Incidental Mutation 'R1809:Arhgef4'
ID 203647
Institutional Source Beutler Lab
Gene Symbol Arhgef4
Ensembl Gene ENSMUSG00000037509
Gene Name Rho guanine nucleotide exchange factor 4
Synonyms Asef, 9330140K16Rik, C230030N03Rik
MMRRC Submission 039838-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1809 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 34849636 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124906 (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 probably null
Transcript: ENSMUST00000047664
SMART Domains Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509

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 noncoding transcript
Transcript: ENSMUST00000159059
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: 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 null
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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193040
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162760
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
Meta Mutation Damage Score 0.9488 question?
Coding Region Coverage
  • 1x: 97.5%
  • 3x: 96.8%
  • 10x: 94.9%
  • 20x: 91.2%
Validation Efficiency 96% (107/111)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim2 A G 5: 36,000,614 (GRCm39) probably benign Het
Adamts20 C T 15: 94,238,968 (GRCm39) S750N probably damaging Het
Adh6a G A 3: 138,036,722 (GRCm39) R370H possibly damaging Het
Akr1b7 A G 6: 34,396,046 (GRCm39) N183D probably damaging Het
Aktip A T 8: 91,856,348 (GRCm39) I43N probably damaging Het
Ankrd26 A T 6: 118,502,883 (GRCm39) probably benign Het
Ano9 G A 7: 140,688,717 (GRCm39) T144I possibly damaging Het
Anpep G T 7: 79,491,571 (GRCm39) D143E probably benign Het
Aox1 C A 1: 58,333,484 (GRCm39) Q234K probably benign Het
Ap1g1 C G 8: 110,559,814 (GRCm39) probably benign Het
Arsj A G 3: 126,231,944 (GRCm39) Y230C possibly damaging Het
Asmt C T X: 169,109,480 (GRCm39) probably benign Het
Astl A T 2: 127,187,405 (GRCm39) K72N probably damaging Het
Atp2b2 G A 6: 113,780,704 (GRCm39) probably benign Het
Baiap2l1 A C 5: 144,261,365 (GRCm39) probably null Het
C7 A T 15: 5,063,821 (GRCm39) N193K probably damaging Het
Cacna2d4 G T 6: 119,247,785 (GRCm39) R362L probably damaging Het
Cct4 T A 11: 22,947,615 (GRCm39) D189E probably benign Het
Cd300lg G A 11: 101,933,938 (GRCm39) G62S probably benign Het
Cdk14 T A 5: 5,060,901 (GRCm39) M307L probably damaging Het
Cfi G A 3: 129,666,768 (GRCm39) probably null Het
Clec2g G T 6: 128,957,273 (GRCm39) probably null Het
Cntnap2 T C 6: 46,965,609 (GRCm39) S807P probably damaging Het
Col6a3 T A 1: 90,755,671 (GRCm39) H206L probably damaging Het
Ct55 A G X: 52,735,716 (GRCm39) E99G probably benign Het
Cyp2c23 A T 19: 44,009,997 (GRCm39) probably benign Het
Degs1l T C 1: 180,887,252 (GRCm39) I279T probably damaging Het
Dlec1 T C 9: 118,965,767 (GRCm39) V1058A probably benign Het
Dpp9 A G 17: 56,506,038 (GRCm39) Y454H probably damaging Het
Drosha G A 15: 12,890,198 (GRCm39) G920R probably null Het
Duox2 A G 2: 122,114,378 (GRCm39) S1142P possibly damaging Het
Fam13a C T 6: 58,942,045 (GRCm39) probably null Het
Filip1l A G 16: 57,327,023 (GRCm39) R18G probably benign Het
Foxa1 A G 12: 57,589,527 (GRCm39) V231A probably damaging Het
Gm4787 A T 12: 81,425,303 (GRCm39) M285K possibly damaging Het
Gm5084 T A 13: 60,360,320 (GRCm39) noncoding transcript Het
Gm6788 G A 19: 28,740,586 (GRCm39) noncoding transcript Het
Gm9922 G T 14: 101,966,841 (GRCm39) probably benign Het
Gtf3c4 A T 2: 28,723,988 (GRCm39) Y440* probably null Het
Helq A G 5: 100,921,820 (GRCm39) S795P probably damaging Het
Helz T A 11: 107,489,997 (GRCm39) S151T possibly damaging Het
Irgm1 T C 11: 48,757,440 (GRCm39) T124A probably benign Het
Itgam C T 7: 127,670,109 (GRCm39) P134S possibly damaging Het
Kdm6a T C X: 18,102,923 (GRCm39) Y217H probably benign Het
Kif6 T C 17: 50,208,812 (GRCm39) L744P probably benign Het
Kmt2c C T 5: 25,489,190 (GRCm39) R1203H probably damaging Het
Ksr2 A G 5: 117,693,535 (GRCm39) T328A probably damaging Het
Lig1 T C 7: 13,034,281 (GRCm39) probably benign Het
Lpar3 G A 3: 145,946,303 (GRCm39) probably benign Het
Lrrk2 T C 15: 91,584,095 (GRCm39) F285S possibly damaging Het
Marchf7 A G 2: 60,062,637 (GRCm39) D148G probably benign Het
Mcee T C 7: 64,050,049 (GRCm39) L60S probably damaging Het
Mob2 A G 7: 141,570,111 (GRCm39) I81T probably damaging Het
Mphosph8 T A 14: 56,909,909 (GRCm39) D87E probably damaging Het
Msantd5f9 A G 4: 73,835,754 (GRCm39) F237L probably benign Het
Myo1g T C 11: 6,462,283 (GRCm39) T560A probably benign Het
Nagk C T 6: 83,774,169 (GRCm39) T42I probably benign Het
Naip1 G T 13: 100,562,747 (GRCm39) T806K probably benign Het
Ncor2 A G 5: 125,195,857 (GRCm39) probably benign Het
Ocln G T 13: 100,647,967 (GRCm39) Y401* probably null Het
Odad2 T A 18: 7,211,630 (GRCm39) Y748F probably benign Het
Oma1 T A 4: 103,182,374 (GRCm39) N292K probably damaging Het
Or8b55 G A 9: 38,727,443 (GRCm39) V215I probably benign Het
Ovch2 T A 7: 107,389,412 (GRCm39) probably null Het
Pcdhb16 T C 18: 37,611,441 (GRCm39) F134L probably damaging Het
Pipox A T 11: 77,772,360 (GRCm39) Y337N probably benign Het
Polr3b A G 10: 84,528,865 (GRCm39) D763G probably damaging Het
Pygo1 T A 9: 72,852,078 (GRCm39) N88K probably damaging Het
Rab3gap1 T C 1: 127,862,251 (GRCm39) M674T probably damaging Het
Rbm25 T C 12: 83,719,501 (GRCm39) probably benign Het
Rbm26 C T 14: 105,354,542 (GRCm39) probably benign Het
Rbms2 G A 10: 127,974,055 (GRCm39) T187I possibly damaging Het
Rnase11 T A 14: 51,287,184 (GRCm39) R123S probably benign Het
Rngtt A G 4: 33,443,614 (GRCm39) N485D probably benign Het
Rp1l1 A T 14: 64,265,415 (GRCm39) M334L probably benign Het
Rps9 T A 7: 3,707,726 (GRCm39) L56Q probably damaging Het
Saysd1 C A 14: 20,133,170 (GRCm39) probably benign Het
Sema4d C T 13: 51,867,727 (GRCm39) probably null Het
Shisa5 A T 9: 108,869,998 (GRCm39) D34V probably damaging Het
Skil A G 3: 31,171,655 (GRCm39) D547G probably damaging Het
Slc2a5 T A 4: 150,227,514 (GRCm39) F444L probably damaging Het
Slc9b2 T G 3: 135,022,892 (GRCm39) C10G possibly damaging Het
Sorcs2 G T 5: 36,386,564 (GRCm39) probably benign Het
Stk17b T G 1: 53,805,140 (GRCm39) K140N possibly damaging Het
Stradb T A 1: 59,033,549 (GRCm39) L404Q possibly damaging Het
Synj2 T C 17: 6,076,826 (GRCm39) M432T possibly damaging Het
Tanc1 G T 2: 59,630,441 (GRCm39) R800L probably damaging Het
Tenm4 A G 7: 96,522,987 (GRCm39) M1473V probably benign Het
Tesc A G 5: 118,199,667 (GRCm39) I190V probably benign Het
Tex15 T C 8: 34,064,262 (GRCm39) F1231L probably benign Het
Thrsp T C 7: 97,066,332 (GRCm39) I127V probably benign Het
Tlr6 A T 5: 65,111,055 (GRCm39) C617* probably null Het
Trank1 A T 9: 111,221,893 (GRCm39) I2877F probably benign Het
Tut4 T A 4: 108,406,552 (GRCm39) H1373Q probably damaging Het
Ucp1 T C 8: 84,024,496 (GRCm39) S274P probably damaging Het
Ucp2 T A 7: 100,147,606 (GRCm39) V195E probably damaging Het
Vars2 T C 17: 35,973,108 (GRCm39) T394A probably damaging Het
Vmn1r1 A G 1: 181,985,371 (GRCm39) V98A possibly damaging Het
Vmn1r225 A G 17: 20,722,918 (GRCm39) I120V probably benign Het
Vmn2r102 A T 17: 19,897,881 (GRCm39) M299L probably benign Het
Vmn2r25 A G 6: 123,802,337 (GRCm39) V522A probably benign Het
Vmn2r70 T C 7: 85,215,130 (GRCm39) I135V probably benign Het
Vwf T C 6: 125,567,138 (GRCm39) probably benign Het
Zfp446 T C 7: 12,713,048 (GRCm39) F29L probably 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
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'- TGGACATGGATGACCTGGAG -3'
(R):5'- AAGGATGGGAAAGGCTTCTC -3'

Sequencing Primer
(F):5'- CCTGGAGGTGGTAGATGTGGAAG -3'
(R):5'- GGAAAGGCTTCTCTAGTTAGTACCC -3'
Posted On 2014-06-23