Incidental Mutation 'IGL02977:Dym'
ID406445
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dym
Ensembl Gene ENSMUSG00000035765
Gene Namedymeclin
SynonymsC030019K18Rik, 4933427L07Rik, 1810041M12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02977
Quality Score
Status
Chromosome18
Chromosomal Location75018772-75286966 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 75063175 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000047054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039608]
Predicted Effect probably null
Transcript: ENSMUST00000039608
SMART Domains Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765

DomainStartEndE-ValueType
Pfam:Dymeclin 1 646 3.3e-174 PFAM
Pfam:Hid1 309 584 3e-11 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is necessary for normal skeletal development and brain function. Mutations in this gene are associated with two types of recessive osteochondrodysplasia, Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia, which involve both skeletal defects and mental retardation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele display decreased body size with short tubular bones, chondrodysplasia, partial penetrance of obstructive hydronephrosis and impaired vesicular transport. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2810004N23Rik C T 8: 124,861,191 V57M probably benign Het
4933440M02Rik T A 7: 125,331,702 noncoding transcript Het
9530053A07Rik C T 7: 28,164,372 T2523M possibly damaging Het
Bmp5 A G 9: 75,893,799 T404A probably damaging Het
Cep192 T C 18: 67,852,905 V1660A probably damaging Het
Csmd2 C A 4: 128,493,276 Y2121* probably null Het
Daam1 G A 12: 71,944,172 A187T unknown Het
Dnaja4 T C 9: 54,714,510 L343P possibly damaging Het
F5 A T 1: 164,194,021 D1355V probably damaging Het
Gcnt1 A T 19: 17,329,374 I329N probably damaging Het
Gm10110 T C 14: 89,897,332 noncoding transcript Het
Hdgfl2 A G 17: 56,099,319 N569S possibly damaging Het
Hivep1 T C 13: 42,155,936 S551P possibly damaging Het
Hpse2 G A 19: 42,789,122 probably benign Het
Hspe1 T C 1: 55,091,073 Y88H probably benign Het
Ifi44 A T 3: 151,739,379 M312K probably benign Het
Lrp1b T G 2: 40,730,735 D3577A probably damaging Het
Mapk13 G T 17: 28,776,348 G181V probably damaging Het
Olfr1164 T C 2: 88,093,571 I122V probably benign Het
Olfr464 A G 11: 87,914,130 S259P possibly damaging Het
Oprl1 G T 2: 181,718,511 C115F probably damaging Het
Psg22 A G 7: 18,719,599 D112G probably benign Het
Rp1l1 T A 14: 64,028,150 I395N probably benign Het
Simc1 T C 13: 54,526,307 S823P probably benign Het
Slc9b1 T C 3: 135,397,723 L538P probably damaging Het
Smad2 T A 18: 76,289,164 Y216N possibly damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Tonsl T A 15: 76,632,873 Q882L probably benign Het
Trav13-2 C T 14: 53,635,307 T80I probably damaging Het
Uaca C T 9: 60,866,380 P388S probably benign Het
Vmn2r116 A G 17: 23,388,774 R439G possibly damaging Het
Vmn2r18 C A 5: 151,586,684 A75S probably damaging Het
Other mutations in Dym
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Dym APN 18 75119249 missense probably benign 0.43
IGL01593:Dym APN 18 75114781 splice site probably benign
IGL02657:Dym APN 18 75082456 nonsense probably null
IGL02716:Dym APN 18 75286683 missense probably damaging 1.00
asesino UTSW 18 75056641 missense probably damaging 1.00
flavor UTSW 18 75056738 nonsense probably null
geschmack UTSW 18 75063174 critical splice donor site probably null
sabor UTSW 18 75125539 critical splice donor site probably null
R0042:Dym UTSW 18 75125539 critical splice donor site probably null
R0058:Dym UTSW 18 75043172 missense possibly damaging 0.94
R0058:Dym UTSW 18 75043172 missense possibly damaging 0.94
R0320:Dym UTSW 18 75199262 missense probably damaging 0.99
R0943:Dym UTSW 18 75286769 makesense probably null
R1677:Dym UTSW 18 75125512 missense probably damaging 1.00
R2022:Dym UTSW 18 75080250 missense probably benign 0.05
R2221:Dym UTSW 18 75230165 missense probably damaging 1.00
R2292:Dym UTSW 18 75199212 missense possibly damaging 0.95
R4087:Dym UTSW 18 75230101 missense probably damaging 1.00
R4929:Dym UTSW 18 75243286 missense probably damaging 1.00
R5033:Dym UTSW 18 75119161 missense possibly damaging 0.78
R6489:Dym UTSW 18 75080226 missense probably benign 0.27
R6641:Dym UTSW 18 75056641 missense probably damaging 1.00
R6751:Dym UTSW 18 75286647 missense probably damaging 0.98
R6864:Dym UTSW 18 75056738 nonsense probably null
R7284:Dym UTSW 18 75119171 missense possibly damaging 0.60
R7319:Dym UTSW 18 75063174 critical splice donor site probably null
Posted On2016-08-02