Incidental Mutation 'R5450:Arhgef4'
ID 429247
Institutional Source Beutler Lab
Gene Symbol Arhgef4
Ensembl Gene ENSMUSG00000037509
Gene Name Rho guanine nucleotide exchange factor 4
Synonyms Asef, 9330140K16Rik, C230030N03Rik
MMRRC Submission 043015-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5450 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 34717263-34851819 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to G at 34846405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047664] [ENSMUST00000159021] [ENSMUST00000159747] [ENSMUST00000160855] [ENSMUST00000162599]
AlphaFold Q7TNR9
Predicted Effect probably benign
Transcript: ENSMUST00000047664
SMART Domains Protein: ENSMUSP00000035980
Gene: ENSMUSG00000037509

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 benign
Transcript: ENSMUST00000159747
SMART Domains Protein: ENSMUSP00000124213
Gene: ENSMUSG00000037509

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 benign
Transcript: ENSMUST00000162599
SMART Domains Protein: ENSMUSP00000124906
Gene: ENSMUSG00000037509

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency 97% (74/76)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Atg14 T C 14: 47,788,921 (GRCm39) N144S probably benign Het
Cacna1h A T 17: 25,602,160 (GRCm39) M1454K probably damaging Het
Catsperb A T 12: 101,412,327 (GRCm39) H138L possibly damaging Het
Cd200r2 T A 16: 44,729,934 (GRCm39) D159E probably benign Het
Cd79a G T 7: 24,598,687 (GRCm39) G79C probably damaging Het
Ceacam20 A G 7: 19,712,133 (GRCm39) H38R possibly damaging Het
Cers1 T C 8: 70,770,947 (GRCm39) L119P probably damaging Het
Ces1f C A 8: 93,992,423 (GRCm39) V343L probably benign Het
Ces3a G A 8: 105,784,550 (GRCm39) G511S possibly damaging Het
Cyfip2 A G 11: 46,175,079 (GRCm39) C98R probably benign Het
Cyp2j11 C A 4: 96,228,113 (GRCm39) V169L probably benign Het
Cyp4f17 A G 17: 32,747,860 (GRCm39) T523A probably benign Het
Ddx31 T C 2: 28,776,981 (GRCm39) S567P probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Dsg1b A C 18: 20,542,121 (GRCm39) H876P probably damaging Het
Edrf1 G T 7: 133,260,339 (GRCm39) M83I probably damaging Het
Eno4 T C 19: 58,948,679 (GRCm39) F393S possibly damaging Het
Eral1 C T 11: 77,969,183 (GRCm39) D106N probably benign Het
Esp18 G T 17: 39,719,070 (GRCm39) R23M probably benign Het
Fam184b C T 5: 45,697,143 (GRCm39) V674I probably benign Het
Fbxw13 A C 9: 109,013,225 (GRCm39) N154K probably benign Het
Gtpbp6 A G 5: 110,254,991 (GRCm39) V130A probably damaging Het
Hc T C 2: 34,903,050 (GRCm39) D1067G possibly damaging Het
Ighg1 A T 12: 113,294,126 (GRCm39) S6T unknown Het
Ikzf3 C T 11: 98,357,912 (GRCm39) R475H probably damaging Het
Itprid1 T A 6: 55,945,796 (GRCm39) probably null Het
Kcmf1 A T 6: 72,819,913 (GRCm39) L311* probably null Het
Kmt2d C A 15: 98,752,967 (GRCm39) E184D probably damaging Het
Lrguk A T 6: 34,047,996 (GRCm39) I314F probably damaging Het
Maml2 A C 9: 13,617,763 (GRCm39) S370R probably damaging Het
Mroh1 C A 15: 76,316,547 (GRCm39) probably benign Het
Mx1 A T 16: 97,255,347 (GRCm39) Y235* probably null Het
Or4x6 A G 2: 89,949,013 (GRCm39) *310Q probably null Het
Pamr1 T G 2: 102,469,662 (GRCm39) Y403D probably damaging Het
Panx2 A G 15: 88,953,162 (GRCm39) E551G possibly damaging Het
Patl2 A G 2: 121,955,762 (GRCm39) V258A probably benign Het
Ppm1m A G 9: 106,074,041 (GRCm39) F255L probably benign Het
Prpf40a G T 2: 53,046,938 (GRCm39) T266N possibly damaging Het
Psg18 T A 7: 18,087,350 (GRCm39) I103F probably benign Het
Rpl39-ps A G 15: 102,543,583 (GRCm39) noncoding transcript Het
Rps6kb1 A T 11: 86,423,663 (GRCm39) F106I probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Sardh G T 2: 27,129,710 (GRCm39) T245K possibly damaging Het
Shprh T G 10: 11,088,074 (GRCm39) I1619S possibly damaging Het
Skint1 G A 4: 111,882,729 (GRCm39) V258I probably benign Het
Slc27a5 T C 7: 12,728,869 (GRCm39) D331G probably benign Het
Slc29a2 A G 19: 5,079,303 (GRCm39) I309V probably benign Het
Slc30a5 C T 13: 100,957,680 (GRCm39) V130I possibly damaging Het
Slc4a3 C A 1: 75,529,300 (GRCm39) A531D probably damaging Het
Slc6a16 C T 7: 44,910,672 (GRCm39) T399I probably benign Het
Slitrk6 T A 14: 110,987,529 (GRCm39) H726L probably benign Het
Snx2 A G 18: 53,343,784 (GRCm39) K309R probably damaging Het
Speer4f2 T A 5: 17,578,217 (GRCm39) C4S possibly damaging Het
Sulf1 T C 1: 12,867,131 (GRCm39) V105A probably benign Het
Tcstv7a A T 13: 120,289,899 (GRCm39) V99E probably damaging Het
Tmem8b G A 4: 43,673,992 (GRCm39) V208I probably benign Het
Vmn1r47 T C 6: 89,999,195 (GRCm39) L109P probably damaging Het
Vmn1r73 C A 7: 11,490,376 (GRCm39) Q65K possibly damaging Het
Vmn1r76 T C 7: 11,664,611 (GRCm39) Y166C probably damaging Het
Vmn2r2 T C 3: 64,034,011 (GRCm39) T504A probably benign Het
Wdr75 C A 1: 45,851,324 (GRCm39) A300E probably benign Het
Yars1 A G 4: 129,091,039 (GRCm39) E149G possibly damaging Het
Zbtb18 T C 1: 177,274,771 (GRCm39) F35L probably damaging Het
Zfp366 A G 13: 99,366,093 (GRCm39) Y418C 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
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'- CGAAGCTCAGCAAGTACGTG -3'
(R):5'- AAGTACAGTAGCCCTCCTTTCC -3'

Sequencing Primer
(F):5'- AGTACGTGTACTTCTTCGAGGCC -3'
(R):5'- TCCTGCATAACTTCCAGGTATAACAG -3'
Posted On 2016-09-06