Incidental Mutation 'R5833:Arl11'
ID 449422
Institutional Source Beutler Lab
Gene Symbol Arl11
Ensembl Gene ENSMUSG00000043157
Gene Name ADP-ribosylation factor-like 11
Synonyms ARLTS1, C730007L20Rik
MMRRC Submission 043221-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R5833 (G1)
Quality Score 206
Status Not validated
Chromosome 14
Chromosomal Location 61547202-61549385 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 61548511 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 107 (L107Q)
Ref Sequence ENSEMBL: ENSMUSP00000153531 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055159] [ENSMUST00000224727]
AlphaFold Q6P3A9
Predicted Effect probably damaging
Transcript: ENSMUST00000055159
AA Change: L107Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000055447
Gene: ENSMUSG00000043157
AA Change: L107Q

DomainStartEndE-ValueType
ARF 1 176 4.96e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188538
Predicted Effect probably damaging
Transcript: ENSMUST00000224727
AA Change: L107Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.2%
  • 10x: 95.7%
  • 20x: 84.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tumor suppressor related to the ADP-ribosylation factor (ARF) family of proteins. The encoded protein may play a role in apoptosis in a caspase-dependent manner. Polymorphisms in this gene have been associated with some familial cancers. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930505A04Rik C T 11: 30,376,349 (GRCm39) V173M probably damaging Het
Abcb4 T C 5: 9,008,314 (GRCm39) Y1161H probably damaging Het
Adcy2 T A 13: 68,886,722 (GRCm39) M276L probably benign Het
Adi1 A G 12: 28,731,041 (GRCm39) D166G probably benign Het
Arhgap44 T G 11: 64,929,503 (GRCm39) E267A probably damaging Het
C1qtnf3 A G 15: 10,975,716 (GRCm39) D247G probably benign Het
C4b T C 17: 34,949,647 (GRCm39) D1481G probably damaging Het
Cacna1a T C 8: 85,245,326 (GRCm39) F242L probably damaging Het
Ccnl1 T C 3: 65,855,922 (GRCm39) K298E probably benign Het
Dcaf5 A G 12: 80,395,203 (GRCm39) V322A probably damaging Het
Ddr2 T C 1: 169,832,265 (GRCm39) N175S probably benign Het
Enox1 T A 14: 77,744,379 (GRCm39) M21K probably benign Het
Fhad1 T C 4: 141,729,838 (GRCm39) D55G probably damaging Het
Gm5157 A G 7: 20,919,318 (GRCm39) M75T possibly damaging Het
Gm6309 A G 5: 146,105,128 (GRCm39) S262P probably damaging Het
Gpnmb T C 6: 49,020,952 (GRCm39) L82P probably damaging Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Iqgap2 C T 13: 95,811,880 (GRCm39) R707H probably damaging Het
Itpripl2 A C 7: 118,089,194 (GRCm39) V455G probably benign Het
Kif16b A G 2: 142,549,287 (GRCm39) V1087A probably benign Het
Med12l A G 3: 59,172,647 (GRCm39) D1801G possibly damaging Het
Mep1a G A 17: 43,789,055 (GRCm39) H574Y probably benign Het
Mtmr4 T A 11: 87,495,875 (GRCm39) Y570* probably null Het
Osbpl1a G T 18: 12,921,419 (GRCm39) N128K probably damaging Het
Pcdhb5 T A 18: 37,454,155 (GRCm39) H178Q probably damaging Het
Pdlim1 A T 19: 40,218,989 (GRCm39) F214Y probably damaging Het
Qki A T 17: 10,435,316 (GRCm39) L236H probably damaging Het
Rexo2 G T 9: 48,380,171 (GRCm39) D220E probably benign Het
Rras A G 7: 44,670,715 (GRCm39) E195G possibly damaging Het
Serpinb11 T C 1: 107,305,392 (GRCm39) probably null Het
Sp1 T A 15: 102,339,352 (GRCm39) M430K possibly damaging Het
Tardbp A C 4: 148,702,117 (GRCm39) V86G probably damaging Het
Trim43c A G 9: 88,725,090 (GRCm39) Q203R possibly damaging Het
Vmn1r232 A G 17: 21,133,913 (GRCm39) L229P probably damaging Het
Other mutations in Arl11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00955:Arl11 APN 14 61,548,691 (GRCm39) missense probably benign 0.22
IGL02158:Arl11 APN 14 61,548,487 (GRCm39) missense probably damaging 0.99
IGL02756:Arl11 APN 14 61,548,535 (GRCm39) missense probably damaging 1.00
R1755:Arl11 UTSW 14 61,548,393 (GRCm39) missense probably benign
R4688:Arl11 UTSW 14 61,548,546 (GRCm39) missense probably benign 0.16
R6438:Arl11 UTSW 14 61,548,393 (GRCm39) missense probably benign
R7129:Arl11 UTSW 14 61,548,346 (GRCm39) missense possibly damaging 0.67
R8213:Arl11 UTSW 14 61,548,714 (GRCm39) missense probably benign 0.00
R8812:Arl11 UTSW 14 61,548,422 (GRCm39) nonsense probably null
RF004:Arl11 UTSW 14 61,548,304 (GRCm39) missense probably damaging 1.00
Z1177:Arl11 UTSW 14 61,548,317 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- CCACTGTTGGTTTTAATGTAGAGCC -3'
(R):5'- GACTTCAGCAAATGCAGCAGG -3'

Sequencing Primer
(F):5'- CTCTTGAGGCTCCTGGACATG -3'
(R):5'- CAGCAAATGCAGCAGGCTCTG -3'
Posted On 2016-12-20