Incidental Mutation 'IGL02416:Des'
ID 292471
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Des
Ensembl Gene ENSMUSG00000026208
Gene Name desmin
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.642) question?
Stock # IGL02416
Quality Score
Status
Chromosome 1
Chromosomal Location 75336973-75345223 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to A at 75339372 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000027409 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027409]
AlphaFold P31001
Predicted Effect probably null
Transcript: ENSMUST00000027409
SMART Domains Protein: ENSMUSP00000027409
Gene: ENSMUSG00000026208

DomainStartEndE-ValueType
Pfam:Filament_head 9 105 1.3e-25 PFAM
Filament 106 414 7.41e-148 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125948
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144894
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane and are essential for maintaining the strength and integrity of skeletal, cardiac and smooth muscle fibers. Mutations in this gene affect assembly of intermediate filaments. Mice lacking this gene are able to develop and reproduce but exhibit abnormal muscle fibers. Mutations in the human gene are associated with myofibrillar myopathy, dilated cardiomyopathy, neurogenic scapuloperoneal syndrome and autosomal recessive limb-girdle muscular dystrophy, type 2R. [provided by RefSeq, Jan 2014]
PHENOTYPE: Homozygotes for targeted null mutations exhibit histologically detectable defects of cardiac, skeletal, and smooth muscle. Defects in the heart are most severe, and lead to calcification, progressive degeneration, and necrosis of the myocardium. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamdec1 T C 14: 68,810,282 (GRCm39) N227S probably null Het
Adgrf5 T G 17: 43,755,871 (GRCm39) probably null Het
Arid2 G A 15: 96,247,936 (GRCm39) G116D possibly damaging Het
Arsa T A 15: 89,358,991 (GRCm39) H225L probably damaging Het
Atf6 T A 1: 170,574,726 (GRCm39) K571* probably null Het
Bicdl1 A C 5: 115,801,944 (GRCm39) L38R probably damaging Het
Cct4 T C 11: 22,952,868 (GRCm39) S515P probably damaging Het
Celsr3 A C 9: 108,709,318 (GRCm39) D1388A probably damaging Het
Clca3a2 T C 3: 144,790,777 (GRCm39) T432A probably benign Het
Dock11 T A X: 35,283,739 (GRCm39) V1119E probably damaging Het
Dysf A G 6: 84,169,896 (GRCm39) N1763S possibly damaging Het
Emilin1 A G 5: 31,075,132 (GRCm39) S458G possibly damaging Het
Fhdc1 T G 3: 84,352,535 (GRCm39) M897L probably benign Het
Foxj1 T C 11: 116,222,829 (GRCm39) S325G probably benign Het
Gm5407 A G 16: 49,117,250 (GRCm39) noncoding transcript Het
Gm6576 T C 15: 27,026,073 (GRCm39) noncoding transcript Het
Hells G A 19: 38,953,071 (GRCm39) S743N probably benign Het
Ighv2-9-1 A T 12: 113,733,731 (GRCm39) L30Q probably damaging Het
Iqgap1 A T 7: 80,375,786 (GRCm39) L1363H probably damaging Het
Lrp2 T C 2: 69,299,977 (GRCm39) D3025G probably damaging Het
Mef2d C T 3: 88,063,809 (GRCm39) R79C probably damaging Het
Mical1 G T 10: 41,360,806 (GRCm39) probably null Het
Micu2 A T 14: 58,161,422 (GRCm39) V300E probably damaging Het
Mmgt2 T C 11: 62,555,703 (GRCm39) L17P probably damaging Het
Or4p21 A G 2: 88,277,174 (GRCm39) I36T probably benign Het
Or7c19 T A 8: 85,957,662 (GRCm39) C179* probably null Het
Or7e177 A T 9: 20,211,541 (GRCm39) E15V probably benign Het
Pigb A G 9: 72,924,714 (GRCm39) S482P probably benign Het
Pkd1l2 T A 8: 117,767,574 (GRCm39) T1239S possibly damaging Het
Pou1f1 T C 16: 65,328,842 (GRCm39) I187T probably damaging Het
Prox1 C T 1: 189,893,327 (GRCm39) A373T probably benign Het
Rabgap1 T C 2: 37,451,962 (GRCm39) I954T probably benign Het
Scube3 T G 17: 28,383,110 (GRCm39) C429W probably damaging Het
Slco6b1 T A 1: 96,852,058 (GRCm39) noncoding transcript Het
Strc A T 2: 121,199,539 (GRCm39) I1300N probably damaging Het
Tdrd6 T A 17: 43,935,629 (GRCm39) R1806S probably benign Het
Trpm8 T A 1: 88,288,438 (GRCm39) L860Q probably damaging Het
Vmn1r8 A G 6: 57,013,605 (GRCm39) R219G probably damaging Het
Wdr48 A G 9: 119,753,826 (GRCm39) S649G probably damaging Het
Other mutations in Des
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01285:Des APN 1 75,339,227 (GRCm39) missense probably benign 0.02
IGL02953:Des APN 1 75,340,288 (GRCm39) missense possibly damaging 0.95
IGL03156:Des APN 1 75,339,640 (GRCm39) missense probably damaging 1.00
IGL03288:Des APN 1 75,338,985 (GRCm39) missense possibly damaging 0.79
R0032:Des UTSW 1 75,338,810 (GRCm39) missense possibly damaging 0.87
R0849:Des UTSW 1 75,337,272 (GRCm39) missense probably benign
R0885:Des UTSW 1 75,337,374 (GRCm39) missense probably damaging 1.00
R1271:Des UTSW 1 75,337,290 (GRCm39) missense probably benign 0.01
R1452:Des UTSW 1 75,340,121 (GRCm39) missense probably damaging 1.00
R1559:Des UTSW 1 75,337,230 (GRCm39) missense probably benign 0.11
R1929:Des UTSW 1 75,340,137 (GRCm39) missense probably damaging 0.99
R2144:Des UTSW 1 75,343,448 (GRCm39) missense probably benign 0.45
R2145:Des UTSW 1 75,340,108 (GRCm39) splice site probably benign
R2271:Des UTSW 1 75,340,137 (GRCm39) missense probably damaging 0.99
R4182:Des UTSW 1 75,339,228 (GRCm39) missense probably benign 0.00
R4184:Des UTSW 1 75,339,228 (GRCm39) missense probably benign 0.00
R4383:Des UTSW 1 75,337,413 (GRCm39) missense possibly damaging 0.94
R5268:Des UTSW 1 75,339,572 (GRCm39) missense possibly damaging 0.50
R5787:Des UTSW 1 75,340,290 (GRCm39) missense probably damaging 0.98
R5974:Des UTSW 1 75,339,628 (GRCm39) missense probably benign 0.10
R6044:Des UTSW 1 75,340,113 (GRCm39) critical splice acceptor site probably null
R6985:Des UTSW 1 75,343,431 (GRCm39) missense possibly damaging 0.80
R7359:Des UTSW 1 75,337,596 (GRCm39) missense probably damaging 1.00
R7467:Des UTSW 1 75,339,605 (GRCm39) missense possibly damaging 0.48
R7798:Des UTSW 1 75,339,003 (GRCm39) missense probably damaging 0.96
R8878:Des UTSW 1 75,337,137 (GRCm39) missense unknown
R8957:Des UTSW 1 75,340,295 (GRCm39) missense probably damaging 1.00
R9245:Des UTSW 1 75,343,406 (GRCm39) missense probably benign 0.17
R9258:Des UTSW 1 75,340,289 (GRCm39) missense probably benign 0.21
R9507:Des UTSW 1 75,343,434 (GRCm39) missense probably benign 0.02
R9707:Des UTSW 1 75,337,533 (GRCm39) missense possibly damaging 0.51
Posted On 2015-04-16