Incidental Mutation 'R4745:Arhgef4'
ID 356620
Institutional Source Beutler Lab
Gene Symbol Arhgef4
Ensembl Gene ENSMUSG00000037509
Gene Name Rho guanine nucleotide exchange factor 4
Synonyms Asef, 9330140K16Rik, C230030N03Rik
MMRRC Submission 042028-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4745 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34846356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 379 (T379A)
Ref Sequence ENSEMBL: ENSMUSP00000124906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047664] [ENSMUST00000159021] [ENSMUST00000159747] [ENSMUST00000160855] [ENSMUST00000162599]
AlphaFold Q7TNR9
Predicted Effect probably damaging
Transcript: ENSMUST00000047664
AA Change: T235A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509
AA Change: T235A

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 damaging
Transcript: ENSMUST00000159747
AA Change: T1606A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: T1606A

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: T379A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: T379A

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
Meta Mutation Damage Score 0.7373 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.8%
Validation Efficiency 97% (89/92)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,526,427 (GRCm39) Y619C probably damaging Het
Adck1 A G 12: 88,368,949 (GRCm39) probably null Het
Agap3 A C 5: 24,656,123 (GRCm39) probably null Het
Ankib1 A T 5: 3,782,566 (GRCm39) H354Q probably damaging Het
Ankrd29 T G 18: 12,387,679 (GRCm39) N301T probably benign Het
Arid1a A G 4: 133,480,417 (GRCm39) V169A probably benign Het
Bag2 T C 1: 33,787,417 (GRCm39) probably null Het
Bmt2 A C 6: 13,628,686 (GRCm39) Y332* probably null Het
Bpifb1 A T 2: 154,053,501 (GRCm39) K248* probably null Het
Caap1 C A 4: 94,444,751 (GRCm39) probably null Het
Calcr T A 6: 3,692,576 (GRCm39) Y389F probably damaging Het
Capn1 C T 19: 6,043,946 (GRCm39) V562I probably benign Het
Ccr1 T A 9: 123,763,985 (GRCm39) T182S probably benign Het
Ceacam15 T C 7: 16,407,259 (GRCm39) D86G probably benign Het
Cldnd1 C T 16: 58,550,006 (GRCm39) T63I probably benign Het
Col12a1 A T 9: 79,559,368 (GRCm39) probably null Het
Cystm1 A G 18: 36,526,348 (GRCm39) probably benign Het
Ddx55 T A 5: 124,705,028 (GRCm39) Y428* probably null Het
Ensa G A 3: 95,538,745 (GRCm39) G118D probably benign Het
Folh1 A T 7: 86,372,482 (GRCm39) probably null Het
Foxj2 C A 6: 122,814,948 (GRCm39) P328Q probably damaging Het
Fscn3 A G 6: 28,435,627 (GRCm39) I417V probably damaging Het
Galnt7 T C 8: 57,995,761 (GRCm39) probably benign Het
Gm11563 T A 11: 99,549,246 (GRCm39) *169C probably null Het
Hfm1 A T 5: 107,049,709 (GRCm39) D417E possibly damaging Het
Ighv15-2 A G 12: 114,528,230 (GRCm39) S107P probably damaging Het
Itsn2 A G 12: 4,711,944 (GRCm39) D904G probably damaging Het
Kif1b A T 4: 149,322,339 (GRCm39) L860* probably null Het
Krt79 T C 15: 101,839,119 (GRCm39) E450G probably damaging Het
Lama1 T C 17: 68,045,775 (GRCm39) S227P probably damaging Het
Lamp5 C A 2: 135,902,786 (GRCm39) H168Q probably benign Het
Lilra5 A T 7: 4,245,076 (GRCm39) Q240L possibly damaging Het
Lrp1 A T 10: 127,385,813 (GRCm39) C3521S probably benign Het
Mroh1 T A 15: 76,292,730 (GRCm39) probably null Het
Nlrp4g A T 9: 124,349,515 (GRCm38) noncoding transcript Het
Nr2f6 A T 8: 71,831,179 (GRCm39) I70N probably benign Het
Nr4a2 T A 2: 57,000,163 (GRCm39) D311V probably damaging Het
Odad2 G A 18: 7,286,763 (GRCm39) T156M probably benign Het
Or10w1 T A 19: 13,632,750 (GRCm39) M319K probably benign Het
Or10x4 T C 1: 174,219,442 (GRCm39) L269P probably damaging Het
Or52n20 T A 7: 104,320,711 (GRCm39) F267L probably damaging Het
Pcdhb6 C A 18: 37,468,426 (GRCm39) A449D possibly damaging Het
Pcgf6 A G 19: 47,036,545 (GRCm39) probably null Het
Prc1 C A 7: 79,962,911 (GRCm39) H131Q probably benign Het
Ptprq C A 10: 107,360,114 (GRCm39) R2187L probably damaging Het
Rasl2-9 C A 7: 5,128,702 (GRCm39) R76L possibly damaging Het
Rdh16f1 A T 10: 127,626,685 (GRCm39) Y246F probably benign Het
Rit1 T C 3: 88,624,982 (GRCm39) probably benign Het
Sash1 A G 10: 8,605,672 (GRCm39) V906A probably benign Het
Scnn1b T C 7: 121,501,509 (GRCm39) V108A probably benign Het
Sema4f A T 6: 82,895,265 (GRCm39) I356N probably damaging Het
Shc4 A T 2: 125,491,197 (GRCm39) L447Q probably damaging Het
Slc24a1 T C 9: 64,856,758 (GRCm39) M50V unknown Het
Slc28a3 T A 13: 58,722,077 (GRCm39) D269V possibly damaging Het
Slc35e1 A G 8: 73,246,166 (GRCm39) S89P possibly damaging Het
Smpd5 T A 15: 76,179,008 (GRCm39) H125Q probably benign Het
Snapc2 A G 8: 4,304,578 (GRCm39) T31A probably damaging Het
Sox5 G C 6: 143,779,214 (GRCm39) H606D possibly damaging Het
Spag6 A G 2: 18,742,107 (GRCm39) T367A possibly damaging Het
Spag8 T C 4: 43,651,636 (GRCm39) T413A probably damaging Het
Sptlc3 G A 2: 139,389,087 (GRCm39) G156R probably damaging Het
Stx19 A G 16: 62,642,783 (GRCm39) T200A probably benign Het
Tas2r116 A G 6: 132,832,668 (GRCm39) T90A probably benign Het
Tasor2 G A 13: 3,640,069 (GRCm39) T356I probably benign Het
Tbl3 A G 17: 24,924,304 (GRCm39) probably benign Het
Tekt5 G T 16: 10,213,058 (GRCm39) P76T probably damaging Het
Tjp2 C T 19: 24,074,030 (GRCm39) E1086K possibly damaging Het
Topbp1 T C 9: 103,200,770 (GRCm39) L601P probably damaging Het
Trav16 T A 14: 53,980,934 (GRCm39) M41K possibly damaging Het
Trav6-5 C A 14: 53,728,960 (GRCm39) N72K probably benign Het
Trpm3 C G 19: 22,692,659 (GRCm39) T250S possibly damaging Het
Vps35 A T 8: 85,987,891 (GRCm39) D753E probably benign Het
Vstm2a A T 11: 16,213,061 (GRCm39) N149Y probably damaging Het
Vwa2 G T 19: 56,895,318 (GRCm39) M497I probably benign Het
Zfat C A 15: 68,052,223 (GRCm39) V517L probably benign Het
Zfp169 C A 13: 48,643,708 (GRCm39) R473L possibly damaging Het
Zfp672 T C 11: 58,220,324 (GRCm39) probably benign Het
Zranb1 T C 7: 132,574,443 (GRCm39) V420A 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
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'- GCAAGCAGACTTCCAGATCTATTC -3'
(R):5'- CTCCGGTATAGCTCAAGGTG -3'

Sequencing Primer
(F):5'- GATCTATTCTGAGTACTGCAACAACC -3'
(R):5'- ATAGCTCAAGGTGGTGGCC -3'
Posted On 2015-11-11