Incidental Mutation 'R9790:Arhgef4'
ID 735847
Institutional Source Beutler Lab
Gene Symbol Arhgef4
Ensembl Gene ENSMUSG00000037509
Gene Name Rho guanine nucleotide exchange factor 4
Synonyms Asef, 9330140K16Rik, C230030N03Rik
MMRRC Submission
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9790 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 34832445 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159021] [ENSMUST00000159747] [ENSMUST00000162599]
AlphaFold Q7TNR9
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 null
Transcript: ENSMUST00000159747
SMART Domains Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509

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
SMART Domains Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.8%
  • 10x: 99.3%
  • 20x: 98.4%
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 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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a T C 5: 8,748,604 (GRCm39) Y312H probably damaging Het
Abcc10 A T 17: 46,633,185 (GRCm39) I549N probably damaging Het
Agpat2 A G 2: 26,486,395 (GRCm39) Y134H probably damaging Het
Alms1 A G 6: 85,596,425 (GRCm39) D417G probably benign Het
Apol11b T A 15: 77,519,475 (GRCm39) I202F probably benign Het
Arap1 C A 7: 101,037,376 (GRCm39) Q468K probably benign Het
Asap3 A T 4: 135,961,914 (GRCm39) N285I probably damaging Het
Aspm A T 1: 139,408,375 (GRCm39) I2421F probably damaging Het
Banp C A 8: 122,701,285 (GRCm39) D17E probably benign Het
Bsx T G 9: 40,788,905 (GRCm39) V154G probably damaging Het
Cacnb1 T C 11: 97,900,186 (GRCm39) D324G probably damaging Het
Ccdc170 A T 10: 4,483,957 (GRCm39) probably null Het
Ccdc187 T C 2: 26,171,227 (GRCm39) H417R probably benign Het
Cct4 T A 11: 22,949,070 (GRCm39) M272K probably damaging Het
Chd9 A G 8: 91,760,417 (GRCm39) E2054G possibly damaging Het
Ctnnal1 A T 4: 56,844,584 (GRCm39) S127T possibly damaging Het
Cttnbp2 T A 6: 18,376,027 (GRCm39) H1504L probably benign Het
Cyp4a29 T A 4: 115,108,380 (GRCm39) M368K probably damaging Het
Dhx32 A G 7: 133,326,267 (GRCm39) F527L probably benign Het
Foxk1 T C 5: 142,387,739 (GRCm39) V154A probably damaging Het
Frem3 G A 8: 81,339,890 (GRCm39) E728K probably benign Het
Garem2 C A 5: 30,319,747 (GRCm39) A403E probably benign Het
Gemin5 G A 11: 58,020,846 (GRCm39) Q1114* probably null Het
Gm11567 C T 11: 99,770,274 (GRCm39) R71C unknown Het
Gm13272 T C 4: 88,698,442 (GRCm39) V119A probably benign Het
Gpc6 T A 14: 117,163,435 (GRCm39) C30S probably damaging Het
Gprc6a A C 10: 51,491,395 (GRCm39) F785V probably damaging Het
Hormad1 T C 3: 95,494,693 (GRCm39) V368A probably benign Het
Hsd17b4 G A 18: 50,324,907 (GRCm39) probably null Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Il17ra C T 6: 120,459,240 (GRCm39) S797F probably damaging Het
Jmjd6 A G 11: 116,733,438 (GRCm39) S80P probably benign Het
Klhdc2 T A 12: 69,346,995 (GRCm39) N53K probably benign Het
Klhl30 C T 1: 91,282,089 (GRCm39) P230L probably benign Het
Marchf1 C A 8: 66,729,339 (GRCm39) A46E probably benign Het
Mast4 T C 13: 102,890,705 (GRCm39) T1050A probably benign Het
Mpp7 T C 18: 7,355,049 (GRCm39) N459S probably benign Het
Mtfr1l A G 4: 134,258,063 (GRCm39) V53A probably benign Het
Myh11 T A 16: 14,025,992 (GRCm39) E1326V Het
Myh3 A G 11: 66,992,005 (GRCm39) E1850G probably damaging Het
Myo16 A G 8: 10,619,925 (GRCm39) D1492G unknown Het
Myo3b C A 2: 70,180,287 (GRCm39) H1219Q probably benign Het
Nphp4 A T 4: 152,646,605 (GRCm39) Q1379L probably null Het
Or8g30 C T 9: 39,230,815 (GRCm39) V32I probably benign Het
Or9q1 A G 19: 13,804,914 (GRCm39) I282T probably benign Het
Osbpl6 T G 2: 76,385,361 (GRCm39) L265R probably damaging Het
Pld4 A G 12: 112,734,862 (GRCm39) T440A probably damaging Het
Prr14 T C 7: 127,071,128 (GRCm39) M1T probably null Het
Ptger4 A T 15: 5,273,178 (GRCm39) M1K probably null Het
Ptpn22 A T 3: 103,795,842 (GRCm39) T608S possibly damaging Het
S1pr2 A G 9: 20,879,319 (GRCm39) W170R probably damaging Het
Specc1l A G 10: 75,066,603 (GRCm39) I17M probably benign Het
Spmap1 T A 11: 97,666,594 (GRCm39) I31F probably benign Het
Sptbn4 C G 7: 27,071,662 (GRCm39) G1601R probably damaging Het
Sqor C T 2: 122,626,912 (GRCm39) P11L probably benign Het
Stac2 T C 11: 97,934,449 (GRCm39) D85G probably benign Het
Svs5 G A 2: 164,078,918 (GRCm39) Q330* probably null Het
Taar7e A G 10: 23,913,554 (GRCm39) I15V probably benign Het
Tcf4 A T 18: 69,770,007 (GRCm39) Y275F probably damaging Het
Tenm4 A G 7: 96,538,046 (GRCm39) N1873S probably damaging Het
Tert T A 13: 73,775,648 (GRCm39) V133D probably benign Het
Tfap2a T A 13: 40,870,658 (GRCm39) N410I probably damaging Het
Tjp3 A T 10: 81,109,694 (GRCm39) D836E probably benign Het
Tox3 A T 8: 90,975,206 (GRCm39) M475K unknown Het
Traf4 A T 11: 78,050,979 (GRCm39) D392E probably damaging Het
Vav2 A G 2: 27,181,825 (GRCm39) L338P probably damaging Het
Vmn1r81 T C 7: 11,994,113 (GRCm39) N165S probably benign Het
Vmn2r9 A T 5: 108,995,409 (GRCm39) V413E probably damaging Het
Wdr7 A T 18: 63,911,059 (GRCm39) D817V probably damaging Het
Zbtb38 G A 9: 96,570,700 (GRCm39) S128L probably damaging Het
Zfhx4 T A 3: 5,464,922 (GRCm39) H1718Q probably damaging Het
Zfp945 G A 17: 23,071,228 (GRCm39) H245Y 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
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
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
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'- GCTGCTTCTATAATCGCCCAG -3'
(R):5'- TTCCTTAAACACACGGCGG -3'

Sequencing Primer
(F):5'- TTCGCCATGAGCTCAGC -3'
(R):5'- GGCGCTATATAAATGCCTCACGATG -3'
Posted On 2022-11-14