Incidental Mutation 'IGL02889:Dmgdh'
ID363128
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 #IGL02889
Quality Score
Status
Chromosome13
Chromosomal Location93674433-93752833 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 93715677 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000039663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048001] [ENSMUST00000048001]
Predicted Effect probably null
Transcript: ENSMUST00000048001
SMART Domains Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102

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 probably null
Transcript: ENSMUST00000048001
SMART Domains Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102

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: ENSMUST00000148316
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932415D10Rik C T 10: 82,283,820 S482N probably damaging Het
Adarb1 C T 10: 77,313,541 V371I probably benign Het
Amdhd2 A G 17: 24,157,787 L308P probably damaging Het
Antxr2 G T 5: 97,977,650 H249Q probably benign Het
Arg1 A T 10: 24,915,755 M276K probably damaging Het
Bloc1s6 T C 2: 122,742,684 Y60H probably damaging Het
Btnl9 A T 11: 49,178,777 V225E probably damaging Het
Ccdc129 A T 6: 55,901,458 D402V possibly damaging Het
Col1a1 T C 11: 94,951,509 Y1418H unknown Het
Dhx57 A T 17: 80,247,152 I1162K possibly damaging Het
Ear10 A G 14: 43,923,269 F34L probably damaging Het
Fli1 A G 9: 32,465,696 I92T probably damaging Het
Fpgs G A 2: 32,685,879 probably benign Het
Glp1r T A 17: 30,931,144 probably benign Het
Gm648 C A X: 56,547,191 K19N probably damaging Het
Hectd4 T A 5: 121,365,053 Y4362N possibly damaging Het
Ifitm3 C T 7: 141,009,879 R87Q probably damaging Het
Ints3 G T 3: 90,392,836 H925N probably damaging Het
Itgb4 T A 11: 115,988,905 C628S probably damaging Het
Kcnh3 A T 15: 99,227,110 E147V probably null Het
Krtap19-4 T C 16: 88,885,056 Y4C unknown Het
Lrp2 A T 2: 69,552,450 S30R possibly damaging Het
Olfr743 A G 14: 50,533,513 I34V probably benign Het
Olfr971 A G 9: 39,840,237 M268V probably benign Het
Prima1 A G 12: 103,197,316 V132A probably benign Het
Psme1 A G 14: 55,579,926 probably benign Het
Rab11fip3 C A 17: 26,067,679 R500L possibly damaging Het
Rnf40 C A 7: 127,591,429 S255* probably null Het
Sebox T C 11: 78,504,330 V166A probably benign Het
Spata24 C A 18: 35,656,752 R194L probably benign Het
Tbx4 T A 11: 85,899,795 Y154* probably null Het
Trim24 G A 6: 37,957,761 E768K probably benign Het
Ttn A G 2: 76,731,960 V28847A possibly damaging Het
Utp6 T A 11: 79,949,070 Q264L possibly damaging Het
Vim A G 2: 13,580,680 R424G probably damaging Het
Vmn1r216 A C 13: 23,099,479 T111P probably damaging Het
Wnt11 G A 7: 98,850,359 A244T probably damaging Het
Zbtb26 A C 2: 37,436,249 N247K probably benign Het
Zfp629 T G 7: 127,610,031 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
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 On2015-12-18