Incidental Mutation 'IGL03396:Arl5b'
ID 421267
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 # IGL03396
Quality Score
Status
Chromosome 2
Chromosomal Location 15060066-15087267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 15079915 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 153 (T153K)
Ref Sequence ENSEMBL: ENSMUSP00000017562 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017562] [ENSMUST00000069870] [ENSMUST00000128682] [ENSMUST00000193836]
AlphaFold Q9D4P0
Predicted Effect probably damaging
Transcript: ENSMUST00000017562
AA Change: T153K

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
AA Change: T153K

DomainStartEndE-ValueType
ARF 4 171 4.8e-58 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000069870
AA Change: T162K

PolyPhen 2 Score 0.901 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000069725
Gene: ENSMUSG00000017418
AA Change: T162K

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
Predicted Effect unknown
Transcript: ENSMUST00000193883
AA Change: T35K
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadvl G A 11: 69,902,239 (GRCm39) R457* probably null Het
Arsb A T 13: 94,075,825 (GRCm39) Y436F probably benign Het
Azgp1 C T 5: 137,983,445 (GRCm39) P40L possibly damaging Het
B020004C17Rik A G 14: 57,253,993 (GRCm39) T39A possibly damaging Het
Cacna2d3 G A 14: 29,442,834 (GRCm39) Q67* probably null Het
Cdcp2 C A 4: 106,964,369 (GRCm39) Y406* probably null Het
Cep89 T A 7: 35,128,603 (GRCm39) D585E probably benign Het
Cfap65 A G 1: 74,943,801 (GRCm39) F1570S probably damaging Het
Cnfn A G 7: 25,067,783 (GRCm39) probably benign Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fra10ac1 C T 19: 38,189,994 (GRCm39) probably null Het
Gjd3 T C 11: 102,691,353 (GRCm39) K217E probably benign Het
Il20rb T C 9: 100,341,251 (GRCm39) E285G probably damaging Het
Ints2 T C 11: 86,103,888 (GRCm39) T1086A probably damaging Het
Itih4 A T 14: 30,609,906 (GRCm39) I79F probably damaging Het
Jmjd6 A T 11: 116,732,077 (GRCm39) L208H probably damaging Het
Lilrb4b A G 10: 51,357,253 (GRCm39) I30V possibly damaging Het
Limch1 A G 5: 67,111,016 (GRCm39) N81S probably damaging Het
Mettl21e A T 1: 44,245,759 (GRCm39) N162K possibly damaging Het
Ninl A G 2: 150,808,132 (GRCm39) S299P possibly damaging Het
Obscn A G 11: 58,964,404 (GRCm39) L3046P probably benign Het
Or1j14 C A 2: 36,417,692 (GRCm39) S89R probably benign Het
Or5b98 T A 19: 12,931,184 (GRCm39) V77E probably damaging Het
Or6c68 A G 10: 129,157,916 (GRCm39) I141M probably benign Het
Pnpla8 G A 12: 44,330,309 (GRCm39) R287H probably benign Het
Pot1a A C 6: 25,745,913 (GRCm39) I596R possibly damaging Het
Prkaa1 A G 15: 5,206,131 (GRCm39) D329G probably damaging Het
Ptprr T G 10: 116,024,235 (GRCm39) V182G probably damaging Het
Rrp1b T A 17: 32,276,237 (GRCm39) probably benign Het
Sec24a A G 11: 51,599,794 (GRCm39) V837A probably benign Het
Slc17a6 A G 7: 51,318,840 (GRCm39) Y494C probably damaging Het
Slc38a10 A T 11: 120,019,301 (GRCm39) I360N probably damaging Het
Snrpb2 T C 2: 142,913,377 (GRCm39) F194L possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Trpv1 A G 11: 73,143,882 (GRCm39) N238S probably benign Het
Usp20 T C 2: 30,901,729 (GRCm39) V498A probably benign Het
Vmn2r23 T C 6: 123,706,585 (GRCm39) S472P probably damaging Het
Vmn2r98 A T 17: 19,290,107 (GRCm39) T548S possibly damaging Het
Zfp429 A T 13: 67,544,159 (GRCm39) probably benign Het
Other mutations in Arl5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Arl5b APN 2 15,074,746 (GRCm39) missense probably benign 0.03
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
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 2016-08-02