Incidental Mutation 'IGL01659:Arl13b'
ID103112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Arl13b
Ensembl Gene ENSMUSG00000022911
Gene NameADP-ribosylation factor-like 13B
Synonymshnn, A930014M17Rik, Arl2l1, A530097K21Rik, C530009C10Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01659
Quality Score
Status
Chromosome16
Chromosomal Location62793685-62847040 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 62802750 bp
ZygosityHeterozygous
Amino Acid Change Serine to Glycine at position 370 (S370G)
Ref Sequence ENSEMBL: ENSMUSP00000086703 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089289]
Predicted Effect possibly damaging
Transcript: ENSMUST00000089289
AA Change: S370G

PolyPhen 2 Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000086703
Gene: ENSMUSG00000022911
AA Change: S370G

DomainStartEndE-ValueType
Pfam:Arf 8 190 8.2e-43 PFAM
Pfam:SRPRB 19 157 7.1e-8 PFAM
Pfam:Roc 23 134 5.4e-9 PFAM
Pfam:Ras 23 183 3.1e-10 PFAM
low complexity region 207 233 N/A INTRINSIC
low complexity region 265 281 N/A INTRINSIC
low complexity region 322 334 N/A INTRINSIC
low complexity region 344 349 N/A INTRINSIC
low complexity region 366 388 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141665
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
PHENOTYPE: Mice homozygous for an ENU-induced mutation die at E13-E14 exhibiting left-right randomization and absence of the floor plate in the caudal spinal cord. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam32 A T 8: 24,870,774 probably benign Het
Ankrd11 A G 8: 122,895,371 S581P probably damaging Het
Cdr2 G T 7: 120,958,549 A251E probably damaging Het
Clec4a4 A T 6: 123,023,935 E202D probably damaging Het
Col14a1 T A 15: 55,446,172 probably benign Het
Dhfr A T 13: 92,355,670 probably null Het
Flnc A G 6: 29,448,671 T1303A probably damaging Het
Mug1 A T 6: 121,870,660 probably benign Het
Napepld A G 5: 21,675,716 V227A probably damaging Het
Nf1 A G 11: 79,559,449 E487G probably benign Het
Nlrp2 A G 7: 5,328,035 L454P probably damaging Het
Olfr1049 A T 2: 86,255,185 C169* probably null Het
Rad51 T A 2: 119,118,702 I61K probably benign Het
Rfx8 A T 1: 39,670,573 H431Q probably damaging Het
Sspo A G 6: 48,474,443 N2725S probably damaging Het
Trim16 A G 11: 62,820,695 E64G probably benign Het
Zfp879 T C 11: 50,838,454 Y39C probably damaging Het
Other mutations in Arl13b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02994:Arl13b APN 16 62812003 missense probably damaging 1.00
R0499:Arl13b UTSW 16 62801733 missense probably benign 0.03
R1484:Arl13b UTSW 16 62806636 missense probably benign
R1618:Arl13b UTSW 16 62813277 splice site probably null
R1637:Arl13b UTSW 16 62830784 missense probably damaging 1.00
R1656:Arl13b UTSW 16 62806644 missense possibly damaging 0.53
R4526:Arl13b UTSW 16 62812011 missense probably damaging 1.00
R4927:Arl13b UTSW 16 62801787 missense probably damaging 1.00
R7127:Arl13b UTSW 16 62801739 missense probably damaging 1.00
R7883:Arl13b UTSW 16 62827266 missense probably damaging 1.00
R7966:Arl13b UTSW 16 62827266 missense probably damaging 1.00
R8054:Arl13b UTSW 16 62806597 missense probably benign 0.00
Posted On2014-01-21