Incidental Mutation 'R7760:Arl6'
ID 597825
Institutional Source Beutler Lab
Gene Symbol Arl6
Ensembl Gene ENSMUSG00000022722
Gene Name ADP-ribosylation factor-like 6
Synonyms BBS3, 1110018H24Rik, 2210411E14Rik
MMRRC Submission 045816-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R7760 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 59433312-59459754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 59439169 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 175 (D175G)
Ref Sequence ENSEMBL: ENSMUSP00000113127 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023405] [ENSMUST00000099646] [ENSMUST00000118438] [ENSMUST00000149797]
AlphaFold O88848
Predicted Effect probably damaging
Transcript: ENSMUST00000023405
AA Change: D175G

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000023405
Gene: ENSMUSG00000022722
AA Change: D175G

DomainStartEndE-ValueType
ARF 1 185 1.62e-46 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000099646
AA Change: D175G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097238
Gene: ENSMUSG00000022722
AA Change: D175G

DomainStartEndE-ValueType
ARF 1 185 7.35e-45 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000118438
AA Change: D175G

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113127
Gene: ENSMUSG00000022722
AA Change: D175G

DomainStartEndE-ValueType
ARF 1 185 7.35e-45 SMART
Predicted Effect probably benign
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: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (55/55)
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
Anxa11 C T 14: 25,873,251 (GRCm39) Q162* probably null Het
Arg1 T G 10: 24,803,361 (GRCm39) probably benign Het
Capg A G 6: 72,534,769 (GRCm39) R199G probably damaging Het
Ceacam1 T A 7: 25,171,450 (GRCm39) E338V probably damaging Het
Clec4d A G 6: 123,247,300 (GRCm39) N148D probably benign Het
Ctr9 T G 7: 110,645,808 (GRCm39) I653R probably damaging Het
Dmwd C T 7: 18,814,660 (GRCm39) L437F probably damaging Het
Dnah7b T A 1: 46,240,413 (GRCm39) L1510Q probably damaging Het
Efcab5 T A 11: 77,042,752 (GRCm39) E136D probably benign Het
Elfn2 C T 15: 78,558,041 (GRCm39) A169T probably benign Het
Elp1 A G 4: 56,790,892 (GRCm39) V287A probably benign Het
Esrp2 T A 8: 106,860,102 (GRCm39) E326D probably benign Het
Fbrs T C 7: 127,088,572 (GRCm39) V718A probably damaging Het
Fbxl21 C T 13: 56,684,816 (GRCm39) R307C probably benign Het
Fbxl21 T C 13: 56,674,747 (GRCm39) S33P probably benign Het
Gatad2b C T 3: 90,261,776 (GRCm39) R461W probably damaging Het
Gm19410 T A 8: 36,269,491 (GRCm39) C1109S probably damaging Het
Gm6882 T A 7: 21,161,409 (GRCm39) D153V probably damaging Het
Golga3 A G 5: 110,353,716 (GRCm39) E918G probably benign Het
Greb1 T C 12: 16,773,417 (GRCm39) N219S probably benign Het
Grpel1 G T 5: 36,627,986 (GRCm39) R89L probably damaging Het
Ighv5-12 T A 12: 113,665,795 (GRCm39) Q101L probably benign Het
Ldb3 T A 14: 34,264,460 (GRCm39) N590I probably damaging Het
Man2c1 T C 9: 57,046,647 (GRCm39) V636A probably benign Het
Mblac2 G T 13: 81,859,996 (GRCm39) V117L probably benign Het
Muc6 T A 7: 141,237,322 (GRCm39) probably null Het
Nfatc3 A G 8: 106,834,973 (GRCm39) E773G possibly damaging Het
Ngef T C 1: 87,468,495 (GRCm39) D88G probably benign Het
Nipbl T C 15: 8,388,186 (GRCm39) E478G probably damaging Het
Or2t6 T C 14: 14,175,905 (GRCm38) Y59C probably damaging Het
Pbx4 C A 8: 70,285,445 (GRCm39) D29E probably benign Het
Pcdhgb5 A G 18: 37,864,690 (GRCm39) I162V not run Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pigr A T 1: 130,774,368 (GRCm39) R449S possibly damaging Het
Plcb2 T C 2: 118,541,869 (GRCm39) T914A probably benign Het
Ppp5c A G 7: 16,740,274 (GRCm39) S387P probably damaging Het
Rnf7l T C 10: 63,257,316 (GRCm39) K68R probably damaging Het
Rtkn2 T G 10: 67,841,439 (GRCm39) S196A probably damaging Het
Sec31a A G 5: 100,540,487 (GRCm39) F400L probably damaging Het
Senp7 A T 16: 55,959,442 (GRCm39) M251L probably benign Het
Slc6a5 T C 7: 49,596,365 (GRCm39) F612L probably benign Het
Slc7a9 T C 7: 35,156,500 (GRCm39) I314T possibly damaging Het
Smc5 A C 19: 23,213,254 (GRCm39) S553A probably benign Het
Spaca3 T A 11: 80,755,389 (GRCm39) V133D probably damaging Het
Taco1 T A 11: 105,963,938 (GRCm39) D232E possibly damaging Het
Tarbp1 C T 8: 127,179,546 (GRCm39) R664H not run Het
Tlk2 T C 11: 105,169,993 (GRCm39) I674T probably damaging Het
Tnxb A T 17: 34,931,911 (GRCm39) E2148V probably damaging Het
Tom1l2 T C 11: 60,165,791 (GRCm39) S59G probably benign Het
Traj46 A T 14: 54,409,813 (GRCm39) H7L Het
Traj46 T G 14: 54,409,814 (GRCm39) H7Q Het
Trav6-4 T A 14: 53,692,103 (GRCm39) L70Q possibly damaging Het
Trmt1l C T 1: 151,318,425 (GRCm39) T245I possibly damaging Het
Wac T A 18: 7,921,913 (GRCm39) C601S probably benign Het
Wnt3 T A 11: 103,702,266 (GRCm39) H145Q probably benign Het
Zfp948 T C 17: 21,808,628 (GRCm39) C607R 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
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
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'- GTTTGTCCCAAACTTCAGATGTG -3'
(R):5'- CTAACTGATAAATGCAGTTGGAGCAG -3'

Sequencing Primer
(F):5'- GGGTCCATAAATTAAAACCATTTTCC -3'
(R):5'- CAGTTGGAGCAGTGGGTAC -3'
Posted On 2019-11-26