Incidental Mutation 'R5609:Dglucy'
ID |
437985 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dglucy
|
Ensembl Gene |
ENSMUSG00000021185 |
Gene Name |
D-glutamate cyclase |
Synonyms |
9030617O03Rik |
MMRRC Submission |
043158-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R5609 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
100745316-100838869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100753905 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 12
(I12V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105700
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069782]
[ENSMUST00000110069]
[ENSMUST00000110070]
[ENSMUST00000110073]
[ENSMUST00000154603]
[ENSMUST00000167322]
|
AlphaFold |
Q8BH86 |
Predicted Effect |
probably null
Transcript: ENSMUST00000069782
|
SMART Domains |
Protein: ENSMUSP00000067830 Gene: ENSMUSG00000021185
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 null
Transcript: ENSMUST00000110069
|
SMART Domains |
Protein: ENSMUSP00000105696 Gene: ENSMUSG00000021185
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 null
Transcript: ENSMUST00000110073
AA Change: I12V
|
SMART Domains |
Protein: ENSMUSP00000105700 Gene: ENSMUSG00000021185 AA Change: I12V
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: ENSMUST00000154603
|
Predicted Effect |
probably null
Transcript: ENSMUST00000167322
|
SMART Domains |
Protein: ENSMUSP00000129876 Gene: ENSMUSG00000021185
Domain | Start | End | E-Value | Type |
Pfam:DUF1445
|
115 |
257 |
1.1e-51 |
PFAM |
Pfam:DUF4392
|
298 |
612 |
4.2e-100 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
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: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
T |
C |
11: 9,353,874 (GRCm39) |
I3732T |
probably benign |
Het |
Ago1 |
C |
A |
4: 126,354,830 (GRCm39) |
K127N |
possibly damaging |
Het |
Akap8l |
T |
C |
17: 32,557,374 (GRCm39) |
N79S |
probably damaging |
Het |
Ano5 |
T |
C |
7: 51,243,385 (GRCm39) |
L836P |
probably damaging |
Het |
AY358078 |
A |
G |
14: 52,042,065 (GRCm39) |
T147A |
unknown |
Het |
Cabp4 |
T |
C |
19: 4,189,251 (GRCm39) |
D102G |
probably benign |
Het |
Cdc34 |
C |
T |
10: 79,520,655 (GRCm39) |
R61C |
probably damaging |
Het |
Chac1 |
A |
G |
2: 119,181,887 (GRCm39) |
K2E |
unknown |
Het |
Cltc |
C |
T |
11: 86,621,093 (GRCm39) |
V305I |
probably damaging |
Het |
Cog7 |
T |
C |
7: 121,524,683 (GRCm39) |
T704A |
probably benign |
Het |
Cux1 |
A |
G |
5: 136,421,174 (GRCm39) |
V184A |
probably damaging |
Het |
Daglb |
A |
T |
5: 143,464,274 (GRCm39) |
T262S |
probably benign |
Het |
Dnah7a |
A |
G |
1: 53,621,753 (GRCm39) |
V1124A |
probably benign |
Het |
Eef2 |
C |
CN |
10: 81,014,603 (GRCm39) |
|
probably null |
Het |
Eif3k |
C |
A |
7: 28,681,133 (GRCm39) |
A9S |
probably benign |
Het |
Elapor1 |
T |
A |
3: 108,378,731 (GRCm39) |
I408F |
probably damaging |
Het |
Gli3 |
A |
T |
13: 15,723,038 (GRCm39) |
M60L |
possibly damaging |
Het |
Hk1 |
C |
T |
10: 62,178,330 (GRCm39) |
E4K |
probably benign |
Het |
Kmt2b |
C |
A |
7: 30,276,570 (GRCm39) |
V1701L |
probably damaging |
Het |
Lrp1b |
T |
C |
2: 41,231,807 (GRCm39) |
H1107R |
probably damaging |
Het |
Lypd10 |
A |
T |
7: 24,413,711 (GRCm39) |
R242S |
possibly damaging |
Het |
Ncor1 |
A |
G |
11: 62,249,679 (GRCm39) |
|
probably null |
Het |
Or5h23 |
T |
A |
16: 58,906,439 (GRCm39) |
M136L |
possibly damaging |
Het |
Or6c70 |
T |
G |
10: 129,710,607 (GRCm39) |
R6S |
probably benign |
Het |
Plekhg4 |
G |
A |
8: 106,106,134 (GRCm39) |
|
probably null |
Het |
Pmfbp1 |
G |
T |
8: 110,251,739 (GRCm39) |
E327D |
probably damaging |
Het |
Slc22a17 |
G |
A |
14: 55,146,427 (GRCm39) |
P63L |
probably damaging |
Het |
Slc37a1 |
G |
A |
17: 31,556,982 (GRCm39) |
V383M |
possibly damaging |
Het |
Slc9a9 |
T |
A |
9: 94,691,990 (GRCm39) |
Y182N |
probably damaging |
Het |
Slx4ip |
A |
G |
2: 136,842,162 (GRCm39) |
D29G |
probably damaging |
Het |
St3gal5 |
T |
C |
6: 72,130,446 (GRCm39) |
V319A |
possibly damaging |
Het |
Tbc1d10c |
C |
T |
19: 4,239,881 (GRCm39) |
M76I |
possibly damaging |
Het |
Thrb |
C |
A |
14: 18,033,526 (GRCm38) |
H416N |
probably benign |
Het |
Timp2 |
T |
A |
11: 118,210,987 (GRCm39) |
D60V |
probably damaging |
Het |
Ubxn6 |
C |
T |
17: 56,376,745 (GRCm39) |
E216K |
probably benign |
Het |
Unc79 |
T |
C |
12: 103,094,527 (GRCm39) |
M1977T |
probably benign |
Het |
Uri1 |
G |
A |
7: 37,662,954 (GRCm39) |
R347* |
probably null |
Het |
Vmn1r73 |
G |
A |
7: 11,490,591 (GRCm39) |
W136* |
probably null |
Het |
Vmn2r124 |
T |
C |
17: 18,294,102 (GRCm39) |
Y730H |
probably benign |
Het |
Wnk4 |
C |
T |
11: 101,166,462 (GRCm39) |
|
probably benign |
Het |
Zfhx4 |
A |
G |
3: 5,468,679 (GRCm39) |
N2971D |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTTCAAACAGAGCATCACTTGG -3'
(R):5'- TCACCTGACAATGAAGGTGTCTATG -3'
Sequencing Primer
(F):5'- CAGAGCATCACTTGGCTTTAAG -3'
(R):5'- CACAGAAAGTTCTTCCTGGTGGAC -3'
|
Posted On |
2016-10-26 |