Incidental Mutation 'R3932:Arl1'
ID 308506
Institutional Source Beutler Lab
Gene Symbol Arl1
Ensembl Gene ENSMUSG00000060904
Gene Name ADP-ribosylation factor-like 1
Synonyms 2310008D22Rik
MMRRC Submission 040919-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.743) question?
Stock # R3932 (G1)
Quality Score 225
Status Validated
Chromosome 10
Chromosomal Location 88566720-88579956 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 88569398 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127889 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080379] [ENSMUST00000116234] [ENSMUST00000170137]
AlphaFold P61211
Predicted Effect probably benign
Transcript: ENSMUST00000080379
SMART Domains Protein: ENSMUSP00000079246
Gene: ENSMUSG00000060904

DomainStartEndE-ValueType
ARF 1 138 1.23e-55 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000092231
Predicted Effect probably benign
Transcript: ENSMUST00000116234
SMART Domains Protein: ENSMUSP00000111942
Gene: ENSMUSG00000060904

DomainStartEndE-ValueType
ARF 1 181 2.44e-91 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168843
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: 99.4%
  • 3x: 98.7%
  • 10x: 97.1%
  • 20x: 94.1%
Validation Efficiency 100% (52/52)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap3b2 C T 7: 81,123,598 (GRCm39) probably benign Het
Arsi G A 18: 61,049,723 (GRCm39) G202E probably benign Het
Atp10a T C 7: 58,476,852 (GRCm39) M1189T possibly damaging Het
Bcl2l14 A G 6: 134,400,771 (GRCm39) D64G probably damaging Het
Cdc34b G A 11: 94,633,441 (GRCm39) V214M probably benign Het
Cfap54 T C 10: 92,665,619 (GRCm39) T2985A probably benign Het
Clcc1 T C 3: 108,580,682 (GRCm39) M332T probably damaging Het
Coch T C 12: 51,650,121 (GRCm39) I370T probably damaging Het
Ctdnep1 A G 11: 69,880,400 (GRCm39) probably benign Het
Edar C T 10: 58,446,164 (GRCm39) C221Y probably damaging Het
Fam135b T A 15: 71,322,280 (GRCm39) Q1295L probably benign Het
Fam184a C T 10: 53,575,397 (GRCm39) A71T probably damaging Het
Fbxw10 A G 11: 62,759,983 (GRCm39) probably benign Het
Frmd4a T C 2: 4,542,071 (GRCm39) W247R probably damaging Het
Gcn1 A G 5: 115,725,893 (GRCm39) H553R probably benign Het
Grin3a C T 4: 49,672,472 (GRCm39) probably null Het
H2-Q6 C T 17: 35,644,542 (GRCm39) probably benign Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Hspg2 T C 4: 137,242,879 (GRCm39) V670A probably damaging Het
Med10 A G 13: 69,958,101 (GRCm39) N18D probably damaging Het
Mgat4b T A 11: 50,124,165 (GRCm39) H368Q possibly damaging Het
Morn5 C A 2: 35,943,035 (GRCm39) T45N probably damaging Het
Mrc2 G A 11: 105,239,257 (GRCm39) probably null Het
Msl3 C T X: 167,454,813 (GRCm39) A87T probably damaging Het
Myrf T C 19: 10,195,515 (GRCm39) T432A probably damaging Het
Nalf2 G A X: 98,865,470 (GRCm39) V266M possibly damaging Het
Nav3 T A 10: 109,529,896 (GRCm39) E2148D probably damaging Het
Nfe2l3 A G 6: 51,433,595 (GRCm39) T236A possibly damaging Het
Odc1 T A 12: 17,598,801 (GRCm39) F227Y probably benign Het
Opa1 A T 16: 29,429,698 (GRCm39) E401D probably damaging Het
Or5b21 T C 19: 12,839,994 (GRCm39) M285T possibly damaging Het
Pdcd1 T C 1: 93,968,989 (GRCm39) I110V probably benign Het
Pde5a G A 3: 122,554,545 (GRCm39) E212K probably damaging Het
Plin4 A G 17: 56,413,704 (GRCm39) I307T probably benign Het
Rag1 T C 2: 101,473,384 (GRCm39) Y586C probably damaging Het
Rgs7bp T C 13: 105,189,506 (GRCm39) M98V probably benign Het
Rgs9 A G 11: 109,166,639 (GRCm39) probably benign Het
Rin3 A G 12: 102,356,342 (GRCm39) D961G probably damaging Het
Rubcn A G 16: 32,649,629 (GRCm39) probably null Het
Slc13a2 T A 11: 78,289,226 (GRCm39) Y495F probably damaging Het
Tfec T A 6: 16,845,458 (GRCm39) D67V probably damaging Het
Tmem94 T C 11: 115,680,080 (GRCm39) M30T probably benign Het
Tsbp1 A G 17: 34,662,417 (GRCm39) T86A possibly damaging Het
Tubgcp6 A G 15: 88,988,617 (GRCm39) probably benign Het
Vmn2r10 C A 5: 109,150,088 (GRCm39) A319S possibly damaging Het
Vmn2r85 T C 10: 130,254,336 (GRCm39) M783V probably damaging Het
Zfp422 T C 6: 116,603,420 (GRCm39) K193R probably benign Het
Zfp94 T G 7: 24,003,112 (GRCm39) D110A 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
R4597:Arl1 UTSW 10 88,566,608 (GRCm39) unclassified probably benign
R4700:Arl1 UTSW 10 88,566,499 (GRCm39) unclassified probably benign
R5419:Arl1 UTSW 10 88,572,966 (GRCm39) missense probably damaging 1.00
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'- TGGGAACTTCACGTGTTACTG -3'
(R):5'- CCCATCATATGACTCGTTTATTCAG -3'

Sequencing Primer
(F):5'- GAACTTCACGTGTTACTGTTTGC -3'
(R):5'- TGACTCGTTTATTCAGAAAGCTG -3'
Posted On 2015-04-17