Incidental Mutation 'R7200:Dmgdh'
| ID |
560252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmgdh
|
| Ensembl Gene |
ENSMUSG00000042102 |
| Gene Name |
dimethylglycine dehydrogenase precursor |
| Synonyms |
1200014D15Rik |
| MMRRC Submission |
045278-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7200 (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 93828393 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 178
(L178P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048001]
|
| AlphaFold |
Q9DBT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048001
AA Change: L178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: L178P
| 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 |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.8%
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700086D15Rik |
A |
G |
11: 65,043,836 (GRCm39) |
M75T |
unknown |
Het |
| 2700049A03Rik |
T |
G |
12: 71,187,680 (GRCm39) |
N105K |
probably damaging |
Het |
| Acvr1c |
A |
T |
2: 58,205,867 (GRCm39) |
V31E |
probably damaging |
Het |
| Adra1d |
T |
A |
2: 131,403,170 (GRCm39) |
T307S |
probably benign |
Het |
| Akr1c14 |
T |
C |
13: 4,131,051 (GRCm39) |
Y248H |
probably benign |
Het |
| Ankub1 |
T |
C |
3: 57,580,406 (GRCm39) |
T84A |
probably benign |
Het |
| Asb3 |
C |
A |
11: 30,948,348 (GRCm39) |
S8* |
probably null |
Het |
| AU041133 |
G |
A |
10: 81,986,935 (GRCm39) |
G196D |
possibly damaging |
Het |
| B4galt7 |
T |
C |
13: 55,756,155 (GRCm39) |
C214R |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,254,921 (GRCm39) |
S140P |
possibly damaging |
Het |
| Ciz1 |
T |
C |
2: 32,254,299 (GRCm39) |
L80P |
probably damaging |
Het |
| Col6a4 |
G |
A |
9: 105,949,448 (GRCm39) |
P729L |
possibly damaging |
Het |
| Cr2 |
A |
G |
1: 194,845,557 (GRCm39) |
C133R |
probably damaging |
Het |
| Dock5 |
C |
A |
14: 68,009,151 (GRCm39) |
E1448* |
probably null |
Het |
| Elavl1 |
A |
G |
8: 4,361,767 (GRCm39) |
S2P |
probably benign |
Het |
| Flywch1 |
T |
C |
17: 23,980,033 (GRCm39) |
H247R |
possibly damaging |
Het |
| Gabpb1 |
A |
T |
2: 126,481,222 (GRCm39) |
I309N |
possibly damaging |
Het |
| Glrx3 |
T |
C |
7: 137,066,165 (GRCm39) |
F298L |
possibly damaging |
Het |
| Gpc6 |
G |
A |
14: 118,202,268 (GRCm39) |
V493I |
probably benign |
Het |
| H2-T13 |
A |
T |
17: 36,391,938 (GRCm39) |
I45N |
possibly damaging |
Het |
| Hadha |
C |
T |
5: 30,350,315 (GRCm39) |
E78K |
probably benign |
Het |
| Hjurp |
TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT |
TCT |
1: 88,194,000 (GRCm39) |
|
probably benign |
Het |
| Ldlrad3 |
G |
T |
2: 101,943,903 (GRCm39) |
F56L |
probably damaging |
Het |
| Ldlrad3 |
A |
G |
2: 101,943,905 (GRCm39) |
F56L |
probably damaging |
Het |
| Mapk4 |
A |
T |
18: 74,063,990 (GRCm39) |
S411T |
possibly damaging |
Het |
| Mcm9 |
A |
G |
10: 53,492,019 (GRCm39) |
M382T |
|
Het |
| Muc21 |
TCCTGAGGCAGTGCTGGATACAGGGGTGGTTGGGGTGGGTGAAGAGCCTGAGGCAGTGCTGGAT |
TCCTGAGGCAGTGCTGGAT |
17: 35,933,525 (GRCm39) |
|
probably benign |
Het |
| Or2t6 |
A |
T |
14: 14,175,477 (GRCm38) |
C202S |
probably damaging |
Het |
| Or5b104 |
T |
C |
19: 13,072,596 (GRCm39) |
T139A |
probably benign |
Het |
| Pacs1 |
A |
C |
19: 5,206,441 (GRCm39) |
I248S |
possibly damaging |
Het |
| Pi16 |
C |
A |
17: 29,538,208 (GRCm39) |
P7Q |
possibly damaging |
Het |
| Plekhg1 |
T |
C |
10: 3,906,810 (GRCm39) |
S631P |
|
Het |
| Rars2 |
A |
T |
4: 34,645,747 (GRCm39) |
K221N |
probably benign |
Het |
| Retsat |
T |
C |
6: 72,583,002 (GRCm39) |
S388P |
possibly damaging |
Het |
| Rft1 |
G |
A |
14: 30,404,814 (GRCm39) |
|
probably null |
Het |
| Rgsl1 |
A |
G |
1: 153,660,945 (GRCm39) |
V345A |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,137,620 (GRCm39) |
S320R |
probably benign |
Het |
| Sel1l3 |
T |
A |
5: 53,301,451 (GRCm39) |
Y722F |
probably benign |
Het |
| Slc13a4 |
T |
C |
6: 35,264,285 (GRCm39) |
E194G |
possibly damaging |
Het |
| Spata17 |
G |
A |
1: 186,844,700 (GRCm39) |
R300C |
probably benign |
Het |
| Tacc1 |
G |
A |
8: 25,731,656 (GRCm39) |
|
probably benign |
Het |
| Tc2n |
T |
G |
12: 101,655,314 (GRCm39) |
I214L |
probably damaging |
Het |
| Tet2 |
T |
C |
3: 133,192,953 (GRCm39) |
S494G |
probably benign |
Het |
| Tmco5b |
A |
T |
2: 113,121,722 (GRCm39) |
I179L |
probably damaging |
Het |
| Triobp |
AGGGACAATCCCAGGGCCTCCTCTCCCAACAGAACTACTCAGCGGGACAA |
AGGGACAA |
15: 78,851,042 (GRCm39) |
|
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,130,412 (GRCm39) |
T173A |
probably damaging |
Het |
| Vmn2r56 |
C |
T |
7: 12,444,259 (GRCm39) |
G458R |
probably damaging |
Het |
| Vmn2r81 |
T |
G |
10: 79,106,570 (GRCm39) |
|
probably null |
Het |
| Wfdc15b |
T |
A |
2: 164,057,037 (GRCm39) |
E80D |
probably benign |
Het |
| Wrn |
A |
T |
8: 33,812,376 (GRCm39) |
D423E |
probably benign |
Het |
| Zfp775 |
T |
A |
6: 48,597,415 (GRCm39) |
C430S |
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 |
|
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'- CATGTTAACTGCTGTTGAGATCC -3'
(R):5'- GCTCTCACAGATCCTTGTGG -3'
Sequencing Primer
(F):5'- TCTAGAACCCTGTGCATGCCAG -3'
(R):5'- ACAGATCCTTGTGGAGTCTCC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation