 N/A INTRINSIC
low complexity region 915 926 N/A INTRINSIC
low complexity region 1119 1137 N/A INTRINSIC
low complexity region 1240 1254 N/A INTRINSIC
SH3 1361 1416 3.73e-16 SMART
RhoGEF 1453 1632 3.86e-56 SMART
PH 1665 1773 2.33e-14 SMART
Meta Mutation Damage Score 0.0756 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 96% (47/49)
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 protein encoded by this gene may form complex with G proteins and stimulate Rho-dependent signals. Multiple alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of some variants has not been determined. [provided by RefSeq, Jun 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit decreased angiogenesis, vascular endothelial cell migration, tumor growth, and tumor vascularization. [provided by MGI curators]
Allele List at MGI

All alleles(1) : Targeted, other(1)

Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp13a3 A G 16: 30,151,103 (GRCm39) V1069A possibly damaging Het
Atp1a2 C G 1: 172,116,903 (GRCm39) R238P probably damaging Het
Baz2b A G 2: 59,737,292 (GRCm39) S1877P probably damaging Het
Ccdc27 A T 4: 154,120,648 (GRCm39) S383T probably benign Het
Cr1l A G 1: 194,793,430 (GRCm39) V377A probably benign Het
Dazap1 A G 10: 80,113,494 (GRCm39) E130G probably benign Het
Dchs1 G T 7: 105,414,145 (GRCm39) A890E probably benign Het
Dock10 G A 1: 80,482,893 (GRCm39) T2143I probably benign Het
Eif3j1 A G 2: 121,871,659 (GRCm39) D60G probably benign Het
Enah A G 1: 181,746,136 (GRCm39) S382P probably damaging Het
Fam171b A T 2: 83,709,608 (GRCm39) K427* probably null Het
Fmn2 A T 1: 174,440,119 (GRCm39) I1179L possibly damaging Het
Focad C T 4: 88,319,305 (GRCm39) R1505* probably null Het
Frem1 T C 4: 82,901,574 (GRCm39) T985A probably benign Het
Gm3404 A T 5: 146,464,917 (GRCm39) Q219L possibly damaging Het
Gm5592 A C 7: 40,935,959 (GRCm39) S154R probably damaging Het
Gpn3 C T 5: 122,510,638 (GRCm39) probably benign Het
Gpr158 A G 2: 21,815,365 (GRCm39) E586G probably damaging Het
Gstp2 A T 19: 4,090,499 (GRCm39) I162N probably benign Het
Lin7a T A 10: 107,216,076 (GRCm39) probably null Het
Loxl4 G A 19: 42,583,817 (GRCm39) L745F probably benign Het
Ms4a19 T A 19: 11,140,811 (GRCm39) M3L probably benign Het
Mybpc1 A G 10: 88,404,481 (GRCm39) I172T possibly damaging Het
Nalcn A G 14: 123,647,161 (GRCm39) W571R possibly damaging Het
Nkx2-5 G C 17: 27,060,095 (GRCm39) P79A probably benign Het
Nufip2 A G 11: 77,582,487 (GRCm39) T134A probably benign Het
Odad1 A G 7: 45,591,134 (GRCm39) E203G probably damaging Het
Or13p4 G A 4: 118,547,728 (GRCm39) probably benign Het
Or5al1 C T 2: 85,989,800 (GRCm39) V305I probably benign Het
Or5b109 A G 19: 13,212,468 (GRCm39) M285V possibly damaging Het
Phkb A G 8: 86,745,171 (GRCm39) D616G probably benign Het
Plch1 C T 3: 63,688,811 (GRCm39) W131* probably null Het
Prl7b1 A T 13: 27,786,878 (GRCm39) probably null Het
Prop1 G A 11: 50,843,026 (GRCm39) P54S probably benign Het
Ptcd3 C T 6: 71,862,311 (GRCm39) V509I probably benign Het
Ptprg T A 14: 12,226,314 (GRCm38) D527E probably damaging Het
Rapgef2 C T 3: 78,986,439 (GRCm39) V1182I probably benign Het
Rfx7 C A 9: 72,525,696 (GRCm39) P962Q probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc38a9 A G 13: 112,862,634 (GRCm39) I444M probably benign Het
Sorbs1 T C 19: 40,310,263 (GRCm39) T492A probably damaging Het
Synj1 A T 16: 90,735,518 (GRCm39) S1478R probably benign Het
Tnn T A 1: 159,972,774 (GRCm39) N276I probably damaging Het
Trbv19 G A 6: 41,155,692 (GRCm39) G21D probably damaging Het
Ube2o A T 11: 116,430,185 (GRCm39) D1184E probably benign Het
Vmn1r181 G A 7: 23,684,183 (GRCm39) R216Q probably benign Het
Vmn2r108 A T 17: 20,691,977 (GRCm39) L182* probably null Het
Vmn2r15 A G 5: 109,434,137 (GRCm39) *856R probably null Het
Vmn2r70 G A 7: 85,208,087 (GRCm39) H797Y probably benign Het
Zfp11 C T 5: 129,733,587 (GRCm39) A625T possibly damaging Het
Other mutations in Arhgef4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00896:Arhgef4 APN 1 34,850,777 (GRCm39) missense possibly damaging 0.88
IGL02376:Arhgef4 APN 1 34,845,140 (GRCm39) missense probably damaging 1.00
IGL02604:Arhgef4 APN 1 34,850,804 (GRCm39) nonsense probably null
IGL03240:Arhgef4 APN 1 34,845,107 (GRCm39) missense probably benign 0.03
BB004:Arhgef4 UTSW 1 34,846,334 (GRCm39) missense probably damaging 1.00
BB014:Arhgef4 UTSW 1 34,846,334 (GRCm39) missense probably damaging 1.00
R0095:Arhgef4 UTSW 1 34,771,451 (GRCm39) nonsense probably null
R0157:Arhgef4 UTSW 1 34,845,475 (GRCm39) missense probably damaging 1.00
R0243:Arhgef4 UTSW 1 34,846,080 (GRCm39) splice site probably null
R0383:Arhgef4 UTSW 1 34,849,614 (GRCm39) missense probably damaging 1.00
R0440:Arhgef4 UTSW 1 34,784,529 (GRCm39) splice site probably null
R0452:Arhgef4 UTSW 1 34,771,403 (GRCm39) missense probably damaging 0.97
R0893:Arhgef4 UTSW 1 34,846,191 (GRCm39) missense probably damaging 1.00
R1429:Arhgef4 UTSW 1 34,849,420 (GRCm39) missense probably damaging 1.00
R1437:Arhgef4 UTSW 1 34,763,026 (GRCm39) missense unknown
R1669:Arhgef4 UTSW 1 34,771,239 (GRCm39) missense possibly damaging 0.86
R1780:Arhgef4 UTSW 1 34,763,241 (GRCm39) missense possibly damaging 0.73
R1809:Arhgef4 UTSW 1 34,849,636 (GRCm39) critical splice donor site probably null
R1879:Arhgef4 UTSW 1 34,761,521 (GRCm39) missense unknown
R1908:Arhgef4 UTSW 1 34,763,340 (GRCm39) missense probably benign 0.01
R1919:Arhgef4 UTSW 1 34,850,221 (GRCm39) missense probably damaging 0.98
R2020:Arhgef4 UTSW 1 34,762,891 (GRCm39) missense unknown
R2058:Arhgef4 UTSW 1 34,761,458 (GRCm39) missense unknown
R2213:Arhgef4 UTSW 1 34,846,230 (GRCm39) splice site probably null
R2851:Arhgef4 UTSW 1 34,763,129 (GRCm39) missense unknown
R2852:Arhgef4 UTSW 1 34,763,129 (GRCm39) missense unknown
R2853:Arhgef4 UTSW 1 34,763,129 (GRCm39) missense unknown
R3697:Arhgef4 UTSW 1 34,761,521 (GRCm39) missense unknown
R4012:Arhgef4 UTSW 1 34,764,187 (GRCm39) missense possibly damaging 0.75
R4118:Arhgef4 UTSW 1 34,771,428 (GRCm39) missense probably damaging 0.98
R4133:Arhgef4 UTSW 1 34,845,185 (GRCm39) missense probably damaging 1.00
R4534:Arhgef4 UTSW 1 34,762,162 (GRCm39) missense unknown
R4535:Arhgef4 UTSW 1 34,762,162 (GRCm39) missense unknown
R4581:Arhgef4 UTSW 1 34,771,205 (GRCm39) missense possibly damaging 0.83
R4665:Arhgef4 UTSW 1 34,845,113 (GRCm39) missense possibly damaging 0.89
R4678:Arhgef4 UTSW 1 34,761,749 (GRCm39) missense unknown
R4684:Arhgef4 UTSW 1 34,850,866 (GRCm39) splice site probably null
R4706:Arhgef4 UTSW 1 34,771,298 (GRCm39) missense probably benign 0.00
R4745:Arhgef4 UTSW 1 34,846,356 (GRCm39) missense probably damaging 1.00
R4747:Arhgef4 UTSW 1 34,762,355 (GRCm39) missense unknown
R4988:Arhgef4 UTSW 1 34,762,535 (GRCm39) missense unknown
R5063:Arhgef4 UTSW 1 34,763,296 (GRCm39) missense probably benign 0.00
R5154:Arhgef4 UTSW 1 34,771,455 (GRCm39) missense probably benign 0.43
R5156:Arhgef4 UTSW 1 34,762,355 (GRCm39) missense unknown
R5263:Arhgef4 UTSW 1 34,764,078 (GRCm39) missense possibly damaging 0.84
R5450:Arhgef4 UTSW 1 34,846,405 (GRCm39) intron probably benign
R5807:Arhgef4 UTSW 1 34,846,696 (GRCm39) intron probably benign
R5863:Arhgef4 UTSW 1 34,761,926 (GRCm39) missense unknown
R6034:Arhgef4 UTSW 1 34,760,984 (GRCm39) missense unknown
R6034:Arhgef4 UTSW 1 34,760,984 (GRCm39) missense unknown
R6311:Arhgef4 UTSW 1 34,763,062 (GRCm39) missense unknown
R6315:Arhgef4 UTSW 1 34,762,558 (GRCm39) missense unknown
R6316:Arhgef4 UTSW 1 34,762,558 (GRCm39) missense unknown
R6318:Arhgef4 UTSW 1 34,762,558 (GRCm39) missense unknown
R6323:Arhgef4 UTSW 1 34,762,558 (GRCm39) missense unknown
R6325:Arhgef4 UTSW 1 34,762,558 (GRCm39) missense unknown
R6340:Arhgef4 UTSW 1 34,771,304 (GRCm39) missense probably damaging 1.00
R6835:Arhgef4 UTSW 1 34,845,574 (GRCm39) missense probably damaging 1.00
R6981:Arhgef4 UTSW 1 34,761,533 (GRCm39) missense unknown
R7087:Arhgef4 UTSW 1 34,850,767 (GRCm39) missense probably damaging 0.96
R7297:Arhgef4 UTSW 1 34,846,273 (GRCm39) missense probably damaging 1.00
R7525:Arhgef4 UTSW 1 34,848,785 (GRCm39) missense probably damaging 1.00
R7614:Arhgef4 UTSW 1 34,771,316 (GRCm39) missense possibly damaging 0.67
R7693:Arhgef4 UTSW 1 34,763,222 (GRCm39) missense probably benign 0.01
R7892:Arhgef4 UTSW 1 34,760,885 (GRCm39) missense unknown
R7895:Arhgef4 UTSW 1 34,845,478 (GRCm39) missense probably damaging 1.00
R7927:Arhgef4 UTSW 1 34,846,334 (GRCm39) missense probably damaging 1.00
R7965:Arhgef4 UTSW 1 34,850,762 (GRCm39) missense probably benign
R7973:Arhgef4 UTSW 1 34,763,518 (GRCm39) missense possibly damaging 0.83
R7979:Arhgef4 UTSW 1 34,760,978 (GRCm39) missense unknown
R8160:Arhgef4 UTSW 1 34,762,655 (GRCm39) missense unknown
R8175:Arhgef4 UTSW 1 34,849,455 (GRCm39) missense probably benign
R8178:Arhgef4 UTSW 1 34,761,983 (GRCm39) missense unknown
R9046:Arhgef4 UTSW 1 34,850,846 (GRCm39) missense possibly damaging 0.92
R9077:Arhgef4 UTSW 1 34,760,824 (GRCm39) missense unknown
R9209:Arhgef4 UTSW 1 34,849,576 (GRCm39) missense probably benign
R9209:Arhgef4 UTSW 1 34,764,241 (GRCm39) critical splice donor site probably null
R9355:Arhgef4 UTSW 1 34,849,630 (GRCm39) missense probably benign 0.02
R9489:Arhgef4 UTSW 1 34,761,745 (GRCm39) missense unknown
R9509:Arhgef4 UTSW 1 34,762,772 (GRCm39) missense unknown
R9605:Arhgef4 UTSW 1 34,761,745 (GRCm39) missense unknown
R9665:Arhgef4 UTSW 1 34,849,518 (GRCm39) missense probably benign
R9675:Arhgef4 UTSW 1 34,845,108 (GRCm39) missense probably benign
R9790:Arhgef4 UTSW 1 34,832,445 (GRCm39) critical splice donor site probably null
R9791:Arhgef4 UTSW 1 34,832,445 (GRCm39) critical splice donor site probably null
RF012:Arhgef4 UTSW 1 34,763,565 (GRCm39) small deletion probably benign
X0062:Arhgef4 UTSW 1 34,763,308 (GRCm39) missense probably benign 0.35
YA93:Arhgef4 UTSW 1 34,771,298 (GRCm39) missense probably benign 0.00
Z1176:Arhgef4 UTSW 1 34,844,007 (GRCm39) missense probably damaging 1.00
Z1176:Arhgef4 UTSW 1 34,762,810 (GRCm39) missense unknown
Z1177:Arhgef4 UTSW 1 34,763,340 (GRCm39) missense probably benign 0.01
Z1177:Arhgef4 UTSW 1 34,762,447 (GRCm39) missense unknown
Z1177:Arhgef4 UTSW 1 34,762,002 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- AAGGCCTTGCAAAGTCTTTTGG -3'
(R):5'- TAGAGACTGGCACTCTCACG -3'

Sequencing Primer
(F):5'- TTGGAAGTATCTCACCGC -3'
(R):5'- CACGTGCTCTATGCCTTGGG -3'
Posted On 2018-04-02