Incidental Mutation 'R1943:Dmgdh'
| ID |
216394 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dmgdh
|
| Ensembl Gene |
ENSMUSG00000042102 |
| Gene Name |
dimethylglycine dehydrogenase precursor |
| Synonyms |
1200014D15Rik |
| MMRRC Submission |
039961-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1943 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
93810944-93889331 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 93847878 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 525
(I525T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000039663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048001]
|
| AlphaFold |
Q9DBT9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048001
AA Change: I525T
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000039663
Gene: ENSMUSG00000042102
AA Change: I525T
| 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: ENSMUST00000148316
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149839
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
A |
G |
6: 121,645,506 (GRCm39) |
N1017S |
possibly damaging |
Het |
| Abca8a |
T |
C |
11: 109,960,689 (GRCm39) |
I610V |
probably benign |
Het |
| Acp5 |
C |
T |
9: 22,040,900 (GRCm39) |
V108M |
probably damaging |
Het |
| Adam23 |
T |
C |
1: 63,516,916 (GRCm39) |
|
probably null |
Het |
| Adam34 |
T |
A |
8: 44,103,864 (GRCm39) |
T594S |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 44,104,852 (GRCm39) |
N264K |
probably damaging |
Het |
| Arsa |
G |
A |
15: 89,357,742 (GRCm39) |
T407I |
probably damaging |
Het |
| Bicc1 |
A |
G |
10: 70,995,353 (GRCm39) |
S32P |
probably damaging |
Het |
| Cacna1i |
T |
A |
15: 80,279,245 (GRCm39) |
D1995E |
probably benign |
Het |
| Cemip2 |
G |
A |
19: 21,825,404 (GRCm39) |
|
probably null |
Het |
| Chst15 |
A |
T |
7: 131,864,579 (GRCm39) |
|
probably null |
Het |
| Cntnap4 |
T |
A |
8: 113,542,128 (GRCm39) |
F754I |
probably benign |
Het |
| Cpz |
C |
T |
5: 35,669,772 (GRCm39) |
E302K |
probably damaging |
Het |
| Daw1 |
A |
T |
1: 83,186,987 (GRCm39) |
I371F |
possibly damaging |
Het |
| Dennd1b |
C |
A |
1: 139,096,690 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
T |
G |
2: 5,937,293 (GRCm39) |
Q73P |
probably benign |
Het |
| Dst |
C |
A |
1: 34,267,450 (GRCm39) |
T4964K |
possibly damaging |
Het |
| Ercc3 |
A |
G |
18: 32,379,663 (GRCm39) |
Y290C |
probably damaging |
Het |
| Fh1 |
C |
T |
1: 175,437,344 (GRCm39) |
V252I |
probably benign |
Het |
| Gm13199 |
C |
T |
2: 5,867,517 (GRCm39) |
|
probably benign |
Het |
| Il1rn |
T |
C |
2: 24,238,611 (GRCm39) |
S82P |
possibly damaging |
Het |
| Lama4 |
T |
C |
10: 38,973,134 (GRCm39) |
V1567A |
possibly damaging |
Het |
| Lamtor4 |
A |
G |
5: 138,254,054 (GRCm39) |
|
probably null |
Het |
| Llgl1 |
A |
G |
11: 60,596,842 (GRCm39) |
N148D |
probably benign |
Het |
| Lmo7 |
G |
T |
14: 102,139,738 (GRCm39) |
G774V |
probably damaging |
Het |
| Luzp2 |
A |
T |
7: 54,914,050 (GRCm39) |
K293M |
possibly damaging |
Het |
| Mknk1 |
T |
C |
4: 115,720,223 (GRCm39) |
V83A |
probably damaging |
Het |
| Mug2 |
T |
C |
6: 122,056,598 (GRCm39) |
V1181A |
probably benign |
Het |
| Myo16 |
G |
A |
8: 10,644,905 (GRCm39) |
D1746N |
possibly damaging |
Het |
| Or1ad8 |
A |
G |
11: 50,898,502 (GRCm39) |
I234M |
probably benign |
Het |
| Or2aj4 |
A |
T |
16: 19,385,187 (GRCm39) |
W149R |
probably benign |
Het |
| Osbpl3 |
A |
G |
6: 50,297,054 (GRCm39) |
I548T |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,656,499 (GRCm39) |
Y1676H |
probably damaging |
Het |
| Phtf1 |
A |
T |
3: 103,901,198 (GRCm39) |
K416* |
probably null |
Het |
| Pmp2 |
T |
C |
3: 10,247,570 (GRCm39) |
T40A |
probably benign |
Het |
| Ptpra |
T |
C |
2: 130,386,024 (GRCm39) |
M541T |
probably damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,548,089 (GRCm39) |
I753V |
possibly damaging |
Het |
| Rdh14 |
T |
C |
12: 10,441,162 (GRCm39) |
V108A |
probably benign |
Het |
| Rnf38 |
A |
T |
4: 44,138,748 (GRCm39) |
H248Q |
probably damaging |
Het |
| Rsph6a |
A |
C |
7: 18,808,001 (GRCm39) |
Y388S |
probably damaging |
Het |
| Ryr2 |
T |
C |
13: 11,746,609 (GRCm39) |
D1981G |
probably benign |
Het |
| Sf3a3 |
A |
G |
4: 124,609,694 (GRCm39) |
K97E |
possibly damaging |
Het |
| Shisa9 |
A |
G |
16: 12,085,620 (GRCm39) |
T394A |
probably benign |
Het |
| Slc43a2 |
T |
A |
11: 75,436,567 (GRCm39) |
|
probably null |
Het |
| Slc45a1 |
A |
G |
4: 150,728,734 (GRCm39) |
F23S |
probably benign |
Het |
| Slc7a10 |
T |
A |
7: 34,899,723 (GRCm39) |
V435E |
probably benign |
Het |
| Snx15 |
A |
G |
19: 6,178,096 (GRCm39) |
Y28H |
probably damaging |
Het |
| Spef2 |
T |
G |
15: 9,663,280 (GRCm39) |
K834Q |
possibly damaging |
Het |
| Tdpoz2 |
G |
T |
3: 93,559,230 (GRCm39) |
Y247* |
probably null |
Het |
| Tedc2 |
G |
A |
17: 24,436,923 (GRCm39) |
R271W |
possibly damaging |
Het |
| Tfr2 |
C |
A |
5: 137,577,183 (GRCm39) |
H378Q |
probably benign |
Het |
| Tigit |
T |
A |
16: 43,469,581 (GRCm39) |
H170L |
probably benign |
Het |
| Tmem62 |
A |
T |
2: 120,817,107 (GRCm39) |
Q91L |
probably benign |
Het |
| Tmtc1 |
G |
T |
6: 148,327,416 (GRCm39) |
C32* |
probably null |
Het |
| Txndc12 |
G |
A |
4: 108,713,407 (GRCm39) |
V90I |
probably benign |
Het |
| Vmn2r93 |
C |
A |
17: 18,546,063 (GRCm39) |
T645K |
probably benign |
Het |
| Vmn2r96 |
C |
T |
17: 18,806,664 (GRCm39) |
T345I |
probably benign |
Het |
| Vps13d |
A |
T |
4: 144,882,427 (GRCm39) |
D1055E |
probably benign |
Het |
| Xirp2 |
A |
G |
2: 67,342,959 (GRCm39) |
I1733M |
probably benign |
Het |
| Zfp512b |
T |
C |
2: 181,230,208 (GRCm39) |
H516R |
probably damaging |
Het |
| Zfp606 |
T |
C |
7: 12,227,615 (GRCm39) |
S521P |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,949,054 (GRCm39) |
V302E |
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 |
|
|
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'- AGAACAGATTTGAGGGTGCC -3'
(R):5'- TTGAAGCATTTTGGCATCCAG -3'
Sequencing Primer
(F):5'- CCCAGCTCCAGAAGGCTTTC -3'
(R):5'- CAGTTGGAATAAGTGGAGCCAAAG -3'
|
| Posted On |
2014-08-01 |
Incidental Mutation