Incidental Mutation 'IGL02657:Dym'
ID 302372
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dym
Ensembl Gene ENSMUSG00000035765
Gene Name dymeclin
Synonyms 1810041M12Rik, C030019K18Rik, 4933427L07Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02657
Quality Score
Chromosome 18
Chromosomal Location 75151852-75420035 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 75215527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 238 (Q238*)
Ref Sequence ENSEMBL: ENSMUSP00000047054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039608]
AlphaFold Q8CHY3
Predicted Effect probably null
Transcript: ENSMUST00000039608
AA Change: Q238*
SMART Domains Protein: ENSMUSP00000047054
Gene: ENSMUSG00000035765
AA Change: Q238*

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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afmid G A 11: 117,725,648 (GRCm39) V120M possibly damaging Het
Aldh1l1 T C 6: 90,567,776 (GRCm39) L680P probably damaging Het
Alox12 A T 11: 70,138,104 (GRCm39) D410E probably benign Het
Amt T A 9: 108,178,579 (GRCm39) V365E probably damaging Het
Ano9 A G 7: 140,687,353 (GRCm39) S321P probably damaging Het
Atp2c2 A T 8: 120,479,771 (GRCm39) I767F probably damaging Het
Bag1 A T 4: 40,936,643 (GRCm39) Y338N probably benign Het
Bcr T A 10: 74,990,796 (GRCm39) D767E probably benign Het
Chfr A T 5: 110,302,705 (GRCm39) Q350L probably damaging Het
Cops3 A T 11: 59,721,043 (GRCm39) L124H probably damaging Het
Ddx60 T C 8: 62,437,149 (GRCm39) Y988H probably benign Het
Dnajc2 A T 5: 21,975,479 (GRCm39) probably benign Het
Fbn1 A T 2: 125,193,945 (GRCm39) C1341S possibly damaging Het
Fryl G T 5: 73,212,203 (GRCm39) N2308K probably benign Het
Gbp2b G T 3: 142,309,873 (GRCm39) R221L probably damaging Het
Gpat2 A G 2: 127,269,251 (GRCm39) N8S probably benign Het
Gvin2 T C 7: 105,545,972 (GRCm39) K2360R probably damaging Het
Hycc2 A T 1: 58,574,561 (GRCm39) W327R probably damaging Het
Ift52 A G 2: 162,887,135 (GRCm39) D379G probably damaging Het
Inhbe C A 10: 127,186,645 (GRCm39) L178F probably damaging Het
Ipo5 T C 14: 121,181,212 (GRCm39) Y913H possibly damaging Het
Kif21b T A 1: 136,099,968 (GRCm39) D1507E possibly damaging Het
Lnx2 A G 5: 146,964,984 (GRCm39) V413A probably damaging Het
Lrrc40 C A 3: 157,742,410 (GRCm39) F16L probably damaging Het
Magi2 A G 5: 19,432,581 (GRCm39) K99E probably damaging Het
Me3 A G 7: 89,495,461 (GRCm39) I357M probably benign Het
Med30 A G 15: 52,582,761 (GRCm39) Y66C probably benign Het
Mief2 A T 11: 60,621,783 (GRCm39) S118C probably damaging Het
Mylip A G 13: 45,544,722 (GRCm39) S49G probably benign Het
Ncoa7 T A 10: 30,528,972 (GRCm39) D107V probably damaging Het
Nvl C A 1: 180,934,541 (GRCm39) V655F probably damaging Het
Olfml2b C T 1: 170,508,645 (GRCm39) T501I probably benign Het
Ormdl2 T C 10: 128,656,186 (GRCm39) I40V probably benign Het
Pde6b G T 5: 108,568,142 (GRCm39) probably benign Het
Ralgapa1 A C 12: 55,720,292 (GRCm39) L1785W probably damaging Het
Rnf112 A T 11: 61,341,078 (GRCm39) probably null Het
Sema3c A T 5: 17,781,866 (GRCm39) M1L possibly damaging Het
Sema3c T A 5: 17,867,972 (GRCm39) Y128N probably damaging Het
Sema4b G A 7: 79,866,789 (GRCm39) G255D probably damaging Het
Setd1a C T 7: 127,394,997 (GRCm39) probably benign Het
Sirpb1a A C 3: 15,482,111 (GRCm39) S72R possibly damaging Het
Slu7 T A 11: 43,332,849 (GRCm39) probably null Het
Spata19 T C 9: 27,309,276 (GRCm39) V59A probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Suclg1 T A 6: 73,237,504 (GRCm39) V83E probably damaging Het
Syncrip G T 9: 88,338,457 (GRCm39) R536S probably benign Het
Tap2 T C 17: 34,424,432 (GRCm39) V55A probably damaging Het
Tekt4 T C 17: 25,692,732 (GRCm39) I186T possibly damaging Het
Trpc6 C A 9: 8,643,602 (GRCm39) D462E possibly damaging Het
Ubqln3 T G 7: 103,791,170 (GRCm39) T307P probably damaging Het
Vmn1r64 A T 7: 5,886,727 (GRCm39) I272K probably benign Het
Xpr1 T C 1: 155,166,026 (GRCm39) T574A probably benign Het
Zfc3h1 A G 10: 115,247,859 (GRCm39) T1021A possibly damaging Het
Zfp512 A T 5: 31,628,501 (GRCm39) H159L probably damaging Het
Other mutations in Dym
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Dym APN 18 75,252,320 (GRCm39) missense probably benign 0.43
IGL01593:Dym APN 18 75,247,852 (GRCm39) splice site probably benign
IGL02716:Dym APN 18 75,419,754 (GRCm39) missense probably damaging 1.00
IGL02977:Dym APN 18 75,196,246 (GRCm39) critical splice donor site probably null
asesino UTSW 18 75,189,712 (GRCm39) missense probably damaging 1.00
flavor UTSW 18 75,189,809 (GRCm39) nonsense probably null
geschmack UTSW 18 75,196,245 (GRCm39) critical splice donor site probably null
kugel UTSW 18 75,189,809 (GRCm39) nonsense probably null
sabor UTSW 18 75,258,610 (GRCm39) critical splice donor site probably null
R0042:Dym UTSW 18 75,258,610 (GRCm39) critical splice donor site probably null
R0058:Dym UTSW 18 75,176,243 (GRCm39) missense possibly damaging 0.94
R0058:Dym UTSW 18 75,176,243 (GRCm39) missense possibly damaging 0.94
R0320:Dym UTSW 18 75,332,333 (GRCm39) missense probably damaging 0.99
R0943:Dym UTSW 18 75,419,840 (GRCm39) makesense probably null
R1677:Dym UTSW 18 75,258,583 (GRCm39) missense probably damaging 1.00
R2022:Dym UTSW 18 75,213,321 (GRCm39) missense probably benign 0.05
R2221:Dym UTSW 18 75,363,236 (GRCm39) missense probably damaging 1.00
R2292:Dym UTSW 18 75,332,283 (GRCm39) missense possibly damaging 0.95
R4087:Dym UTSW 18 75,363,172 (GRCm39) missense probably damaging 1.00
R4929:Dym UTSW 18 75,376,357 (GRCm39) missense probably damaging 1.00
R5033:Dym UTSW 18 75,252,232 (GRCm39) missense possibly damaging 0.78
R6489:Dym UTSW 18 75,213,297 (GRCm39) missense probably benign 0.27
R6641:Dym UTSW 18 75,189,712 (GRCm39) missense probably damaging 1.00
R6751:Dym UTSW 18 75,419,718 (GRCm39) missense probably damaging 0.98
R6864:Dym UTSW 18 75,189,809 (GRCm39) nonsense probably null
R7284:Dym UTSW 18 75,252,242 (GRCm39) missense possibly damaging 0.60
R7319:Dym UTSW 18 75,196,245 (GRCm39) critical splice donor site probably null
R8095:Dym UTSW 18 75,247,872 (GRCm39) missense possibly damaging 0.75
R8683:Dym UTSW 18 75,363,089 (GRCm39) missense probably damaging 1.00
R8686:Dym UTSW 18 75,419,754 (GRCm39) missense probably damaging 1.00
R8713:Dym UTSW 18 75,189,809 (GRCm39) nonsense probably null
R9022:Dym UTSW 18 75,258,507 (GRCm39) missense probably benign 0.03
Posted On 2015-04-16