Incidental Mutation 'R6608:Dmgdh'
ID 526434
Institutional Source Beutler Lab
Gene Symbol Dmgdh
Ensembl Gene ENSMUSG00000042102
Gene Name dimethylglycine dehydrogenase precursor
Synonyms 1200014D15Rik
MMRRC Submission 044731-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6608 (G1)
Quality Score 191.009
Status Validated
Chromosome 13
Chromosomal Location 93810944-93889331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 93843252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 363 (G363S)
Ref Sequence ENSEMBL: ENSMUSP00000039663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048001]
AlphaFold Q9DBT9
Predicted Effect possibly damaging
Transcript: ENSMUST00000048001
AA Change: G363S

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: G363S

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.2%
Validation Efficiency 98% (43/44)
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
Acad10 T C 5: 121,770,555 (GRCm39) T571A probably benign Het
Adamts18 A T 8: 114,501,911 (GRCm39) Y317N probably damaging Het
Adgrg5 T C 8: 95,668,348 (GRCm39) F470S probably damaging Het
AK157302 T C 13: 21,679,794 (GRCm39) S107P probably damaging Het
Ankrd31 A G 13: 96,969,288 (GRCm39) Y975C probably damaging Het
Ankrd37 C T 8: 46,452,891 (GRCm39) probably benign Het
Aox1 T C 1: 58,096,705 (GRCm39) Y267H probably benign Het
Cdan1 A C 2: 120,557,161 (GRCm39) I555R possibly damaging Het
Clns1a A G 7: 97,365,675 (GRCm39) T226A probably benign Het
Col18a1 C T 10: 76,948,628 (GRCm39) probably benign Het
Col5a3 C A 9: 20,685,315 (GRCm39) V1454L unknown Het
Coq6 G A 12: 84,418,922 (GRCm39) V309I probably benign Het
Decr2 C T 17: 26,302,858 (GRCm39) V173M probably benign Het
Dnah7a A T 1: 53,564,277 (GRCm39) D1927E probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epm2a T C 10: 11,266,731 (GRCm39) probably null Het
Gm1979 T A 5: 26,206,094 (GRCm39) H162L probably benign Het
Irag1 A T 7: 110,487,758 (GRCm39) S486T probably damaging Het
Knl1 A G 2: 118,917,093 (GRCm39) N1759D probably damaging Het
Man1b1 T A 2: 25,233,263 (GRCm39) V212E probably damaging Het
Marf1 A G 16: 13,950,578 (GRCm39) L936S probably damaging Het
Mki67 G A 7: 135,300,090 (GRCm39) T1648I probably benign Het
Or2n1c T C 17: 38,519,370 (GRCm39) V78A probably damaging Het
Or3a1b T C 11: 74,012,454 (GRCm39) V113A probably benign Het
Or5d40 A G 2: 88,016,049 (GRCm39) Y276C possibly damaging Het
Or6n2 A G 1: 173,897,295 (GRCm39) M144V probably benign Het
Parp11 A G 6: 127,454,811 (GRCm39) I110V possibly damaging Het
Pcdhb5 A G 18: 37,454,876 (GRCm39) T419A probably damaging Het
Pitpnm1 A G 19: 4,160,875 (GRCm39) D838G probably damaging Het
Rbm26 T A 14: 105,389,934 (GRCm39) N230I probably damaging Het
Rnf20 C T 4: 49,650,051 (GRCm39) S540F probably benign Het
Rsad1 T C 11: 94,433,435 (GRCm39) D417G probably damaging Het
Serpina3c A T 12: 104,115,883 (GRCm39) N220K probably benign Het
Slc6a19 A G 13: 73,832,091 (GRCm39) L495P probably damaging Het
Stard7 A T 2: 127,132,715 (GRCm39) K194N probably damaging Het
Tinagl1 A G 4: 130,066,782 (GRCm39) M105T probably benign Het
Ttn G A 2: 76,579,673 (GRCm39) T23740M probably damaging Het
Tyk2 G T 9: 21,019,312 (GRCm39) Q1014K probably benign Het
Usp10 C T 8: 120,675,161 (GRCm39) R461W probably benign Het
Wsb1 C T 11: 79,131,188 (GRCm39) E403K probably benign Het
Ylpm1 C G 12: 85,062,051 (GRCm39) P651A unknown Het
Zp1 C T 19: 10,896,344 (GRCm39) C127Y possibly damaging Het
Zzef1 T A 11: 72,803,652 (GRCm39) F2466L probably damaging Het
Other mutations in Dmgdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Dmgdh APN 13 93,840,286 (GRCm39) splice site probably benign
IGL01406:Dmgdh APN 13 93,823,539 (GRCm39) splice site probably benign
IGL01408:Dmgdh APN 13 93,845,803 (GRCm39) missense probably damaging 1.00
IGL02167:Dmgdh APN 13 93,857,135 (GRCm39) splice site probably benign
IGL02538:Dmgdh APN 13 93,845,261 (GRCm39) missense possibly damaging 0.50
IGL02550:Dmgdh APN 13 93,854,083 (GRCm39) missense probably damaging 1.00
IGL02563:Dmgdh APN 13 93,811,047 (GRCm39) splice site probably benign
IGL02668:Dmgdh APN 13 93,840,418 (GRCm39) missense probably damaging 1.00
IGL02889:Dmgdh APN 13 93,852,185 (GRCm39) critical splice donor site probably null
IGL03293:Dmgdh APN 13 93,843,209 (GRCm39) missense probably benign 0.11
R0646:Dmgdh UTSW 13 93,888,863 (GRCm39) missense probably benign 0.04
R1531:Dmgdh UTSW 13 93,880,919 (GRCm39) missense probably damaging 1.00
R1746:Dmgdh UTSW 13 93,888,933 (GRCm39) missense probably benign
R1795:Dmgdh UTSW 13 93,843,207 (GRCm39) missense probably benign
R1943:Dmgdh UTSW 13 93,847,878 (GRCm39) missense probably benign 0.08
R1959:Dmgdh UTSW 13 93,857,067 (GRCm39) missense probably benign 0.01
R3421:Dmgdh UTSW 13 93,847,869 (GRCm39) missense probably benign 0.01
R3727:Dmgdh UTSW 13 93,828,575 (GRCm39) missense probably damaging 1.00
R4523:Dmgdh UTSW 13 93,825,138 (GRCm39) nonsense probably null
R5000:Dmgdh UTSW 13 93,825,046 (GRCm39) missense probably damaging 1.00
R5589:Dmgdh UTSW 13 93,813,665 (GRCm39) missense probably damaging 1.00
R5913:Dmgdh UTSW 13 93,888,831 (GRCm39) missense possibly damaging 0.92
R6056:Dmgdh UTSW 13 93,888,834 (GRCm39) missense probably damaging 1.00
R6056:Dmgdh UTSW 13 93,845,251 (GRCm39) missense possibly damaging 0.67
R6057:Dmgdh UTSW 13 93,888,960 (GRCm39) missense probably benign 0.00
R6180:Dmgdh UTSW 13 93,888,794 (GRCm39) missense possibly damaging 0.61
R6259:Dmgdh UTSW 13 93,888,816 (GRCm39) missense probably benign 0.01
R6636:Dmgdh UTSW 13 93,845,706 (GRCm39) missense probably benign 0.08
R6637:Dmgdh UTSW 13 93,845,706 (GRCm39) missense probably benign 0.08
R6739:Dmgdh UTSW 13 93,857,123 (GRCm39) missense probably benign 0.07
R7157:Dmgdh UTSW 13 93,852,043 (GRCm39) missense probably damaging 1.00
R7200:Dmgdh UTSW 13 93,828,393 (GRCm39) missense probably damaging 1.00
R7312:Dmgdh UTSW 13 93,845,354 (GRCm39) splice site probably null
R7349:Dmgdh UTSW 13 93,888,741 (GRCm39) missense possibly damaging 0.80
R8087:Dmgdh UTSW 13 93,840,379 (GRCm39) missense possibly damaging 0.95
R8288:Dmgdh UTSW 13 93,845,332 (GRCm39) missense probably damaging 1.00
R8290:Dmgdh UTSW 13 93,843,244 (GRCm39) missense probably benign 0.05
R8371:Dmgdh UTSW 13 93,845,238 (GRCm39) missense probably benign 0.00
R8469:Dmgdh UTSW 13 93,843,175 (GRCm39) missense probably damaging 1.00
R8768:Dmgdh UTSW 13 93,825,118 (GRCm39) missense possibly damaging 0.52
R8968:Dmgdh UTSW 13 93,845,767 (GRCm39) nonsense probably null
R9150:Dmgdh UTSW 13 93,825,103 (GRCm39) missense probably damaging 1.00
R9339:Dmgdh UTSW 13 93,847,941 (GRCm39) missense probably benign
R9425:Dmgdh UTSW 13 93,880,813 (GRCm39) missense probably benign 0.26
R9650:Dmgdh UTSW 13 93,845,333 (GRCm39) missense probably benign 0.44
R9664:Dmgdh UTSW 13 93,857,123 (GRCm39) missense probably benign 0.07
R9736:Dmgdh UTSW 13 93,843,158 (GRCm39) missense possibly damaging 0.91
R9747:Dmgdh UTSW 13 93,825,154 (GRCm39) missense probably damaging 1.00
X0066:Dmgdh UTSW 13 93,888,882 (GRCm39) missense possibly damaging 0.90
Z1177:Dmgdh UTSW 13 93,845,796 (GRCm39) missense probably damaging 1.00
Z1177:Dmgdh UTSW 13 93,813,691 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCACCTGTTTCAGAGACTGC -3'
(R):5'- TTGAAGTGCTTAGCCCATTACAC -3'

Sequencing Primer
(F):5'- TTCAGAGACTGCATCGATCTGAGAC -3'
(R):5'- AAGTGCTTAGCCCATTACACTAGTTC -3'
Posted On 2018-06-25