Incidental Mutation 'R1405:Dstn'
ID 160512
Institutional Source Beutler Lab
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 # R1405 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 143757251-143785244 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 143780356 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 19 (K19E)
Ref Sequence ENSEMBL: ENSMUSP00000099461 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103172]
AlphaFold Q9R0P5
Predicted Effect probably damaging
Transcript: ENSMUST00000103172
AA Change: K19E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099461
Gene: ENSMUSG00000015932
AA Change: K19E

DomainStartEndE-ValueType
ADF 19 153 2.67e-52 SMART
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 96.7%
  • 10x: 83.5%
  • 20x: 53.1%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arap1 G A 7: 101,047,643 (GRCm39) probably null Het
Asb8 G A 15: 98,039,248 (GRCm39) H51Y possibly damaging Het
Capn10 T G 1: 92,872,744 (GRCm39) V490G probably benign Het
Ccdc146 G A 5: 21,604,730 (GRCm39) S36L probably benign Het
Celsr1 C T 15: 85,789,635 (GRCm39) probably null Het
Clvs2 C A 10: 33,389,256 (GRCm39) *328L probably null Het
Cul9 C G 17: 46,833,101 (GRCm39) A1326P probably damaging Het
Ehmt2 T A 17: 35,125,553 (GRCm39) H134Q probably benign Het
Faah G A 4: 115,858,345 (GRCm39) P411S probably damaging Het
Fn1 A G 1: 71,681,237 (GRCm39) F364L probably damaging Het
Gmnc A T 16: 26,779,196 (GRCm39) N270K possibly damaging Het
Grip2 A T 6: 91,765,133 (GRCm39) probably null Het
Hmg20a A T 9: 56,384,587 (GRCm39) Q119L possibly damaging Het
Ipo7 T C 7: 109,629,048 (GRCm39) I106T probably benign Het
Ipo7 C T 7: 109,638,456 (GRCm39) P241L probably damaging Het
Katnb1 T C 8: 95,824,801 (GRCm39) Y574H probably damaging Het
Larp6 A C 9: 60,644,849 (GRCm39) M330L probably benign Het
Lrrc8e T C 8: 4,281,754 (GRCm39) Y30H probably damaging Het
Nop56 T C 2: 130,119,868 (GRCm39) V420A probably benign Het
Nrg1 T C 8: 32,407,855 (GRCm39) D126G probably benign Het
Prdm1 T A 10: 44,315,961 (GRCm39) N725I probably damaging Het
Prl3a1 A G 13: 27,459,051 (GRCm39) probably null Het
Psmd2 T C 16: 20,471,034 (GRCm39) L59P possibly damaging Het
Ptgdr2 T C 19: 10,918,395 (GRCm39) V304A probably benign Het
Rasa3 A G 8: 13,638,027 (GRCm39) V339A possibly damaging Het
Sec24c G A 14: 20,742,593 (GRCm39) probably null Het
Serpinb9e A G 13: 33,444,009 (GRCm39) D343G probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sfi1 CCTCTC CCTCTCTC 11: 3,127,419 (GRCm39) probably benign Het
Stab1 A C 14: 30,870,958 (GRCm39) V1297G probably benign Het
Stk4 C T 2: 163,942,448 (GRCm39) T360M probably benign Het
Tmprss2 G A 16: 97,398,005 (GRCm39) T57I probably benign Het
Tnrc6a A G 7: 122,770,301 (GRCm39) D697G probably damaging Het
Vwa5b2 T A 16: 20,423,066 (GRCm39) D1021E probably benign Het
Wdr46 C A 17: 34,168,057 (GRCm39) P543Q probably damaging Het
Zfp1005 T A 2: 150,109,620 (GRCm39) Y103* probably null Het
Zfp287 T A 11: 62,619,137 (GRCm39) D119V probably damaging Het
Zxdc A G 6: 90,361,225 (GRCm39) S737G possibly damaging Het
Other mutations in Dstn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Dstn APN 2 143,784,094 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- ACCATGTGTGCTAGTCAGGAGTCAG -3'
(R):5'- GTGCTCACCACAGGAAGAACATCAG -3'

Sequencing Primer
(F):5'- CTAGTCAGGAGTCAGTAATGCTCAC -3'
(R):5'- GCGACAATCTTTTTCAGGAAGC -3'
Posted On 2014-03-14