Incidental Mutation 'R1212:Arfgef1'
ID 99422
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 039281-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1212 (G1)
Quality Score 225
Status Not validated
Chromosome 1
Chromosomal Location 10207796-10302895 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 10286784 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 42 (E42G)
Ref Sequence ENSEMBL: ENSMUSP00000118805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088615] [ENSMUST00000131556]
AlphaFold G3X9K3
Predicted Effect probably benign
Transcript: ENSMUST00000088615
AA Change: E42G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000085986
Gene: ENSMUSG00000067851
AA Change: E42G

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
AA Change: E42G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000118805
Gene: ENSMUSG00000067851
AA Change: E42G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186720
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.4%
  • 10x: 93.2%
  • 20x: 82.9%
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: 14 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ambra1 G A 2: 91,599,381 (GRCm39) R167H possibly damaging Het
Ankrd50 G A 3: 38,509,836 (GRCm39) R844C probably damaging Het
Arhgap42 T A 9: 9,015,313 (GRCm39) I444F probably damaging Het
Cspg4b G A 13: 113,505,951 (GRCm39) probably benign Het
Ift56 A G 6: 38,387,728 (GRCm39) D393G probably damaging Het
Ift70a2 A T 2: 75,806,823 (GRCm39) I563N probably damaging Het
Il25 G A 14: 55,170,212 (GRCm39) probably benign Het
Jak1 A G 4: 101,046,291 (GRCm39) L105P probably damaging Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Ralgapa2 A G 2: 146,199,902 (GRCm39) V1214A probably benign Het
Shtn1 T C 19: 59,039,322 (GRCm39) D39G probably damaging Het
Supt16 G A 14: 52,411,581 (GRCm39) R601* probably null Het
Vmn1r113 A T 7: 20,521,356 (GRCm39) R49S probably benign Het
Vmn1r64 C T 7: 5,887,210 (GRCm39) S111N probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- CTCAAGAGATCTGCAAGGGTGGAC -3'
(R):5'- AGTAATCTTCCTGAGAGGCACAGAGTG -3'

Sequencing Primer
(F):5'- TGCTGGACACAACATGCATTTC -3'
(R):5'- acacacacacacacacacac -3'
Posted On 2014-01-15