|Institutional Source||Beutler Lab|
|Gene Name||ADP-ribosylation factor-like 13B|
|Synonyms||hnn, A930014M17Rik, Arl2l1, A530097K21Rik, C530009C10Rik|
|Is this an essential gene?||Essential (E-score: 1.000)|
|Stock #||R4927 (G1)|
|Chromosomal Location||62793685-62847040 bp(-) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||C to A at 62801787 bp|
|Amino Acid Change||Glycine to Valine at position 381 (G381V)|
|Ref Sequence||ENSEMBL: ENSMUSP00000086703 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000089289]|
|Predicted Effect||probably damaging
AA Change: G381V
PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
AA Change: G381V
|Predicted Effect||noncoding transcript
|Meta Mutation Damage Score||0.128|
|Coding Region Coverage||
|Validation Efficiency||97% (76/78)|
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||
|Other mutations in Arl13b||
(F):5'- GGTAGTGGATCTGAAAGCTACC -3'
(R):5'- GGCGATAGATAGACATTTGTGATGG -3'
(F):5'- TGTGCTATGCACAGATGG -3'
(R):5'- TTGCTAAAGCCCATGTCAGC -3'