Incidental Mutation 'R1908:Arhgef4'
ID 210014
Institutional Source Beutler Lab
Gene Symbol Arhgef4
Ensembl Gene ENSMUSG00000037509
Gene Name Rho guanine nucleotide exchange factor 4
Synonyms Asef, 9330140K16Rik, C230030N03Rik
MMRRC Submission 039927-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1908 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 34763340 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Arginine at position 865 (S865R)
Ref Sequence ENSEMBL: ENSMUSP00000124213 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000159747]
AlphaFold Q7TNR9
Predicted Effect probably benign
Transcript: ENSMUST00000159747
AA Change: S865R

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: S865R

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
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b C A 11: 109,847,924 (GRCm39) L852F possibly damaging Het
Abcc6 T C 7: 45,669,558 (GRCm39) probably null Het
Alg11 T G 8: 22,555,584 (GRCm39) C240G probably damaging Het
Aox1 A G 1: 58,141,783 (GRCm39) I1190V probably damaging Het
Apc2 T G 10: 80,150,678 (GRCm39) S1911A probably benign Het
Arfgef3 T C 10: 18,528,511 (GRCm39) D292G possibly damaging Het
Ass1 T A 2: 31,383,160 (GRCm39) Y190* probably null Het
B4galnt3 A T 6: 120,187,051 (GRCm39) probably null Het
Btnl10 C A 11: 58,811,367 (GRCm39) P230Q possibly damaging Het
C3 A G 17: 57,516,489 (GRCm39) Y1348H probably damaging Het
Ccdc198 G T 14: 49,464,032 (GRCm39) D292E probably damaging Het
Cebpz A T 17: 79,242,336 (GRCm39) Y439* probably null Het
Cic C A 7: 24,986,265 (GRCm39) T1229K probably damaging Het
Clip4 T C 17: 72,144,744 (GRCm39) S524P probably damaging Het
Col6a3 A C 1: 90,739,421 (GRCm39) I269R probably damaging Het
Dbh C T 2: 27,071,506 (GRCm39) T533I possibly damaging Het
Dcaf17 A T 2: 70,890,713 (GRCm39) R83* probably null Het
Dennd2b G A 7: 109,124,533 (GRCm39) Q686* probably null Het
Dnah1 A G 14: 30,984,515 (GRCm39) L3923P probably damaging Het
Dnah7a A T 1: 53,670,721 (GRCm39) D510E probably benign Het
Dock6 A G 9: 21,752,925 (GRCm39) F296S probably damaging Het
Eif4enif1 T C 11: 3,177,455 (GRCm39) S341P probably damaging Het
Epb41l1 G T 2: 156,352,737 (GRCm39) G461V possibly damaging Het
Epg5 T A 18: 78,002,247 (GRCm39) D555E probably benign Het
Fes T C 7: 80,036,609 (GRCm39) R113G probably damaging Het
Garre1 T A 7: 33,957,461 (GRCm39) I59L probably benign Het
Gm10684 A G 9: 45,021,511 (GRCm39) probably benign Het
Gm12185 T C 11: 48,806,231 (GRCm39) E320G probably benign Het
Gm14412 G T 2: 177,007,269 (GRCm39) H209N probably damaging Het
Gm14412 A C 2: 177,007,630 (GRCm39) S88R probably benign Het
Grhl1 T A 12: 24,658,555 (GRCm39) L400Q probably damaging Het
Havcr1 T A 11: 46,664,511 (GRCm39) Y216* probably null Het
Hephl1 A C 9: 14,985,420 (GRCm39) Y745* probably null Het
Hmcn2 T G 2: 31,301,922 (GRCm39) probably null Het
Hs3st6 A G 17: 24,977,110 (GRCm39) K197E possibly damaging Het
Ifi214 C T 1: 173,357,077 (GRCm39) V9I probably benign Het
Jakmip2 T C 18: 43,700,209 (GRCm39) T450A probably benign Het
Lrp4 T A 2: 91,328,753 (GRCm39) V1551D possibly damaging Het
Macf1 A T 4: 123,351,634 (GRCm39) H1634Q possibly damaging Het
Mcpt8 T A 14: 56,321,291 (GRCm39) I58F probably benign Het
Mga T A 2: 119,757,075 (GRCm39) H1018Q possibly damaging Het
Myo10 T A 15: 25,801,308 (GRCm39) V1499E probably damaging Het
Myom2 G T 8: 15,131,023 (GRCm39) D320Y probably damaging Het
Or11g7 T A 14: 50,691,295 (GRCm39) M262K probably damaging Het
Or13a27 T C 7: 139,925,378 (GRCm39) I175V probably benign Het
Or2r11 C T 6: 42,437,360 (GRCm39) V198M probably benign Het
Or2t26 A C 11: 49,039,101 (GRCm39) N6H possibly damaging Het
Or4c115 G A 2: 88,927,888 (GRCm39) P128S probably damaging Het
Or5d47 A T 2: 87,804,403 (GRCm39) V202D possibly damaging Het
Pabpc4 G T 4: 123,182,861 (GRCm39) R166L possibly damaging Het
Pcdhb8 A G 18: 37,489,015 (GRCm39) E231G possibly damaging Het
Pomgnt2 A T 9: 121,811,257 (GRCm39) I508N possibly damaging Het
Ppp2r5e C G 12: 75,516,341 (GRCm39) A239P probably damaging Het
Prdm15 G T 16: 97,638,885 (GRCm39) D58E probably benign Het
Rgl2 A G 17: 34,151,122 (GRCm39) T117A probably benign Het
Rp1 A G 1: 4,418,943 (GRCm39) I723T probably damaging Het
Serpina3g A G 12: 104,207,536 (GRCm39) E233G probably damaging Het
Skint6 T A 4: 112,749,187 (GRCm39) S798C probably benign Het
Slc35f1 T C 10: 52,898,000 (GRCm39) L137P possibly damaging Het
Slc6a20a T C 9: 123,485,373 (GRCm39) N246S probably damaging Het
Slc7a2 T C 8: 41,369,534 (GRCm39) L663S probably benign Het
Slco1a4 A G 6: 141,761,173 (GRCm39) probably null Het
Slit2 A G 5: 48,439,330 (GRCm39) T41A probably damaging Het
Smc2 T C 4: 52,450,863 (GRCm39) I227T probably damaging Het
Smg1 A G 7: 117,753,422 (GRCm39) probably benign Het
Ssu2 A T 6: 112,361,388 (GRCm39) L23M probably benign Het
Syne2 A G 12: 76,141,053 (GRCm39) probably null Het
Tekt1 T C 11: 72,242,761 (GRCm39) T249A probably benign Het
Tfr2 T C 5: 137,569,954 (GRCm39) V120A probably benign Het
Thsd7b C T 1: 129,605,846 (GRCm39) P529L probably damaging Het
Tll1 C T 8: 64,478,141 (GRCm39) D871N probably damaging Het
Tlr11 A C 14: 50,598,664 (GRCm39) I217L probably benign Het
Tmem87b T A 2: 128,673,479 (GRCm39) V241D probably damaging Het
Tshz2 T A 2: 169,727,465 (GRCm39) I218N possibly damaging Het
Vmn1r18 A T 6: 57,367,026 (GRCm39) I176N possibly damaging Het
Vmn2r68 T A 7: 84,883,260 (GRCm39) H164L probably benign Het
Vmn2r74 T C 7: 85,601,650 (GRCm39) T663A probably benign Het
Vmn2r8 T C 5: 108,945,436 (GRCm39) T724A probably benign Het
Wdr11 T C 7: 129,206,954 (GRCm39) V289A possibly damaging Het
Zfp62 T A 11: 49,107,047 (GRCm39) D379E probably damaging Het
Zfp78 C T 7: 6,381,897 (GRCm39) P316S probably damaging Het
Zfyve27 T G 19: 42,159,987 (GRCm39) M1R probably null Het
Zkscan8 G A 13: 21,709,325 (GRCm39) P191L 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
R1809:Arhgef4 UTSW 1 34,849,636 (GRCm39) critical splice donor site probably null
R1879:Arhgef4 UTSW 1 34,761,521 (GRCm39) missense unknown
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'- TACAGCCAGGCCTTAACCTC -3'
(R):5'- AAAGCAGGTCGTTTGGAGCC -3'

Sequencing Primer
(F):5'- CTCAGAGGACTTGAACCCAGTTTG -3'
(R):5'- TTGCTTCTCAGAAACGCACG -3'
Posted On 2014-06-30