Incidental Mutation 'R8342:Arl6'
ID 644982
Institutional Source Beutler Lab
Gene Symbol Arl6
Ensembl Gene ENSMUSG00000022722
Gene Name ADP-ribosylation factor-like 6
Synonyms BBS3, 1110018H24Rik, 2210411E14Rik
MMRRC Submission 067731-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.299) question?
Stock # R8342 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 59433312-59459754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 59442802 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Aspartic acid at position 140 (G140D)
Ref Sequence ENSEMBL: ENSMUSP00000123287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023405] [ENSMUST00000099646] [ENSMUST00000118438] [ENSMUST00000149797]
AlphaFold O88848
Predicted Effect probably benign
Transcript: ENSMUST00000023405
SMART Domains Protein: ENSMUSP00000023405
Gene: ENSMUSG00000022722

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

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

DomainStartEndE-ValueType
ARF 1 185 7.35e-45 SMART
Predicted Effect unknown
Transcript: ENSMUST00000149797
AA Change: G140D
SMART Domains Protein: ENSMUSP00000123287
Gene: ENSMUSG00000022722
AA Change: G140D

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aak1 A G 6: 86,963,321 (GRCm39) D917G unknown Het
Adad1 T C 3: 37,134,050 (GRCm39) S322P probably damaging Het
Agbl4 C T 4: 110,976,224 (GRCm39) L194F probably damaging Het
Ahr C T 12: 35,558,271 (GRCm39) G250R probably damaging Het
AI987944 A T 7: 41,024,310 (GRCm39) I226N probably benign Het
Ankar A G 1: 72,691,619 (GRCm39) V1114A probably damaging Het
Ankrd49 C A 9: 14,692,823 (GRCm39) A114S probably damaging Het
Arrdc3 A G 13: 81,031,790 (GRCm39) S8G probably benign Het
Ate1 A T 7: 130,105,495 (GRCm39) V298E probably benign Het
Atp6v1b2 A G 8: 69,554,035 (GRCm39) I71V probably benign Het
Bin1 A G 18: 32,546,166 (GRCm39) M112V probably benign Het
Camk2b C T 11: 5,940,383 (GRCm39) A152T probably benign Het
Cars2 A C 8: 11,579,706 (GRCm39) F251V probably damaging Het
Cdkl1 A T 12: 69,800,952 (GRCm39) F229I probably damaging Het
Ceacam5 A T 7: 17,486,171 (GRCm39) Y556F possibly damaging Het
Chst15 T C 7: 131,849,615 (GRCm39) N442S probably benign Het
Ckap5 T A 2: 91,436,707 (GRCm39) D1602E possibly damaging Het
Col9a3 A T 2: 180,245,183 (GRCm39) I131F unknown Het
Cyp4f15 A T 17: 32,909,733 (GRCm39) D110V possibly damaging Het
Dlec1 A G 9: 118,968,457 (GRCm39) I1258V probably benign Het
Dpyd A G 3: 119,108,452 (GRCm39) T832A possibly damaging Het
Eno1 A G 4: 150,329,693 (GRCm39) Y189C probably damaging Het
Gnat3 A G 5: 18,208,838 (GRCm39) T181A Het
Kif1b T C 4: 149,306,805 (GRCm39) M852V probably damaging Het
Klk1b26 A T 7: 43,665,508 (GRCm39) I139F probably damaging Het
Loxhd1 G A 18: 77,493,681 (GRCm39) V1547M possibly damaging Het
Lrp4 A G 2: 91,318,790 (GRCm39) T876A probably damaging Het
Malrd1 G T 2: 15,638,035 (GRCm39) W451L unknown Het
Marchf6 A T 15: 31,494,262 (GRCm39) N261K possibly damaging Het
Mcpt2 T C 14: 56,280,250 (GRCm39) C50R probably damaging Het
Muc16 A G 9: 18,569,981 (GRCm39) V846A unknown Het
Muc5b A T 7: 141,414,602 (GRCm39) D2516V unknown Het
Myh15 T C 16: 48,913,120 (GRCm39) L359P probably benign Het
Nemp1 G A 10: 127,528,898 (GRCm39) V201I probably benign Het
Nr2e1 A T 10: 42,444,425 (GRCm39) L228Q probably damaging Het
Nrg1 C A 8: 32,312,334 (GRCm39) V388L probably benign Het
Nrg3 T A 14: 38,734,053 (GRCm39) T278S probably damaging Het
Numb T C 12: 83,854,990 (GRCm39) E112G probably benign Het
Or1l4b T C 2: 37,036,778 (GRCm39) S185P probably damaging Het
Or8g2b A C 9: 39,751,612 (GRCm39) N294T probably damaging Het
Pdlim2 C A 14: 70,403,563 (GRCm39) C283F probably damaging Het
Potegl T A 2: 23,147,017 (GRCm39) probably null Het
Ppm1a G A 12: 72,830,909 (GRCm39) G145R probably damaging Het
Pramel14 T A 4: 143,720,809 (GRCm39) D44V probably benign Het
Pramel18 A T 4: 101,767,581 (GRCm39) M277L probably benign Het
Prune2 C A 19: 17,103,027 (GRCm39) Q2729K probably benign Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Scn9a G T 2: 66,366,626 (GRCm39) T719K probably benign Het
Slc12a7 T C 13: 73,933,281 (GRCm39) V113A probably benign Het
Slc23a1 C T 18: 35,755,588 (GRCm39) G436E probably damaging Het
Slc37a2 A T 9: 37,149,510 (GRCm39) probably null Het
Steap1 G A 5: 5,790,816 (GRCm39) S44L probably benign Het
Sucnr1 C T 3: 59,994,155 (GRCm39) R228C probably damaging Het
Sult3a1 G A 10: 33,742,517 (GRCm39) G48D probably damaging Het
Syn3 A T 10: 86,302,891 (GRCm39) V88D probably damaging Het
Syne1 T C 10: 5,058,622 (GRCm39) D7297G probably benign Het
Tmco5 T C 2: 116,710,734 (GRCm39) I18T probably damaging Het
Trpc1 A G 9: 95,608,601 (GRCm39) L230P probably damaging Het
Ttn T C 2: 76,719,785 (GRCm39) N7108S unknown Het
Ubr5 A G 15: 38,025,081 (GRCm39) V559A Het
Ugt1a7c T C 1: 88,022,973 (GRCm39) V44A possibly damaging Het
Vmn2r60 A T 7: 41,790,494 (GRCm39) S494C possibly 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
R2997:Arl6 UTSW 16 59,444,239 (GRCm39) critical splice donor site probably null
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
R9664:Arl6 UTSW 16 59,434,199 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACACAGCAGCATCTTTACATCTTG -3'
(R):5'- GAAGGACATGAGCTCCGTTG -3'

Sequencing Primer
(F):5'- GAAACCAACATATTTCCAGC -3'
(R):5'- ACATGAGCTCCGTTGCTTTG -3'
Posted On 2020-09-02