Incidental Mutation 'R2997:Arl6'
ID 257209
Institutional Source Beutler Lab
Gene Symbol Arl6
Ensembl Gene ENSMUSG00000022722
Gene Name ADP-ribosylation factor-like 6
Synonyms BBS3, 1110018H24Rik, 2210411E14Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R2997 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 59433312-59459754 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 59444239 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000123287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023405] [ENSMUST00000099646] [ENSMUST00000118438] [ENSMUST00000149797]
AlphaFold O88848
Predicted Effect probably null
Transcript: ENSMUST00000023405
SMART Domains Protein: ENSMUSP00000023405
Gene: ENSMUSG00000022722

DomainStartEndE-ValueType
ARF 1 185 1.62e-46 SMART
Predicted Effect probably null
Transcript: ENSMUST00000099646
SMART Domains Protein: ENSMUSP00000097238
Gene: ENSMUSG00000022722

DomainStartEndE-ValueType
ARF 1 185 7.35e-45 SMART
Predicted Effect probably null
Transcript: ENSMUST00000118438
SMART Domains Protein: ENSMUSP00000113127
Gene: ENSMUSG00000022722

DomainStartEndE-ValueType
ARF 1 185 7.35e-45 SMART
Predicted Effect probably null
Transcript: ENSMUST00000149797
SMART Domains Protein: ENSMUSP00000123287
Gene: ENSMUSG00000022722

DomainStartEndE-ValueType
Pfam:Arf 4 127 6.4e-38 PFAM
Pfam:SRPRB 15 124 5.5e-10 PFAM
Pfam:Ras 19 121 2.1e-9 PFAM
Pfam:Roc 19 124 1e-12 PFAM
Pfam:Gtr1_RagA 19 125 1.2e-7 PFAM
Pfam:MMR_HSR1 19 129 2.1e-7 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the ARF-like (ADP ribosylation factor-like) sub-family of the ARF family of GTP-binding proteins which are involved in regulation of intracellular traffic. Mutations in this gene are associated with Bardet-Biedl syndrome (BBS). A vision-specific transcript, encoding long isoform BBS3L, has been described (PMID: 20333246). [provided by RefSeq, Apr 2016]
PHENOTYPE: Mice homozygous for a targeted allele exhibit a disorganized photoreceptor inner segment and craniofacial abnormalitries. Male mice are sterile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl2 A T 3: 148,523,285 (GRCm39) V82E probably damaging Het
Ahcyl G A 16: 45,974,288 (GRCm39) T363I possibly damaging Het
Arid5b C T 10: 67,934,292 (GRCm39) G294S probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Elp4 A G 2: 105,644,661 (GRCm39) F228L possibly damaging Het
Fndc3b A C 3: 27,523,021 (GRCm39) D519E probably benign Het
Gbp9 T A 5: 105,230,635 (GRCm39) I430F probably benign Het
Lgr4 A T 2: 109,833,862 (GRCm39) E369D probably benign Het
Lrguk T A 6: 34,050,697 (GRCm39) V385D probably damaging Het
Mier1 T A 4: 102,988,233 (GRCm39) D52E probably damaging Het
Mthfd1 G T 12: 76,361,810 (GRCm39) V139F probably benign Het
Myg1 G T 15: 102,245,945 (GRCm39) R315L probably null Het
Pcare ACTGCTGCTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 17: 72,051,706 (GRCm39) probably benign Het
Tchh CACGCGAGGAACGCGAGGAAC CACGCGAGGAAC 3: 93,355,057 (GRCm39) probably benign Het
Ttn A G 2: 76,716,350 (GRCm39) probably benign Het
Tyw5 T C 1: 57,427,800 (GRCm39) D268G probably damaging Het
Other mutations in Arl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02390:Arl6 APN 16 59,441,580 (GRCm39) splice site probably null
IGL02976:Arl6 APN 16 59,444,259 (GRCm39) missense probably damaging 1.00
shrunk UTSW 16 59,444,257 (GRCm39) missense probably damaging 1.00
Slunk UTSW 16 59,443,455 (GRCm39) missense possibly damaging 0.54
IGL02988:Arl6 UTSW 16 59,434,209 (GRCm39) critical splice acceptor site probably null
R0147:Arl6 UTSW 16 59,439,153 (GRCm39) unclassified probably benign
R0390:Arl6 UTSW 16 59,442,784 (GRCm39) intron probably benign
R2011:Arl6 UTSW 16 59,444,676 (GRCm39) missense probably damaging 0.97
R2138:Arl6 UTSW 16 59,442,830 (GRCm39) intron probably benign
R4445:Arl6 UTSW 16 59,444,676 (GRCm39) missense probably damaging 0.97
R4677:Arl6 UTSW 16 59,439,228 (GRCm39) splice site probably null
R6004:Arl6 UTSW 16 59,444,257 (GRCm39) missense probably damaging 1.00
R6251:Arl6 UTSW 16 59,439,169 (GRCm39) missense probably damaging 0.99
R7171:Arl6 UTSW 16 59,443,455 (GRCm39) missense possibly damaging 0.54
R7760:Arl6 UTSW 16 59,439,169 (GRCm39) missense probably damaging 0.99
R7768:Arl6 UTSW 16 59,452,699 (GRCm39) missense probably damaging 1.00
R7950:Arl6 UTSW 16 59,439,094 (GRCm39) splice site probably null
R8342:Arl6 UTSW 16 59,442,802 (GRCm39) missense unknown
R9664:Arl6 UTSW 16 59,434,199 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GCAAAGTATCAGCTAAGGTGACTG -3'
(R):5'- TAGGCCAACTCTTGAAAACCTC -3'

Sequencing Primer
(F):5'- GGCTTCTAAATTATGTAGCCCAGGC -3'
(R):5'- GCCAACTCTTGAAAACCTCATTAGTG -3'
Posted On 2015-01-11