Incidental Mutation 'R7580:Dglucy'
ID |
586705 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dglucy
|
Ensembl Gene |
ENSMUSG00000021185 |
Gene Name |
D-glutamate cyclase |
Synonyms |
9030617O03Rik |
MMRRC Submission |
045664-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.104)
|
Stock # |
R7580 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
12 |
Chromosomal Location |
100745316-100838869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100816423 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 325
(A325V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000067830
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069782]
[ENSMUST00000110069]
[ENSMUST00000110070]
[ENSMUST00000110073]
[ENSMUST00000167322]
|
AlphaFold |
Q8BH86 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069782
AA Change: A325V
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000067830 Gene: ENSMUSG00000021185 AA Change: A325V
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: A325V
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105696 Gene: ENSMUSG00000021185 AA Change: A325V
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
AA Change: A325V
PolyPhen 2
Score 0.381 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000105697 Gene: ENSMUSG00000021185 AA Change: A325V
Domain | Start | End | E-Value | Type |
Pfam:DUF1445
|
115 |
257 |
2.8e-51 |
PFAM |
Pfam:DUF4392
|
298 |
563 |
2.5e-87 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000110073
AA Change: A355V
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000105700 Gene: ENSMUSG00000021185 AA Change: A355V
Domain | Start | End | E-Value | Type |
Pfam:DUF1445
|
145 |
287 |
7.2e-54 |
PFAM |
Pfam:DUF4392
|
329 |
640 |
2.3e-124 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000167322
AA Change: A325V
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000129876 Gene: ENSMUSG00000021185 AA Change: A325V
Domain | Start | End | E-Value | Type |
Pfam:DUF1445
|
115 |
257 |
1.1e-51 |
PFAM |
Pfam:DUF4392
|
298 |
612 |
4.2e-100 |
PFAM |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (54/54) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
A |
13: 60,993,040 (GRCm39) |
Y213F |
probably damaging |
Het |
Adamdec1 |
A |
G |
14: 68,802,980 (GRCm39) |
S462P |
probably benign |
Het |
Adamtsl1 |
T |
A |
4: 85,972,301 (GRCm39) |
C3S |
possibly damaging |
Het |
Bag1 |
C |
T |
4: 40,947,836 (GRCm39) |
E123K |
probably benign |
Het |
Brip1 |
A |
G |
11: 86,048,427 (GRCm39) |
L305P |
probably damaging |
Het |
Cage1 |
T |
A |
13: 38,206,700 (GRCm39) |
I382F |
possibly damaging |
Het |
Cfap52 |
T |
A |
11: 67,837,146 (GRCm39) |
K205I |
probably damaging |
Het |
Cmtr2 |
T |
A |
8: 110,948,309 (GRCm39) |
N206K |
probably damaging |
Het |
Defb34 |
G |
A |
8: 19,176,426 (GRCm39) |
C39Y |
possibly damaging |
Het |
Dennd3 |
T |
C |
15: 73,428,296 (GRCm39) |
S881P |
possibly damaging |
Het |
Dnah8 |
A |
G |
17: 30,994,077 (GRCm39) |
E3398G |
probably damaging |
Het |
Dsc2 |
A |
T |
18: 20,183,130 (GRCm39) |
I96K |
probably damaging |
Het |
Endov |
C |
T |
11: 119,390,692 (GRCm39) |
|
probably benign |
Het |
Fer1l6 |
A |
T |
15: 58,430,245 (GRCm39) |
Q224L |
probably benign |
Het |
Fmo2 |
T |
C |
1: 162,704,613 (GRCm39) |
N431S |
possibly damaging |
Het |
Gata3 |
A |
C |
2: 9,867,943 (GRCm39) |
V337G |
probably damaging |
Het |
Gtse1 |
G |
A |
15: 85,746,432 (GRCm39) |
V83M |
probably damaging |
Het |
Hgd |
C |
A |
16: 37,439,241 (GRCm39) |
P224H |
possibly damaging |
Het |
Kcnh6 |
T |
C |
11: 105,908,374 (GRCm39) |
V330A |
probably damaging |
Het |
Kiz |
C |
G |
2: 146,798,169 (GRCm39) |
I631M |
probably damaging |
Het |
Klhl18 |
T |
C |
9: 110,265,118 (GRCm39) |
D366G |
probably benign |
Het |
Lrmda |
C |
T |
14: 22,069,925 (GRCm39) |
|
probably benign |
Het |
Mc1r |
G |
T |
8: 124,134,906 (GRCm39) |
A220S |
probably damaging |
Het |
Megf6 |
T |
A |
4: 154,355,201 (GRCm39) |
C1505* |
probably null |
Het |
Mmp20 |
C |
T |
9: 7,654,144 (GRCm39) |
R355* |
probably null |
Het |
Mmp28 |
T |
A |
11: 83,335,658 (GRCm39) |
Q280L |
probably damaging |
Het |
Mppe1 |
C |
T |
18: 67,370,488 (GRCm39) |
A70T |
probably damaging |
Het |
Mtif3 |
T |
G |
5: 146,895,757 (GRCm39) |
D110A |
possibly damaging |
Het |
Mtss2 |
G |
A |
8: 111,464,268 (GRCm39) |
R361H |
possibly damaging |
Het |
Mvp |
T |
C |
7: 126,591,483 (GRCm39) |
D542G |
probably damaging |
Het |
Nlrp5 |
T |
C |
7: 23,133,174 (GRCm39) |
C940R |
probably damaging |
Het |
Nmur2 |
C |
T |
11: 55,917,808 (GRCm39) |
V394I |
probably benign |
Het |
Nwd2 |
A |
G |
5: 63,965,624 (GRCm39) |
H1736R |
probably benign |
Het |
Or2n1c |
T |
C |
17: 38,519,934 (GRCm39) |
I266T |
probably benign |
Het |
Pira13 |
A |
T |
7: 3,827,611 (GRCm39) |
F182Y |
unknown |
Het |
Purg |
A |
G |
8: 33,906,661 (GRCm39) |
Y317C |
possibly damaging |
Het |
Ralgapa1 |
T |
A |
12: 55,765,013 (GRCm39) |
M880L |
probably benign |
Het |
Rap1gap |
T |
C |
4: 137,447,293 (GRCm39) |
F413L |
possibly damaging |
Het |
Sart3 |
A |
T |
5: 113,892,440 (GRCm39) |
|
probably null |
Het |
Scaf4 |
G |
A |
16: 90,026,740 (GRCm39) |
Q1026* |
probably null |
Het |
Slc26a1 |
A |
G |
5: 108,819,735 (GRCm39) |
L504P |
probably damaging |
Het |
Slc35d1 |
C |
A |
4: 103,065,330 (GRCm39) |
V184L |
|
Het |
Slc5a11 |
C |
T |
7: 122,864,421 (GRCm39) |
A339V |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,705,028 (GRCm39) |
M1780K |
probably benign |
Het |
Tas1r2 |
G |
A |
4: 139,387,056 (GRCm39) |
D172N |
probably benign |
Het |
Tasor |
A |
G |
14: 27,188,243 (GRCm39) |
I896M |
probably benign |
Het |
Tasor2 |
G |
A |
13: 3,624,752 (GRCm39) |
P1733S |
probably damaging |
Het |
Thoc1 |
A |
T |
18: 9,986,343 (GRCm39) |
K358N |
probably damaging |
Het |
Trim43a |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT |
9: 88,465,042 (GRCm39) |
|
probably benign |
Het |
Ttll8 |
A |
C |
15: 88,818,132 (GRCm39) |
L181R |
probably damaging |
Het |
Ubl4b |
G |
A |
3: 107,461,784 (GRCm39) |
Q159* |
probably null |
Het |
Xrn1 |
A |
G |
9: 95,893,732 (GRCm39) |
H967R |
not run |
Het |
Zeb2 |
T |
C |
2: 44,884,544 (GRCm39) |
D1049G |
probably damaging |
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 |
IGL02240:Dglucy
|
APN |
12 |
100,837,672 (GRCm39) |
missense |
possibly damaging |
0.51 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACCAGTCTTGTGGCTAAGAGAG -3'
(R):5'- AAGTTCAAGGCTCTCTGGTC -3'
Sequencing Primer
(F):5'- GAATGCATATGAACAGGTCAGACTGC -3'
(R):5'- AAGTTCAAGGCTCTCTGGTCTACTAC -3'
|
Posted On |
2019-10-24 |