Incidental Mutation 'IGL01885:Dglucy'
ID |
179118 |
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 # |
IGL01885
|
Quality Score |
|
Status
|
|
Chromosome |
12 |
Chromosomal Location |
100745316-100838869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100816540 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Tyrosine
at position 394
(F394Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069782]
[ENSMUST00000110069]
[ENSMUST00000110070]
[ENSMUST00000110073]
[ENSMUST00000167322]
|
AlphaFold |
Q8BH86 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069782
AA Change: F364Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000067830 Gene: ENSMUSG00000021185 AA Change: F364Y
Domain | Start | End | E-Value | Type |
Pfam:DUF1445
|
115 |
257 |
1.1e-51 |
PFAM |
Pfam:DUF4392
|
298 |
612 |
4.2e-100 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110069
AA Change: F364Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105696 Gene: ENSMUSG00000021185 AA Change: F364Y
Domain | Start | End | E-Value | Type |
Pfam:DUF1445
|
115 |
257 |
1.1e-51 |
PFAM |
Pfam:DUF4392
|
298 |
612 |
4.2e-100 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110070
AA Change: F364Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105697 Gene: ENSMUSG00000021185 AA Change: F364Y
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: F394Y
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105700 Gene: ENSMUSG00000021185 AA Change: F394Y
Domain | Start | End | E-Value | Type |
Pfam:DUF1445
|
145 |
287 |
7.2e-54 |
PFAM |
Pfam:DUF4392
|
329 |
640 |
2.3e-124 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167322
AA Change: F364Y
PolyPhen 2
Score 0.926 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000129876 Gene: ENSMUSG00000021185 AA Change: F364Y
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aars1 |
T |
C |
8: 111,774,575 (GRCm39) |
V568A |
possibly damaging |
Het |
Abcb11 |
T |
A |
2: 69,117,971 (GRCm39) |
Q469L |
probably damaging |
Het |
Ahsg |
G |
A |
16: 22,717,731 (GRCm39) |
G264E |
probably damaging |
Het |
Ankar |
T |
C |
1: 72,697,862 (GRCm39) |
Y788C |
probably damaging |
Het |
Birc6 |
T |
A |
17: 74,911,511 (GRCm39) |
F1508I |
possibly damaging |
Het |
Cd6 |
C |
A |
19: 10,776,601 (GRCm39) |
Q141H |
probably benign |
Het |
Cercam |
A |
C |
2: 29,771,015 (GRCm39) |
T471P |
probably damaging |
Het |
Cux1 |
T |
C |
5: 136,337,301 (GRCm39) |
D729G |
possibly damaging |
Het |
E130308A19Rik |
A |
G |
4: 59,720,004 (GRCm39) |
N512S |
probably benign |
Het |
Ephb4 |
T |
C |
5: 137,356,059 (GRCm39) |
C223R |
probably damaging |
Het |
Gcn1 |
T |
A |
5: 115,714,174 (GRCm39) |
|
probably null |
Het |
Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
Hirip3 |
T |
A |
7: 126,463,381 (GRCm39) |
S446T |
probably benign |
Het |
Hoxa5 |
A |
T |
6: 52,179,647 (GRCm39) |
F243I |
probably damaging |
Het |
Iars1 |
T |
C |
13: 49,844,975 (GRCm39) |
V162A |
probably benign |
Het |
Lama2 |
G |
A |
10: 26,981,135 (GRCm39) |
R1840* |
probably null |
Het |
Lbp |
T |
A |
2: 158,166,493 (GRCm39) |
L349Q |
probably damaging |
Het |
Lrp4 |
T |
C |
2: 91,331,452 (GRCm39) |
I1604T |
probably benign |
Het |
Mapk10 |
T |
C |
5: 103,144,455 (GRCm39) |
K121E |
probably damaging |
Het |
Nav3 |
T |
A |
10: 109,578,521 (GRCm39) |
R1579* |
probably null |
Het |
Obscn |
T |
C |
11: 58,965,794 (GRCm39) |
D652G |
possibly damaging |
Het |
Or10x1 |
A |
G |
1: 174,196,967 (GRCm39) |
I161M |
probably damaging |
Het |
Or5b117 |
G |
A |
19: 13,431,449 (GRCm39) |
T144I |
probably benign |
Het |
Or7g30 |
A |
G |
9: 19,352,760 (GRCm39) |
I184V |
probably benign |
Het |
Ostm1 |
C |
T |
10: 42,574,147 (GRCm39) |
S280L |
possibly damaging |
Het |
Peak1 |
C |
T |
9: 56,167,388 (GRCm39) |
R180K |
probably damaging |
Het |
Plcz1 |
T |
C |
6: 139,947,837 (GRCm39) |
Y515C |
probably benign |
Het |
Postn |
T |
C |
3: 54,283,455 (GRCm39) |
|
probably benign |
Het |
Ptchd4 |
C |
T |
17: 42,814,493 (GRCm39) |
T798I |
probably damaging |
Het |
Rnf41 |
A |
T |
10: 128,271,344 (GRCm39) |
N85Y |
probably damaging |
Het |
Shisa7 |
A |
T |
7: 4,833,825 (GRCm39) |
H323Q |
probably damaging |
Het |
Slco2a1 |
T |
A |
9: 102,951,629 (GRCm39) |
M386K |
probably damaging |
Het |
St18 |
G |
A |
1: 6,914,596 (GRCm39) |
|
probably null |
Het |
Stra6 |
T |
A |
9: 58,048,431 (GRCm39) |
L175M |
probably damaging |
Het |
Tmem67 |
A |
G |
4: 12,057,389 (GRCm39) |
L600P |
probably damaging |
Het |
Try5 |
G |
T |
6: 41,288,672 (GRCm39) |
N182K |
possibly damaging |
Het |
Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
Xpo7 |
G |
A |
14: 70,903,475 (GRCm39) |
T1078I |
probably benign |
Het |
Zan |
G |
A |
5: 137,462,386 (GRCm39) |
T931I |
unknown |
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 |
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 |
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 |
2014-05-07 |