Incidental Mutation 'IGL01408:Dmgdh'
ID79881
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dmgdh
Ensembl Gene ENSMUSG00000042102
Gene Namedimethylglycine dehydrogenase precursor
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01408
Quality Score
Status
Chromosome13
Chromosomal Location93674433-93752833 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 93709295 bp
ZygosityHeterozygous
Amino Acid Change Proline to Serine at position 486 (P486S)
Ref Sequence ENSEMBL: ENSMUSP00000039663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048001]
Predicted Effect probably damaging
Transcript: ENSMUST00000048001
AA Change: P486S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: P486S

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:DAO 44 407 9.3e-64 PFAM
Pfam:FAO_M 410 464 1e-15 PFAM
Pfam:GCV_T 468 738 3.6e-72 PFAM
Pfam:SoxG 559 697 1.3e-10 PFAM
Pfam:GCV_T_C 745 838 3.9e-26 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126196
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149839
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes an enzyme involved in the catabolism of choline, catalyzing the oxidative demethylation of dimethylglycine to form sarcosine. The enzyme is found as a monomer in the mitochondrial matrix, and uses flavin adenine dinucleotide and folate as cofactors. [provided by RefSeq, Jul 2013]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik A G 11: 52,403,366 R145G probably damaging Het
Akr1c21 T A 13: 4,577,432 M175K probably benign Het
Apol7a C T 15: 77,389,330 A311T probably damaging Het
Atxn10 G T 15: 85,376,695 E214* probably null Het
Bmp2k C T 5: 97,086,964 Q749* probably null Het
Ccdc141 G A 2: 77,045,679 A669V probably benign Het
Cndp2 A C 18: 84,670,911 C249G probably benign Het
Cnr1 A G 4: 33,944,802 I397V possibly damaging Het
Col19a1 T C 1: 24,306,250 probably benign Het
Dbn1 T C 13: 55,482,304 probably benign Het
Dpys A G 15: 39,793,306 V455A possibly damaging Het
Farp2 A G 1: 93,618,980 N907S probably benign Het
Fndc3c1 C T X: 106,432,772 E894K probably benign Het
Gm6685 A T 11: 28,339,473 N114K probably damaging Het
Golga3 A T 5: 110,217,809 probably null Het
Grin2c A G 11: 115,260,882 L84P probably damaging Het
Gucy2c A G 6: 136,698,011 F1001L probably benign Het
Hcn4 A G 9: 58,859,886 H910R unknown Het
Kdm4b T C 17: 56,353,518 probably benign Het
Lrrfip2 A G 9: 111,214,216 T497A probably benign Het
Man2c1 A G 9: 57,141,600 Y924C probably damaging Het
Nkain2 T A 10: 32,402,241 T63S probably damaging Het
Nlrp1a T A 11: 71,122,916 T503S probably benign Het
Olfr658 T A 7: 104,644,929 I146F possibly damaging Het
Olfr665 T C 7: 104,880,830 V41A probably benign Het
Pitrm1 T A 13: 6,573,042 C780S probably damaging Het
Plekha5 C T 6: 140,570,316 probably benign Het
Rapgef4 C T 2: 72,174,841 R193* probably null Het
Rbm20 A G 19: 53,851,613 E1011G possibly damaging Het
Rfx3 A T 19: 27,768,650 D685E probably benign Het
Ror1 T C 4: 100,333,787 S114P probably damaging Het
Slc17a6 A G 7: 51,669,115 K502E probably benign Het
Spink2 A T 5: 77,211,327 probably benign Het
Sptb A T 12: 76,613,147 I993N possibly damaging Het
Stxbp4 A G 11: 90,621,649 probably benign Het
Tes A T 6: 17,099,879 Y291F probably damaging Het
Tmtc4 G T 14: 122,925,954 probably benign Het
Trpa1 T C 1: 14,889,413 E683G probably benign Het
Vmn2r73 T C 7: 85,872,247 D171G probably benign Het
Wbp11 A G 6: 136,814,614 probably benign Het
Wfdc12 A G 2: 164,189,661 *86R probably null Het
Zfp281 T C 1: 136,626,115 V277A probably damaging Het
Other mutations in Dmgdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Dmgdh APN 13 93703778 splice site probably benign
IGL01406:Dmgdh APN 13 93687031 splice site probably benign
IGL02167:Dmgdh APN 13 93720627 splice site probably benign
IGL02538:Dmgdh APN 13 93708753 missense possibly damaging 0.50
IGL02550:Dmgdh APN 13 93717575 missense probably damaging 1.00
IGL02563:Dmgdh APN 13 93674539 splice site probably benign
IGL02668:Dmgdh APN 13 93703910 missense probably damaging 1.00
IGL02889:Dmgdh APN 13 93715677 critical splice donor site probably null
IGL03293:Dmgdh APN 13 93706701 missense probably benign 0.11
R0646:Dmgdh UTSW 13 93752355 missense probably benign 0.04
R1531:Dmgdh UTSW 13 93744411 missense probably damaging 1.00
R1746:Dmgdh UTSW 13 93752425 missense probably benign
R1795:Dmgdh UTSW 13 93706699 missense probably benign
R1943:Dmgdh UTSW 13 93711370 missense probably benign 0.08
R1959:Dmgdh UTSW 13 93720559 missense probably benign 0.01
R3421:Dmgdh UTSW 13 93711361 missense probably benign 0.01
R3727:Dmgdh UTSW 13 93692067 missense probably damaging 1.00
R4523:Dmgdh UTSW 13 93688630 nonsense probably null
R5000:Dmgdh UTSW 13 93688538 missense probably damaging 1.00
R5589:Dmgdh UTSW 13 93677157 missense probably damaging 1.00
R5913:Dmgdh UTSW 13 93752323 missense possibly damaging 0.92
R6056:Dmgdh UTSW 13 93708743 missense possibly damaging 0.67
R6056:Dmgdh UTSW 13 93752326 missense probably damaging 1.00
R6057:Dmgdh UTSW 13 93752452 missense probably benign 0.00
R6180:Dmgdh UTSW 13 93752286 missense possibly damaging 0.61
R6259:Dmgdh UTSW 13 93752308 missense probably benign 0.01
R6608:Dmgdh UTSW 13 93706744 missense possibly damaging 0.81
R6636:Dmgdh UTSW 13 93709198 missense probably benign 0.08
R6637:Dmgdh UTSW 13 93709198 missense probably benign 0.08
R6739:Dmgdh UTSW 13 93720615 missense probably benign 0.07
R7157:Dmgdh UTSW 13 93715535 missense probably damaging 1.00
R7200:Dmgdh UTSW 13 93691885 missense probably damaging 1.00
R7312:Dmgdh UTSW 13 93708846 splice site probably null
R7349:Dmgdh UTSW 13 93752233 missense possibly damaging 0.80
R8087:Dmgdh UTSW 13 93703871 missense possibly damaging 0.95
R8288:Dmgdh UTSW 13 93708824 missense probably damaging 1.00
R8290:Dmgdh UTSW 13 93706736 missense probably benign 0.05
R8371:Dmgdh UTSW 13 93708730 missense probably benign 0.00
R8469:Dmgdh UTSW 13 93706667 missense probably damaging 1.00
R8768:Dmgdh UTSW 13 93688610 missense possibly damaging 0.52
X0066:Dmgdh UTSW 13 93752374 missense possibly damaging 0.90
Z1177:Dmgdh UTSW 13 93677183 missense probably damaging 0.96
Z1177:Dmgdh UTSW 13 93709288 missense probably damaging 1.00
Posted On2013-11-05