Incidental Mutation 'R1746:Dmgdh'
| ID |
194006 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmgdh
|
| Ensembl Gene |
ENSMUSG00000042102 |
| Gene Name |
dimethylglycine dehydrogenase precursor |
| Synonyms |
1200014D15Rik |
| MMRRC Submission |
039778-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1746 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
93810944-93889331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 93888933 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 857
(T857K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048001]
|
| AlphaFold |
Q9DBT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048001
AA Change: T857K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: T857K
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.9%
- 10x: 95.3%
- 20x: 92.6%
|
| Validation Efficiency |
100% (62/62) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
T |
A |
13: 70,927,717 (GRCm39) |
|
probably null |
Het |
| Agrp |
G |
T |
8: 106,293,467 (GRCm39) |
T106K |
probably damaging |
Het |
| Aknad1 |
A |
G |
3: 108,659,099 (GRCm39) |
T38A |
possibly damaging |
Het |
| Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
| Arhgap21 |
T |
C |
2: 20,865,910 (GRCm39) |
E902G |
probably damaging |
Het |
| Atg2b |
A |
G |
12: 105,635,588 (GRCm39) |
S227P |
possibly damaging |
Het |
| Atp2c2 |
C |
T |
8: 120,461,182 (GRCm39) |
|
probably benign |
Het |
| Atxn10 |
T |
C |
15: 85,260,864 (GRCm39) |
V203A |
probably damaging |
Het |
| Chd9 |
A |
C |
8: 91,737,326 (GRCm39) |
E1468D |
probably benign |
Het |
| Cntn5 |
T |
A |
9: 9,831,577 (GRCm39) |
D601V |
probably damaging |
Het |
| Col4a2 |
G |
A |
8: 11,496,020 (GRCm39) |
G1547D |
probably benign |
Het |
| Cul1 |
A |
G |
6: 47,485,179 (GRCm39) |
E270G |
probably damaging |
Het |
| Dclk2 |
C |
T |
3: 86,712,946 (GRCm39) |
R503Q |
possibly damaging |
Het |
| Ednra |
T |
G |
8: 78,398,211 (GRCm39) |
T279P |
probably benign |
Het |
| Erbin |
A |
G |
13: 103,987,339 (GRCm39) |
I407T |
probably damaging |
Het |
| Fggy |
A |
G |
4: 95,814,965 (GRCm39) |
Y440C |
probably damaging |
Het |
| Flrt2 |
A |
T |
12: 95,747,566 (GRCm39) |
N635Y |
possibly damaging |
Het |
| Fnbp1l |
A |
G |
3: 122,350,140 (GRCm39) |
I357T |
probably benign |
Het |
| Gulp1 |
A |
G |
1: 44,793,513 (GRCm39) |
H58R |
possibly damaging |
Het |
| Hid1 |
A |
T |
11: 115,245,464 (GRCm39) |
V446E |
probably damaging |
Het |
| Igfn1 |
A |
G |
1: 135,897,561 (GRCm39) |
S1002P |
possibly damaging |
Het |
| Klri1 |
A |
G |
6: 129,675,118 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
A |
C |
15: 98,762,259 (GRCm39) |
L409R |
probably damaging |
Het |
| Ltn1 |
A |
C |
16: 87,208,669 (GRCm39) |
S810A |
possibly damaging |
Het |
| Mysm1 |
G |
A |
4: 94,836,648 (GRCm39) |
Q721* |
probably null |
Het |
| Nae1 |
A |
G |
8: 105,254,017 (GRCm39) |
V105A |
possibly damaging |
Het |
| Nagpa |
C |
T |
16: 5,021,503 (GRCm39) |
V83M |
probably damaging |
Het |
| Nrg2 |
G |
A |
18: 36,154,975 (GRCm39) |
T503M |
probably damaging |
Het |
| Nrxn3 |
A |
G |
12: 89,221,789 (GRCm39) |
M150V |
possibly damaging |
Het |
| Or5p52 |
C |
A |
7: 107,502,093 (GRCm39) |
H56Q |
probably benign |
Het |
| Or8g28 |
A |
G |
9: 39,169,498 (GRCm39) |
S157P |
probably damaging |
Het |
| Papola |
T |
A |
12: 105,773,468 (GRCm39) |
D162E |
probably benign |
Het |
| Plxnc1 |
T |
C |
10: 94,680,041 (GRCm39) |
|
probably null |
Het |
| Ppp1r16b |
T |
A |
2: 158,588,585 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
A |
10: 107,474,691 (GRCm39) |
E1338V |
probably damaging |
Het |
| Puf60 |
G |
A |
15: 75,942,633 (GRCm39) |
H437Y |
probably benign |
Het |
| Qsox2 |
C |
T |
2: 26,110,650 (GRCm39) |
V189I |
probably benign |
Het |
| Rad51ap2 |
A |
T |
12: 11,507,776 (GRCm39) |
D566V |
probably benign |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,237 (GRCm39) |
|
probably null |
Het |
| Rfpl4b |
C |
T |
10: 38,697,049 (GRCm39) |
C184Y |
possibly damaging |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rundc3a |
GAGCC |
GAGCCAGCC |
11: 102,291,739 (GRCm39) |
|
probably null |
Het |
| Scara5 |
A |
C |
14: 65,968,539 (GRCm39) |
M271L |
probably benign |
Het |
| Sel1l2 |
A |
G |
2: 140,127,157 (GRCm39) |
L118P |
probably damaging |
Het |
| Sema6a |
T |
A |
18: 47,439,416 (GRCm39) |
|
probably benign |
Het |
| Siglech |
T |
A |
7: 55,418,252 (GRCm39) |
H73Q |
probably benign |
Het |
| Sim1 |
A |
G |
10: 50,860,205 (GRCm39) |
D689G |
probably benign |
Het |
| Skp2 |
T |
C |
15: 9,139,530 (GRCm39) |
E55G |
possibly damaging |
Het |
| Slc1a1 |
T |
A |
19: 28,871,869 (GRCm39) |
V114E |
probably benign |
Het |
| Slc26a6 |
G |
A |
9: 108,738,916 (GRCm39) |
G614D |
probably benign |
Het |
| Sptbn2 |
C |
T |
19: 4,795,992 (GRCm39) |
Q1724* |
probably null |
Het |
| Tet3 |
T |
C |
6: 83,345,050 (GRCm39) |
T1796A |
probably damaging |
Het |
| Tmem117 |
A |
C |
15: 94,829,714 (GRCm39) |
D183A |
possibly damaging |
Het |
| Trmt44 |
A |
G |
5: 35,721,403 (GRCm39) |
S587P |
probably benign |
Het |
| Ttn |
G |
T |
2: 76,619,166 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
G |
A |
7: 55,458,285 (GRCm39) |
V399M |
probably benign |
Het |
| Txndc2 |
T |
A |
17: 65,945,130 (GRCm39) |
D349V |
probably damaging |
Het |
| Uggt2 |
T |
A |
14: 119,250,915 (GRCm39) |
N1194I |
probably benign |
Het |
| Vmn1r178 |
A |
T |
7: 23,593,329 (GRCm39) |
I53L |
probably benign |
Het |
| Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCTTATGTCCCAGTCCAGCTCAG -3'
(R):5'- GCAAGTCTGTCCCTGTCATTGCATC -3'
Sequencing Primer
(F):5'- CAGTCCAGCTCAGTGAAGTG -3'
(R):5'- GACTGGGTTTCATAAACGCC -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation