Incidental Mutation 'IGL01530:Arl6ip5'
ID 89724
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl6ip5
Ensembl Gene ENSMUSG00000035199
Gene Name ADP-ribosylation factor-like 6 interacting protein 5
Synonyms 5930404D22Rik, Aip-5, Gtrap3-18, addiscin
Accession Numbers
Essential gene? Probably non essential (E-score: 0.123) question?
Stock # IGL01530
Quality Score
Status
Chromosome 6
Chromosomal Location 97187753-97210276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 97187785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Asparagine at position 2 (D2N)
Ref Sequence ENSEMBL: ENSMUSP00000041503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044681]
AlphaFold Q8R5J9
Predicted Effect possibly damaging
Transcript: ENSMUST00000044681
AA Change: D2N

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041503
Gene: ENSMUSG00000035199
AA Change: D2N

DomainStartEndE-ValueType
Pfam:PRA1 3 150 9.9e-42 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Expression of this gene is affected by vitamin A. The encoded protein of this gene may be associated with the cytoskeleton. A similar protein in rats may play a role in the regulation of cell differentiation. The rat protein binds and inhibits the cell membrane glutamate transporter EAAC1. The expression of the rat gene is upregulated by retinoic acid, which results in a specific reduction in EAAC1-mediated glutamate transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased resistance to oxidative stress hypoactivity, enhanced motor coordination and learning, and enhanced spatial working memory. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acin1 G A 14: 54,881,443 (GRCm39) R1117W probably damaging Het
Acox2 T G 14: 8,246,363 (GRCm38) Y476S probably damaging Het
Ces2h A G 8: 105,741,116 (GRCm39) H36R probably benign Het
Cfap44 C A 16: 44,269,530 (GRCm39) A1178E probably damaging Het
Clmn T A 12: 104,758,115 (GRCm39) I134F probably damaging Het
Col6a5 A G 9: 105,792,385 (GRCm39) probably benign Het
Csmd1 C T 8: 15,953,195 (GRCm39) E3429K probably damaging Het
Csmd2 A G 4: 128,308,094 (GRCm39) D1284G possibly damaging Het
Csmd3 C T 15: 47,701,833 (GRCm39) G1750E possibly damaging Het
Csmd3 T G 15: 47,533,013 (GRCm39) D2516A probably damaging Het
Depdc1a C T 3: 159,229,560 (GRCm39) H631Y probably damaging Het
Fat2 A T 11: 55,174,213 (GRCm39) S2167T probably benign Het
Flii G A 11: 60,611,008 (GRCm39) R474* probably null Het
Hmcn2 A C 2: 31,244,276 (GRCm39) D687A possibly damaging Het
Hrh4 A G 18: 13,149,004 (GRCm39) probably benign Het
Hsd3b5 G A 3: 98,526,439 (GRCm39) R336C probably damaging Het
Igkv5-39 T A 6: 69,877,459 (GRCm39) E79V probably damaging Het
Iqgap3 G A 3: 88,019,610 (GRCm39) probably null Het
Irak3 G A 10: 119,978,699 (GRCm39) S492F probably benign Het
Kif14 T A 1: 136,406,157 (GRCm39) probably benign Het
Kmt2c T C 5: 25,518,498 (GRCm39) I2394V probably benign Het
Lama1 C T 17: 68,103,785 (GRCm39) A2002V probably benign Het
Map3k19 T C 1: 127,749,841 (GRCm39) E1170G probably damaging Het
Mdn1 T C 4: 32,711,938 (GRCm39) probably benign Het
Mpo G T 11: 87,692,017 (GRCm39) M483I probably benign Het
Neu3 T C 7: 99,462,953 (GRCm39) S257G probably benign Het
Nhsl3 G A 4: 129,116,589 (GRCm39) probably null Het
Niban3 A T 8: 72,056,561 (GRCm39) probably benign Het
Nup214 A G 2: 31,923,733 (GRCm39) T1421A probably benign Het
Pbx1 T C 1: 168,018,873 (GRCm39) N324S probably benign Het
Pcbp2 T C 15: 102,392,601 (GRCm39) S5P probably benign Het
Pds5b A G 5: 150,715,640 (GRCm39) I511V probably benign Het
Pdzph1 C T 17: 59,229,710 (GRCm39) D983N probably damaging Het
Phldb2 A C 16: 45,623,092 (GRCm39) D651E probably damaging Het
Pkhd1 A G 1: 20,629,643 (GRCm39) probably null Het
Plxnb1 A G 9: 108,939,473 (GRCm39) D1406G probably benign Het
Rhebl1 T C 15: 98,777,367 (GRCm39) D65G probably damaging Het
Smpdl3a A G 10: 57,683,989 (GRCm39) H249R probably damaging Het
Sorbs1 T C 19: 40,365,091 (GRCm39) T231A probably benign Het
Tmem232 G A 17: 65,563,543 (GRCm39) Q617* probably null Het
Trim62 A G 4: 128,778,252 (GRCm39) D97G probably benign Het
Tsc2 T C 17: 24,841,636 (GRCm39) T328A possibly damaging Het
Ugt2b5 C T 5: 87,285,104 (GRCm39) V278I probably benign Het
Usp4 T C 9: 108,240,099 (GRCm39) probably null Het
Vdac3-ps1 C T 13: 18,206,091 (GRCm39) noncoding transcript Het
Wwc2 T A 8: 48,316,974 (GRCm39) R706S unknown Het
Xpot A C 10: 121,447,433 (GRCm39) I114S probably damaging Het
Zfp777 T A 6: 48,020,918 (GRCm39) S279C probably damaging Het
Other mutations in Arl6ip5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Arl6ip5 APN 6 97,209,501 (GRCm39) missense probably benign
IGL01701:Arl6ip5 APN 6 97,187,774 (GRCm39) utr 5 prime probably benign
IGL02028:Arl6ip5 APN 6 97,206,611 (GRCm39) missense probably damaging 1.00
IGL02724:Arl6ip5 APN 6 97,209,365 (GRCm39) missense probably benign 0.00
R0355:Arl6ip5 UTSW 6 97,209,378 (GRCm39) missense probably damaging 1.00
R2255:Arl6ip5 UTSW 6 97,209,361 (GRCm39) missense probably damaging 1.00
R5436:Arl6ip5 UTSW 6 97,187,887 (GRCm39) missense probably damaging 1.00
R9012:Arl6ip5 UTSW 6 97,187,838 (GRCm39) missense probably benign 0.00
R9586:Arl6ip5 UTSW 6 97,206,572 (GRCm39) missense possibly damaging 0.79
Z1176:Arl6ip5 UTSW 6 97,206,516 (GRCm39) missense probably benign 0.00
Posted On 2013-12-03