Incidental Mutation 'IGL02604:Arfgef1'
ID 300209
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arfgef1
Ensembl Gene ENSMUSG00000067851
Gene Name ADP ribosylation factor guanine nucleotide exchange factor 1
Synonyms D730028O18Rik, D130059B05Rik, BIG1, P200, ARFGEP1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02604
Quality Score
Status
Chromosome 1
Chromosomal Location 10207796-10302895 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to A at 10251275 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088615] [ENSMUST00000131556]
AlphaFold G3X9K3
Predicted Effect probably benign
Transcript: ENSMUST00000088615
SMART Domains Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851

DomainStartEndE-ValueType
Pfam:DCB 28 213 5.2e-45 PFAM
low complexity region 221 233 N/A INTRINSIC
low complexity region 291 306 N/A INTRINSIC
Pfam:Sec7_N 416 575 1.3e-52 PFAM
Blast:Sec7 588 637 6e-24 BLAST
low complexity region 661 681 N/A INTRINSIC
Sec7 692 879 1.15e-105 SMART
Blast:Sec7 897 933 6e-13 BLAST
Blast:Sec7 947 986 8e-18 BLAST
Pfam:DUF1981 1217 1300 3.6e-39 PFAM
low complexity region 1587 1602 N/A INTRINSIC
low complexity region 1777 1782 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000131556
SMART Domains Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851

DomainStartEndE-ValueType
coiled coil region 207 234 N/A INTRINSIC
low complexity region 291 306 N/A INTRINSIC
Pfam:Sec7_N 413 576 3.1e-59 PFAM
Blast:Sec7 588 637 2e-24 BLAST
low complexity region 661 681 N/A INTRINSIC
Sec7 692 879 1.15e-105 SMART
Blast:Sec7 897 933 3e-13 BLAST
Blast:Sec7 947 986 2e-18 BLAST
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP. It contains a Sec7 domain, which may be responsible for guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit neonatal lethality, absent gastric milk and decreased brain size with increased neuron apoptosis, abnormal axon guidance and hypersensitivity to glutamate. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2300002M23Rik T C 17: 35,878,845 (GRCm39) V61A probably benign Het
Arhgef4 T A 1: 34,850,804 (GRCm39) L594* probably null Het
Cacna2d3 T C 14: 29,015,066 (GRCm39) T375A possibly damaging Het
Calb2 A C 8: 110,875,160 (GRCm39) Y155D probably damaging Het
Camkmt A G 17: 85,404,053 (GRCm39) T92A possibly damaging Het
Cfap91 A G 16: 38,141,921 (GRCm39) probably benign Het
Chsy3 A G 18: 59,542,187 (GRCm39) S442G probably benign Het
Cyp4f13 T C 17: 33,151,395 (GRCm39) I173V probably benign Het
Dapk1 A G 13: 60,896,134 (GRCm39) T741A probably benign Het
Dennd3 T C 15: 73,428,252 (GRCm39) I866T probably damaging Het
Dhrs2 A T 14: 55,474,778 (GRCm39) I138F possibly damaging Het
Dscaml1 C T 9: 45,655,626 (GRCm39) probably benign Het
Fsbp A G 4: 11,584,147 (GRCm39) E282G probably damaging Het
Hpgds A T 6: 65,100,594 (GRCm39) L128Q probably damaging Het
Hspa9 A G 18: 35,087,266 (GRCm39) V13A unknown Het
Itgb3 A G 11: 104,553,269 (GRCm39) E709G probably damaging Het
Jarid2 T C 13: 45,027,877 (GRCm39) S148P probably damaging Het
Kcna6 C T 6: 126,716,167 (GRCm39) G241R probably benign Het
Kdm5a T A 6: 120,408,941 (GRCm39) N1541K probably benign Het
Kel C A 6: 41,664,516 (GRCm39) E640D probably damaging Het
Lcp1 A T 14: 75,461,566 (GRCm39) I520F probably benign Het
Lgr4 A G 2: 109,841,658 (GRCm39) I524V probably damaging Het
Mup20 A C 4: 61,970,141 (GRCm39) Y139D probably damaging Het
Notch4 T C 17: 34,784,362 (GRCm39) probably null Het
Obox7 A G 7: 14,399,293 (GRCm39) E173G probably benign Het
Or10a49 T A 7: 108,467,857 (GRCm39) Y168F probably benign Het
Or2a25 T A 6: 42,888,992 (GRCm39) C178* probably null Het
Or5w22 A T 2: 87,362,949 (GRCm39) T191S probably damaging Het
Or8b40 C T 9: 38,027,148 (GRCm39) Q19* probably null Het
Or9i1 T A 19: 13,839,170 (GRCm39) N4K probably benign Het
Patl2 T G 2: 121,955,814 (GRCm39) T241P possibly damaging Het
Pip5k1c C A 10: 81,153,155 (GRCm39) probably null Het
Plekhg6 T C 6: 125,354,342 (GRCm39) probably benign Het
Pon1 C A 6: 5,168,375 (GRCm39) G344V probably damaging Het
Ppp1r21 G T 17: 88,880,171 (GRCm39) K529N probably benign Het
Prdm15 A G 16: 97,623,142 (GRCm39) S203P probably benign Het
Psmc2 T A 5: 22,000,098 (GRCm39) probably null Het
Ptn T C 6: 36,692,653 (GRCm39) M166V unknown Het
Ptpn13 A G 5: 103,649,769 (GRCm39) N391D probably benign Het
Rnf214 A G 9: 45,780,841 (GRCm39) S383P probably damaging Het
Rufy4 T A 1: 74,173,348 (GRCm39) L438H probably damaging Het
Scarf2 A G 16: 17,621,608 (GRCm39) T353A probably damaging Het
Serpinb9e A C 13: 33,441,742 (GRCm39) I225L probably benign Het
Slc25a40 T C 5: 8,503,219 (GRCm39) V312A probably benign Het
Tmc3 A G 7: 83,271,827 (GRCm39) Y993C possibly damaging Het
Trim56 A C 5: 137,141,930 (GRCm39) C529G probably damaging Het
Trim8 T C 19: 46,503,917 (GRCm39) S490P probably damaging Het
Trmt6 A T 2: 132,652,357 (GRCm39) Y147* probably null Het
Vmn2r109 T A 17: 20,760,963 (GRCm39) H798L probably damaging Het
Vps35 A G 8: 86,013,018 (GRCm39) L153P probably damaging Het
Wdr82 T C 9: 106,060,880 (GRCm39) I131T probably damaging Het
Zfp69 A T 4: 120,788,660 (GRCm39) D218E probably benign Het
Other mutations in Arfgef1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00766:Arfgef1 APN 1 10,270,012 (GRCm39) missense probably benign
IGL00919:Arfgef1 APN 1 10,243,462 (GRCm39) missense probably damaging 1.00
IGL01022:Arfgef1 APN 1 10,244,301 (GRCm39) missense probably damaging 1.00
IGL01155:Arfgef1 APN 1 10,269,207 (GRCm39) splice site probably benign
IGL01288:Arfgef1 APN 1 10,283,436 (GRCm39) missense possibly damaging 0.67
IGL01397:Arfgef1 APN 1 10,229,796 (GRCm39) missense probably benign 0.40
IGL01433:Arfgef1 APN 1 10,223,657 (GRCm39) missense probably damaging 1.00
IGL01653:Arfgef1 APN 1 10,230,133 (GRCm39) nonsense probably null
IGL01669:Arfgef1 APN 1 10,229,840 (GRCm39) missense probably damaging 1.00
IGL01795:Arfgef1 APN 1 10,217,753 (GRCm39) missense probably benign 0.01
IGL01860:Arfgef1 APN 1 10,224,621 (GRCm39) missense probably damaging 1.00
IGL02137:Arfgef1 APN 1 10,283,338 (GRCm39) missense probably damaging 1.00
IGL02365:Arfgef1 APN 1 10,270,108 (GRCm39) missense probably benign 0.00
IGL02519:Arfgef1 APN 1 10,279,893 (GRCm39) missense probably benign 0.13
IGL02542:Arfgef1 APN 1 10,243,067 (GRCm39) missense probably benign 0.24
IGL02743:Arfgef1 APN 1 10,270,054 (GRCm39) missense probably benign 0.00
IGL03225:Arfgef1 APN 1 10,224,543 (GRCm39) missense probably damaging 1.00
Collected UTSW 1 10,251,163 (GRCm39) missense probably damaging 1.00
uncle_joe UTSW 1 10,231,060 (GRCm39) missense probably damaging 1.00
G1Funyon:Arfgef1 UTSW 1 10,250,058 (GRCm39) missense probably damaging 1.00
I2288:Arfgef1 UTSW 1 10,243,478 (GRCm39) missense probably damaging 1.00
I2289:Arfgef1 UTSW 1 10,243,478 (GRCm39) missense probably damaging 1.00
R0383:Arfgef1 UTSW 1 10,269,067 (GRCm39) critical splice donor site probably null
R0491:Arfgef1 UTSW 1 10,250,212 (GRCm39) splice site probably benign
R0636:Arfgef1 UTSW 1 10,270,076 (GRCm39) missense probably benign
R1006:Arfgef1 UTSW 1 10,210,706 (GRCm39) missense probably benign 0.00
R1212:Arfgef1 UTSW 1 10,286,784 (GRCm39) missense probably benign 0.05
R1233:Arfgef1 UTSW 1 10,254,315 (GRCm39) missense probably damaging 1.00
R1346:Arfgef1 UTSW 1 10,229,958 (GRCm39) missense probably benign 0.41
R1416:Arfgef1 UTSW 1 10,243,164 (GRCm39) missense probably damaging 1.00
R1477:Arfgef1 UTSW 1 10,259,509 (GRCm39) missense probably damaging 1.00
R1581:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R1587:Arfgef1 UTSW 1 10,230,184 (GRCm39) missense probably damaging 0.99
R1602:Arfgef1 UTSW 1 10,275,115 (GRCm39) missense probably benign 0.01
R1745:Arfgef1 UTSW 1 10,243,480 (GRCm39) missense probably damaging 1.00
R1831:Arfgef1 UTSW 1 10,275,115 (GRCm39) missense probably benign 0.01
R1832:Arfgef1 UTSW 1 10,275,115 (GRCm39) missense probably benign 0.01
R1833:Arfgef1 UTSW 1 10,275,115 (GRCm39) missense probably benign 0.01
R1918:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R1919:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R2059:Arfgef1 UTSW 1 10,258,977 (GRCm39) splice site probably null
R2146:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R2148:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R2149:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R2150:Arfgef1 UTSW 1 10,270,103 (GRCm39) missense probably benign 0.02
R2373:Arfgef1 UTSW 1 10,244,367 (GRCm39) missense probably damaging 1.00
R2516:Arfgef1 UTSW 1 10,223,879 (GRCm39) missense possibly damaging 0.89
R3863:Arfgef1 UTSW 1 10,212,811 (GRCm39) frame shift probably null
R3916:Arfgef1 UTSW 1 10,259,668 (GRCm39) missense probably benign 0.01
R3948:Arfgef1 UTSW 1 10,212,811 (GRCm39) frame shift probably null
R3949:Arfgef1 UTSW 1 10,212,811 (GRCm39) frame shift probably null
R3977:Arfgef1 UTSW 1 10,279,859 (GRCm39) missense probably benign 0.01
R3978:Arfgef1 UTSW 1 10,279,859 (GRCm39) missense probably benign 0.01
R3979:Arfgef1 UTSW 1 10,279,859 (GRCm39) missense probably benign 0.01
R4086:Arfgef1 UTSW 1 10,233,984 (GRCm39) missense probably benign 0.06
R4175:Arfgef1 UTSW 1 10,229,861 (GRCm39) missense probably damaging 1.00
R4257:Arfgef1 UTSW 1 10,229,771 (GRCm39) intron probably benign
R4572:Arfgef1 UTSW 1 10,283,366 (GRCm39) missense probably damaging 1.00
R4652:Arfgef1 UTSW 1 10,243,487 (GRCm39) missense probably damaging 0.98
R4678:Arfgef1 UTSW 1 10,212,891 (GRCm39) missense probably benign 0.03
R4737:Arfgef1 UTSW 1 10,259,836 (GRCm39) missense possibly damaging 0.85
R4779:Arfgef1 UTSW 1 10,223,958 (GRCm39) missense probably damaging 1.00
R4818:Arfgef1 UTSW 1 10,286,772 (GRCm39) missense probably benign
R4898:Arfgef1 UTSW 1 10,229,798 (GRCm39) missense possibly damaging 0.75
R4979:Arfgef1 UTSW 1 10,283,334 (GRCm39) missense probably damaging 1.00
R5039:Arfgef1 UTSW 1 10,269,961 (GRCm39) missense probably benign 0.37
R5194:Arfgef1 UTSW 1 10,275,132 (GRCm39) missense probably benign 0.09
R5428:Arfgef1 UTSW 1 10,231,060 (GRCm39) missense probably damaging 1.00
R5533:Arfgef1 UTSW 1 10,269,952 (GRCm39) critical splice donor site probably null
R5547:Arfgef1 UTSW 1 10,231,201 (GRCm39) missense probably damaging 1.00
R5562:Arfgef1 UTSW 1 10,214,971 (GRCm39) missense probably damaging 1.00
R5635:Arfgef1 UTSW 1 10,259,085 (GRCm39) missense possibly damaging 0.81
R5697:Arfgef1 UTSW 1 10,231,063 (GRCm39) missense probably benign 0.03
R5704:Arfgef1 UTSW 1 10,229,808 (GRCm39) missense probably damaging 0.98
R5722:Arfgef1 UTSW 1 10,209,109 (GRCm39) missense probably benign 0.04
R5793:Arfgef1 UTSW 1 10,279,753 (GRCm39) missense probably benign 0.01
R5835:Arfgef1 UTSW 1 10,230,964 (GRCm39) missense probably damaging 1.00
R5870:Arfgef1 UTSW 1 10,251,163 (GRCm39) missense probably damaging 1.00
R5990:Arfgef1 UTSW 1 10,243,146 (GRCm39) missense probably damaging 0.99
R6290:Arfgef1 UTSW 1 10,259,036 (GRCm39) missense possibly damaging 0.91
R6460:Arfgef1 UTSW 1 10,283,285 (GRCm39) missense probably damaging 1.00
R6613:Arfgef1 UTSW 1 10,264,621 (GRCm39) missense possibly damaging 0.95
R6802:Arfgef1 UTSW 1 10,259,677 (GRCm39) missense probably benign 0.35
R6967:Arfgef1 UTSW 1 10,223,904 (GRCm39) missense probably damaging 0.99
R6967:Arfgef1 UTSW 1 10,223,903 (GRCm39) missense probably damaging 1.00
R6968:Arfgef1 UTSW 1 10,223,904 (GRCm39) missense probably damaging 0.99
R6968:Arfgef1 UTSW 1 10,223,903 (GRCm39) missense probably damaging 1.00
R6969:Arfgef1 UTSW 1 10,223,904 (GRCm39) missense probably damaging 0.99
R6969:Arfgef1 UTSW 1 10,223,903 (GRCm39) missense probably damaging 1.00
R6970:Arfgef1 UTSW 1 10,223,904 (GRCm39) missense probably damaging 0.99
R6970:Arfgef1 UTSW 1 10,223,903 (GRCm39) missense probably damaging 1.00
R7092:Arfgef1 UTSW 1 10,223,901 (GRCm39) missense probably damaging 1.00
R7251:Arfgef1 UTSW 1 10,269,200 (GRCm39) missense possibly damaging 0.81
R7334:Arfgef1 UTSW 1 10,254,685 (GRCm39) missense probably damaging 1.00
R7399:Arfgef1 UTSW 1 10,251,122 (GRCm39) missense probably benign 0.00
R7631:Arfgef1 UTSW 1 10,302,694 (GRCm39) missense probably benign 0.00
R7699:Arfgef1 UTSW 1 10,264,636 (GRCm39) missense possibly damaging 0.78
R7700:Arfgef1 UTSW 1 10,264,636 (GRCm39) missense possibly damaging 0.78
R7772:Arfgef1 UTSW 1 10,227,235 (GRCm39) missense possibly damaging 0.96
R7968:Arfgef1 UTSW 1 10,243,145 (GRCm39) missense probably damaging 1.00
R8195:Arfgef1 UTSW 1 10,243,478 (GRCm39) missense probably damaging 1.00
R8292:Arfgef1 UTSW 1 10,227,194 (GRCm39) missense probably benign 0.06
R8301:Arfgef1 UTSW 1 10,250,058 (GRCm39) missense probably damaging 1.00
R8341:Arfgef1 UTSW 1 10,224,553 (GRCm39) missense probably benign 0.37
R8410:Arfgef1 UTSW 1 10,229,867 (GRCm39) missense possibly damaging 0.94
R8411:Arfgef1 UTSW 1 10,286,759 (GRCm39) missense probably benign 0.01
R8793:Arfgef1 UTSW 1 10,212,832 (GRCm39) missense possibly damaging 0.95
R8903:Arfgef1 UTSW 1 10,211,838 (GRCm39) missense probably damaging 1.00
R8955:Arfgef1 UTSW 1 10,270,062 (GRCm39) missense probably benign 0.25
R9036:Arfgef1 UTSW 1 10,259,055 (GRCm39) missense probably benign 0.01
R9185:Arfgef1 UTSW 1 10,215,004 (GRCm39) missense probably damaging 1.00
R9252:Arfgef1 UTSW 1 10,243,122 (GRCm39) nonsense probably null
R9333:Arfgef1 UTSW 1 10,222,037 (GRCm39) nonsense probably null
R9335:Arfgef1 UTSW 1 10,228,236 (GRCm39) missense probably damaging 1.00
R9348:Arfgef1 UTSW 1 10,283,419 (GRCm39) missense probably benign 0.03
R9355:Arfgef1 UTSW 1 10,270,000 (GRCm39) missense probably benign 0.00
R9564:Arfgef1 UTSW 1 10,217,758 (GRCm39) missense probably benign 0.00
R9600:Arfgef1 UTSW 1 10,233,977 (GRCm39) missense probably benign 0.01
R9789:Arfgef1 UTSW 1 10,243,427 (GRCm39) missense probably damaging 1.00
V1662:Arfgef1 UTSW 1 10,243,478 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16