Incidental Mutation 'IGL03293:Dmgdh'
ID415972
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 #IGL03293
Quality Score
Status
Chromosome13
Chromosomal Location93674433-93752833 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 93706701 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 348 (M348I)
Ref Sequence ENSEMBL: ENSMUSP00000039663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048001]
Predicted Effect probably benign
Transcript: ENSMUST00000048001
AA Change: M348I

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: M348I

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: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9230019H11Rik A G 10: 3,125,699 noncoding transcript Het
A830018L16Rik T A 1: 11,545,151 probably null Het
Akr1c14 C T 13: 4,079,130 R45* probably null Het
Ccdc62 T A 5: 123,951,225 L309I possibly damaging Het
Ccdc66 T A 14: 27,490,671 N565I probably damaging Het
Cerkl G T 2: 79,342,375 A318E probably damaging Het
Clec4n A T 6: 123,232,146 T57S probably benign Het
Cluh A G 11: 74,665,752 E921G probably benign Het
Cnbd1 C T 4: 18,860,565 E394K possibly damaging Het
Dnajc13 G A 9: 104,174,426 S1744L possibly damaging Het
Dspp A T 5: 104,177,561 S597C unknown Het
Dync1h1 A T 12: 110,628,734 N1360I probably benign Het
Eepd1 A G 9: 25,603,412 H505R possibly damaging Het
Gcnt7 T C 2: 172,454,383 T174A possibly damaging Het
Gnb1 T C 4: 155,540,547 probably benign Het
Gpam A G 19: 55,071,016 S800P probably benign Het
Gsr T C 8: 33,694,996 probably benign Het
Herc2 A G 7: 56,155,130 K2302R probably benign Het
Hipk1 C A 3: 103,777,259 A347S possibly damaging Het
Iqgap2 T C 13: 95,731,434 N222S probably damaging Het
Marco T A 1: 120,494,795 M46L probably benign Het
Morc2b A T 17: 33,138,363 V145D probably damaging Het
Mprip C A 11: 59,696,163 P54Q probably damaging Het
Ndufv2 A T 17: 66,083,449 C175* probably null Het
Olfr1181 T C 2: 88,423,227 D266G probably damaging Het
Olfr272 A G 4: 52,910,835 *320Q probably null Het
Orc3 A C 4: 34,595,210 I195S probably damaging Het
Otos C A 1: 92,644,413 E64* probably null Het
Plxna2 T C 1: 194,804,945 S1603P probably damaging Het
Rlf A T 4: 121,148,330 I1151N probably benign Het
Scaper A G 9: 55,874,823 V283A probably benign Het
Sdccag3 A T 2: 26,387,676 probably benign Het
Slc25a43 A G X: 36,775,599 T270A probably benign Het
Slc35a5 A G 16: 45,143,781 V78A probably damaging Het
Smurf1 A T 5: 144,881,799 D636E probably benign Het
Tchhl1 A T 3: 93,470,275 E95D probably damaging Het
Tcp10a A G 17: 7,326,492 E72G possibly damaging Het
Tmem232 A G 17: 65,450,374 S275P probably damaging Het
Ugt1a5 T C 1: 88,166,818 F256S probably damaging Het
Vmn2r5 A G 3: 64,491,326 V744A probably benign Het
Vmn2r53 A T 7: 12,598,422 S433R probably benign Het
Vmn2r9 A T 5: 108,848,131 I217N probably damaging Het
Wdr83 G T 8: 85,080,587 A10E probably benign 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
IGL01408:Dmgdh APN 13 93709295 missense probably damaging 1.00
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
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 On2016-08-02