Incidental Mutation 'IGL02550:Dmgdh'
| ID |
298050 |
| 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 # |
IGL02550
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
93810944-93889331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93854083 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 678
(Y678H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048001]
|
| AlphaFold |
Q9DBT9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048001
AA Change: Y678H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: Y678H
| 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: ENSMUST00000148316
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadl |
A |
G |
1: 66,884,325 (GRCm39) |
|
probably null |
Het |
| Acer3 |
G |
A |
7: 97,873,185 (GRCm39) |
T171I |
probably benign |
Het |
| Acsm2 |
C |
T |
7: 119,172,507 (GRCm39) |
P117S |
probably damaging |
Het |
| Anxa2 |
A |
G |
9: 69,374,588 (GRCm39) |
S22G |
probably benign |
Het |
| Arrb2 |
T |
C |
11: 70,327,696 (GRCm39) |
I120T |
probably damaging |
Het |
| Atp11a |
G |
T |
8: 12,866,997 (GRCm39) |
K141N |
possibly damaging |
Het |
| Casd1 |
T |
C |
6: 4,642,009 (GRCm39) |
V762A |
probably benign |
Het |
| Ccdc61 |
A |
T |
7: 18,627,227 (GRCm39) |
S48T |
probably benign |
Het |
| Cntn2 |
T |
C |
1: 132,456,801 (GRCm39) |
M82V |
probably null |
Het |
| Cobll1 |
A |
G |
2: 64,938,207 (GRCm39) |
S359P |
probably damaging |
Het |
| Ctnnbl1 |
C |
A |
2: 157,726,055 (GRCm39) |
D465E |
probably benign |
Het |
| Def6 |
A |
T |
17: 28,447,235 (GRCm39) |
E622V |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,935,724 (GRCm39) |
M1K |
probably null |
Het |
| Esyt1 |
T |
C |
10: 128,357,962 (GRCm39) |
K216E |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,156,017 (GRCm39) |
D545G |
probably benign |
Het |
| Galnt12 |
A |
T |
4: 47,104,126 (GRCm39) |
D128V |
possibly damaging |
Het |
| Gm1110 |
C |
T |
9: 26,793,130 (GRCm39) |
V549I |
probably benign |
Het |
| Gm7361 |
A |
G |
5: 26,466,120 (GRCm39) |
I161V |
possibly damaging |
Het |
| Gsn |
T |
C |
2: 35,172,619 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
A |
T |
7: 106,200,846 (GRCm39) |
|
noncoding transcript |
Het |
| Il16 |
T |
A |
7: 83,323,704 (GRCm39) |
Q282L |
possibly damaging |
Het |
| Il3ra |
A |
G |
14: 14,348,055 (GRCm38) |
D67G |
probably benign |
Het |
| Insrr |
T |
C |
3: 87,711,805 (GRCm39) |
L515P |
probably damaging |
Het |
| Jhy |
A |
G |
9: 40,828,466 (GRCm39) |
F480S |
probably benign |
Het |
| Klc4 |
C |
A |
17: 46,947,836 (GRCm39) |
|
probably null |
Het |
| Klhl12 |
G |
T |
1: 134,395,443 (GRCm39) |
C135F |
possibly damaging |
Het |
| Ly6m |
T |
G |
15: 74,752,604 (GRCm39) |
H24P |
probably damaging |
Het |
| Mboat7 |
G |
T |
7: 3,686,905 (GRCm39) |
|
probably null |
Het |
| Myo1f |
G |
A |
17: 33,807,116 (GRCm39) |
D522N |
probably damaging |
Het |
| Myo1f |
A |
G |
17: 33,799,124 (GRCm39) |
|
probably benign |
Het |
| Nbea |
C |
A |
3: 55,926,835 (GRCm39) |
M789I |
probably damaging |
Het |
| Ncapd2 |
T |
C |
6: 125,154,410 (GRCm39) |
D602G |
probably benign |
Het |
| Ncaph2 |
A |
T |
15: 89,254,064 (GRCm39) |
K344* |
probably null |
Het |
| Nek2 |
A |
G |
1: 191,554,371 (GRCm39) |
Y70C |
probably damaging |
Het |
| Or2t1 |
T |
C |
14: 14,328,423 (GRCm38) |
L104P |
possibly damaging |
Het |
| Or4k35 |
T |
A |
2: 111,100,349 (GRCm39) |
D121V |
probably damaging |
Het |
| Or4k37 |
T |
C |
2: 111,158,845 (GRCm39) |
L27P |
probably damaging |
Het |
| Or5ak22 |
G |
A |
2: 85,230,166 (GRCm39) |
A237V |
probably damaging |
Het |
| Or7e166 |
C |
A |
9: 19,624,343 (GRCm39) |
F73L |
possibly damaging |
Het |
| Or8g35 |
T |
A |
9: 39,381,842 (GRCm39) |
Y60F |
probably benign |
Het |
| Plcb3 |
T |
A |
19: 6,937,544 (GRCm39) |
K625* |
probably null |
Het |
| Plrg1 |
T |
C |
3: 82,968,430 (GRCm39) |
|
probably null |
Het |
| Ptpn12 |
A |
G |
5: 21,203,137 (GRCm39) |
V547A |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,290,331 (GRCm39) |
D748G |
probably damaging |
Het |
| Rcbtb2 |
A |
G |
14: 73,399,459 (GRCm39) |
E41G |
probably damaging |
Het |
| Rela |
G |
T |
19: 5,691,534 (GRCm39) |
R236L |
possibly damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,604,059 (GRCm39) |
S188P |
probably damaging |
Het |
| Sipa1l1 |
A |
T |
12: 82,487,723 (GRCm39) |
K1666* |
probably null |
Het |
| Slco1a1 |
C |
T |
6: 141,889,191 (GRCm39) |
M40I |
probably benign |
Het |
| Smarca4 |
C |
A |
9: 21,597,418 (GRCm39) |
P1391Q |
probably benign |
Het |
| Stra6 |
A |
G |
9: 58,057,366 (GRCm39) |
N392S |
possibly damaging |
Het |
| Syt4 |
A |
G |
18: 31,577,246 (GRCm39) |
I36T |
probably damaging |
Het |
| Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
| Tmem87a |
T |
A |
2: 120,204,966 (GRCm39) |
|
probably null |
Het |
| Tmf1 |
T |
C |
6: 97,135,522 (GRCm39) |
D918G |
probably benign |
Het |
| Tnfaip2 |
A |
G |
12: 111,412,535 (GRCm39) |
Y312C |
probably damaging |
Het |
| Usp47 |
C |
T |
7: 111,703,561 (GRCm39) |
R1178C |
probably damaging |
Het |
| Vmn2r95 |
T |
A |
17: 18,671,994 (GRCm39) |
I577N |
probably damaging |
Het |
| Vps13b |
T |
C |
15: 35,572,242 (GRCm39) |
V953A |
probably benign |
Het |
| Wasl |
A |
G |
6: 24,633,883 (GRCm39) |
F127S |
probably damaging |
Het |
| Wdr1 |
C |
T |
5: 38,698,206 (GRCm39) |
V192I |
probably damaging |
Het |
| Wnt9a |
C |
T |
11: 59,221,744 (GRCm39) |
T214I |
probably damaging |
Het |
| Xpo5 |
A |
G |
17: 46,540,255 (GRCm39) |
D693G |
probably benign |
Het |
| Zan |
A |
G |
5: 137,385,301 (GRCm39) |
L5044P |
unknown |
Het |
| Zhx3 |
T |
C |
2: 160,623,216 (GRCm39) |
N317S |
probably 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 |
|
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 |
|
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 |
2015-04-16 |
Incidental Mutation