Incidental Mutation 'R2213:Arhgef4'
ID 239490
Institutional Source Beutler Lab
Gene Symbol Arhgef4
Ensembl Gene ENSMUSG00000037509
Gene Name Rho guanine nucleotide exchange factor 4
Synonyms Asef, 9330140K16Rik, C230030N03Rik
MMRRC Submission 040215-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2213 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) G to A at 34846230 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124467 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047664] [ENSMUST00000159021] [ENSMUST00000159747] [ENSMUST00000160855] [ENSMUST00000162599]
AlphaFold Q7TNR9
Predicted Effect probably benign
Transcript: ENSMUST00000047664
AA Change: V193M

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509
AA Change: V193M

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 null
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 damaging
Transcript: ENSMUST00000159747
AA Change: V1564M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: V1564M

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 silent
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 possibly damaging
Transcript: ENSMUST00000162599
AA Change: V337M

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: V337M

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: ENSMUST00000162760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193040
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1c12 T C 13: 4,326,247 (GRCm39) D78G probably damaging Het
Anxa1 C T 19: 20,360,239 (GRCm39) R124H probably damaging Het
C87436 G A 6: 86,422,455 (GRCm39) V10I probably benign Het
Ces1a G T 8: 93,751,853 (GRCm39) P427Q probably damaging Het
Cpm T C 10: 117,495,744 (GRCm39) Y78H probably damaging Het
Csmd3 G A 15: 47,683,843 (GRCm39) T1663I possibly damaging Het
Cul7 T C 17: 46,962,398 (GRCm39) F10L probably damaging Het
Cyp2j5 T C 4: 96,547,852 (GRCm39) N130S probably benign Het
Dclk1 G A 3: 55,387,854 (GRCm39) C100Y probably damaging Het
Ddb1 T C 19: 10,585,691 (GRCm39) L135P probably damaging Het
Dixdc1 A G 9: 50,613,245 (GRCm39) S211P probably benign Het
Dnah12 G T 14: 26,460,485 (GRCm39) K970N probably benign Het
Eps15 A G 4: 109,218,417 (GRCm39) K391E probably damaging Het
Fabp9 A G 3: 10,259,860 (GRCm39) V51A probably damaging Het
Flg T C 3: 93,200,335 (GRCm39) probably benign Het
Flnb AAGGAG AAG 14: 7,881,652 (GRCm38) probably benign Het
Fscb A T 12: 64,520,890 (GRCm39) I192N possibly damaging Het
Galntl5 A G 5: 25,422,527 (GRCm39) I333V probably benign Het
Gcnt3 A T 9: 69,941,989 (GRCm39) V193E probably benign Het
Gle1 T C 2: 29,839,313 (GRCm39) F535S probably damaging Het
Gpr87 A T 3: 59,086,465 (GRCm39) S347T probably damaging Het
Gstm2 C T 3: 107,893,409 (GRCm39) R18H probably damaging Het
H1f7 T A 15: 98,154,219 (GRCm39) Q310L unknown Het
Haus6 C T 4: 86,500,229 (GRCm39) E927K possibly damaging Het
Hunk A G 16: 90,229,505 (GRCm39) N122S probably damaging Het
Itih4 T A 14: 30,612,670 (GRCm39) V232E probably damaging Het
Jag1 G T 2: 136,931,812 (GRCm39) D586E probably benign Het
Klk1b1 T C 7: 43,619,905 (GRCm39) S155P probably damaging Het
Lama1 G T 17: 68,084,029 (GRCm39) G1424* probably null Het
Lrp1 T A 10: 127,376,571 (GRCm39) N4279I probably damaging Het
Lrrc43 G A 5: 123,641,640 (GRCm39) V525I possibly damaging Het
Lrrc4c G A 2: 97,460,816 (GRCm39) V481M probably benign Het
Mecr T A 4: 131,581,126 (GRCm39) probably null Het
Megf10 T A 18: 57,421,081 (GRCm39) Y906* probably null Het
Mpdz A G 4: 81,228,409 (GRCm39) F1319L probably damaging Het
Mtf2 A G 5: 108,248,780 (GRCm39) E364G possibly damaging Het
Nelfe T A 17: 35,072,859 (GRCm39) D160E probably benign Het
Nin A G 12: 70,092,128 (GRCm39) L727P probably damaging Het
Npat A G 9: 53,463,681 (GRCm39) T155A probably benign Het
Nup58 T C 14: 60,476,945 (GRCm39) D242G probably benign Het
Or4a78 A T 2: 89,497,891 (GRCm39) L113Q probably damaging Het
Pnlip T C 19: 58,662,202 (GRCm39) V116A probably benign Het
Prl7a2 T A 13: 27,849,051 (GRCm39) L79F probably benign Het
Rbm25 A T 12: 83,722,856 (GRCm39) I760L probably benign Het
Rbms3 A T 9: 116,788,534 (GRCm39) probably null Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rps10 C A 17: 27,849,473 (GRCm39) probably benign Het
Slc35e4 T C 11: 3,863,159 (GRCm39) E10G possibly damaging Het
Smad2 A T 18: 76,437,697 (GRCm39) T434S probably damaging Het
Sox30 C T 11: 45,875,679 (GRCm39) S477F probably damaging Het
Speer4a3 G T 5: 26,158,175 (GRCm39) T59K probably benign Het
Stat4 A T 1: 52,053,014 (GRCm39) D65V probably damaging Het
Strip2 A G 6: 29,931,147 (GRCm39) D366G probably damaging Het
Syngap1 C A 17: 27,172,043 (GRCm39) R84S probably damaging Het
Synpo2l A G 14: 20,710,734 (GRCm39) Y629H probably damaging Het
Taf4 A T 2: 179,577,683 (GRCm39) probably null Het
Ttc21a A G 9: 119,769,527 (GRCm39) H68R probably benign Het
Txndc8 T A 4: 57,984,199 (GRCm39) Q144L probably benign Het
Tyr T G 7: 87,142,086 (GRCm39) Q158P probably damaging Het
Uchl3 T A 14: 101,904,106 (GRCm39) probably null Het
Vwa5b1 T C 4: 138,332,123 (GRCm39) K298R probably benign Het
Wrn T C 8: 33,747,043 (GRCm39) N891S probably benign Het
Ylpm1 A G 12: 85,116,492 (GRCm39) S2125G 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
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'- GCGCCTATATAAAATGCGGAAG -3'
(R):5'- ACTCAGTGTGCTGGCTGATG -3'

Sequencing Primer
(F):5'- GGAAGCTCCTGACCCTCTCAC -3'
(R):5'- CTGATGGCATGCAGTCTCAG -3'
Posted On 2014-10-15