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 2810410P22Rik, Arl5, 2410015N24Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # IGL01695
Quality Score
Status
Chromosome 2
Chromosomal Location 52287961-52314886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 52302117 bp (GRCm39)
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
Ap3b2 T A 7: 81,126,687 (GRCm39) probably benign Het
Arfgef3 T C 10: 18,479,167 (GRCm39) T1483A probably benign Het
Bahcc1 G A 11: 120,167,435 (GRCm39) G1279R probably benign Het
Bbs5 A G 2: 69,479,434 (GRCm39) N43S probably damaging Het
Bltp2 T C 11: 78,156,019 (GRCm39) V177A probably benign Het
Calhm5 A G 10: 33,968,198 (GRCm39) V285A possibly damaging Het
Cdh23 C T 10: 60,167,612 (GRCm39) V1795M probably benign Het
Cep350 T C 1: 155,819,904 (GRCm39) E353G probably damaging Het
Cps1 A T 1: 67,236,194 (GRCm39) I976L probably benign Het
Ctdp1 A T 18: 80,492,841 (GRCm39) S551R probably damaging Het
Cyp2b19 C T 7: 26,458,489 (GRCm39) T68I probably damaging Het
Efcab3 A T 11: 104,626,889 (GRCm39) E864D probably damaging Het
Esr2 A G 12: 76,192,093 (GRCm39) S312P probably damaging Het
Gm6408 A G 5: 146,418,939 (GRCm39) probably benign Het
Krt9 A T 11: 100,082,263 (GRCm39) probably null Het
Myh6 T C 14: 55,194,870 (GRCm39) T662A probably benign Het
Ntn1 T C 11: 68,117,430 (GRCm39) D473G probably benign Het
Or51a7 T C 7: 102,614,790 (GRCm39) F161S probably damaging Het
Piezo1 A T 8: 123,222,248 (GRCm39) C961S possibly damaging Het
Pik3c2a T C 7: 116,016,753 (GRCm39) T335A possibly damaging Het
Plaa A T 4: 94,462,274 (GRCm39) Y140* probably null Het
Plxnb2 T C 15: 89,041,417 (GRCm39) I1749V possibly damaging Het
Ppp1r9a T A 6: 5,064,003 (GRCm39) N555K probably damaging Het
Ptprn2 T A 12: 116,805,008 (GRCm39) H174Q probably benign Het
Reln G A 5: 22,125,436 (GRCm39) T2749M probably damaging Het
Scarf1 A G 11: 75,412,783 (GRCm39) N384S probably damaging Het
Scrt1 T A 15: 76,403,150 (GRCm39) H280L unknown Het
Serpina1f C A 12: 103,659,943 (GRCm39) C113F probably damaging Het
Setdb2 A T 14: 59,639,742 (GRCm39) probably benign Het
Strc A G 2: 121,205,779 (GRCm39) L830P probably damaging Het
Tifab T C 13: 56,324,198 (GRCm39) S82G probably benign Het
Tmem217 T A 17: 29,745,322 (GRCm39) H136L probably damaging Het
Trio T C 15: 27,773,087 (GRCm39) E715G probably damaging Het
Ttn A T 2: 76,774,360 (GRCm39) M2182K probably damaging Het
Ube2d1 T C 10: 71,098,082 (GRCm39) D12G probably damaging Het
Utrn T C 10: 12,621,086 (GRCm39) D195G probably benign Het
Other mutations in Arl5a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00089:Arl5a APN 2 52,306,083 (GRCm39) missense probably benign 0.06
R0365:Arl5a UTSW 2 52,306,141 (GRCm39) missense probably benign 0.15
R0594:Arl5a UTSW 2 52,295,026 (GRCm39) missense probably damaging 1.00
R1650:Arl5a UTSW 2 52,302,117 (GRCm39) missense probably damaging 1.00
R1682:Arl5a UTSW 2 52,306,214 (GRCm39) missense probably benign 0.01
R2047:Arl5a UTSW 2 52,302,072 (GRCm39) critical splice donor site probably null
R3023:Arl5a UTSW 2 52,306,209 (GRCm39) missense probably benign 0.06
R5858:Arl5a UTSW 2 52,302,118 (GRCm39) missense probably benign 0.00
R7513:Arl5a UTSW 2 52,302,157 (GRCm39) missense possibly damaging 0.72
R7690:Arl5a UTSW 2 52,302,077 (GRCm39) missense possibly damaging 0.57
R7709:Arl5a UTSW 2 52,295,068 (GRCm39) missense probably benign 0.14
R8490:Arl5a UTSW 2 52,314,614 (GRCm39) missense probably benign 0.43
Posted On 2014-01-21