Incidental Mutation 'IGL00501:Dstn'
ID 7008
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dstn
Ensembl Gene ENSMUSG00000015932
Gene Name destrin
Synonyms corn1, sid23p, ADF, 2610043P17Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00501
Quality Score
Status
Chromosome 2
Chromosomal Location 143757251-143785244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143784094 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 146 (T146A)
Ref Sequence ENSEMBL: ENSMUSP00000099461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103172]
AlphaFold Q9R0P5
Predicted Effect probably benign
Transcript: ENSMUST00000103172
AA Change: T146A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099461
Gene: ENSMUSG00000015932
AA Change: T146A

DomainStartEndE-ValueType
ADF 19 153 2.67e-52 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene belongs to the actin-binding proteins ADF family. This family of proteins is responsible for enhancing the turnover rate of actin in vivo. This gene encodes the actin depolymerizing protein that severs actin filaments (F-actin) and binds to actin monomers (G-actin). Two transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice carrying mutations at this locus develop irregular thickening of the corneal epithelium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T C 9: 53,493,895 (GRCm39) I409V probably damaging Het
Adck1 A G 12: 88,335,192 (GRCm39) N26S probably benign Het
Adgrf5 G A 17: 43,760,806 (GRCm39) A834T possibly damaging Het
Agpat5 T C 8: 18,926,148 (GRCm39) probably null Het
Ano8 A C 8: 71,931,793 (GRCm39) probably null Het
Baz2a T A 10: 127,950,494 (GRCm39) M476K probably benign Het
Cgas G A 9: 78,342,869 (GRCm39) A311V probably damaging Het
Col16a1 A G 4: 129,988,345 (GRCm39) probably null Het
Cyp3a13 A T 5: 137,910,195 (GRCm39) I113N probably benign Het
Eif2ak1 A T 5: 143,826,288 (GRCm39) M434L probably damaging Het
Gba2 G A 4: 43,568,477 (GRCm39) A663V probably damaging Het
Gja10 T C 4: 32,601,230 (GRCm39) T385A possibly damaging Het
Gm42878 A C 5: 121,671,406 (GRCm39) I209R probably damaging Het
Grk1 T A 8: 13,457,835 (GRCm39) V245E probably damaging Het
H2az1 T C 3: 137,571,357 (GRCm39) V53A probably damaging Het
Hycc1 A G 5: 24,190,843 (GRCm39) probably benign Het
Kctd16 G A 18: 40,390,440 (GRCm39) probably benign Het
Klhdc8b C T 9: 108,326,105 (GRCm39) R263H probably benign Het
Lcn8 T C 2: 25,545,119 (GRCm39) probably benign Het
Ldlr T C 9: 21,646,657 (GRCm39) probably null Het
Lrrc40 T C 3: 157,766,919 (GRCm39) F458S probably damaging Het
Lypla1 T A 1: 4,898,810 (GRCm39) H35Q probably damaging Het
Mink1 C T 11: 70,494,638 (GRCm39) T273I probably damaging Het
Neb A G 2: 52,185,356 (GRCm39) F959L probably benign Het
Nedd4l A T 18: 65,341,163 (GRCm39) D704V probably damaging Het
Peak1 C T 9: 56,134,610 (GRCm39) E1274K probably damaging Het
Prkcz G T 4: 155,378,858 (GRCm39) probably benign Het
Rabgap1 T A 2: 37,359,558 (GRCm39) N40K probably damaging Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Spink5 A G 18: 44,110,806 (GRCm39) T126A probably damaging Het
Tanc2 T C 11: 105,814,046 (GRCm39) V1830A probably benign Het
Tmem104 T C 11: 115,134,763 (GRCm39) I433T probably damaging Het
Trim10 G A 17: 37,187,939 (GRCm39) R385K probably benign Het
Zbtb44 A G 9: 30,965,606 (GRCm39) I339V possibly damaging Het
Other mutations in Dstn
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0655:Dstn UTSW 2 143,780,342 (GRCm39) missense probably damaging 1.00
R0849:Dstn UTSW 2 143,780,455 (GRCm39) missense probably benign 0.42
R1405:Dstn UTSW 2 143,780,356 (GRCm39) missense probably damaging 1.00
R1405:Dstn UTSW 2 143,780,356 (GRCm39) missense probably damaging 1.00
R1460:Dstn UTSW 2 143,780,408 (GRCm39) missense possibly damaging 0.78
R1541:Dstn UTSW 2 143,780,408 (GRCm39) missense possibly damaging 0.78
R3882:Dstn UTSW 2 143,784,107 (GRCm39) missense probably benign 0.20
R6419:Dstn UTSW 2 143,781,907 (GRCm39) missense possibly damaging 0.75
R7402:Dstn UTSW 2 143,780,368 (GRCm39) missense probably benign
Posted On 2012-04-20