Incidental Mutation 'IGL02094:Arl3'
ID279548
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl3
Ensembl Gene ENSMUSG00000025035
Gene NameADP-ribosylation factor-like 3
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02094
Quality Score
Status
Chromosome19
Chromosomal Location46531109-46573085 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 46558341 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 15 (D15G)
Ref Sequence ENSEMBL: ENSMUSP00000026009 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026009]
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
AA Change: D15G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000026009
Gene: ENSMUSG00000025035
AA Change: D15G

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 T C 8: 55,871,445 N658S possibly damaging Het
Adcy10 T C 1: 165,570,620 Y1429H probably damaging Het
Aebp1 G A 11: 5,868,357 M98I probably benign Het
Casp2 T A 6: 42,280,359 I414N probably damaging Het
Ceacam1 T C 7: 25,474,543 D229G probably damaging Het
Cog7 G T 7: 121,963,247 A234E probably benign Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp3a59 A T 5: 146,104,821 T392S probably benign Het
Ebf2 G A 14: 67,235,240 V36M possibly damaging Het
Fbxw15 A C 9: 109,558,240 V229G possibly damaging Het
Got1l1 A G 8: 27,199,845 V171A probably benign Het
Itgax A G 7: 128,131,473 Y121C probably damaging Het
Kcng4 C A 8: 119,633,221 A139S probably damaging Het
Kcnj9 G T 1: 172,325,708 T283K probably damaging Het
Mgl2 T A 11: 70,137,097 I377K possibly damaging Het
Myo15 T C 11: 60,510,647 probably benign Het
Nod1 A T 6: 54,939,390 probably null Het
Nr1h5 A T 3: 102,952,196 C182* probably null Het
Nup210l G T 3: 90,180,213 probably null Het
Ptbp2 G A 3: 119,752,940 probably benign Het
Ptpn13 T G 5: 103,594,617 F2401V probably damaging Het
Rbbp6 T C 7: 122,997,262 S676P probably damaging Het
Recql4 T A 15: 76,709,517 Q131L probably benign Het
Sbno2 G A 10: 80,057,645 P1274L probably benign Het
Sec24c T C 14: 20,688,402 V341A probably damaging Het
Smc1b A T 15: 85,097,891 probably benign Het
Sptbn1 T C 11: 30,100,659 H2310R probably benign Het
Tas2r109 T A 6: 132,980,239 I243F possibly damaging Het
Trpc1 A C 9: 95,743,281 D97E probably damaging Het
Trpm2 G A 10: 77,942,996 Q379* probably null Het
Ttn A G 2: 76,818,823 probably benign Het
Vmn2r74 A T 7: 85,961,461 F8I probably benign Het
Zfp36 C T 7: 28,377,763 S240N probably benign Het
Zfp65 A G 13: 67,708,185 I325T possibly damaging Het
Other mutations in Arl3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02109:Arl3 APN 19 46542346 splice site probably benign
R8006:Arl3 UTSW 19 46558374 missense probably damaging 1.00
R8406:Arl3 UTSW 19 46542384 missense probably benign 0.01
R8458:Arl3 UTSW 19 46558270 missense probably benign
Posted On2015-04-16