Incidental Mutation 'R3727:Dmgdh'
ID |
270843 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dmgdh
|
Ensembl Gene |
ENSMUSG00000042102 |
Gene Name |
dimethylglycine dehydrogenase precursor |
Synonyms |
1200014D15Rik |
MMRRC Submission |
040718-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3727 (G1)
|
Quality Score |
213 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
93810944-93889331 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 93828575 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 239
(N239D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000039663
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048001]
|
AlphaFold |
Q9DBT9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048001
AA Change: N239D
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000039663 Gene: ENSMUSG00000042102 AA Change: N239D
Domain | Start | End | E-Value | Type |
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 |
0.7756 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
Validation Efficiency |
100% (39/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ago2 |
C |
T |
15: 72,985,706 (GRCm39) |
V630M |
probably damaging |
Het |
Alk |
T |
C |
17: 72,208,395 (GRCm39) |
|
probably benign |
Het |
Atp6v0a1 |
T |
A |
11: 100,921,246 (GRCm39) |
S243T |
probably benign |
Het |
BC035044 |
C |
A |
6: 128,867,822 (GRCm39) |
G37* |
probably null |
Het |
C3 |
G |
T |
17: 57,514,379 (GRCm39) |
N1435K |
possibly damaging |
Het |
Caly |
T |
C |
7: 139,650,417 (GRCm39) |
E175G |
probably damaging |
Het |
Ccng2 |
T |
C |
5: 93,422,810 (GRCm39) |
F330S |
probably damaging |
Het |
Cemip2 |
G |
A |
19: 21,822,075 (GRCm39) |
A1157T |
probably benign |
Het |
Cyp2c38 |
A |
G |
19: 39,380,739 (GRCm39) |
|
probably benign |
Het |
Cypt1 |
T |
A |
X: 16,389,674 (GRCm39) |
L128* |
probably null |
Het |
Dnah8 |
C |
T |
17: 30,958,622 (GRCm39) |
Q2155* |
probably null |
Het |
Dpp3 |
A |
G |
19: 4,973,213 (GRCm39) |
I127T |
probably benign |
Het |
Eps15 |
G |
T |
4: 109,227,882 (GRCm39) |
|
probably benign |
Het |
Exosc10 |
A |
G |
4: 148,649,734 (GRCm39) |
D388G |
probably damaging |
Het |
Flt3 |
C |
A |
5: 147,291,733 (GRCm39) |
R572S |
probably damaging |
Het |
Gm44501 |
T |
C |
17: 40,887,506 (GRCm39) |
F8S |
unknown |
Het |
Hormad2 |
C |
A |
11: 4,358,598 (GRCm39) |
G270C |
probably benign |
Het |
Ifrd2 |
C |
T |
9: 107,468,881 (GRCm39) |
R40* |
probably null |
Het |
Ina |
G |
A |
19: 47,004,158 (GRCm39) |
R322H |
possibly damaging |
Het |
Kif13b |
A |
G |
14: 65,003,197 (GRCm39) |
|
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,340,773 (GRCm39) |
N1034S |
probably damaging |
Het |
Macf1 |
T |
A |
4: 123,353,104 (GRCm39) |
E1770V |
probably damaging |
Het |
Mpi |
T |
C |
9: 57,452,132 (GRCm39) |
I381M |
possibly damaging |
Het |
Nfix |
CAAAAA |
CAAAA |
8: 85,442,876 (GRCm39) |
|
probably null |
Het |
Nt5c |
C |
T |
11: 115,381,474 (GRCm39) |
W185* |
probably null |
Het |
Or2j3 |
A |
T |
17: 38,616,310 (GRCm39) |
I14N |
possibly damaging |
Het |
Or2y1e |
G |
A |
11: 49,218,622 (GRCm39) |
R128H |
probably benign |
Het |
Pcdhga9 |
G |
A |
18: 37,871,995 (GRCm39) |
R608H |
probably benign |
Het |
Pdzrn3 |
T |
A |
6: 101,133,906 (GRCm39) |
D441V |
probably damaging |
Het |
Rab42 |
A |
G |
4: 132,029,964 (GRCm39) |
M86T |
probably benign |
Het |
Slc52a3 |
C |
T |
2: 151,847,701 (GRCm39) |
P270S |
probably benign |
Het |
Stpg2 |
T |
C |
3: 139,004,257 (GRCm39) |
F278S |
probably damaging |
Het |
Styxl2 |
G |
A |
1: 165,927,075 (GRCm39) |
R846C |
probably damaging |
Het |
Tmem240 |
T |
C |
4: 155,824,235 (GRCm39) |
|
probably benign |
Het |
Vmn2r22 |
A |
G |
6: 123,627,584 (GRCm39) |
L4P |
possibly damaging |
Het |
Vmn2r95 |
C |
T |
17: 18,661,744 (GRCm39) |
Q497* |
probably null |
Het |
Wnk1 |
T |
C |
6: 119,969,414 (GRCm39) |
H347R |
probably damaging |
Het |
Zmym2 |
A |
T |
14: 57,156,806 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Dmgdh |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
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 |
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'- ATGGTTGACTTAGATTTTAGCCGGAC -3'
(R):5'- CCCTGATCCCTGGAGTTTGATC -3'
Sequencing Primer
(F):5'- TTTAGCCGGACTGTATAACCCAGG -3'
(R):5'- ATCCCTGGAGTTTGATCATGAGC -3'
|
Posted On |
2015-03-18 |