Incidental Mutation 'R9046:Arhgef4'
ID 688022
Institutional Source Beutler Lab
Gene Symbol Arhgef4
Ensembl Gene ENSMUSG00000037509
Gene Name Rho guanine nucleotide exchange factor 4
Synonyms Asef, 9330140K16Rik, C230030N03Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9046 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34850846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 464 (E464G)
Ref Sequence ENSEMBL: ENSMUSP00000035980 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047534] [ENSMUST00000047664] [ENSMUST00000159021] [ENSMUST00000159747] [ENSMUST00000160855] [ENSMUST00000162599] [ENSMUST00000167518]
AlphaFold Q7TNR9
Predicted Effect probably benign
Transcript: ENSMUST00000047534
SMART Domains Protein: ENSMUSP00000042212
Gene: ENSMUSG00000037503

DomainStartEndE-ValueType
Pfam:TCRP1 1 194 1e-108 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000047664
AA Change: E464G

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509
AA Change: E464G

DomainStartEndE-ValueType
SH3 1 45 6.97e-7 SMART
RhoGEF 82 261 3.86e-56 SMART
PH 294 402 2.33e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000159021
SMART Domains Protein: ENSMUSP00000124467
Gene: ENSMUSG00000037509

DomainStartEndE-ValueType
SH3 1 45 6.97e-7 SMART
Pfam:RhoGEF 82 190 3.4e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159747
AA Change: E1835G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: E1835G

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: ENSMUST00000160855
SMART Domains Protein: ENSMUSP00000124207
Gene: ENSMUSG00000037509

DomainStartEndE-ValueType
SH3 1 45 6.97e-7 SMART
Pfam:RhoGEF 82 187 1.2e-21 PFAM
low complexity region 194 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000162599
AA Change: E608G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: E608G

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
Predicted Effect probably benign
Transcript: ENSMUST00000167518
SMART Domains Protein: ENSMUSP00000131720
Gene: ENSMUSG00000037503

DomainStartEndE-ValueType
Pfam:TCRP1 1 62 3.3e-26 PFAM
Pfam:TCRP1 54 206 1.1e-89 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 99% (66/67)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,243,525 (GRCm39) V1796A probably benign Het
Abca3 A G 17: 24,617,477 (GRCm39) D1058G probably damaging Het
Adgrg6 A G 10: 14,323,858 (GRCm39) V431A probably benign Het
Amdhd1 C T 10: 93,363,087 (GRCm39) D334N probably damaging Het
Ankrd50 A T 3: 38,506,642 (GRCm39) M252K probably benign Het
Anxa3 G A 5: 96,976,626 (GRCm39) R204Q probably damaging Het
Apmap T C 2: 150,426,093 (GRCm39) T352A probably benign Het
Atp11b T A 3: 35,852,740 (GRCm39) probably benign Het
Brwd1 T A 16: 95,829,402 (GRCm39) S1100C probably damaging Het
Ccm2l T A 2: 152,916,720 (GRCm39) I317N probably damaging Het
Ccr9 C T 9: 123,608,831 (GRCm39) T171I probably benign Het
Cdh23 A T 10: 60,218,303 (GRCm39) probably benign Het
Dact1 A G 12: 71,365,534 (GRCm39) I735V probably benign Het
Dok6 C A 18: 89,787,221 (GRCm39) V14L probably benign Het
Dthd1 A T 5: 62,984,603 (GRCm39) Y436F possibly damaging Het
Fndc9 G T 11: 46,128,889 (GRCm39) W136L probably damaging Het
Gal3st1 G A 11: 3,948,278 (GRCm39) V162I probably benign Het
Gart A G 16: 91,418,561 (GRCm39) S973P probably damaging Het
H2-T5 A T 17: 36,476,035 (GRCm39) probably null Het
Hsp90ab1 G A 17: 45,879,969 (GRCm39) P516S probably damaging Het
Htr1a G C 13: 105,581,816 (GRCm39) G352A probably damaging Het
Hycc2 T C 1: 58,568,945 (GRCm39) T545A probably damaging Het
Isg20 A T 7: 78,569,823 (GRCm39) R265* probably null Het
Kcmf1 C T 6: 72,825,455 (GRCm39) A213T probably damaging Het
Kdm3a A G 6: 71,572,540 (GRCm39) V1007A probably damaging Het
Klhl25 A G 7: 75,515,337 (GRCm39) E81G probably damaging Het
Klhl6 C A 16: 19,765,803 (GRCm39) V600F probably damaging Het
Kmt2b A G 7: 30,285,479 (GRCm39) V471A probably benign Het
Lap3 A G 5: 45,652,562 (GRCm39) T53A probably damaging Het
Lmntd1 A T 6: 145,365,565 (GRCm39) I188N probably damaging Het
Lrba A G 3: 86,302,543 (GRCm39) I1868V possibly damaging Het
Mef2d A T 3: 88,074,825 (GRCm39) Y337F probably benign Het
Mgat4e T C 1: 134,474,742 (GRCm39) T7A possibly damaging Het
Myo3a G T 2: 22,448,367 (GRCm39) L985F probably damaging Het
Myof T C 19: 37,923,112 (GRCm39) probably benign Het
Ncapg2 G A 12: 116,376,145 (GRCm39) G77S probably benign Het
Nostrin G T 2: 68,975,123 (GRCm39) V13L probably benign Het
Nup155 TGGG TGG 15: 8,157,919 (GRCm39) probably null Het
Or14j6 A G 17: 38,215,145 (GRCm39) K236R probably damaging Het
Or3a10 T C 11: 73,935,284 (GRCm39) D272G probably damaging Het
Or4a75 C T 2: 89,448,496 (GRCm39) probably benign Het
Or5b101 T C 19: 13,005,115 (GRCm39) N193D probably benign Het
Parp4 A C 14: 56,864,927 (GRCm39) K1025T probably damaging Het
Parvb T C 15: 84,174,639 (GRCm39) I144T probably benign Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Phf10 A G 17: 15,175,160 (GRCm39) V195A probably damaging Het
Prpf18 A T 2: 4,640,464 (GRCm39) M257K possibly damaging Het
Ptcd3 A T 6: 71,870,364 (GRCm39) probably null Het
Ptprt G A 2: 161,372,361 (GRCm39) T1437M possibly damaging Het
Ptx3 T C 3: 66,132,153 (GRCm39) F225L probably damaging Het
Rpl3l A G 17: 24,947,435 (GRCm39) K50E probably damaging Het
Rubcn T C 16: 32,661,940 (GRCm39) N427D probably benign Het
Serpinb8 G A 1: 107,530,563 (GRCm39) A114T possibly damaging Het
Sgsm1 A G 5: 113,436,725 (GRCm39) V35A probably damaging Het
Slc22a2 G A 17: 12,834,234 (GRCm39) A501T probably null Het
Slu7 G A 11: 43,335,629 (GRCm39) C455Y probably damaging Het
Src C A 2: 157,307,795 (GRCm39) H235N probably damaging Het
Svopl T A 6: 37,998,531 (GRCm39) M248L probably benign Het
Tbx6 G A 7: 126,381,120 (GRCm39) probably null Het
Tprg1l A T 4: 154,242,913 (GRCm39) I239N probably damaging Het
Trafd1 A G 5: 121,513,189 (GRCm39) F350L probably benign Het
Trpv3 A G 11: 73,176,698 (GRCm39) Y359C probably damaging Het
Vmn1r46 T C 6: 89,953,585 (GRCm39) S145P probably damaging Het
Vmn2r11 A T 5: 109,202,850 (GRCm39) F76I probably benign Het
Xpot A T 10: 121,432,149 (GRCm39) C916* probably null Het
Zfp236 C T 18: 82,637,042 (GRCm39) E1415K 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
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
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'- AGGAAGCAAGTCCTGTGTG -3'
(R):5'- AGACTTCATACAGCATGACGC -3'

Sequencing Primer
(F):5'- AAGCAAGTCCTGTGTGGCTACTAC -3'
(R):5'- ATGACGCTGTGCCTGTTCAC -3'
Posted On 2021-11-19