Incidental Mutation 'IGL03293:Dmgdh'
| ID |
415972 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dmgdh
|
| Ensembl Gene |
ENSMUSG00000042102 |
| Gene Name |
dimethylglycine dehydrogenase precursor |
| Synonyms |
1200014D15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03293
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93810944-93889331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 93843209 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 348
(M348I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048001]
|
| AlphaFold |
Q9DBT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048001
AA Change: M348I
PolyPhen 2
Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: M348I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126196
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149839
|
| Coding Region Coverage |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A830018L16Rik |
T |
A |
1: 11,615,375 (GRCm39) |
|
probably null |
Het |
| Akr1c14 |
C |
T |
13: 4,129,130 (GRCm39) |
R45* |
probably null |
Het |
| Ccdc62 |
T |
A |
5: 124,089,288 (GRCm39) |
L309I |
possibly damaging |
Het |
| Ccdc66 |
T |
A |
14: 27,212,628 (GRCm39) |
N565I |
probably damaging |
Het |
| Cerkl |
G |
T |
2: 79,172,719 (GRCm39) |
A318E |
probably damaging |
Het |
| Clec4n |
A |
T |
6: 123,209,105 (GRCm39) |
T57S |
probably benign |
Het |
| Cluh |
A |
G |
11: 74,556,578 (GRCm39) |
E921G |
probably benign |
Het |
| Cnbd1 |
C |
T |
4: 18,860,565 (GRCm39) |
E394K |
possibly damaging |
Het |
| Dnajc13 |
G |
A |
9: 104,051,625 (GRCm39) |
S1744L |
possibly damaging |
Het |
| Dspp |
A |
T |
5: 104,325,427 (GRCm39) |
S597C |
unknown |
Het |
| Dync1h1 |
A |
T |
12: 110,595,168 (GRCm39) |
N1360I |
probably benign |
Het |
| Eepd1 |
A |
G |
9: 25,514,708 (GRCm39) |
H505R |
possibly damaging |
Het |
| Entr1 |
A |
T |
2: 26,277,688 (GRCm39) |
|
probably benign |
Het |
| Gcnt7 |
T |
C |
2: 172,296,303 (GRCm39) |
T174A |
possibly damaging |
Het |
| Gnb1 |
T |
C |
4: 155,625,004 (GRCm39) |
|
probably benign |
Het |
| Gpam |
A |
G |
19: 55,059,448 (GRCm39) |
S800P |
probably benign |
Het |
| Gsr |
T |
C |
8: 34,185,024 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,804,878 (GRCm39) |
K2302R |
probably benign |
Het |
| Hipk1 |
C |
A |
3: 103,684,575 (GRCm39) |
A347S |
possibly damaging |
Het |
| Iqgap2 |
T |
C |
13: 95,867,942 (GRCm39) |
N222S |
probably damaging |
Het |
| Marco |
T |
A |
1: 120,422,524 (GRCm39) |
M46L |
probably benign |
Het |
| Morc2b |
A |
T |
17: 33,357,337 (GRCm39) |
V145D |
probably damaging |
Het |
| Mprip |
C |
A |
11: 59,586,989 (GRCm39) |
P54Q |
probably damaging |
Het |
| Ndufv2 |
A |
T |
17: 66,390,444 (GRCm39) |
C175* |
probably null |
Het |
| Or13c25 |
A |
G |
4: 52,910,835 (GRCm39) |
*320Q |
probably null |
Het |
| Or4p20 |
T |
C |
2: 88,253,571 (GRCm39) |
D266G |
probably damaging |
Het |
| Orc3 |
A |
C |
4: 34,595,210 (GRCm39) |
I195S |
probably damaging |
Het |
| Otos |
C |
A |
1: 92,572,135 (GRCm39) |
E64* |
probably null |
Het |
| Plxna2 |
T |
C |
1: 194,487,253 (GRCm39) |
S1603P |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,005,527 (GRCm39) |
I1151N |
probably benign |
Het |
| Scaper |
A |
G |
9: 55,782,107 (GRCm39) |
V283A |
probably benign |
Het |
| Slc25a43 |
A |
G |
X: 36,039,252 (GRCm39) |
T270A |
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,964,144 (GRCm39) |
V78A |
probably damaging |
Het |
| Smurf1 |
A |
T |
5: 144,818,609 (GRCm39) |
D636E |
probably benign |
Het |
| Tchhl1 |
A |
T |
3: 93,377,582 (GRCm39) |
E95D |
probably damaging |
Het |
| Tcp10a |
A |
G |
17: 7,593,891 (GRCm39) |
E72G |
possibly damaging |
Het |
| Tmem232 |
A |
G |
17: 65,757,369 (GRCm39) |
S275P |
probably damaging |
Het |
| Ugt1a5 |
T |
C |
1: 88,094,540 (GRCm39) |
F256S |
probably damaging |
Het |
| Ulbp3 |
A |
G |
10: 3,075,699 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn2r5 |
A |
G |
3: 64,398,747 (GRCm39) |
V744A |
probably benign |
Het |
| Vmn2r53 |
A |
T |
7: 12,332,349 (GRCm39) |
S433R |
probably benign |
Het |
| Vmn2r9 |
A |
T |
5: 108,995,997 (GRCm39) |
I217N |
probably damaging |
Het |
| Wdr83 |
G |
T |
8: 85,807,216 (GRCm39) |
A10E |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation