Incidental Mutation 'R6056:Dmgdh'
ID 484428
Institutional Source Beutler Lab
Gene Symbol Dmgdh
Ensembl Gene ENSMUSG00000042102
Gene Name dimethylglycine dehydrogenase precursor
Synonyms 1200014D15Rik
MMRRC Submission 044223-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6056 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 93810944-93889331 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 93888834 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 824 (V824A)
Ref Sequence ENSEMBL: ENSMUSP00000039663 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048001]
AlphaFold Q9DBT9
Predicted Effect probably damaging
Transcript: ENSMUST00000048001
AA Change: V824A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: V824A

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
Meta Mutation Damage Score 0.5742 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency 96% (99/103)
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,861,115 (GRCm39) W162R probably benign Het
4930438A08Rik C A 11: 58,184,464 (GRCm39) P394H probably damaging Het
Aggf1 C T 13: 95,508,123 (GRCm39) C81Y probably benign Het
Agxt2 A T 15: 10,378,963 (GRCm39) D188V probably damaging Het
Angpt2 T C 8: 18,748,132 (GRCm39) K376R probably benign Het
Anxa5 A G 3: 36,504,840 (GRCm39) S241P probably damaging Het
Aox3 A T 1: 58,209,018 (GRCm39) K850N probably damaging Het
Arid5a T C 1: 36,358,473 (GRCm39) M415T probably benign Het
Aspa T A 11: 73,199,578 (GRCm39) N233I probably damaging Het
Atp4b C T 8: 13,438,782 (GRCm39) R198Q probably damaging Het
Atp8b2 A T 3: 89,853,528 (GRCm39) V719E possibly damaging Het
Bltp2 C A 11: 78,162,210 (GRCm39) L691I possibly damaging Het
Cacna1s T G 1: 136,033,574 (GRCm39) V1017G probably damaging Het
Chrna4 G T 2: 180,671,235 (GRCm39) Q174K probably damaging Het
Chrnb1 A T 11: 69,677,765 (GRCm39) V329D probably damaging Het
Chst14 T C 2: 118,758,214 (GRCm39) L336P probably damaging Het
Clec2e T C 6: 129,077,772 (GRCm39) D22G probably benign Het
Csrnp2 A C 15: 100,380,263 (GRCm39) S343A probably benign Het
Dapl1 C A 2: 59,315,057 (GRCm39) A2E probably damaging Het
Dlec1 G T 9: 118,950,991 (GRCm39) R519L probably damaging Het
Dnah11 T G 12: 117,892,191 (GRCm39) T3661P probably benign Het
Dnah3 A G 7: 119,629,254 (GRCm39) F1434L probably damaging Het
Dnajc11 C A 4: 152,062,583 (GRCm39) probably benign Het
Dot1l A G 10: 80,621,929 (GRCm39) E527G probably damaging Het
Drc7 T C 8: 95,801,679 (GRCm39) L680P probably damaging Het
Dysf T C 6: 84,083,844 (GRCm39) Y742H probably benign Het
Ece1 A G 4: 137,688,958 (GRCm39) Y665C probably damaging Het
Emc1 A G 4: 139,081,533 (GRCm39) K54E possibly damaging Het
Enoph1 C T 5: 100,215,760 (GRCm39) T247M probably damaging Het
Exoc2 T C 13: 31,084,812 (GRCm39) K383R probably benign Het
Fam227b A T 2: 125,962,972 (GRCm39) H181Q probably damaging Het
Fsip2 A T 2: 82,816,017 (GRCm39) M3917L probably benign Het
Gtf3a T A 5: 146,892,338 (GRCm39) probably benign Het
Hgfac T A 5: 35,198,973 (GRCm39) C11* probably null Het
Hmcn1 C A 1: 150,539,660 (GRCm39) A2944S probably damaging Het
Hps5 T A 7: 46,416,521 (GRCm39) Y947F probably benign Het
Ighv2-5 A T 12: 113,649,120 (GRCm39) I111K probably benign Het
Inpp5e A T 2: 26,297,860 (GRCm39) L247* probably null Het
Kbtbd11 T C 8: 15,077,577 (GRCm39) S59P probably benign Het
Kctd19 G A 8: 106,123,082 (GRCm39) H111Y probably damaging Het
Kif1a T C 1: 92,952,370 (GRCm39) D1303G probably damaging Het
Kif7 A G 7: 79,363,842 (GRCm39) V22A possibly damaging Het
Lrit3 A T 3: 129,583,004 (GRCm39) C328S probably damaging Het
Lrrc37a G T 11: 103,388,484 (GRCm39) Q2314K unknown Het
LTO1 G T 7: 144,469,023 (GRCm39) V17L possibly damaging Het
Lurap1 G T 4: 115,994,599 (GRCm39) P211T possibly damaging Het
Mbd2 T A 18: 70,713,874 (GRCm39) N5K possibly damaging Het
Mbtps1 A C 8: 120,242,341 (GRCm39) L894V probably benign Het
Mefv G A 16: 3,525,906 (GRCm39) S787F possibly damaging Het
Miip T A 4: 147,946,792 (GRCm39) I289F probably damaging Het
Mogat2 T A 7: 98,872,720 (GRCm39) I155F possibly damaging Het
Mpp3 C A 11: 101,902,515 (GRCm39) probably null Het
Mrrf A G 2: 36,067,233 (GRCm39) K220E probably damaging Het
Mtmr6 C T 14: 60,535,619 (GRCm39) P485L probably damaging Het
Mtor G A 4: 148,621,892 (GRCm39) R1896K probably benign Het
Myh3 C T 11: 66,978,371 (GRCm39) P453S probably benign Het
Nebl A G 2: 17,455,045 (GRCm39) V112A probably benign Het
Nmnat2 G A 1: 152,950,480 (GRCm39) W55* probably null Het
Nprl3 A G 11: 32,217,432 (GRCm39) S37P probably damaging Het
Or4a73 T C 2: 89,421,445 (GRCm39) N5D possibly damaging Het
Pcdhga4 T G 18: 37,819,383 (GRCm39) S311A probably benign Het
Pcdhgb6 T C 18: 37,876,165 (GRCm39) V291A probably benign Het
Peg10 GAT GATCAT 6: 4,756,449 (GRCm39) probably benign Het
Peg3 T C 7: 6,712,570 (GRCm39) E884G probably damaging Het
Pgpep1 G A 8: 71,105,101 (GRCm39) T53M probably damaging Het
Phf12 A G 11: 77,900,341 (GRCm39) T146A probably benign Het
Polr3k C G 2: 181,506,281 (GRCm39) N10K probably damaging Het
Prickle4 C A 17: 48,001,135 (GRCm39) G144C probably damaging Het
Ptpn6 T C 6: 124,709,398 (GRCm39) Y25C probably damaging Het
Rad1 A G 15: 10,488,160 (GRCm39) I95V probably damaging Het
Rad23b A G 4: 55,382,540 (GRCm39) T248A probably benign Het
Rapgef3 T C 15: 97,656,742 (GRCm39) D299G probably damaging Het
Rcc2 T G 4: 140,444,335 (GRCm39) V342G possibly damaging Het
Rgs3 G T 4: 62,544,143 (GRCm39) R136L probably damaging Het
Scube2 A T 7: 109,432,220 (GRCm39) C399* probably null Het
Serpinb3d T C 1: 107,007,452 (GRCm39) Y178C probably damaging Het
Slc1a7 A G 4: 107,869,458 (GRCm39) T508A probably benign Het
Slc29a4 C T 5: 142,705,832 (GRCm39) R439C probably damaging Het
Sntg2 A G 12: 30,362,560 (GRCm39) I62T probably benign Het
Sowaha G A 11: 53,369,914 (GRCm39) P274L probably damaging Het
Sptan1 A G 2: 29,886,794 (GRCm39) N869S probably benign Het
Stx18 C A 5: 38,263,908 (GRCm39) A64D probably damaging Het
Stxbp5 A G 10: 9,646,430 (GRCm39) V94A probably benign Het
Sult1a1 T A 7: 126,275,624 (GRCm39) probably null Het
Susd1 G T 4: 59,379,687 (GRCm39) H313Q possibly damaging Het
Tdrd9 A T 12: 111,951,475 (GRCm39) K88N probably damaging Het
Tlr5 A C 1: 182,801,603 (GRCm39) R302S possibly damaging Het
Tnr C T 1: 159,714,479 (GRCm39) T786I probably damaging Het
Tprg1l A G 4: 154,244,552 (GRCm39) S148P probably damaging Het
Trpc4ap T A 2: 155,512,994 (GRCm39) N127I probably damaging Het
Tulp2 T A 7: 45,139,797 (GRCm39) probably null Het
Uggt2 C T 14: 119,273,381 (GRCm39) probably null Het
Ulk4 T A 9: 121,102,021 (GRCm39) Y19F probably damaging Het
Upf1 T C 8: 70,785,687 (GRCm39) Y1053C probably damaging Het
Vars2 A T 17: 35,976,680 (GRCm39) H223Q probably benign Het
Vmn2r106 T A 17: 20,487,806 (GRCm39) probably null Het
Ythdc2 T A 18: 44,973,277 (GRCm39) F305I probably damaging Het
Zfp281 T C 1: 136,553,178 (GRCm39) F52S possibly damaging Het
Zfp292 A T 4: 34,809,784 (GRCm39) C1087S probably damaging Het
Zfp335 A T 2: 164,737,018 (GRCm39) probably null 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 93,845,251 (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
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'- TGAGACCCACAATTCTGTACAC -3'
(R):5'- GCTACCTTTATCCTGGCAGG -3'

Posted On 2017-07-14