Incidental Mutation 'IGL02109:Arl3'
ID 281167
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl3
Ensembl Gene ENSMUSG00000025035
Gene Name ADP-ribosylation factor-like 3
Synonyms
Accession Numbers
Essential gene? Not available question?
Stock # IGL02109
Quality Score
Status
Chromosome 19
Chromosomal Location 46519548-46561621 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 46530785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000026009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026009]
AlphaFold Q9WUL7
PDB Structure CRYSTAL STRUCTURE OF MURINE ARL3-GDP [X-RAY DIFFRACTION]
Crystal structure of the RP2-Arl3 complex bound to GppNHp [X-RAY DIFFRACTION]
Crystal structure of the RP2-Arl3 complex bound to GDP-AlF4 [X-RAY DIFFRACTION]
Predicted Effect probably benign
Transcript: ENSMUST00000026009
SMART Domains Protein: ENSMUSP00000026009
Gene: ENSMUSG00000025035

DomainStartEndE-ValueType
ARF 1 181 2.2e-57 SMART
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 factor-like 3 is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL3 binds guanine nucleotides but lacks ADP-ribosylation factor activity. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele are born at sub-Mendelian ratios, are small and sickly, fail to thrive, and die by 3 weeks of age exhibiting photoreceptor degeneration and abnormal epithelial cell proliferation and cyst formation in the kidney,liver, and pancreatic tubule structures. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank1 T A 8: 23,586,200 (GRCm39) N427K probably damaging Het
Ano10 C T 9: 122,090,408 (GRCm39) E302K probably damaging Het
Clec14a T A 12: 58,314,934 (GRCm39) E229D probably benign Het
Ctbp1 T C 5: 33,424,312 (GRCm39) D26G probably damaging Het
Flt3 G T 5: 147,287,491 (GRCm39) H671N probably benign Het
Fras1 A G 5: 96,848,382 (GRCm39) D1799G probably benign Het
Il20ra G A 10: 19,635,253 (GRCm39) G498D possibly damaging Het
Kcnu1 T G 8: 26,427,727 (GRCm39) L348R possibly damaging Het
Lrpprc A T 17: 85,033,998 (GRCm39) L999* probably null Het
Myt1 T G 2: 181,457,410 (GRCm39) probably benign Het
N4bp2 C T 5: 65,955,477 (GRCm39) T467M probably damaging Het
Nup98 T C 7: 101,832,693 (GRCm39) T355A probably benign Het
Ocstamp A T 2: 165,239,256 (GRCm39) V310E possibly damaging Het
Or4k39 T G 2: 111,238,838 (GRCm39) noncoding transcript Het
Or8b3 T C 9: 38,314,382 (GRCm39) F71L possibly damaging Het
Plcb1 C A 2: 134,628,479 (GRCm39) H9Q probably damaging Het
Plxna4 T A 6: 32,192,576 (GRCm39) Q795L probably benign Het
Pms1 A G 1: 53,246,568 (GRCm39) S324P probably damaging Het
Pnldc1 G T 17: 13,124,425 (GRCm39) H143Q probably benign Het
Ppp1r12b A G 1: 134,800,543 (GRCm39) probably null Het
Ryr3 A G 2: 112,779,502 (GRCm39) F250L probably benign Het
Scgn T C 13: 24,137,948 (GRCm39) D241G possibly damaging Het
St8sia4 T C 1: 95,588,617 (GRCm39) I73V possibly damaging Het
Tle3 T A 9: 61,320,332 (GRCm39) C595S probably damaging Het
Tmem209 T C 6: 30,497,944 (GRCm39) Y117C probably damaging Het
Tshr T A 12: 91,504,766 (GRCm39) I568N probably damaging Het
Ttll10 C T 4: 156,131,937 (GRCm39) D22N probably benign Het
Ttn A T 2: 76,640,202 (GRCm39) V13802E probably damaging Het
Other mutations in Arl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02094:Arl3 APN 19 46,546,780 (GRCm39) missense probably benign
R8006:Arl3 UTSW 19 46,546,813 (GRCm39) missense probably damaging 1.00
R8406:Arl3 UTSW 19 46,530,823 (GRCm39) missense probably benign 0.01
R8458:Arl3 UTSW 19 46,546,709 (GRCm39) missense probably benign
R9312:Arl3 UTSW 19 46,531,964 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16