Incidental Mutation 'R9355:Arhgef4'
ID 708305
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 # R9355 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34849630 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 407 (E407G)
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 probably benign
Transcript: ENSMUST00000047664
AA Change: E407G

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509
AA Change: E407G

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: E1778G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: E1778G

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: E551G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: E551G

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: 98.9%
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano9 A G 7: 140,681,817 (GRCm39) V747A probably benign Het
Arfgef1 G A 1: 10,270,000 (GRCm39) P383L probably benign Het
Astn1 C T 1: 158,511,721 (GRCm39) L1188F probably damaging Het
Atg2b G A 12: 105,636,980 (GRCm39) P179S possibly damaging Het
Bcl9l G A 9: 44,419,000 (GRCm39) R983H probably benign Het
Bmp2k T A 5: 97,211,366 (GRCm39) Y511* probably null Het
C1galt1 G T 6: 7,866,474 (GRCm39) V107F probably damaging Het
Car3 T A 3: 14,928,664 (GRCm39) N11K Het
Ccdc170 A G 10: 4,508,695 (GRCm39) R640G probably benign Het
Cep126 A G 9: 8,100,038 (GRCm39) V832A possibly damaging Het
Ces1h C T 8: 94,101,149 (GRCm39) V49I Het
Clasp2 T A 9: 113,664,309 (GRCm39) V310D probably damaging Het
Comp C T 8: 70,828,699 (GRCm39) T177M probably benign Het
Coro1c T C 5: 114,003,726 (GRCm39) S98G probably damaging Het
Cpa6 C T 1: 10,479,520 (GRCm39) V238I probably benign Het
Crebrf T C 17: 26,962,094 (GRCm39) F397S probably damaging Het
Dcpp1 C A 17: 24,099,987 (GRCm39) Q3K possibly damaging Het
Dzip1l A G 9: 99,543,144 (GRCm39) D533G possibly damaging Het
Ecpas A T 4: 58,844,114 (GRCm39) S551T probably benign Het
Epha5 T C 5: 84,253,890 (GRCm39) E524G probably damaging Het
Epha7 A G 4: 28,935,806 (GRCm39) Y476C probably damaging Het
Erich5 G T 15: 34,471,001 (GRCm39) V77F probably damaging Het
Fat4 A G 3: 39,036,047 (GRCm39) Y3233C probably damaging Het
Ggt1 T A 10: 75,421,716 (GRCm39) V521E probably benign Het
Gm5431 A G 11: 48,785,275 (GRCm39) Y89H probably damaging Het
Gm5624 A T 14: 44,799,272 (GRCm39) L95* probably null Het
Gphn A G 12: 78,538,968 (GRCm39) T205A probably damaging Het
Grik5 C A 7: 24,767,597 (GRCm39) A28S possibly damaging Het
H2-K2 A G 17: 34,216,120 (GRCm39) S300P probably benign Het
H2-Oa T C 17: 34,313,723 (GRCm39) L227P possibly damaging Het
Hhip T C 8: 80,778,233 (GRCm39) N99S probably damaging Het
Hmcn2 A T 2: 31,328,302 (GRCm39) M4328L probably benign Het
Htt A T 5: 35,053,247 (GRCm39) M2527L probably benign Het
Impdh2 A T 9: 108,442,402 (GRCm39) H466L probably benign Het
Itgae G A 11: 73,006,906 (GRCm39) G384D probably damaging Het
Krt90 T C 15: 101,461,714 (GRCm39) S496G unknown Het
Krtap5-5 A G 7: 141,783,114 (GRCm39) S179P unknown Het
Lif C T 11: 4,219,044 (GRCm39) R63W probably damaging Het
Lrrc10 T C 10: 116,881,881 (GRCm39) V185A probably damaging Het
Lrrc27 A C 7: 138,822,648 (GRCm39) Q513P probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Map2k3 T C 11: 60,823,055 (GRCm39) S3P possibly damaging Het
Mc2r T C 18: 68,541,195 (GRCm39) T33A probably benign Het
Mefv T A 16: 3,525,882 (GRCm39) D795V probably damaging Het
Megf6 A T 4: 154,338,282 (GRCm39) R451W probably damaging Het
Mrpl21 G A 19: 3,336,937 (GRCm39) V103M probably damaging Het
Mtmr14 GCCGCCGCCTCGGCGGGTTCCACCGCCTCGTCGGGCAGCCCGCCGCCTC GCCGCCGCCTC 6: 113,214,948 (GRCm39) probably null Het
Myom1 T C 17: 71,384,888 (GRCm39) S760P probably damaging Het
Ndst4 A G 3: 125,403,246 (GRCm39) Y451C probably damaging Het
Nkain4 T C 2: 180,577,775 (GRCm39) N193S possibly damaging Het
Opa1 T A 16: 29,432,807 (GRCm39) L490H probably damaging Het
Opcml A C 9: 28,814,650 (GRCm39) I301L probably benign Het
Or10ak16 G A 4: 118,750,784 (GRCm39) S168N probably benign Het
Or1e33 A G 11: 73,738,643 (GRCm39) F103L probably damaging Het
Or4p23 A T 2: 88,576,749 (GRCm39) I161N probably damaging Het
Or52s19 T C 7: 103,008,125 (GRCm39) H92R probably benign Het
Pabpc1l T C 2: 163,884,469 (GRCm39) L402P probably benign Het
Palld C T 8: 61,969,691 (GRCm39) R1211H unknown Het
Peak1 G T 9: 56,167,454 (GRCm39) A158E probably damaging Het
Ppfibp2 C T 7: 107,322,169 (GRCm39) P406L probably benign Het
Qpctl T C 7: 18,875,146 (GRCm39) H362R probably damaging Het
Ripor2 A G 13: 24,885,694 (GRCm39) H643R probably benign Het
Scn11a A T 9: 119,584,160 (GRCm39) L1485Q probably damaging Het
Scn2a A T 2: 65,594,433 (GRCm39) I1761F probably damaging Het
Scrn3 A G 2: 73,166,077 (GRCm39) D370G probably benign Het
Sec24b A T 3: 129,787,489 (GRCm39) F877Y possibly damaging Het
Slc35f3 T C 8: 127,108,967 (GRCm39) I172T probably damaging Het
Smc3 T C 19: 53,622,544 (GRCm39) probably null Het
Smpd3 C T 8: 106,991,825 (GRCm39) V243M probably damaging Het
Sos1 T A 17: 80,722,479 (GRCm39) I856F possibly damaging Het
Sp2 A T 11: 96,852,231 (GRCm39) L231H possibly damaging Het
Syne1 T C 10: 5,318,255 (GRCm39) Y457C probably damaging Het
Tdpoz6 T C 3: 93,600,307 (GRCm39) T21A possibly damaging Het
Tekt5 T C 16: 10,213,268 (GRCm39) T6A possibly damaging Het
Tln2 G T 9: 67,262,529 (GRCm39) T574K possibly damaging Het
Tmem161a T C 8: 70,633,821 (GRCm39) S313P probably damaging Het
Trmt12 G A 15: 58,744,824 (GRCm39) C74Y probably damaging Het
Trpc6 A G 9: 8,649,473 (GRCm39) D561G probably benign Het
Ttn A G 2: 76,700,769 (GRCm39) V62A Het
Tubgcp5 T C 7: 55,467,177 (GRCm39) probably null Het
Unc13a C T 8: 72,098,375 (GRCm39) V1137M possibly damaging Het
Zfp729a A G 13: 67,767,515 (GRCm39) C905R probably damaging Het
Zfp735 A G 11: 73,602,362 (GRCm39) I435M probably benign Het
Zswim4 C A 8: 84,955,687 (GRCm39) G271W 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
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
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'- AGGATGGGAAAGGCTTCTCTAG -3'

Sequencing Primer
(F):5'- CCTGGAGGTGGTAGATGTGGAAG -3'
(R):5'- GGAAAGGCTTCTCTAGTTAGTACCC -3'
Posted On 2022-04-18