Incidental Mutation 'R4445:Arl6'
ID 329868
Institutional Source Beutler Lab
Gene Symbol Arl6
Ensembl Gene ENSMUSG00000022722
Gene Name ADP-ribosylation factor-like 6
Synonyms BBS3, 1110018H24Rik, 2210411E14Rik
MMRRC Submission 041151-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.335) question?
Stock # R4445 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 59433312-59459754 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 59444676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 51 (I51K)
Ref Sequence ENSEMBL: ENSMUSP00000123287 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023405] [ENSMUST00000099646] [ENSMUST00000118438] [ENSMUST00000149797]
AlphaFold O88848
Predicted Effect possibly damaging
Transcript: ENSMUST00000023405
AA Change: I51K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000023405
Gene: ENSMUSG00000022722
AA Change: I51K

DomainStartEndE-ValueType
ARF 1 185 1.62e-46 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000099646
AA Change: I51K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000097238
Gene: ENSMUSG00000022722
AA Change: I51K

DomainStartEndE-ValueType
ARF 1 185 7.35e-45 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000118438
AA Change: I51K

PolyPhen 2 Score 0.580 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113127
Gene: ENSMUSG00000022722
AA Change: I51K

DomainStartEndE-ValueType
ARF 1 185 7.35e-45 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000149797
AA Change: I51K

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000123287
Gene: ENSMUSG00000022722
AA Change: I51K

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: 98.5%
  • 10x: 96.9%
  • 20x: 94.5%
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg6 A G 10: 14,285,507 (GRCm39) S1160P probably damaging Het
Adgrl1 T C 8: 84,661,489 (GRCm39) L962P probably damaging Het
Calcoco1 A G 15: 102,624,175 (GRCm39) probably null Het
Cd59a A G 2: 103,941,163 (GRCm39) Q47R probably benign Het
Cdkl2 G A 5: 92,168,168 (GRCm39) T342I probably benign Het
Cfap45 G A 1: 172,362,794 (GRCm39) V262M probably benign Het
Chd8 A T 14: 52,441,984 (GRCm39) probably null Het
Cntnap2 C T 6: 46,736,785 (GRCm39) T737I probably benign Het
Cplane1 A G 15: 8,281,672 (GRCm39) D2837G unknown Het
Crot T C 5: 9,023,643 (GRCm39) H415R probably damaging Het
Cyp17a1 A G 19: 46,656,462 (GRCm39) F411L probably damaging Het
Cyp4a12a G A 4: 115,183,980 (GRCm39) probably null Het
Cysltr2 G A 14: 73,267,333 (GRCm39) H126Y possibly damaging Het
Ddx56 A T 11: 6,215,770 (GRCm39) probably null Het
Dync2i1 G A 12: 116,171,335 (GRCm39) A967V probably damaging Het
Elmod1 T A 9: 53,841,413 (GRCm39) D93V probably damaging Het
Epb41l2 T C 10: 25,319,701 (GRCm39) L178P possibly damaging Het
Flacc1 A T 1: 58,706,080 (GRCm39) I263K possibly damaging Het
Galnt10 T A 11: 57,674,517 (GRCm39) V502D probably damaging Het
Gm11735 T C 11: 116,629,888 (GRCm39) noncoding transcript Het
H4c12 T C 13: 21,934,513 (GRCm39) T55A possibly damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Igsf9b A G 9: 27,245,548 (GRCm39) T1172A probably benign Het
Ip6k3 A G 17: 27,364,076 (GRCm39) I324T probably benign Het
Klkb1 C T 8: 45,730,092 (GRCm39) S263N probably benign Het
Lrit3 A T 3: 129,582,180 (GRCm39) C602* probably null Het
Lyst T C 13: 13,884,149 (GRCm39) S2986P probably benign Het
Mapkapk5 T C 5: 121,663,291 (GRCm39) T445A probably benign Het
Mms19 A T 19: 41,952,372 (GRCm39) M119K possibly damaging Het
Myo7a T C 7: 97,715,611 (GRCm39) D63G probably damaging Het
Nscme3l A T 19: 5,553,022 (GRCm39) V253D probably damaging Het
Nsun2 G A 13: 69,777,840 (GRCm39) probably null Het
Or13a24 C A 7: 140,154,302 (GRCm39) P79T probably damaging Het
Or1ak2 T G 2: 36,827,563 (GRCm39) L144R probably damaging Het
Or2ag1b T A 7: 106,288,353 (GRCm39) Y195F possibly damaging Het
Or51t4 T C 7: 102,598,005 (GRCm39) L101P possibly damaging Het
Pabpc2 T C 18: 39,907,253 (GRCm39) F173L probably damaging Het
Rngtt A G 4: 33,499,035 (GRCm39) I531V probably benign Het
Sacs A G 14: 61,442,135 (GRCm39) M1394V probably benign Het
Setd1b G T 5: 123,286,167 (GRCm39) E404D unknown Het
Slc25a54 G A 3: 109,005,984 (GRCm39) R164H probably benign Het
Slc2a13 A G 15: 91,234,223 (GRCm39) V371A possibly damaging Het
Spag9 C G 11: 93,988,079 (GRCm39) L798V possibly damaging Het
Tbce A T 13: 14,172,980 (GRCm39) S484T possibly damaging Het
Tcf12 C T 9: 71,776,345 (GRCm39) R399Q probably damaging Het
Ttn A G 2: 76,615,177 (GRCm39) V16847A probably benign Het
Ttn A G 2: 76,687,210 (GRCm39) probably benign Het
Vmn1r11 T G 6: 57,114,515 (GRCm39) L23V probably benign Het
Vmn2r59 C T 7: 41,691,874 (GRCm39) C541Y probably damaging Het
Vmn2r82 A C 10: 79,214,874 (GRCm39) T286P possibly damaging Het
Vps13c T G 9: 67,889,777 (GRCm39) probably null Het
Ypel1 A T 16: 16,921,464 (GRCm39) Y73* probably null Het
Zdhhc6 T C 19: 55,291,169 (GRCm39) I349V probably benign 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
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'- CAAGAGTTGGCCTAAACTTTAAGGG -3'
(R):5'- CTCTTGGGTCAAATGTCACCC -3'

Sequencing Primer
(F):5'- TGGCCTAAACTTTAAGGGCTGAG -3'
(R):5'- GAACACTCTGTCCACGTTGTCATATG -3'
Posted On 2015-07-21