Incidental Mutation 'R6004:Arl6'
ID478536
Institutional Source Beutler Lab
Gene Symbol Arl6
Ensembl Gene ENSMUSG00000022722
Gene NameADP-ribosylation factor-like 6
Synonyms1110018H24Rik, BBS3, 2210411E14Rik
MMRRC Submission 044182-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.767) question?
Stock #R6004 (G1)
Quality Score225.009
Status Validated
Chromosome16
Chromosomal Location59612949-59639391 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 59623894 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 80 (W80R)
Ref Sequence ENSEMBL: ENSMUSP00000123287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023405] [ENSMUST00000099646] [ENSMUST00000118438] [ENSMUST00000149797]
Predicted Effect probably damaging
Transcript: ENSMUST00000023405
AA Change: W80R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023405
Gene: ENSMUSG00000022722
AA Change: W80R

DomainStartEndE-ValueType
ARF 1 185 1.62e-46 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099646
AA Change: W80R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097238
Gene: ENSMUSG00000022722
AA Change: W80R

DomainStartEndE-ValueType
ARF 1 185 7.35e-45 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118438
AA Change: W80R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000113127
Gene: ENSMUSG00000022722
AA Change: W80R

DomainStartEndE-ValueType
ARF 1 185 7.35e-45 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000149797
AA Change: W80R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123287
Gene: ENSMUSG00000022722
AA Change: W80R

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
Meta Mutation Damage Score 0.9662 question?
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 96.8%
  • 20x: 89.1%
Validation Efficiency 98% (55/56)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp6 C T 3: 97,175,681 A336V probably benign Het
Adam5 T A 8: 24,781,669 Y574F probably benign Het
Arntl A T 7: 113,280,727 D22V probably damaging Het
Cars2 A G 8: 11,547,743 I111T probably damaging Het
Chrd T C 16: 20,735,237 L317S possibly damaging Het
Cyp4a12b A G 4: 115,433,467 D262G probably benign Het
Dcaf6 A G 1: 165,388,685 S450P probably benign Het
Dnah3 T C 7: 120,086,297 D164G probably benign Het
Gpx6 A C 13: 21,319,069 T218P probably benign Het
Htr1f T C 16: 64,925,876 N351S probably damaging Het
Idua A G 5: 108,680,644 E241G probably benign Het
Ighv14-2 T A 12: 113,994,635 Q62L probably damaging Het
Ighv1-65 C T 12: 115,532,436 noncoding transcript Het
Inpp4a T C 1: 37,372,370 S372P probably damaging Het
Itgax A T 7: 128,131,452 H114L probably damaging Het
Lama2 A T 10: 27,235,785 F746L probably benign Het
Lrrc37a C T 11: 103,502,536 V688M possibly damaging Het
Ltbp2 A G 12: 84,876,149 V28A probably benign Het
Mill2 A T 7: 18,856,538 D166V probably benign Het
Mroh2a G A 1: 88,248,655 C982Y probably damaging Het
Msh3 T A 13: 92,342,414 probably null Het
Myh15 A T 16: 49,159,699 M1395L probably benign Het
Npepps T C 11: 97,223,124 E642G probably benign Het
Nrg4 T C 9: 55,259,383 T68A possibly damaging Het
Olfr1016 A T 2: 85,799,382 V296E probably damaging Het
Olfr1130 T A 2: 87,607,909 F174I probably damaging Het
Olfr1313 G T 2: 112,072,026 L186I probably damaging Het
Olfr32 T C 2: 90,138,999 N47D probably benign Het
Olfr792 T A 10: 129,540,890 Y118N probably benign Het
Olfr890 A G 9: 38,143,960 K270R probably damaging Het
Otogl T A 10: 107,879,529 I429F probably damaging Het
Pank4 G T 4: 154,977,221 G532C probably damaging Het
Plce1 A G 19: 38,721,871 T1150A probably damaging Het
Ppp2r2b T C 18: 43,059,159 probably null Het
Prkrip1 A G 5: 136,197,782 M68T probably damaging Het
Psme4 T A 11: 30,856,896 probably benign Het
Raet1d T A 10: 22,371,394 I123N probably damaging Het
Rp1 T G 1: 4,197,585 T825P unknown Het
Rttn T C 18: 89,021,692 I839T probably damaging Het
Sgo2b G A 8: 63,926,673 Q1042* probably null Het
Skint11 A G 4: 114,231,728 T240A probably benign Het
Speg A T 1: 75,415,603 K1382* probably null Het
Srsf7 A T 17: 80,205,853 D68E probably damaging Het
Stag3 A T 5: 138,289,206 D131V probably damaging Het
Strip2 T A 6: 29,926,571 C152S probably damaging Het
Timm44 G T 8: 4,267,747 D191E probably benign Het
Tlnrd1 A G 7: 83,882,779 V148A probably damaging Het
Trp63 T C 16: 25,763,396 probably null Het
Tusc3 G C 8: 39,071,406 G200R probably damaging Het
Vmn2r10 T G 5: 108,999,078 N448T probably benign Het
Vmn2r50 G A 7: 10,050,059 R163C probably benign Het
Vmn2r53 T C 7: 12,582,401 H497R probably benign Het
Vps39 A G 2: 120,345,650 V83A possibly damaging Het
Ylpm1 A T 12: 85,029,084 N861I possibly damaging Het
Zfp712 A G 13: 67,041,705 C253R probably damaging Het
Zfp930 A G 8: 69,227,904 T84A probably benign Het
Other mutations in Arl6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02390:Arl6 APN 16 59621217 unclassified probably null
IGL02976:Arl6 APN 16 59623896 missense probably damaging 1.00
shrunk UTSW 16 59623894 missense probably damaging 1.00
slunk UTSW 16 59623092 missense possibly damaging 0.54
IGL02988:Arl6 UTSW 16 59613846 critical splice acceptor site probably null
R0147:Arl6 UTSW 16 59618790 unclassified probably benign
R0390:Arl6 UTSW 16 59622421 intron probably benign
R2011:Arl6 UTSW 16 59624313 missense probably damaging 0.97
R2138:Arl6 UTSW 16 59622467 intron probably benign
R2997:Arl6 UTSW 16 59623876 critical splice donor site probably null
R4445:Arl6 UTSW 16 59624313 missense probably damaging 0.97
R4677:Arl6 UTSW 16 59618865 splice site probably null
R6251:Arl6 UTSW 16 59618806 missense probably damaging 0.98
R7171:Arl6 UTSW 16 59623092 missense possibly damaging 0.54
Predicted Primers PCR Primer
(F):5'- GGTCCTTAGAAATCGCTATCAAAAC -3'
(R):5'- CTTGAAAACCTCATTAGTGAAGGAAGC -3'

Sequencing Primer
(F):5'- TAGAAATCGCTATCAAAACCAGAAAG -3'
(R):5'- GGAAGCATTTTTATGTTATCCATTGC -3'
Posted On2017-06-26