Incidental Mutation 'R5419:Arl1'
ID 427938
Institutional Source Beutler Lab
Gene Symbol Arl1
Ensembl Gene ENSMUSG00000060904
Gene Name ADP-ribosylation factor-like 1
Synonyms 2310008D22Rik
MMRRC Submission 042987-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # R5419 (G1)
Quality Score 225
Status Not validated
Chromosome 10
Chromosomal Location 88566720-88579956 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88572966 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Serine at position 80 (C80S)
Ref Sequence ENSEMBL: ENSMUSP00000111942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080379] [ENSMUST00000116234] [ENSMUST00000170137]
AlphaFold P61211
Predicted Effect probably damaging
Transcript: ENSMUST00000080379
AA Change: C63S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000079246
Gene: ENSMUSG00000060904
AA Change: C63S

DomainStartEndE-ValueType
ARF 1 138 1.23e-55 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000116234
AA Change: C80S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111942
Gene: ENSMUSG00000060904
AA Change: C80S

DomainStartEndE-ValueType
ARF 1 181 2.44e-91 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000170137
SMART Domains Protein: ENSMUSP00000127889
Gene: ENSMUSG00000060904

DomainStartEndE-ValueType
Pfam:Arf 5 52 4.6e-19 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 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 ARL (ADP-ribosylation factor-like) family of proteins, which are structurally related to ADP-ribosylation factors (ARFs). ARFs, described as activators of cholera toxin (CT) ADP-ribosyltransferase activity, regulate intracellular vesicular membrane trafficking, and stimulate a phospholipase D (PLD) isoform. Although, ARL proteins were initially thought not to activate CT or PLD, later work showed that they are weak stimulators of PLD and CT in a phospholipid dependent manner. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik C T 9: 46,220,624 (GRCm39) probably null Het
Abca13 T A 11: 9,143,533 (GRCm39) probably null Het
Akap13 A T 7: 75,259,991 (GRCm39) T69S probably benign Het
Bltp2 T A 11: 78,162,916 (GRCm39) L926* probably null Het
Brsk1 A G 7: 4,712,003 (GRCm39) T618A possibly damaging Het
Cep295 T C 9: 15,235,533 (GRCm39) H1982R probably damaging Het
Ces5a A T 8: 94,226,059 (GRCm39) S559T unknown Het
Clcf1 A G 19: 4,272,213 (GRCm39) N90S possibly damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Cobll1 A T 2: 64,933,701 (GRCm39) D430E possibly damaging Het
Cyp1a2 T A 9: 57,589,794 (GRCm39) I7F probably benign Het
Cyp2b23 G A 7: 26,380,848 (GRCm39) R126* probably null Het
Daam2 A G 17: 49,787,782 (GRCm39) W444R possibly damaging Het
Dcbld2 T A 16: 58,275,621 (GRCm39) C446S probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Eif2d T C 1: 131,086,035 (GRCm39) *177R probably null Het
Fkbp15 G A 4: 62,246,114 (GRCm39) A438V probably damaging Het
Gjb5 G A 4: 127,249,652 (GRCm39) A164V probably benign Het
Grin1 A T 2: 25,188,285 (GRCm39) probably null Het
Grm3 A G 5: 9,620,233 (GRCm39) F337S probably damaging Het
Hey2 T A 10: 30,710,019 (GRCm39) T245S probably benign Het
Ifi206 T C 1: 173,308,797 (GRCm39) T400A probably benign Het
Itga7 G A 10: 128,779,902 (GRCm39) E480K probably null Het
Itpr1 T C 6: 108,470,755 (GRCm39) Y2227H possibly damaging Het
Krt8 T C 15: 101,912,337 (GRCm39) D113G probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lins1 A G 7: 66,357,843 (GRCm39) probably benign Het
Lmf1 A T 17: 25,881,610 (GRCm39) D553V possibly damaging Het
Lnpep A G 17: 17,786,992 (GRCm39) S536P probably damaging Het
Lrp1b A T 2: 40,620,716 (GRCm39) C3587* probably null Het
Macf1 A T 4: 123,290,917 (GRCm39) D3435E possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Myg1 A T 15: 102,245,397 (GRCm39) N206I probably damaging Het
Myl12a T G 17: 71,301,694 (GRCm39) R144S probably benign Het
Myo5a T A 9: 75,055,179 (GRCm39) I454K probably damaging Het
Nwd2 A G 5: 63,965,051 (GRCm39) D1545G probably benign Het
Ogdhl T G 14: 32,061,181 (GRCm39) D457E probably damaging Het
Or5ac20 T A 16: 59,104,704 (GRCm39) D52V probably damaging Het
Or9s18 A C 13: 65,300,588 (GRCm39) L183F probably damaging Het
Paf1 A G 7: 28,095,095 (GRCm39) I112V possibly damaging Het
Pate7 T A 9: 35,689,407 (GRCm39) probably null Het
Pcdhga4 C T 18: 37,819,798 (GRCm39) P449L probably damaging Het
Pla2g6 A T 15: 79,183,342 (GRCm39) I495N possibly damaging Het
Ptgs1 A G 2: 36,127,234 (GRCm39) Y40C probably damaging Het
Ptprn2 A T 12: 117,148,267 (GRCm39) I676F probably damaging Het
Rev3l T C 10: 39,700,927 (GRCm39) L1808P possibly damaging Het
Sall2 A G 14: 52,550,586 (GRCm39) S868P probably damaging Het
Shoc1 A T 4: 59,049,017 (GRCm39) M1116K probably benign Het
Slc47a2 A G 11: 61,198,412 (GRCm39) F428L probably benign Het
Slco1a7 C T 6: 141,681,826 (GRCm39) probably null Het
Slco3a1 A T 7: 73,934,363 (GRCm39) F603Y possibly damaging Het
Smyd2 A T 1: 189,642,090 (GRCm39) C65* probably null Het
Ssu72 T C 4: 155,800,007 (GRCm39) F57L probably damaging Het
Tanc2 A G 11: 105,813,709 (GRCm39) T1718A probably benign Het
Tnks G C 8: 35,432,720 (GRCm39) P34A unknown Het
Top3a G A 11: 60,653,348 (GRCm39) T42I probably damaging Het
Trank1 T C 9: 111,220,369 (GRCm39) S2369P probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqln1 T C 13: 58,330,997 (GRCm39) Q410R probably damaging Het
Vmn2r11 A G 5: 109,207,224 (GRCm39) I32T possibly damaging Het
Xcr1 A G 9: 123,685,375 (GRCm39) F129S probably benign Het
Other mutations in Arl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01670:Arl1 APN 10 88,577,884 (GRCm39) missense probably damaging 1.00
IGL03181:Arl1 APN 10 88,578,921 (GRCm39) utr 3 prime probably benign
R1851:Arl1 UTSW 10 88,569,408 (GRCm39) utr 5 prime probably benign
R3932:Arl1 UTSW 10 88,569,398 (GRCm39) splice site probably benign
R4597:Arl1 UTSW 10 88,566,608 (GRCm39) unclassified probably benign
R4700:Arl1 UTSW 10 88,566,499 (GRCm39) unclassified probably benign
R5875:Arl1 UTSW 10 88,577,841 (GRCm39) missense probably benign 0.00
R9027:Arl1 UTSW 10 88,569,458 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTTGAAACTGTAGATTTATGTCTGTA -3'
(R):5'- ATGGAAGAAAATACCTTTGAGTGTT -3'

Sequencing Primer
(F):5'- CTGACAAGTAACCCATCTCC -3'
(R):5'- GTCCCTCCATACTTAACTGT -3'
Posted On 2016-09-01