Incidental Mutation 'IGL03213:Arl5b'
ID413367
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl5b
Ensembl Gene ENSMUSG00000017418
Gene NameADP-ribosylation factor-like 5B
Synonyms4930587A11Rik, Arl8
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL03213
Quality Score
Status
Chromosome2
Chromosomal Location15049395-15082456 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 15069865 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 52 (N52K)
Ref Sequence ENSEMBL: ENSMUSP00000069725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017562] [ENSMUST00000069870] [ENSMUST00000128682] [ENSMUST00000193836]
Predicted Effect probably damaging
Transcript: ENSMUST00000017562
AA Change: N43K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000017562
Gene: ENSMUSG00000017418
AA Change: N43K

DomainStartEndE-ValueType
ARF 4 171 4.8e-58 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000069870
AA Change: N52K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000069725
Gene: ENSMUSG00000017418
AA Change: N52K

DomainStartEndE-ValueType
ARF 2 180 3.95e-68 SMART
Predicted Effect unknown
Transcript: ENSMUST00000128682
AA Change: C40S
Predicted Effect unknown
Transcript: ENSMUST00000129509
AA Change: C30S
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A T 2: 22,941,959 D447E probably damaging Het
Aldh8a1 T C 10: 21,384,717 V175A probably damaging Het
Arap2 T A 5: 62,749,095 T194S probably benign Het
Arih2 T C 9: 108,607,347 T422A probably damaging Het
Atg13 G A 2: 91,685,167 H227Y probably damaging Het
Ccdc178 T C 18: 22,120,691 T164A possibly damaging Het
Cep192 T C 18: 67,865,637 V2074A probably damaging Het
Ces2c T C 8: 104,848,040 I43T probably benign Het
Chrm3 G A 13: 9,878,184 T272I probably benign Het
Cln8 A G 8: 14,894,845 Y53C probably damaging Het
Cwc27 T A 13: 104,796,403 probably benign Het
Cyp3a13 A T 5: 137,894,267 probably benign Het
Dchs1 G T 7: 105,755,072 N2754K probably damaging Het
Dclk1 A T 3: 55,480,384 K84* probably null Het
Ednra T C 8: 77,720,219 T77A probably benign Het
Epn2 T C 11: 61,519,684 N553D probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gm10784 T A 13: 49,945,274 noncoding transcript Het
Gm11492 G T 11: 87,567,358 probably null Het
Gm9047 G A 6: 29,471,793 M89I probably damaging Het
Gtf2e2 T C 8: 33,752,497 F76L probably damaging Het
Hnrnpll A T 17: 80,034,098 V504E probably damaging Het
Ifitm2 A G 7: 140,955,764 V51A possibly damaging Het
Il16 C T 7: 83,646,500 E456K probably damaging Het
Lmod2 A T 6: 24,603,616 I197F possibly damaging Het
Lrrc14 T C 15: 76,713,783 S238P possibly damaging Het
Map3k1 A G 13: 111,748,892 probably benign Het
Phf11d C A 14: 59,349,348 R210S probably benign Het
Pigu T C 2: 155,335,371 N103S probably damaging Het
Rgsl1 A G 1: 153,825,841 V289A probably benign Het
Rp1l1 T A 14: 64,028,415 S483R probably damaging Het
Ryr2 A T 13: 11,724,387 probably benign Het
Sema3c T G 5: 17,694,639 probably benign Het
Sfmbt2 A G 2: 10,404,574 Y110C probably damaging Het
Slc12a3 T C 8: 94,335,305 V328A possibly damaging Het
Smarca2 G A 19: 26,623,975 G31D probably damaging Het
Svs1 A G 6: 48,988,345 D429G possibly damaging Het
Tenm2 T G 11: 36,023,330 E2460A probably benign Het
Trim58 T A 11: 58,651,167 W318R probably benign Het
Ube3a C T 7: 59,286,122 Q585* probably null Het
Vmn2r17 T C 5: 109,434,390 probably null Het
Zfp647 A G 15: 76,911,977 V161A possibly damaging Het
Other mutations in Arl5b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00586:Arl5b APN 2 15069935 missense probably benign 0.03
IGL02374:Arl5b APN 2 15068192 missense probably damaging 1.00
IGL03396:Arl5b APN 2 15075104 missense probably damaging 0.96
R0559:Arl5b UTSW 2 15073187 missense probably damaging 1.00
R0959:Arl5b UTSW 2 15073131 missense probably damaging 1.00
R1160:Arl5b UTSW 2 15069837 missense probably benign 0.36
R1766:Arl5b UTSW 2 15069837 missense probably benign 0.36
R2100:Arl5b UTSW 2 15073195 missense probably benign 0.03
R2403:Arl5b UTSW 2 15075037 missense probably damaging 1.00
R4272:Arl5b UTSW 2 15073179 missense probably damaging 1.00
R6782:Arl5b UTSW 2 15073182 missense probably damaging 0.98
R7423:Arl5b UTSW 2 15068172 missense probably damaging 1.00
R7898:Arl5b UTSW 2 15075058 missense probably damaging 0.99
R7981:Arl5b UTSW 2 15075058 missense probably damaging 0.99
Z1088:Arl5b UTSW 2 15075021 missense probably benign 0.04
Posted On2016-08-02