Incidental Mutation 'R8087:Dmgdh'
ID 629737
Institutional Source Beutler Lab
Gene Symbol Dmgdh
Ensembl Gene ENSMUSG00000042102
Gene Name dimethylglycine dehydrogenase precursor
Synonyms 1200014D15Rik
MMRRC Submission 067520-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8087 (G1)
Quality Score 221.009
Status Not validated
Chromosome 13
Chromosomal Location 93810944-93889331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93840379 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 270 (T270I)
Ref Sequence ENSEMBL: ENSMUSP00000039663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048001]
AlphaFold Q9DBT9
Predicted Effect possibly damaging
Transcript: ENSMUST00000048001
AA Change: T270I

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: T270I

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.7%
  • 20x: 83.0%
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: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930451I11Rik A G 7: 126,430,052 (GRCm39) V73A possibly damaging Het
Abcg1 T C 17: 31,283,459 (GRCm39) L48P probably benign Het
Ablim1 A G 19: 57,170,688 (GRCm39) W18R Het
Acss1 A G 2: 150,484,668 (GRCm39) F192L probably damaging Het
Arhgap32 A G 9: 32,168,324 (GRCm39) N769S probably benign Het
BC004004 T A 17: 29,513,064 (GRCm39) L163I probably damaging Het
Bco1 A T 8: 117,835,501 (GRCm39) T151S possibly damaging Het
Btbd8 T A 5: 107,632,953 (GRCm39) Y264N probably damaging Het
C1ra G A 6: 124,490,831 (GRCm39) V75I probably damaging Het
Cadps A C 14: 12,536,380 (GRCm38) W527G probably damaging Het
Calca T C 7: 114,231,809 (GRCm39) N85D probably benign Het
Capn13 A G 17: 73,623,279 (GRCm39) L644P probably damaging Het
Ccdc57 T C 11: 120,788,705 (GRCm39) I381V probably benign Het
Ccr1 A G 9: 123,764,371 (GRCm39) V53A probably benign Het
Cd27 G T 6: 125,210,325 (GRCm39) A234D possibly damaging Het
Cnpy4 T A 5: 138,188,532 (GRCm39) V46E probably damaging Het
Cspp1 T G 1: 10,174,489 (GRCm39) D647E possibly damaging Het
Ctnnd1 A T 2: 84,441,220 (GRCm39) F660I possibly damaging Het
Dchs1 A T 7: 105,402,706 (GRCm39) S3279T probably benign Het
Ddx11 T A 17: 66,456,988 (GRCm39) Y772N probably damaging Het
Dennd11 T A 6: 40,395,526 (GRCm39) D194V possibly damaging Het
Dgkd T A 1: 87,844,569 (GRCm39) V245E probably damaging Het
Elac2 A G 11: 64,870,034 (GRCm39) H33R probably benign Het
Emilin1 T A 5: 31,074,444 (GRCm39) D228E probably damaging Het
F2rl1 A G 13: 95,650,507 (GRCm39) L125P probably damaging Het
Fam186a A G 15: 99,839,725 (GRCm39) V2173A possibly damaging Het
Foxp4 C A 17: 48,215,355 (GRCm39) G30C probably damaging Het
Fyn T A 10: 39,405,553 (GRCm39) L273* probably null Het
Garnl3 G T 2: 32,935,548 (GRCm39) D196E probably benign Het
Glb1 A T 9: 114,259,483 (GRCm39) T220S probably damaging Het
Hsdl2 G T 4: 59,592,228 (GRCm39) A31S unknown Het
Irak3 T A 10: 120,018,440 (GRCm39) I103F probably benign Het
Khdrbs2 A T 1: 32,454,057 (GRCm39) M148L probably benign Het
Kif2c A T 4: 117,022,615 (GRCm39) S500R possibly damaging Het
Kmt2c T C 5: 25,534,250 (GRCm39) Y1500C probably damaging Het
Lrp2 T C 2: 69,278,473 (GRCm39) D3960G probably damaging Het
Map2k6 A T 11: 110,381,002 (GRCm39) I39L probably benign Het
Muc13 G T 16: 33,619,397 (GRCm39) Q48H unknown Het
Nlrp1b A T 11: 71,062,897 (GRCm39) I721N probably benign Het
Ntsr1 A T 2: 180,141,965 (GRCm39) probably benign Het
Nubp1 T C 16: 10,238,212 (GRCm39) probably null Het
Or2h2c T C 17: 37,422,440 (GRCm39) I145V probably benign Het
Ovol3 A C 7: 29,933,797 (GRCm39) D108E probably damaging Het
Pcdhb4 C A 18: 37,441,717 (GRCm39) N342K probably damaging Het
Pcgf3 A G 5: 108,634,102 (GRCm39) D120G probably benign Het
Pde6b T C 5: 108,536,328 (GRCm39) V8A probably benign Het
Pkhd1 G T 1: 20,593,313 (GRCm39) T1600K probably damaging Het
Pkp3 A G 7: 140,667,551 (GRCm39) I451V possibly damaging Het
Plce1 A G 19: 38,724,965 (GRCm39) T1439A probably damaging Het
Prr27 C A 5: 87,994,168 (GRCm39) N347K probably benign Het
Prss41 T C 17: 24,056,076 (GRCm39) Y259C probably damaging Het
Rasgef1b T C 5: 99,369,248 (GRCm39) I457V probably benign Het
Rspry1 G A 8: 95,380,925 (GRCm39) V534M probably benign Het
Rxrb T C 17: 34,254,763 (GRCm39) V306A probably benign Het
Sim1 T C 10: 50,785,651 (GRCm39) M240T possibly damaging Het
Slc22a4 A T 11: 53,886,887 (GRCm39) I285K possibly damaging Het
Slc4a2 GGCAGCAGCAGCAGCAGCA GGCAGCAGCAGCAGCA 5: 24,643,747 (GRCm39) probably benign Het
Snx19 T C 9: 30,375,698 (GRCm39) M993T probably benign Het
Sstr2 G A 11: 113,515,501 (GRCm39) R140H probably damaging Het
Syne1 C T 10: 5,283,034 (GRCm39) R1553Q probably benign Het
Tchp T C 5: 114,857,665 (GRCm39) I386T probably damaging Het
Tmem273 G T 14: 32,507,926 (GRCm39) probably benign Het
Traf7 G T 17: 24,731,038 (GRCm39) S304R possibly damaging Het
Trcg1 C T 9: 57,155,957 (GRCm39) L798F probably damaging Het
Ttc3 C T 16: 94,243,812 (GRCm39) P1272L probably benign Het
Ttf2 G T 3: 100,871,412 (GRCm39) A83E probably damaging Het
Uba3 T A 6: 97,162,344 (GRCm39) I421F possibly damaging Het
Ube3b T C 5: 114,550,550 (GRCm39) probably null Het
Ulk4 A G 9: 121,095,317 (GRCm39) L112P probably damaging Het
Unc5a A G 13: 55,143,985 (GRCm39) N150S probably damaging Het
Vac14 A T 8: 111,446,532 (GRCm39) K760N probably benign Het
Vmn2r113 A T 17: 23,177,711 (GRCm39) I832L possibly damaging Het
Vmn2r-ps158 A T 7: 42,697,094 (GRCm39) Y717F probably benign Het
Xpot T C 10: 121,437,232 (GRCm39) I830V probably benign Het
Zfp101 G A 17: 33,599,977 (GRCm39) T593I probably benign Het
Zfp54 A C 17: 21,655,260 (GRCm39) T585P probably damaging Het
Zfp663 T C 2: 165,195,679 (GRCm39) D180G probably benign 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
R6608:Dmgdh UTSW 13 93,843,252 (GRCm39) missense possibly damaging 0.81
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
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'- ACCTTTGCTTGTGCGTAATAGG -3'
(R):5'- CATTAGCTGAACCCACCTGGAG -3'

Sequencing Primer
(F):5'- CATGGAAGGAGCTTCTTTAAGTTTC -3'
(R):5'- AGGGACTCCGTGAGTGAC -3'
Posted On 2020-06-30