Incidental Mutation 'N/A - 293:Exoc1l'
ID 49
Institutional Source Beutler Lab
Gene Symbol Exoc1l
Ensembl Gene ENSMUSG00000091204
Gene Name exocyst complex component 1 like
Synonyms Gm7271
Accession Numbers
Essential gene? Probably non essential (E-score: 0.173) question?
Stock # N/A - 293 of strain aoba
Quality Score
Status Validated
Chromosome 5
Chromosomal Location 76631924-76664475 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 76664339 bp (GRCm39)
Zygosity Homozygous
Amino Acid Change Serine to Proline at position 143 (S143P)
Ref Sequence ENSEMBL: ENSMUSP00000147216 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000172369] [ENSMUST00000191515]
AlphaFold B9EK06
Predicted Effect probably benign
Transcript: ENSMUST00000172369
AA Change: S143P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000130657
Gene: ENSMUSG00000091204
AA Change: S143P

DomainStartEndE-ValueType
Sec3-PIP2_bind 30 121 5.63e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172369
AA Change: S143P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000191515
AA Change: S143P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Coding Region Coverage
  • 1x: 88.4%
  • 3x: 74.0%
Validation Efficiency 85% (165/193)
Allele List at MGI
Other mutations in this stock
Total: 8 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Gm7634 T A 1: 16,124,084 (GRCm39) noncoding transcript Homo
Kras T A 6: 145,177,940 (GRCm39) M111L probably benign Homo
Lrig1 T C 6: 94,586,068 (GRCm39) T707A probably benign Homo
Mycbp2 A G 14: 103,461,898 (GRCm39) probably benign Homo
Or2a7 C T 6: 43,151,493 (GRCm39) T191I probably benign Homo
Smarcad1 T A 6: 65,051,898 (GRCm39) F344I probably benign Homo
Sprr4 G A 3: 92,407,650 (GRCm39) Q51* probably null Homo
Zeb1 A T 18: 5,767,076 (GRCm39) H529L possibly damaging Homo
Other mutations in Exoc1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0034:Exoc1l UTSW 5 76,664,377 (GRCm39) missense probably damaging 0.98
R0411:Exoc1l UTSW 5 76,648,334 (GRCm39) missense possibly damaging 0.95
R4378:Exoc1l UTSW 5 76,648,380 (GRCm39) missense probably damaging 0.96
R4612:Exoc1l UTSW 5 76,664,345 (GRCm39) missense probably damaging 1.00
R5211:Exoc1l UTSW 5 76,664,250 (GRCm39) missense possibly damaging 0.87
Nature of Mutation
DNA sequencing using the SOLiD technique identified a T to C transition at position 764 of the Gm7271 transcript. The mutated nucleotide causes a serine to proline substitution at amino acid 224. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
Gm7271 is an uncharacterized gene with evidence at the transcript level for the encoded 172 amino acid protein (Uniprot B9EK06).  The predicted protein sequence does not contain a recognizable protein domain and the protein record has been removed from the NCBI database.
 
The S224P change is predicted to be benign by the PolyPhen program.
Posted On 2009-11-10