Incidental Mutation 'IGL01387:Arf4'
ID 79087
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arf4
Ensembl Gene ENSMUSG00000021877
Gene Name ADP-ribosylation factor 4
Synonyms
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01387
Quality Score
Status
Chromosome 14
Chromosomal Location 26359289-26377997 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 26374300 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 73 (I73F)
Ref Sequence ENSEMBL: ENSMUSP00000107937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022429] [ENSMUST00000112318] [ENSMUST00000166075]
AlphaFold P61750
Predicted Effect possibly damaging
Transcript: ENSMUST00000022429
AA Change: I100F

PolyPhen 2 Score 0.481 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000022429
Gene: ENSMUSG00000021877
AA Change: I100F

DomainStartEndE-ValueType
ARF 1 180 2.21e-121 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000112318
AA Change: I73F

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107937
Gene: ENSMUSG00000021877
AA Change: I73F

DomainStartEndE-ValueType
ARF 1 153 4.77e-85 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000166075
SMART Domains Protein: ENSMUSP00000132159
Gene: ENSMUSG00000021877

DomainStartEndE-ValueType
Pfam:Arf 5 55 2.5e-17 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000167376
AA Change: I5F
SMART Domains Protein: ENSMUSP00000127272
Gene: ENSMUSG00000021877
AA Change: I5F

DomainStartEndE-ValueType
Pfam:Arf 1 60 4.2e-16 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171207
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171282
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the human ARF gene family whose members encode small guanine nucleotide-binding proteins that stimulate the ADP-ribosyltransferase activity of cholera toxin and play a role in vesicular trafficking and as activators of phospholipase D. The gene products include 5 ARF proteins and 11 ARF-like proteins and constitute one family of the RAS superfamily. The ARF proteins are categorized as class I, class II and class III; this gene is a class II member. The members of each class share a common gene organization. The ARF4 gene spans approximately 12kb and contains six exons and five introns. This gene is the most divergent member of the human ARFs. Conflicting map positions at 3p14 or 3p21 have been reported for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit embryonic lethality. Mice heterozygous for the gene trap allele exhibit failure to increase exploration of an object in a novel context, reduced spine density and reduced mESPC amplitudes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,835,596 (GRCm39) I288T possibly damaging Het
Akr1c13 T A 13: 4,247,794 (GRCm39) probably null Het
Ano2 T C 6: 125,990,240 (GRCm39) L787P probably damaging Het
Atp6v1e1 A G 6: 120,772,732 (GRCm39) probably null Het
Ccdc9 A C 7: 16,018,424 (GRCm39) M1R probably null Het
Cep162 A G 9: 87,093,864 (GRCm39) L838S probably benign Het
Cfap251 T A 5: 123,421,609 (GRCm39) I654N probably damaging Het
Cfi T A 3: 129,668,562 (GRCm39) probably benign Het
Creb3l3 T C 10: 80,927,110 (GRCm39) T107A probably benign Het
Erlin2 T C 8: 27,526,576 (GRCm39) L312P probably benign Het
Etv1 T G 12: 38,911,326 (GRCm39) M384R probably damaging Het
Exph5 G T 9: 53,285,265 (GRCm39) S782I possibly damaging Het
Fsd1 C T 17: 56,303,733 (GRCm39) S491F probably damaging Het
Fsip2 A G 2: 82,823,326 (GRCm39) N6353S possibly damaging Het
Gk5 T C 9: 96,059,607 (GRCm39) probably null Het
Gm11168 T G 9: 3,005,128 (GRCm39) S202R possibly damaging Het
Hdlbp T C 1: 93,341,310 (GRCm39) D1016G possibly damaging Het
Kpna4 A G 3: 69,009,590 (GRCm39) probably benign Het
Lrrn2 T C 1: 132,866,096 (GRCm39) V387A possibly damaging Het
Or4a76 T A 2: 89,460,964 (GRCm39) R93* probably null Het
Or5bw2 A G 7: 6,573,854 (GRCm39) Y288C probably damaging Het
Or6c33 T A 10: 129,853,710 (GRCm39) M160K probably damaging Het
Or8g23 A G 9: 38,971,617 (GRCm39) L115S probably damaging Het
Or8k37 T C 2: 86,469,594 (GRCm39) T153A probably benign Het
Plekhs1 A G 19: 56,459,403 (GRCm39) Q51R probably benign Het
Rab27b T A 18: 70,118,380 (GRCm39) D179V possibly damaging Het
Rprd2 C T 3: 95,672,631 (GRCm39) R924H probably benign Het
Shprh T C 10: 11,045,998 (GRCm39) I905T probably damaging Het
Trpm8 T C 1: 88,271,009 (GRCm39) L433P probably damaging Het
Urb1 A G 16: 90,554,649 (GRCm39) L1861S possibly damaging Het
Vmn2r124 C A 17: 18,283,188 (GRCm39) T294K probably damaging Het
Znrf3 A T 11: 5,288,656 (GRCm39) C37* probably null Het
Other mutations in Arf4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01401:Arf4 APN 14 26,359,609 (GRCm39) missense probably damaging 0.98
R1879:Arf4 UTSW 14 26,368,076 (GRCm39) missense probably damaging 1.00
R4670:Arf4 UTSW 14 26,374,248 (GRCm39) unclassified probably benign
R5905:Arf4 UTSW 14 26,375,079 (GRCm39) missense probably benign 0.03
R8256:Arf4 UTSW 14 26,377,126 (GRCm39) missense probably benign 0.00
R8753:Arf4 UTSW 14 26,374,114 (GRCm39) unclassified probably benign
Posted On 2013-11-05