Incidental Mutation 'R7525:Arhgef4'
ID 582889
Institutional Source Beutler Lab
Gene Symbol Arhgef4
Ensembl Gene ENSMUSG00000037509
Gene Name Rho guanine nucleotide exchange factor 4
Synonyms Asef, 9330140K16Rik, C230030N03Rik
MMRRC Submission 045597-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7525 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 34848785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 286 (D286G)
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 damaging
Transcript: ENSMUST00000047664
AA Change: D286G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509
AA Change: D286G

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: D1657G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509
AA Change: D1657G

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: D430G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509
AA Change: D430G

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
Meta Mutation Damage Score 0.3956 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
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
2900026A02Rik T C 5: 113,331,221 (GRCm39) T998A probably damaging Het
Aadacl4fm2 A G 4: 144,291,580 (GRCm39) F42S probably damaging Het
Akap9 C G 5: 4,018,745 (GRCm39) H1109D probably benign Het
Akt3 T A 1: 176,847,673 (GRCm39) K465* probably null Het
Ankar T C 1: 72,727,800 (GRCm39) D371G probably benign Het
Ankib1 T G 5: 3,805,734 (GRCm39) N178H possibly damaging Het
Arhgap10 A G 8: 78,146,699 (GRCm39) probably null Het
Bsdc1 A T 4: 129,355,477 (GRCm39) probably benign Het
Camk4 T C 18: 33,318,085 (GRCm39) V414A probably benign Het
Cyp2d9 T A 15: 82,338,293 (GRCm39) V139E possibly damaging Het
Dhrs13 C A 11: 77,923,260 (GRCm39) N21K unknown Het
Dop1a C T 9: 86,388,343 (GRCm39) A439V probably damaging Het
Dpy19l4 G A 4: 11,317,160 (GRCm39) Q13* probably null Het
Ecpas A G 4: 58,847,038 (GRCm39) I508T possibly damaging Het
Eif2ak1 T C 5: 143,823,716 (GRCm39) S388P probably damaging Het
Emilin2 T C 17: 71,581,974 (GRCm39) S251G probably benign Het
Eml4 T A 17: 83,753,379 (GRCm39) L350Q probably damaging Het
Fblim1 A T 4: 141,317,391 (GRCm39) L98H probably damaging Het
Fcrl6 T A 1: 172,425,239 (GRCm39) N264I probably benign Het
Gzme A C 14: 56,356,790 (GRCm39) D57E probably benign Het
H2-D1 A G 17: 35,484,909 (GRCm39) T257A probably damaging Het
Hectd4 C A 5: 121,481,728 (GRCm39) D3092E possibly damaging Het
Hrc A G 7: 44,985,803 (GRCm39) E318G probably benign Het
Hspbp1 A G 7: 4,666,435 (GRCm39) L315P probably damaging Het
Insr A T 8: 3,242,642 (GRCm39) Y591N probably damaging Het
Lrch4 T A 5: 137,637,727 (GRCm39) I582N probably damaging Het
Lrit2 A G 14: 36,794,450 (GRCm39) K505E possibly damaging Het
Lrp1b A T 2: 40,547,428 (GRCm39) N4251K Het
Mfsd13a T C 19: 46,357,716 (GRCm39) F290S probably damaging Het
Mgam T G 6: 40,742,954 (GRCm39) N1791K probably benign Het
Mroh7 A T 4: 106,566,899 (GRCm39) I450N probably benign Het
Mylk G A 16: 34,809,357 (GRCm39) M1771I probably benign Het
Or10ak12 A T 4: 118,666,691 (GRCm39) F123L probably damaging Het
Or51aa2 A T 7: 103,188,338 (GRCm39) C34* probably null Het
Or8d1 A T 9: 38,766,534 (GRCm39) M59L possibly damaging Het
Or8g55 T A 9: 39,785,435 (GRCm39) L288* probably null Het
Parp14 A T 16: 35,677,861 (GRCm39) H702Q probably benign Het
Pcdhga1 T C 18: 37,795,281 (GRCm39) L95P probably damaging Het
Pcsk5 T C 19: 17,619,954 (GRCm39) T373A probably damaging Het
Pdzph1 A G 17: 59,274,336 (GRCm39) V836A possibly damaging Het
Pgap1 T A 1: 54,570,081 (GRCm39) N322I probably benign Het
Pikfyve C T 1: 65,283,585 (GRCm39) R741* probably null Het
Pip4k2c A G 10: 127,044,773 (GRCm39) S80P probably damaging Het
Plekhh3 A G 11: 101,057,445 (GRCm39) F271L probably damaging Het
Prkdc A T 16: 15,490,191 (GRCm39) Y565F probably damaging Het
Prom2 T C 2: 127,374,701 (GRCm39) R612G probably benign Het
Psap T C 10: 60,135,253 (GRCm39) V303A probably benign Het
Ptch1 C T 13: 63,659,528 (GRCm39) R1375H probably benign Het
Slc24a3 A C 2: 145,455,450 (GRCm39) K446N probably benign Het
Slc39a12 T A 2: 14,499,272 (GRCm39) M661K probably benign Het
Slc6a16 T C 7: 44,908,537 (GRCm39) L39P probably benign Het
Syne1 T G 10: 5,135,559 (GRCm39) probably null Het
Taar8c T C 10: 23,977,764 (GRCm39) N16S probably benign Het
Tmem98 A G 11: 80,708,344 (GRCm39) T105A probably damaging Het
Tmub1 T A 5: 24,651,011 (GRCm39) Y216F probably damaging Het
Trim16 T G 11: 62,711,580 (GRCm39) C84G probably damaging Het
Ttn T A 2: 76,561,573 (GRCm39) K28978* probably null Het
Usp38 A G 8: 81,740,875 (GRCm39) V64A probably damaging Het
Vmn2r63 A T 7: 42,576,406 (GRCm39) F469Y possibly damaging Het
Vmn2r74 A G 7: 85,610,510 (GRCm39) W61R probably benign Het
Whamm G T 7: 81,243,598 (GRCm39) G607C probably damaging Het
Xkr6 G T 14: 64,056,610 (GRCm39) V430F probably benign Het
Zfp398 A G 6: 47,842,752 (GRCm39) D268G 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
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
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'- GTACTTCAGCGACCTCAGATC -3'
(R):5'- TACTCCATGAGACTGGTCTGG -3'

Sequencing Primer
(F):5'- CTATGACGACAGGGGTGGCTATG -3'
(R):5'- CCATGAGACTGGTCTGGCTAGG -3'
Posted On 2019-10-17