Incidental Mutation 'IGL01325:Arl6ip5'
ID 74227
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 # IGL01325
Quality Score
Status
Chromosome 6
Chromosomal Location 97187753-97210276 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 97209501 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 179 (F179L)
Ref Sequence ENSEMBL: ENSMUSP00000041503 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044681]
AlphaFold Q8R5J9
Predicted Effect probably benign
Transcript: ENSMUST00000044681
AA Change: F179L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000041503
Gene: ENSMUSG00000035199
AA Change: F179L

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T C 13: 61,001,347 (GRCm39) T127A probably damaging Het
Acrv1 T A 9: 36,609,810 (GRCm39) M227K probably benign Het
Adam22 T C 5: 8,177,333 (GRCm39) N592S probably benign Het
Adamts15 T A 9: 30,832,984 (GRCm39) I184F possibly damaging Het
Adcy1 T C 11: 7,014,102 (GRCm39) V168A possibly damaging Het
Asxl2 G T 12: 3,477,172 (GRCm39) R6L probably damaging Het
Btaf1 T A 19: 36,982,049 (GRCm39) probably benign Het
Ccdc136 T C 6: 29,412,949 (GRCm39) F445L probably benign Het
Cpne3 T C 4: 19,535,229 (GRCm39) S268G probably benign Het
Crtc3 C T 7: 80,327,116 (GRCm39) R70Q probably damaging Het
Fam169a C A 13: 97,259,207 (GRCm39) A421E probably benign Het
Fhod1 A T 8: 106,058,281 (GRCm39) M825K probably benign Het
Gjb2 T C 14: 57,337,678 (GRCm39) T177A probably benign Het
Gm6576 A G 15: 27,025,970 (GRCm39) noncoding transcript Het
Herpud2 A G 9: 25,025,207 (GRCm39) V175A probably benign Het
Hmgxb3 T C 18: 61,267,078 (GRCm39) D1052G probably damaging Het
Itpr1 T A 6: 108,358,169 (GRCm39) F578L probably benign Het
Kdm7a T G 6: 39,135,243 (GRCm39) probably benign Het
Krt76 A T 15: 101,793,323 (GRCm39) S572T unknown Het
Lrrcc1 T C 3: 14,601,601 (GRCm39) probably null Het
Marchf9 A C 10: 126,893,459 (GRCm39) V183G probably damaging Het
Mrtfb T C 16: 13,219,088 (GRCm39) V578A probably damaging Het
Ndufaf6 A T 4: 11,070,251 (GRCm39) D123E probably benign Het
Nhlh2 T G 3: 101,920,342 (GRCm39) Y125D probably damaging Het
Nol4l A G 2: 153,278,271 (GRCm39) probably benign Het
Npas1 C T 7: 16,197,247 (GRCm39) G206D probably benign Het
Or52h9 T C 7: 104,202,896 (GRCm39) F257L probably damaging Het
Or5ak24 C A 2: 85,260,639 (GRCm39) C178F possibly damaging Het
Pcdhb4 T A 18: 37,442,676 (GRCm39) V662E probably damaging Het
Plxna3 G A X: 73,379,400 (GRCm39) G758S probably damaging Het
Prdm15 T A 16: 97,607,717 (GRCm39) N709Y probably damaging Het
Pygo2 C T 3: 89,339,753 (GRCm39) probably benign Het
Ranbp2 T A 10: 58,312,120 (GRCm39) S947T probably damaging Het
Rasgrp1 T A 2: 117,129,010 (GRCm39) H203L probably damaging Het
Rbbp6 G A 7: 122,587,841 (GRCm39) G270R probably damaging Het
Rcl1 A G 19: 29,098,662 (GRCm39) probably null Het
Rpl23a-ps1 T C 1: 46,020,793 (GRCm39) noncoding transcript Het
Serpinb7 T G 1: 107,363,110 (GRCm39) H91Q probably damaging Het
Shd C T 17: 56,279,839 (GRCm39) P111S possibly damaging Het
Slc35e1 G T 8: 73,237,602 (GRCm39) probably benign Het
Srgap3 C T 6: 112,752,647 (GRCm39) R279H probably damaging Het
Sstr4 G A 2: 148,237,472 (GRCm39) E28K probably benign Het
Stip1 T C 19: 6,998,464 (GRCm39) probably benign Het
Syne2 A G 12: 75,973,288 (GRCm39) E1097G probably benign Het
Tbcd T A 11: 121,431,819 (GRCm39) V489E probably damaging Het
Tnks2 T A 19: 36,849,033 (GRCm39) S516R probably benign Het
Trmt44 T A 5: 35,726,147 (GRCm39) R343S possibly damaging Het
Trps1 A G 15: 50,710,210 (GRCm39) S47P probably benign Het
Ubr3 A C 2: 69,747,441 (GRCm39) K235Q possibly damaging Het
Uckl1 G A 2: 181,216,754 (GRCm39) Q48* probably null Het
Vat1 T C 11: 101,356,541 (GRCm39) D140G probably benign Het
Vmn2r80 A G 10: 79,030,081 (GRCm39) T636A possibly damaging Het
Zfp423 A T 8: 88,508,239 (GRCm39) probably null Het
Zfp667 C A 7: 6,293,545 (GRCm39) T15N probably damaging Het
Other mutations in Arl6ip5
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01530:Arl6ip5 APN 6 97,187,785 (GRCm39) missense possibly damaging 0.83
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 2013-10-07