|Institutional Source||Beutler Lab|
|Gene Name||ADP-ribosylation factor-like 4D|
|Synonyms||Arf4l, Arfl4, Arl5, 1110036H21Rik|
|Is this an essential gene?||Non essential (E-score: 0.000)|
|Stock #||R2419 (G1)|
|Chromosomal Location||101665541-101667832 bp(+) (GRCm38)|
|Type of Mutation||missense|
|DNA Base Change (assembly)||A to T at 101666888 bp|
|Amino Acid Change||Glutamine to Leucine at position 80 (Q80L)|
|Ref Sequence||ENSEMBL: ENSMUSP00000035918 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000039388]|
|Predicted Effect||probably damaging
AA Change: Q80L
PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
AA Change: Q80L
|Meta Mutation Damage Score||0.8405|
|Coding Region Coverage||
|Validation Efficiency||98% (57/58)|
|MGI Phenotype||FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ADP-ribosylation factor 4D is a member of the ADP-ribosylation factor family of GTP-binding proteins. ARL4D is closely similar to ARL4A and ARL4C and each has a nuclear localization signal and an unusually high guanine nucleotide exchange rate. This protein may play a role in membrane-associated intracellular trafficking. Mutations in this gene have been associated with Bardet-Biedl syndrome (BBS). [provided by RefSeq, Jul 2008]|
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Arl4d||
(F):5'- CTGCATGTCGTCGTCATTGG -3'
(R):5'- TCATACAAATGTTCCAGGCCTG -3'
(F):5'- CGTCATTGGGTTGGATTCCGC -3'
(R):5'- ACCTCGGCTGCACTCAGTG -3'