Incidental Mutation 'R5870:Arfgef1'
ID 455095
Institutional Source Beutler Lab
Gene Symbol Arfgef1
Ensembl Gene ENSMUSG00000067851
Gene Name ADP ribosylation factor guanine nucleotide exchange factor 1
Synonyms D730028O18Rik, D130059B05Rik, BIG1, P200, ARFGEP1
MMRRC Submission 044078-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5870 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 10207796-10302895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 10251163 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 874 (I874T)
Ref Sequence ENSEMBL: ENSMUSP00000118805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088615] [ENSMUST00000131556]
AlphaFold G3X9K3
Predicted Effect probably damaging
Transcript: ENSMUST00000088615
AA Change: I874T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: I874T

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 damaging
Transcript: ENSMUST00000131556
AA Change: I874T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
AA Change: I874T

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
Meta Mutation Damage Score 0.9629 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.1%
Validation Efficiency 93% (84/90)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy9 A G 16: 4,236,232 (GRCm39) V156A probably damaging Het
Ak6 C A 13: 100,791,932 (GRCm39) P125Q probably damaging Het
Aqp4 A C 18: 15,532,946 (GRCm39) V49G probably damaging Het
Arid1a T C 4: 133,408,387 (GRCm39) D2040G unknown Het
Atp1a3 T G 7: 24,697,003 (GRCm39) D220A probably benign Het
C2cd4c A T 10: 79,448,043 (GRCm39) I368N possibly damaging Het
Ccnt1 G A 15: 98,441,394 (GRCm39) Q625* probably null Het
Cd177 T A 7: 24,455,757 (GRCm39) H255L probably benign Het
Cdipt G A 7: 126,578,094 (GRCm39) V114M probably benign Het
Coro1b T A 19: 4,199,384 (GRCm39) H14Q probably damaging Het
Ctdp1 T A 18: 80,451,901 (GRCm39) D158V unknown Het
Cts7 A T 13: 61,503,545 (GRCm39) S140T probably damaging Het
Dlgap3 T A 4: 127,089,502 (GRCm39) L366* probably null Het
Dnah9 C T 11: 65,976,036 (GRCm39) A1338T probably benign Het
Dock7 T C 4: 98,952,199 (GRCm39) I424V probably benign Het
Dock8 G T 19: 25,109,490 (GRCm39) A891S probably benign Het
Dync2i1 A G 12: 116,219,865 (GRCm39) S26P possibly damaging Het
Elmod3 A G 6: 72,571,721 (GRCm39) probably null Het
Eps15 G A 4: 109,218,507 (GRCm39) E107K probably damaging Het
Esco1 A T 18: 10,593,744 (GRCm39) probably null Het
Fuz A G 7: 44,549,742 (GRCm39) T407A probably damaging Het
Galr1 A T 18: 82,424,197 (GRCm39) F27I probably benign Het
Glt1d1 A G 5: 127,754,344 (GRCm39) Y182C probably damaging Het
Gm37240 A T 3: 84,597,828 (GRCm39) probably benign Het
Gm37610 A G 6: 41,061,848 (GRCm39) noncoding transcript Het
Gm6658 G T 8: 91,635,020 (GRCm39) probably benign Het
Gm9376 A G 14: 118,504,789 (GRCm39) T74A possibly damaging Het
Hadha G A 5: 30,349,284 (GRCm39) S109F possibly damaging Het
Herc3 A T 6: 58,893,435 (GRCm39) Q899L probably benign Het
Ift172 C T 5: 31,434,284 (GRCm39) E485K probably benign Het
Lrrc8e A G 8: 4,285,725 (GRCm39) K650R possibly damaging Het
Ly6d A T 15: 74,635,381 (GRCm39) V10D possibly damaging Het
Med27 A G 2: 29,279,823 (GRCm39) probably null Het
Med29 A T 7: 28,091,922 (GRCm39) V56E probably damaging Het
Mobp A G 9: 119,996,919 (GRCm39) K17E probably damaging Het
Mrpl37 G A 4: 106,923,919 (GRCm39) T25I probably benign Het
Myh1 A G 11: 67,092,805 (GRCm39) D33G possibly damaging Het
Nrg3 T A 14: 39,194,586 (GRCm39) I58F possibly damaging Het
Or52e2 A G 7: 102,804,948 (GRCm39) I2T probably benign Het
Or7e176 A G 9: 20,171,874 (GRCm39) D246G probably benign Het
Padi1 T A 4: 140,553,892 (GRCm39) D359V probably benign Het
Pcdh7 T C 5: 57,877,753 (GRCm39) V436A possibly damaging Het
Pgm3 C A 9: 86,452,414 (GRCm39) K15N probably damaging Het
Phip A T 9: 82,790,730 (GRCm39) probably benign Het
Pot1a G A 6: 25,778,950 (GRCm39) T48I possibly damaging Het
Ppic T C 18: 53,542,333 (GRCm39) K125R probably benign Het
Ppm1j T C 3: 104,692,811 (GRCm39) V440A possibly damaging Het
Prg4 T A 1: 150,331,300 (GRCm39) K458* probably null Het
Rd3 A T 1: 191,717,261 (GRCm39) M244L probably benign Het
Rflnb A G 11: 75,912,864 (GRCm39) Y175H probably benign Het
Rnf157 T A 11: 116,237,900 (GRCm39) S574C probably benign Het
Sardh A G 2: 27,110,653 (GRCm39) probably null Het
Senp3 C T 11: 69,569,048 (GRCm39) probably null Het
Siglec1 G A 2: 130,914,767 (GRCm39) R1450C probably damaging Het
Sim2 A G 16: 93,924,193 (GRCm39) H446R probably damaging Het
Spon1 T C 7: 113,631,021 (GRCm39) I444T probably damaging Het
Srebf1 T A 11: 60,094,410 (GRCm39) Q568H possibly damaging Het
Stxbp4 A T 11: 90,428,782 (GRCm39) I441N possibly damaging Het
Sugt1 G A 14: 79,846,451 (GRCm39) V163I probably benign Het
Surf1 G T 2: 26,806,271 (GRCm39) probably benign Het
Synj2 A G 17: 6,088,128 (GRCm39) E1348G probably benign Het
Tc2n A T 12: 101,619,111 (GRCm39) V349D probably damaging Het
Ten1 A G 11: 116,105,751 (GRCm39) R112G possibly damaging Het
Tm9sf4 A G 2: 153,036,201 (GRCm39) D321G probably damaging Het
Ttll12 A T 15: 83,461,237 (GRCm39) M594K probably damaging Het
Ttn T A 2: 76,703,058 (GRCm39) probably benign Het
Usp28 C T 9: 48,937,285 (GRCm39) Q185* probably null Het
Vmn2r112 A G 17: 22,838,004 (GRCm39) I822V probably benign Het
Zc3hc1 A T 6: 30,382,682 (GRCm39) L88* probably null Het
Zfr T A 15: 12,160,701 (GRCm39) V758D probably damaging Het
Zfyve27 T G 19: 42,160,110 (GRCm39) L42R 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
IGL02604:Arfgef1 APN 1 10,251,275 (GRCm39) splice site probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AACAGAGGACCCTGTCTTAAAC -3'
(R):5'- TTTATTCCCAAGCGAGCCC -3'

Sequencing Primer
(F):5'- GAGGACCCTGTCTTAAACAAACAC -3'
(R):5'- GAGCCCTTACCCAGATGCAG -3'
Posted On 2017-02-10