Incidental Mutation 'R8288:Dmgdh'
| ID |
638541 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmgdh
|
| Ensembl Gene |
ENSMUSG00000042102 |
| Gene Name |
dimethylglycine dehydrogenase precursor |
| Synonyms |
1200014D15Rik |
| MMRRC Submission |
067710-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8288 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
93810944-93889331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93845332 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 442
(Y442H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048001]
|
| AlphaFold |
Q9DBT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048001
AA Change: Y442H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: Y442H
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap3m2 |
C |
T |
8: 23,283,153 (GRCm39) |
A200T |
probably benign |
Het |
| Arpp19 |
T |
C |
9: 74,944,914 (GRCm39) |
M1T |
probably null |
Het |
| Baiap2 |
T |
A |
11: 119,888,465 (GRCm39) |
V407E |
probably damaging |
Het |
| Cdh18 |
A |
G |
15: 23,446,073 (GRCm39) |
T508A |
probably damaging |
Het |
| Cnnm3 |
C |
A |
1: 36,551,074 (GRCm39) |
A28E |
possibly damaging |
Het |
| Cpb1 |
A |
T |
3: 20,319,531 (GRCm39) |
C184* |
probably null |
Het |
| Ddb1 |
T |
C |
19: 10,585,712 (GRCm39) |
V142A |
probably benign |
Het |
| Disp2 |
T |
C |
2: 118,620,762 (GRCm39) |
V498A |
probably damaging |
Het |
| Dync2i1 |
A |
G |
12: 116,177,345 (GRCm39) |
F811S |
probably damaging |
Het |
| Eef2k |
T |
A |
7: 120,502,604 (GRCm39) |
M722K |
probably damaging |
Het |
| Erbb4 |
A |
G |
1: 68,337,509 (GRCm39) |
F603S |
probably damaging |
Het |
| Filip1l |
C |
T |
16: 57,390,917 (GRCm39) |
R502C |
probably damaging |
Het |
| Gbp9 |
C |
T |
5: 105,253,599 (GRCm39) |
V39M |
probably damaging |
Het |
| Gm17079 |
T |
C |
14: 51,931,815 (GRCm39) |
Y98C |
|
Het |
| Gstz1 |
A |
G |
12: 87,194,604 (GRCm39) |
M1V |
probably null |
Het |
| Hsd17b13 |
T |
G |
5: 104,111,701 (GRCm39) |
I281L |
probably benign |
Het |
| Hydin |
A |
G |
8: 111,233,661 (GRCm39) |
E1833G |
probably damaging |
Het |
| Irs1 |
G |
A |
1: 82,265,682 (GRCm39) |
Q845* |
probably null |
Het |
| Kctd11 |
C |
T |
11: 69,770,883 (GRCm39) |
G52R |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,815,149 (GRCm39) |
S962P |
probably damaging |
Het |
| Lrrn1 |
C |
T |
6: 107,543,955 (GRCm39) |
|
probably benign |
Het |
| Mastl |
T |
C |
2: 23,023,371 (GRCm39) |
K451E |
probably damaging |
Het |
| Mptx2 |
A |
G |
1: 173,102,356 (GRCm39) |
V111A |
probably benign |
Het |
| Nuak2 |
G |
T |
1: 132,255,579 (GRCm39) |
C178F |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,374,047 (GRCm39) |
R71H |
probably benign |
Het |
| Pclo |
C |
A |
5: 14,762,885 (GRCm39) |
T501K |
|
Het |
| Pla2g4e |
C |
T |
2: 120,018,990 (GRCm39) |
|
probably null |
Het |
| Polq |
A |
G |
16: 36,848,272 (GRCm39) |
E293G |
probably damaging |
Het |
| Rptor |
G |
A |
11: 119,748,763 (GRCm39) |
E782K |
probably benign |
Het |
| Scn7a |
T |
A |
2: 66,506,318 (GRCm39) |
R1524W |
probably damaging |
Het |
| Slc4a5 |
T |
C |
6: 83,203,237 (GRCm39) |
S46P |
probably benign |
Het |
| Srcap |
T |
A |
7: 127,130,528 (GRCm39) |
I664N |
probably damaging |
Het |
| Stk24 |
A |
C |
14: 121,530,841 (GRCm39) |
F372V |
possibly damaging |
Het |
| Szt2 |
T |
C |
4: 118,246,973 (GRCm39) |
S881G |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,194,210 (GRCm39) |
D161G |
probably benign |
Het |
| Trip11 |
T |
C |
12: 101,860,643 (GRCm39) |
H234R |
possibly damaging |
Het |
| Trpc1 |
T |
C |
9: 95,603,434 (GRCm39) |
K366R |
probably damaging |
Het |
| Ugt2b35 |
T |
C |
5: 87,149,316 (GRCm39) |
L189P |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,512,509 (GRCm39) |
S140G |
probably benign |
Het |
| Zfp446 |
A |
G |
7: 12,711,885 (GRCm39) |
E36G |
probably benign |
Het |
| Zfp738 |
T |
A |
13: 67,818,908 (GRCm39) |
H361L |
possibly damaging |
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 |
|
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 |
|
R8087:Dmgdh
|
UTSW |
13 |
93,840,379 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- TTTGGACGTGTTTCACCACTTG -3'
(R):5'- GTGATGGACCCAATACGTTAAAC -3'
Sequencing Primer
(F):5'- GACGTGTTTCACCACTTGAATGC -3'
(R):5'- GGACCCAATACGTTAAACATATACAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation