Incidental Mutation 'R1669:Arhgef4'
ID 187421
Institutional Source Beutler Lab
Gene Symbol Arhgef4
Ensembl Gene ENSMUSG00000037509
Gene Name Rho guanine nucleotide exchange factor 4
Synonyms Asef, 9330140K16Rik, C230030N03Rik
MMRRC Submission 039705-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1669 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34771239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 1182 (H1182L)
Ref Sequence ENSEMBL: ENSMUSP00000124213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159747] [ENSMUST00000162599]
AlphaFold Q7TNR9
Predicted Effect possibly damaging
Transcript: ENSMUST00000159747
AA Change: H1182L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: H1182L

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
Predicted Effect probably benign
Transcript: ENSMUST00000162599
AA Change: H15L

PolyPhen 2 Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: H15L

DomainStartEndE-ValueType
low complexity region 73 87 N/A INTRINSIC
SH3 194 249 3.73e-16 SMART
Pfam:RhoGEF 304 405 1.2e-25 PFAM
PH 438 546 2.33e-14 SMART
Meta Mutation Damage Score 0.0682 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.5%
  • 20x: 93.3%
Validation Efficiency 99% (85/86)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano10 A C 9: 122,086,249 (GRCm39) L258R possibly damaging Het
Ap3d1 A G 10: 80,546,670 (GRCm39) probably benign Het
Aplp2 G T 9: 31,079,029 (GRCm39) probably benign Het
Arhgap11a T C 2: 113,672,257 (GRCm39) D237G possibly damaging Het
Ash1l G A 3: 88,974,549 (GRCm39) probably null Het
Bicdl1 C A 5: 115,794,075 (GRCm39) V224L possibly damaging Het
Cacna1h C A 17: 25,602,445 (GRCm39) V1422L probably damaging Het
Card10 T C 15: 78,678,153 (GRCm39) E365G probably benign Het
Cd180 C T 13: 102,841,998 (GRCm39) T348I probably damaging Het
Cds2 T A 2: 132,137,439 (GRCm39) probably null Het
Chaf1a C A 17: 56,370,339 (GRCm39) D601E probably benign Het
Coprs C T 8: 13,935,704 (GRCm39) W12* probably null Het
Cpsf3 T A 12: 21,355,332 (GRCm39) M424K probably damaging Het
Cxcl13 T A 5: 96,106,600 (GRCm39) N57K probably damaging Het
Dact1 C T 12: 71,365,547 (GRCm39) T776M probably damaging Het
Depdc1a A G 3: 159,228,561 (GRCm39) K438E probably benign Het
Dop1b T A 16: 93,566,548 (GRCm39) S992T probably damaging Het
Dusp11 A T 6: 85,927,008 (GRCm39) H202Q probably benign Het
Ezr T C 17: 7,006,712 (GRCm39) E584G probably damaging Het
F830104G03Rik A G 3: 56,797,998 (GRCm39) V6A unknown Het
Fam227a G A 15: 79,504,878 (GRCm39) probably null Het
Gapvd1 T G 2: 34,620,694 (GRCm39) probably null Het
Gm10267 T C 18: 44,290,367 (GRCm39) R47G probably damaging Het
Hectd3 T A 4: 116,856,840 (GRCm39) D462E probably damaging Het
Hfe A T 13: 23,890,110 (GRCm39) L133* probably null Het
Hpcal4 T C 4: 123,082,869 (GRCm39) F72L probably damaging Het
Itgb4 G A 11: 115,882,156 (GRCm39) R825H probably benign Het
Kcnh8 T A 17: 53,200,996 (GRCm39) Y477N probably damaging Het
Kctd1 T C 18: 15,195,517 (GRCm39) N369D possibly damaging Het
Kdm1b C T 13: 47,222,024 (GRCm39) R488C probably damaging Het
Kif1c C T 11: 70,619,223 (GRCm39) L953F probably damaging Het
Klra8 A T 6: 130,092,592 (GRCm39) C236* probably null Het
Lca5l T C 16: 95,961,008 (GRCm39) R485G possibly damaging Het
Lrrc2 A G 9: 110,810,718 (GRCm39) T363A probably damaging Het
Lsmem1 GTACATACATACATACATACATACATACA GTACATACATACATACATACATACATACATACA 12: 40,235,260 (GRCm39) probably null Het
Lyst G A 13: 13,818,672 (GRCm39) G1314D possibly damaging Het
Mmp10 A T 9: 7,505,526 (GRCm39) probably null Het
Mmp13 A G 9: 7,277,926 (GRCm39) D273G probably benign Het
Morc2a G A 11: 3,625,885 (GRCm39) V162M probably benign Het
Msh4 C T 3: 153,582,357 (GRCm39) R417Q possibly damaging Het
Nedd9 A T 13: 41,465,270 (GRCm39) V790E probably damaging Het
Nlgn1 C A 3: 25,490,298 (GRCm39) L476F probably damaging Het
Nox4 C A 7: 86,945,097 (GRCm39) Q118K probably benign Het
Nxf1 A G 19: 8,749,495 (GRCm39) T131A possibly damaging Het
Oog3 C A 4: 143,885,008 (GRCm39) R309S probably benign Het
Oosp3 C T 19: 11,678,378 (GRCm39) probably benign Het
Or10a3 T A 7: 108,479,920 (GRCm39) T298S probably benign Het
Or2a7 T A 6: 43,151,755 (GRCm39) S278R probably damaging Het
Or2w6 A T 13: 21,843,456 (GRCm39) S12R possibly damaging Het
Or4c126 T A 2: 89,824,144 (GRCm39) probably null Het
Or51a42 A T 7: 103,708,516 (GRCm39) S98T probably benign Het
Or5b97 A T 19: 12,878,652 (GRCm39) I164K possibly damaging Het
P2ry6 A G 7: 100,587,630 (GRCm39) V243A probably damaging Het
Pgc C A 17: 48,044,715 (GRCm39) P321T probably damaging Het
Pramel22 T G 4: 143,380,916 (GRCm39) E369A possibly damaging Het
Prkd1 G A 12: 50,441,709 (GRCm39) H277Y probably damaging Het
Prkdc T A 16: 15,551,922 (GRCm39) S2043T probably damaging Het
Rasal3 T C 17: 32,622,072 (GRCm39) N96D possibly damaging Het
Rnf4 T C 5: 34,508,624 (GRCm39) F162S probably damaging Het
Ros1 A T 10: 52,037,907 (GRCm39) N421K probably damaging Het
Rtn4rl1 A G 11: 75,156,753 (GRCm39) D395G probably benign Het
Scn8a T G 15: 100,909,001 (GRCm39) V823G probably damaging Het
Sema3d T A 5: 12,558,051 (GRCm39) probably benign Het
Slc12a2 T C 18: 58,037,307 (GRCm39) I501T probably damaging Het
Slc12a7 C T 13: 73,943,232 (GRCm39) T382I probably benign Het
Slc16a12 T A 19: 34,657,781 (GRCm39) I41L probably benign Het
Slc1a1 C A 19: 28,889,194 (GRCm39) T489K probably benign Het
Slc24a3 C T 2: 145,455,512 (GRCm39) P467L probably damaging Het
Slco1a8 T A 6: 141,933,415 (GRCm39) I457F probably benign Het
Snai2 A T 16: 14,524,908 (GRCm39) Y138F possibly damaging Het
Sorcs1 A C 19: 50,463,860 (GRCm39) Y197D probably damaging Het
Sppl2a T A 2: 126,759,714 (GRCm39) probably benign Het
Srgap3 G A 6: 112,699,865 (GRCm39) P1038S probably benign Het
Ttn T C 2: 76,554,807 (GRCm39) E30699G probably damaging Het
Vmn2r124 T A 17: 18,283,206 (GRCm39) M300K possibly damaging Het
Vwf T C 6: 125,624,869 (GRCm39) S1873P possibly damaging Het
Wrap73 A G 4: 154,240,588 (GRCm39) D360G probably damaging Het
Zfp366 T C 13: 99,366,069 (GRCm39) M410T probably damaging Het
Zfp608 C T 18: 55,120,811 (GRCm39) V259I probably benign Het
Zfp69 C T 4: 120,804,695 (GRCm39) probably benign Het
Zfp995 T C 17: 22,098,945 (GRCm39) T430A probably benign 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
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
R6324: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'- TCGGCCCTTGACCAAATCAGAAG -3'
(R):5'- TGTCATCGAAGCTGAAGTGTGAGTG -3'

Sequencing Primer
(F):5'- CGAAATGGCTGTGAATGAAGTATCTC -3'
(R):5'- AAGCTGAAGTGTGAGTGTTGAG -3'
Posted On 2014-05-09