Incidental Mutation 'IGL01695:Arl5a'
ID 104239
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl5a
Ensembl Gene ENSMUSG00000036093
Gene Name ADP-ribosylation factor-like 5A
Synonyms Arl5, 2410015N24Rik, 2810410P22Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # IGL01695
Quality Score
Status
Chromosome 2
Chromosomal Location 52397951-52424901 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52412105 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 99 (I99N)
Ref Sequence ENSEMBL: ENSMUSP00000041756 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036541]
AlphaFold Q80ZU0
Predicted Effect probably damaging
Transcript: ENSMUST00000036541
AA Change: I99N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041756
Gene: ENSMUSG00000036093
AA Change: I99N

DomainStartEndE-ValueType
ARF 1 179 3.11e-66 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130357
Meta Mutation Damage Score 0.9129 question?
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ARF family of GTP-binding proteins. With its distinctive nuclear/nucleolar localization and interaction with HP1alpha, the protein is developmentally regulated and may play a role(s) in nuclear dynamics and/or signaling cascades during embryonic development. Alternative splicing results in multiple transcript variants encoding different isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,265,193 V177A probably benign Het
Ap3b2 T A 7: 81,476,939 probably benign Het
Arfgef3 T C 10: 18,603,419 T1483A probably benign Het
Bahcc1 G A 11: 120,276,609 G1279R probably benign Het
Bbs5 A G 2: 69,649,090 N43S probably damaging Het
Cdh23 C T 10: 60,331,833 V1795M probably benign Het
Cep350 T C 1: 155,944,158 E353G probably damaging Het
Cps1 A T 1: 67,197,035 I976L probably benign Het
Ctdp1 A T 18: 80,449,626 S551R probably damaging Het
Cyp2b19 C T 7: 26,759,064 T68I probably damaging Het
Esr2 A G 12: 76,145,319 S312P probably damaging Het
Fam26e A G 10: 34,092,202 V285A possibly damaging Het
Gm11639 A T 11: 104,736,063 E864D probably damaging Het
Gm6408 A G 5: 146,482,129 probably benign Het
Krt9 A T 11: 100,191,437 probably null Het
Myh6 T C 14: 54,957,413 T662A probably benign Het
Ntn1 T C 11: 68,226,604 D473G probably benign Het
Olfr576 T C 7: 102,965,583 F161S probably damaging Het
Piezo1 A T 8: 122,495,509 C961S possibly damaging Het
Pik3c2a T C 7: 116,417,518 T335A possibly damaging Het
Plaa A T 4: 94,574,037 Y140* probably null Het
Plxnb2 T C 15: 89,157,214 I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 N555K probably damaging Het
Ptprn2 T A 12: 116,841,388 H174Q probably benign Het
Reln G A 5: 21,920,438 T2749M probably damaging Het
Scarf1 A G 11: 75,521,957 N384S probably damaging Het
Scrt1 T A 15: 76,518,950 H280L unknown Het
Serpina1f C A 12: 103,693,684 C113F probably damaging Het
Setdb2 A T 14: 59,402,293 probably benign Het
Strc A G 2: 121,375,298 L830P probably damaging Het
Tifab T C 13: 56,176,385 S82G probably benign Het
Tmem217 T A 17: 29,526,348 H136L probably damaging Het
Trio T C 15: 27,773,001 E715G probably damaging Het
Ttn A T 2: 76,944,016 M2182K probably damaging Het
Ube2d1 T C 10: 71,262,252 D12G probably damaging Het
Utrn T C 10: 12,745,342 D195G probably benign Het
Other mutations in Arl5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Arl5a APN 2 52416071 missense probably benign 0.06
R0365:Arl5a UTSW 2 52416129 missense probably benign 0.15
R0594:Arl5a UTSW 2 52405014 missense probably damaging 1.00
R1650:Arl5a UTSW 2 52412105 missense probably damaging 1.00
R1682:Arl5a UTSW 2 52416202 missense probably benign 0.01
R2047:Arl5a UTSW 2 52412060 critical splice donor site probably null
R3023:Arl5a UTSW 2 52416197 missense probably benign 0.06
R5858:Arl5a UTSW 2 52412106 missense probably benign 0.00
R7513:Arl5a UTSW 2 52412145 missense possibly damaging 0.72
R7690:Arl5a UTSW 2 52412065 missense possibly damaging 0.57
R7709:Arl5a UTSW 2 52405056 missense probably benign 0.14
R8490:Arl5a UTSW 2 52424602 missense probably benign 0.43
Posted On 2014-01-21