Incidental Mutation 'IGL00586:Arl5b'
ID 9050
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl5b
Ensembl Gene ENSMUSG00000017418
Gene Name ADP-ribosylation factor-like 5B
Synonyms Arl8, 4930587A11Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.073) question?
Stock # IGL00586
Quality Score
Status
Chromosome 2
Chromosomal Location 15060066-15087267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 15074746 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 76 (S76P)
Ref Sequence ENSEMBL: ENSMUSP00000069725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017562] [ENSMUST00000069870] [ENSMUST00000128682] [ENSMUST00000193836]
AlphaFold Q9D4P0
Predicted Effect probably benign
Transcript: ENSMUST00000017562
AA Change: S67P

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
AA Change: S67P

DomainStartEndE-ValueType
ARF 4 171 4.8e-58 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000069870
AA Change: S76P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000069725
Gene: ENSMUSG00000017418
AA Change: S76P

DomainStartEndE-ValueType
ARF 2 180 3.95e-68 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000128682
Predicted Effect probably benign
Transcript: ENSMUST00000129509
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192653
Predicted Effect probably benign
Transcript: ENSMUST00000193836
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ARL5B (ARL8) belongs to a family of proteins that are structurally similar to ADP-ribosylation factors (ARFs; see MIM 103180). ARLs and ARFs are part of the RAS superfamily of regulatory GTPases.[supplied by OMIM, Nov 2010]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Asap3 A C 4: 135,933,879 (GRCm39) D17A probably damaging Het
Ccdc24 C T 4: 117,729,243 (GRCm39) R78H probably damaging Het
Crp T C 1: 172,526,568 (GRCm39) F218L probably benign Het
Dab2 T C 15: 6,459,306 (GRCm39) L385P probably benign Het
Dip2c C A 13: 9,660,791 (GRCm39) T855N probably damaging Het
Dnai7 A T 6: 145,137,302 (GRCm39) F269I possibly damaging Het
Dync2i1 A T 12: 116,205,400 (GRCm39) D396E probably benign Het
Ep400 A G 5: 110,887,460 (GRCm39) V541A probably damaging Het
Gbgt1 A T 2: 28,392,207 (GRCm39) probably null Het
Gm6871 A T 7: 41,195,845 (GRCm39) D297E possibly damaging Het
Gpr107 T A 2: 31,062,006 (GRCm39) F145I probably benign Het
Itgb6 T G 2: 60,450,696 (GRCm39) D581A probably benign Het
Lce1a1 C T 3: 92,554,470 (GRCm39) M1I probably null Het
Lmbrd2 G A 15: 9,157,382 (GRCm39) V207M probably damaging Het
Muc5b T A 7: 141,395,129 (GRCm39) V45E unknown Het
Mybpc2 A G 7: 44,154,806 (GRCm39) V977A probably damaging Het
Oas1c T C 5: 120,946,744 (GRCm39) T29A probably benign Het
Pdzd2 G T 15: 12,365,853 (GRCm39) probably null Het
Plk2 T C 13: 110,532,912 (GRCm39) Y158H possibly damaging Het
Prss1l T C 6: 41,373,049 (GRCm39) I107T probably damaging Het
Ptprq A G 10: 107,443,983 (GRCm39) probably benign Het
Rnf17 C T 14: 56,658,539 (GRCm39) T76I probably damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Sidt2 A G 9: 45,854,350 (GRCm39) V624A possibly damaging Het
Sin3b T C 8: 73,483,628 (GRCm39) V1005A probably benign Het
Ubr4 T C 4: 139,182,495 (GRCm39) V358A possibly damaging Het
Zfp120 T C 2: 149,961,748 (GRCm39) I67V possibly damaging Het
Zfp942 A T 17: 22,147,605 (GRCm39) H341Q probably damaging Het
Other mutations in Arl5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02374:Arl5b APN 2 15,073,003 (GRCm39) missense probably damaging 1.00
IGL03213:Arl5b APN 2 15,074,676 (GRCm39) missense probably damaging 1.00
IGL03396:Arl5b APN 2 15,079,915 (GRCm39) missense probably damaging 0.96
R0559:Arl5b UTSW 2 15,077,998 (GRCm39) missense probably damaging 1.00
R0959:Arl5b UTSW 2 15,077,942 (GRCm39) missense probably damaging 1.00
R1160:Arl5b UTSW 2 15,074,648 (GRCm39) missense probably benign 0.36
R1766:Arl5b UTSW 2 15,074,648 (GRCm39) missense probably benign 0.36
R2100:Arl5b UTSW 2 15,078,006 (GRCm39) missense probably benign 0.03
R2403:Arl5b UTSW 2 15,079,848 (GRCm39) missense probably damaging 1.00
R4272:Arl5b UTSW 2 15,077,990 (GRCm39) missense probably damaging 1.00
R6782:Arl5b UTSW 2 15,077,993 (GRCm39) missense probably damaging 0.98
R7423:Arl5b UTSW 2 15,072,983 (GRCm39) missense probably damaging 1.00
R7898:Arl5b UTSW 2 15,079,869 (GRCm39) missense probably damaging 0.99
R8528:Arl5b UTSW 2 15,078,138 (GRCm39) splice site probably null
R9036:Arl5b UTSW 2 15,073,012 (GRCm39) critical splice donor site probably null
Z1088:Arl5b UTSW 2 15,079,832 (GRCm39) missense probably benign 0.04
Posted On 2012-12-06