Incidental Mutation 'IGL02829:Dglucy'
ID |
361351 |
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: 0.104)
|
Stock # |
IGL02829
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
100745316-100838869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 100837663 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Proline
at position 602
(H602P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129876
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069782]
[ENSMUST00000110069]
[ENSMUST00000110070]
[ENSMUST00000110073]
[ENSMUST00000167322]
|
AlphaFold |
Q8BH86 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000069782
AA Change: H602P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000067830 Gene: ENSMUSG00000021185 AA Change: H602P
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 damaging
Transcript: ENSMUST00000110069
AA Change: H602P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105696 Gene: ENSMUSG00000021185 AA Change: H602P
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 |
probably damaging
Transcript: ENSMUST00000110073
AA Change: H632P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105700 Gene: ENSMUSG00000021185 AA Change: H632P
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: H56P
|
SMART Domains |
Protein: ENSMUSP00000122512 Gene: ENSMUSG00000021185 AA Change: H56P
Domain | Start | End | E-Value | Type |
Pfam:DUF4392
|
4 |
65 |
9.6e-17 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000167322
AA Change: H602P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000129876 Gene: ENSMUSG00000021185 AA Change: H602P
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Bbs9 |
A |
G |
9: 22,490,780 (GRCm39) |
T303A |
probably damaging |
Het |
Bet1 |
T |
A |
6: 4,086,795 (GRCm39) |
M1L |
probably benign |
Het |
Bicc1 |
A |
C |
10: 70,794,710 (GRCm39) |
V149G |
probably damaging |
Het |
Braf |
C |
A |
6: 39,604,662 (GRCm39) |
L655F |
possibly damaging |
Het |
Cd101 |
A |
G |
3: 100,925,881 (GRCm39) |
|
probably benign |
Het |
Cobll1 |
T |
C |
2: 64,956,389 (GRCm39) |
K290E |
probably damaging |
Het |
Col6a5 |
A |
T |
9: 105,811,506 (GRCm39) |
I671K |
unknown |
Het |
D130052B06Rik |
A |
C |
11: 33,573,864 (GRCm39) |
T154P |
probably benign |
Het |
Fbxo34 |
A |
G |
14: 47,767,146 (GRCm39) |
I220V |
probably benign |
Het |
Gm42878 |
A |
G |
5: 121,675,266 (GRCm39) |
V101A |
probably damaging |
Het |
Gsdmc4 |
A |
G |
15: 63,764,497 (GRCm39) |
L381P |
probably benign |
Het |
Ifi208 |
C |
A |
1: 173,510,406 (GRCm39) |
P187H |
probably damaging |
Het |
Lrrc37a |
A |
T |
11: 103,382,000 (GRCm39) |
C2473S |
unknown |
Het |
Miip |
T |
A |
4: 147,947,518 (GRCm39) |
N214I |
probably benign |
Het |
Mrc2 |
A |
G |
11: 105,227,533 (GRCm39) |
T589A |
possibly damaging |
Het |
Mtss1 |
A |
G |
15: 58,930,277 (GRCm39) |
|
probably benign |
Het |
Mypn |
T |
C |
10: 63,028,365 (GRCm39) |
R233G |
probably benign |
Het |
Naip6 |
A |
T |
13: 100,437,273 (GRCm39) |
C417S |
probably benign |
Het |
Or13f5 |
C |
T |
4: 52,826,027 (GRCm39) |
P210L |
probably damaging |
Het |
Or4c111 |
A |
C |
2: 88,844,021 (GRCm39) |
L129W |
probably damaging |
Het |
Or8k37 |
T |
A |
2: 86,469,599 (GRCm39) |
Y151F |
possibly damaging |
Het |
Pcsk1 |
T |
C |
13: 75,274,955 (GRCm39) |
Y515H |
probably damaging |
Het |
Pla2g2e |
T |
A |
4: 138,607,747 (GRCm39) |
Y42* |
probably null |
Het |
Polh |
A |
T |
17: 46,483,828 (GRCm39) |
L479Q |
possibly damaging |
Het |
Prr36 |
T |
A |
8: 4,265,278 (GRCm39) |
R157S |
possibly damaging |
Het |
Reck |
T |
A |
4: 43,891,014 (GRCm39) |
C51S |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,701,236 (GRCm39) |
D1911G |
probably damaging |
Het |
Scgb1b27 |
A |
T |
7: 33,721,173 (GRCm39) |
|
probably null |
Het |
Sema4g |
G |
A |
19: 44,981,188 (GRCm39) |
R47Q |
possibly damaging |
Het |
Serinc1 |
A |
T |
10: 57,400,061 (GRCm39) |
Y158* |
probably null |
Het |
Slc15a2 |
C |
A |
16: 36,577,555 (GRCm39) |
G435C |
possibly damaging |
Het |
Tbc1d17 |
C |
A |
7: 44,498,296 (GRCm39) |
|
probably benign |
Het |
Tenm4 |
C |
T |
7: 96,544,205 (GRCm39) |
Q2074* |
probably null |
Het |
Tns3 |
A |
G |
11: 8,469,564 (GRCm39) |
C244R |
probably damaging |
Het |
Vmn2r2 |
A |
T |
3: 64,026,172 (GRCm39) |
|
probably benign |
Het |
Vmn2r44 |
T |
A |
7: 8,380,879 (GRCm39) |
Q338L |
possibly damaging |
Het |
Wdr70 |
C |
T |
15: 8,006,463 (GRCm39) |
D363N |
possibly damaging |
Het |
Yipf7 |
A |
T |
5: 69,698,434 (GRCm39) |
S24R |
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 |
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 |
|
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 |
2015-12-18 |