Incidental Mutation 'R9174:Arf1'
ID 696586
Institutional Source Beutler Lab
Gene Symbol Arf1
Ensembl Gene ENSMUSG00000048076
Gene Name ADP-ribosylation factor 1
Synonyms
MMRRC Submission 068977-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9174 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 59102237-59119042 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 59103433 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 158 (T158I)
Ref Sequence ENSEMBL: ENSMUSP00000079905 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020719] [ENSMUST00000061242] [ENSMUST00000163300]
AlphaFold P84078
PDB Structure Crystal structure of mouse ARF1 (delta17-Q71L), GTP form [X-RAY DIFFRACTION]
CRYSTAL STRUCTURE OF THE ARF1:ARHGAP21-ARFBD COMPLEX [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000020719
SMART Domains Protein: ENSMUSP00000020719
Gene: ENSMUSG00000020441

DomainStartEndE-ValueType
Pfam:MMtag 8 83 5.7e-34 PFAM
low complexity region 117 135 N/A INTRINSIC
low complexity region 180 208 N/A INTRINSIC
low complexity region 215 224 N/A INTRINSIC
low complexity region 250 260 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000061242
AA Change: T158I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079905
Gene: ENSMUSG00000048076
AA Change: T158I

DomainStartEndE-ValueType
ARF 1 181 2.34e-143 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000163300
AA Change: T158I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000126120
Gene: ENSMUSG00000048076
AA Change: T158I

DomainStartEndE-ValueType
ARF 1 181 2.34e-143 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (33/33)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factor 1 (ARF1) is a member of the human ARF gene family. The family members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking as activators of phospholipase D. The gene products, including 6 ARF proteins and 11 ARF-like proteins, constitute a family of the RAS superfamily. The ARF proteins are categorized as class I (ARF1, ARF2 and ARF3), class II (ARF4 and ARF5) and class III (ARF6), and members of each class share a common gene organization. The ARF1 protein is localized to the Golgi apparatus and has a central role in intra-Golgi transport. Multiple alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous embryos die in utero shortly after implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akap1 A G 11: 88,725,991 (GRCm39) Y737H probably damaging Het
Arap2 A T 5: 62,855,606 (GRCm39) V610E probably damaging Het
Atat1 T C 17: 36,220,032 (GRCm39) K90R probably benign Het
Cfap70 C A 14: 20,493,706 (GRCm39) G132W probably damaging Het
Cpne9 T A 6: 113,279,032 (GRCm39) D475E probably damaging Het
Dapp1 T C 3: 137,638,916 (GRCm39) D270G probably benign Het
Dnajc21 A T 15: 10,462,076 (GRCm39) Y108* probably null Het
Etv4 A G 11: 101,662,705 (GRCm39) probably null Het
Fes C A 7: 80,030,631 (GRCm39) V555F probably damaging Het
Gm14496 A C 2: 181,642,797 (GRCm39) I823L possibly damaging Het
H2-M9 A C 17: 36,953,181 (GRCm39) L42R probably damaging Het
Ifitm2 A T 7: 140,535,013 (GRCm39) I107N probably damaging Het
Impg1 T C 9: 80,252,750 (GRCm39) T477A probably damaging Het
Inca1 G A 11: 70,580,732 (GRCm39) P78S possibly damaging Het
Khk A G 5: 31,085,819 (GRCm39) E126G probably benign Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Mars1 A T 10: 127,135,237 (GRCm39) I618N probably damaging Het
Mgl2 C A 11: 70,026,606 (GRCm39) F110L probably benign Het
Mon1b A G 8: 114,365,689 (GRCm39) D339G probably damaging Het
Pfdn2 G C 1: 171,184,164 (GRCm39) E48Q probably damaging Het
Pilra A G 5: 137,833,898 (GRCm39) I56T probably damaging Het
Ptpru A T 4: 131,535,746 (GRCm39) N410K probably damaging Het
Sema3c T C 5: 17,868,039 (GRCm39) probably null Het
Skic3 A G 13: 76,295,893 (GRCm39) E1052G probably benign Het
Stau1 A G 2: 166,791,269 (GRCm39) C495R probably damaging Het
Ubap1l T A 9: 65,284,289 (GRCm39) H339Q probably benign Het
Urb2 A G 8: 124,767,987 (GRCm39) D1411G possibly damaging Het
Ush2a T A 1: 188,460,416 (GRCm39) I2559N probably damaging Het
Vipas39 A T 12: 87,305,885 (GRCm39) S103T possibly damaging Het
Vrk1 G A 12: 106,002,811 (GRCm39) R3H probably benign Het
Wdr46 G T 17: 34,167,668 (GRCm39) R493L possibly damaging Het
Zbtb8a T C 4: 129,254,125 (GRCm39) D123G probably damaging Het
Other mutations in Arf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02250:Arf1 APN 11 59,103,993 (GRCm39) missense probably benign 0.00
IGL03268:Arf1 APN 11 59,103,663 (GRCm39) missense possibly damaging 0.49
R0747:Arf1 UTSW 11 59,103,461 (GRCm39) missense probably benign
R5338:Arf1 UTSW 11 59,104,041 (GRCm39) missense probably damaging 1.00
R6633:Arf1 UTSW 11 59,103,370 (GRCm39) missense probably benign
R9213:Arf1 UTSW 11 59,104,186 (GRCm39) missense probably damaging 1.00
X0028:Arf1 UTSW 11 59,103,661 (GRCm39) missense probably benign 0.15
Predicted Primers PCR Primer
(F):5'- AGACAGCTTCTGGCACTCAG -3'
(R):5'- GTTTGCCAACAAGCAGGTAGG -3'

Sequencing Primer
(F):5'- TTCTGGCACTCAGGACCACAG -3'
(R):5'- AGCAAGGTCCTTCCCTGAAG -3'
Posted On 2022-02-07