Incidental Mutation 'IGL02240:Dglucy'
| ID |
286032 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Dglucy
|
| Ensembl Gene |
ENSMUSG00000021185 |
| Gene Name |
D-glutamate cyclase |
| Synonyms |
9030617O03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
IGL02240
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
100745316-100838869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100837672 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 635
(M635K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105700
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069782]
[ENSMUST00000110069]
[ENSMUST00000110070]
[ENSMUST00000110073]
[ENSMUST00000167322]
|
| AlphaFold |
Q8BH86 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069782
AA Change: M605K
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000067830
Gene: ENSMUSG00000021185
AA Change: M605K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1445
|
115 |
257 |
1.1e-51 |
PFAM |
|
Pfam:DUF4392
|
298 |
612 |
4.2e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110069
AA Change: M605K
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000105696
Gene: ENSMUSG00000021185
AA Change: M605K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1445
|
115 |
257 |
1.1e-51 |
PFAM |
|
Pfam:DUF4392
|
298 |
612 |
4.2e-100 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110070
|
| SMART Domains |
Protein: ENSMUSP00000105697
Gene: ENSMUSG00000021185
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1445
|
115 |
257 |
2.8e-51 |
PFAM |
|
Pfam:DUF4392
|
298 |
563 |
2.5e-87 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110073
AA Change: M635K
PolyPhen 2
Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000105700
Gene: ENSMUSG00000021185
AA Change: M635K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1445
|
145 |
287 |
7.2e-54 |
PFAM |
|
Pfam:DUF4392
|
329 |
640 |
2.3e-124 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000124957
AA Change: M59K
|
| SMART Domains |
Protein: ENSMUSP00000122512
Gene: ENSMUSG00000021185
AA Change: M59K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF4392
|
4 |
65 |
9.6e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000167322
AA Change: M605K
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000129876
Gene: ENSMUSG00000021185
AA Change: M605K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1445
|
115 |
257 |
1.1e-51 |
PFAM |
|
Pfam:DUF4392
|
298 |
612 |
4.2e-100 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000222484
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit elevated D-glutamate levels in the heart. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cand2 |
A |
G |
6: 115,780,623 (GRCm39) |
E1169G |
probably damaging |
Het |
| Cdc34 |
A |
G |
10: 79,523,823 (GRCm39) |
D168G |
possibly damaging |
Het |
| Cwc27 |
A |
T |
13: 104,943,151 (GRCm39) |
F130L |
probably damaging |
Het |
| Eral1 |
G |
A |
11: 77,968,687 (GRCm39) |
R149* |
probably null |
Het |
| Gad1-ps |
A |
G |
10: 99,280,820 (GRCm39) |
|
noncoding transcript |
Het |
| Glis3 |
A |
T |
19: 28,508,925 (GRCm39) |
L353Q |
probably damaging |
Het |
| Gsta2 |
T |
A |
9: 78,238,441 (GRCm39) |
I213F |
probably benign |
Het |
| Ist1 |
A |
T |
8: 110,408,836 (GRCm39) |
|
probably benign |
Het |
| Kif1b |
A |
G |
4: 149,330,871 (GRCm39) |
V549A |
probably damaging |
Het |
| Lrp2 |
C |
T |
2: 69,365,390 (GRCm39) |
R261H |
probably benign |
Het |
| Msh4 |
T |
C |
3: 153,579,311 (GRCm39) |
N512S |
probably damaging |
Het |
| Nlrp2 |
A |
T |
7: 5,330,822 (GRCm39) |
S525T |
probably damaging |
Het |
| Nlrp4a |
G |
T |
7: 26,148,703 (GRCm39) |
K103N |
possibly damaging |
Het |
| Or8b56 |
T |
A |
9: 38,739,602 (GRCm39) |
V205D |
probably benign |
Het |
| Pcdhb10 |
A |
T |
18: 37,545,455 (GRCm39) |
H177L |
possibly damaging |
Het |
| Plcb3 |
A |
T |
19: 6,935,448 (GRCm39) |
|
probably benign |
Het |
| Podxl |
A |
G |
6: 31,501,933 (GRCm39) |
L342P |
probably damaging |
Het |
| Psd4 |
T |
G |
2: 24,286,389 (GRCm39) |
S330A |
probably benign |
Het |
| Sucla2 |
A |
G |
14: 73,828,287 (GRCm39) |
D298G |
probably damaging |
Het |
| Tecr |
T |
C |
8: 84,300,045 (GRCm39) |
D107G |
probably damaging |
Het |
| Vamp4 |
T |
A |
1: 162,405,446 (GRCm39) |
N24K |
possibly damaging |
Het |
| Zfp91 |
A |
G |
19: 12,753,770 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Dglucy |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01483:Dglucy
|
APN |
12 |
100,819,476 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01885:Dglucy
|
APN |
12 |
100,816,540 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01911:Dglucy
|
APN |
12 |
100,804,784 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL02388:Dglucy
|
APN |
12 |
100,823,257 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02653:Dglucy
|
APN |
12 |
100,837,690 (GRCm39) |
missense |
probably benign |
|
|
IGL02829:Dglucy
|
APN |
12 |
100,837,663 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Dglucy
|
UTSW |
12 |
100,804,910 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0096:Dglucy
|
UTSW |
12 |
100,804,910 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0591:Dglucy
|
UTSW |
12 |
100,825,777 (GRCm39) |
splice site |
probably benign |
|
|
R1723:Dglucy
|
UTSW |
12 |
100,808,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1765:Dglucy
|
UTSW |
12 |
100,816,361 (GRCm39) |
splice site |
probably null |
|
|
R1926:Dglucy
|
UTSW |
12 |
100,833,414 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1968:Dglucy
|
UTSW |
12 |
100,825,903 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R2004:Dglucy
|
UTSW |
12 |
100,823,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3117:Dglucy
|
UTSW |
12 |
100,804,937 (GRCm39) |
missense |
probably benign |
|
|
R3716:Dglucy
|
UTSW |
12 |
100,816,375 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3946:Dglucy
|
UTSW |
12 |
100,804,959 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3976:Dglucy
|
UTSW |
12 |
100,807,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4782:Dglucy
|
UTSW |
12 |
100,816,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4784:Dglucy
|
UTSW |
12 |
100,804,923 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4799:Dglucy
|
UTSW |
12 |
100,816,602 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5037:Dglucy
|
UTSW |
12 |
100,801,500 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5468:Dglucy
|
UTSW |
12 |
100,816,594 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5609:Dglucy
|
UTSW |
12 |
100,753,905 (GRCm39) |
missense |
probably null |
|
|
R5994:Dglucy
|
UTSW |
12 |
100,808,959 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6452:Dglucy
|
UTSW |
12 |
100,801,468 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7257:Dglucy
|
UTSW |
12 |
100,808,997 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7488:Dglucy
|
UTSW |
12 |
100,823,310 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7580:Dglucy
|
UTSW |
12 |
100,816,423 (GRCm39) |
missense |
probably benign |
0.29 |
|
R7589:Dglucy
|
UTSW |
12 |
100,807,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8181:Dglucy
|
UTSW |
12 |
100,816,370 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8189:Dglucy
|
UTSW |
12 |
100,804,889 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8383:Dglucy
|
UTSW |
12 |
100,801,588 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8421:Dglucy
|
UTSW |
12 |
100,808,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8719:Dglucy
|
UTSW |
12 |
100,804,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8766:Dglucy
|
UTSW |
12 |
100,837,706 (GRCm39) |
missense |
probably benign |
|
|
R9182:Dglucy
|
UTSW |
12 |
100,811,028 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
X0025:Dglucy
|
UTSW |
12 |
100,804,923 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0061:Dglucy
|
UTSW |
12 |
100,804,857 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1176:Dglucy
|
UTSW |
12 |
100,819,563 (GRCm39) |
missense |
probably benign |
0.16 |
|
| Posted On |
2015-04-16 |
Incidental Mutation