Incidental Mutation 'R7349:Dmgdh'
ID 570450
Institutional Source Beutler Lab
Gene Symbol Dmgdh
Ensembl Gene ENSMUSG00000042102
Gene Name dimethylglycine dehydrogenase precursor
Synonyms 1200014D15Rik
MMRRC Submission 045435-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7349 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 93810944-93889331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 93888741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Isoleucine at position 793 (T793I)
Ref Sequence ENSEMBL: ENSMUSP00000039663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048001]
AlphaFold Q9DBT9
Predicted Effect possibly damaging
Transcript: ENSMUST00000048001
AA Change: T793I

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: T793I

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: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 100% (70/70)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930486L24Rik T A 13: 60,990,717 (GRCm39) T326S possibly damaging Het
Acly A T 11: 100,412,817 (GRCm39) H91Q probably benign Het
Acp3 T A 9: 104,168,657 (GRCm39) I403F probably benign Het
Angpt2 T A 8: 18,742,090 (GRCm39) M489L probably damaging Het
Arap1 T C 7: 101,039,435 (GRCm39) I565T possibly damaging Het
Atg16l2 T C 7: 100,939,473 (GRCm39) D563G probably damaging Het
Atp6v0a2 T A 5: 124,789,392 (GRCm39) Y386* probably null Het
Atp8b4 A G 2: 126,167,265 (GRCm39) V1078A probably benign Het
Bsn T C 9: 107,987,982 (GRCm39) D2590G unknown Het
Casp12 T C 9: 5,345,527 (GRCm39) probably null Het
Ccdc87 T C 19: 4,891,868 (GRCm39) S787P probably damaging Het
Cdh13 A G 8: 119,969,097 (GRCm39) T485A probably damaging Het
Cstdc5 A G 16: 36,184,674 (GRCm39) V23A probably damaging Het
Dip2a T C 10: 76,121,426 (GRCm39) H810R probably damaging Het
Dmbt1 A T 7: 130,642,854 (GRCm39) Y120F unknown Het
Dnhd1 A G 7: 105,359,330 (GRCm39) D3555G probably damaging Het
Eif4e1b T C 13: 54,932,006 (GRCm39) V30A probably benign Het
Ercc5 T G 1: 44,220,068 (GRCm39) D1113E possibly damaging Het
Fbn1 T C 2: 125,157,321 (GRCm39) N2321D possibly damaging Het
Fbrs T C 7: 127,081,971 (GRCm39) L237P probably damaging Het
Flg2 T A 3: 93,127,513 (GRCm39) S2142T unknown Het
Ftsj3 G A 11: 106,140,572 (GRCm39) T761I probably damaging Het
Gdi2 C A 13: 3,606,395 (GRCm39) T157N probably benign Het
Gm8122 C A 14: 43,088,058 (GRCm39) probably null Het
Gtpbp10 T C 5: 5,605,379 (GRCm39) E108G possibly damaging Het
Hectd4 T C 5: 121,448,726 (GRCm39) L358P probably damaging Het
Herc3 T C 6: 58,835,971 (GRCm39) C271R probably benign Het
Hspb1 C T 5: 135,918,187 (GRCm39) T178M possibly damaging Het
Htr3b C T 9: 48,847,319 (GRCm39) V399M probably benign Het
Hydin A G 8: 111,124,803 (GRCm39) probably null Het
Itpr3 T A 17: 27,326,786 (GRCm39) probably null Het
Iyd G T 10: 3,495,638 (GRCm39) V99F possibly damaging Het
Lrrc36 G A 8: 106,178,900 (GRCm39) G365D probably damaging Het
Map1b T A 13: 99,570,148 (GRCm39) I858F unknown Het
Med12l A T 3: 59,165,746 (GRCm39) D1488V probably damaging Het
Ms4a6c T A 19: 11,455,555 (GRCm39) N121K probably damaging Het
Nlrp1b T G 11: 71,072,943 (GRCm39) Q300P probably benign Het
Nlrp3 G A 11: 59,438,912 (GRCm39) R163H probably damaging Het
Nr4a3 T G 4: 48,051,290 (GRCm39) S15A possibly damaging Het
Optc T G 1: 133,825,617 (GRCm39) D356A probably damaging Het
Or52h7 A G 7: 104,213,857 (GRCm39) H143R probably benign Het
Or9s15 T C 1: 92,524,904 (GRCm39) V221A possibly damaging Het
Pdzd2 C G 15: 12,399,291 (GRCm39) V812L probably damaging Het
Phlpp2 T C 8: 110,655,278 (GRCm39) F691S probably damaging Het
Pigk T C 3: 152,453,238 (GRCm39) F319L probably benign Het
Pkhd1l1 A G 15: 44,378,350 (GRCm39) T1035A probably damaging Het
Plekhg3 A G 12: 76,611,339 (GRCm39) T261A probably benign Het
Plekhm1 A G 11: 103,278,160 (GRCm39) F312S probably damaging Het
Pms2 T A 5: 143,862,654 (GRCm39) I587N probably benign Het
Ppl T A 16: 4,922,593 (GRCm39) H272L probably damaging Het
Prkce G A 17: 86,800,783 (GRCm39) A400T probably benign Het
Ptpn9 T C 9: 56,951,660 (GRCm39) S324P probably benign Het
Ptprk A T 10: 28,468,834 (GRCm39) N1432I possibly damaging Het
R3hdm2 T C 10: 127,328,515 (GRCm39) S746P probably benign Het
Rnf220 G A 4: 117,135,015 (GRCm39) A412V probably damaging Het
Scel G A 14: 103,781,315 (GRCm39) A154T probably benign Het
Sirpb1a A T 3: 15,475,664 (GRCm39) N290K probably damaging Het
Sirpb1c A T 3: 15,886,310 (GRCm39) probably null Het
Sorbs2 A T 8: 46,248,860 (GRCm39) R704* probably null Het
Spast T C 17: 74,680,319 (GRCm39) V427A probably damaging Het
Stxbp4 A T 11: 90,482,937 (GRCm39) probably null Het
Thsd7a C A 6: 12,352,067 (GRCm39) G1043C Het
Tmem205 C T 9: 21,832,410 (GRCm39) C167Y probably damaging Het
Trappc9 A T 15: 72,608,718 (GRCm39) L897* probably null Het
Trim36 A G 18: 46,302,495 (GRCm39) F518L probably benign Het
Ttc12 T G 9: 49,359,267 (GRCm39) T402P possibly damaging Het
Twnk T C 19: 44,998,600 (GRCm39) V506A possibly damaging Het
Vmn2r18 A T 5: 151,485,682 (GRCm39) L604* probably null Het
Wdr83 T C 8: 85,806,460 (GRCm39) N113D possibly damaging Het
Zfp628 G A 7: 4,924,817 (GRCm39) G1013E 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
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
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'- TGTGGAACTATTTCAGGGTGAGAC -3'
(R):5'- CAACTTGGTTGTCCGGGATG -3'

Sequencing Primer
(F):5'- GTGAGACCCACAATTCTGTACACTG -3'
(R):5'- ACCGTCTTTCTGAAGCCTGG -3'
Posted On 2019-09-13