Incidental Mutation 'R3716:Dglucy'
| ID |
259930 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R3716 (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 T
at 100816375 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 339
(N339I)
|
| 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: N309I
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067830
Gene: ENSMUSG00000021185
AA Change: N309I
| 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: N309I
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105696
Gene: ENSMUSG00000021185
AA Change: N309I
| 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: N309I
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105697
Gene: ENSMUSG00000021185
AA Change: N309I
| 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: N339I
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105700
Gene: ENSMUSG00000021185
AA Change: N339I
| 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: N309I
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129876
Gene: ENSMUSG00000021185
AA Change: N309I
| 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 |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik2 |
A |
T |
11: 48,910,363 (GRCm39) |
L690H |
probably damaging |
Het |
| Abtb3 |
C |
T |
10: 85,397,392 (GRCm39) |
H442Y |
probably damaging |
Het |
| Acaa1b |
A |
G |
9: 118,985,709 (GRCm39) |
V72A |
probably benign |
Het |
| Actl7a |
T |
C |
4: 56,744,295 (GRCm39) |
L274P |
possibly damaging |
Het |
| Ankrd50 |
T |
C |
3: 38,508,299 (GRCm39) |
E433G |
probably damaging |
Het |
| Ano6 |
A |
G |
15: 95,811,260 (GRCm39) |
D120G |
probably damaging |
Het |
| Bbs10 |
A |
G |
10: 111,136,995 (GRCm39) |
K703E |
probably benign |
Het |
| Canx |
A |
G |
11: 50,195,301 (GRCm39) |
S256P |
probably benign |
Het |
| Caps2 |
A |
G |
10: 112,036,637 (GRCm39) |
H399R |
probably benign |
Het |
| Col6a6 |
A |
C |
9: 105,659,373 (GRCm39) |
L524R |
probably damaging |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dhrs4 |
G |
T |
14: 55,716,362 (GRCm39) |
M1I |
probably null |
Het |
| Disp1 |
A |
T |
1: 182,869,315 (GRCm39) |
L1035Q |
probably damaging |
Het |
| Ephb1 |
T |
C |
9: 102,071,999 (GRCm39) |
E260G |
probably damaging |
Het |
| Fetub |
T |
A |
16: 22,754,443 (GRCm39) |
C217S |
probably damaging |
Het |
| Firrm |
T |
C |
1: 163,784,457 (GRCm39) |
I779M |
probably damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,781 (GRCm39) |
S1971G |
probably damaging |
Het |
| Gria2 |
A |
G |
3: 80,648,311 (GRCm39) |
Y142H |
possibly damaging |
Het |
| Hivep1 |
C |
T |
13: 42,311,971 (GRCm39) |
H1404Y |
probably damaging |
Het |
| Il21r |
A |
G |
7: 125,231,441 (GRCm39) |
K290E |
probably damaging |
Het |
| Inpp5f |
C |
G |
7: 128,292,394 (GRCm39) |
L17V |
probably damaging |
Het |
| Kcnh3 |
A |
G |
15: 99,130,646 (GRCm39) |
N421S |
possibly damaging |
Het |
| Krt33a |
A |
C |
11: 99,904,991 (GRCm39) |
C172G |
probably benign |
Het |
| Lrp6 |
A |
T |
6: 134,484,410 (GRCm39) |
H404Q |
probably damaging |
Het |
| Macf1 |
T |
C |
4: 123,367,295 (GRCm39) |
T924A |
probably benign |
Het |
| Mepe |
C |
A |
5: 104,485,294 (GRCm39) |
H145N |
probably benign |
Het |
| Mesp2 |
T |
G |
7: 79,462,542 (GRCm39) |
L366R |
possibly damaging |
Het |
| Mink1 |
T |
A |
11: 70,498,587 (GRCm39) |
L584Q |
probably damaging |
Het |
| Mms19 |
A |
G |
19: 41,933,174 (GRCm39) |
V997A |
probably damaging |
Het |
| Mroh7 |
T |
C |
4: 106,561,407 (GRCm39) |
E612G |
probably benign |
Het |
| Myo15b |
G |
T |
11: 115,754,239 (GRCm39) |
C913F |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,378,368 (GRCm39) |
I1653K |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,167,482 (GRCm39) |
E1948G |
probably damaging |
Het |
| Nelfcd |
T |
C |
2: 174,264,798 (GRCm39) |
V179A |
possibly damaging |
Het |
| Obscn |
C |
T |
11: 58,973,487 (GRCm39) |
C2157Y |
probably damaging |
Het |
| Or8i2 |
A |
T |
2: 86,852,707 (GRCm39) |
Y60* |
probably null |
Het |
| Orc1 |
C |
T |
4: 108,471,656 (GRCm39) |
A836V |
probably damaging |
Het |
| Pcdhb6 |
G |
T |
18: 37,469,259 (GRCm39) |
V43L |
probably benign |
Het |
| Prkcd |
G |
T |
14: 30,321,669 (GRCm39) |
D393E |
probably benign |
Het |
| Rb1cc1 |
G |
C |
1: 6,340,914 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
A |
1: 4,419,988 (GRCm39) |
T375S |
probably benign |
Het |
| Slc9c1 |
A |
T |
16: 45,400,582 (GRCm39) |
M731L |
probably benign |
Het |
| Sox21 |
A |
T |
14: 118,472,842 (GRCm39) |
M69K |
probably benign |
Het |
| Spata18 |
A |
T |
5: 73,824,193 (GRCm39) |
|
probably null |
Het |
| Taok1 |
A |
G |
11: 77,432,636 (GRCm39) |
F726L |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,575,558 (GRCm39) |
P25112S |
probably damaging |
Het |
| Ubac1 |
C |
T |
2: 25,904,953 (GRCm39) |
R95H |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,933,389 (GRCm39) |
Y40H |
probably damaging |
Het |
| Usp37 |
A |
T |
1: 74,532,145 (GRCm39) |
S83T |
possibly damaging |
Het |
| Vps13d |
A |
G |
4: 144,802,296 (GRCm39) |
I405T |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AACCAGTCTTGTGGCTAAGAG -3'
(R):5'- AAGTTCAAGGCTCTCTGGTC -3'
Sequencing Primer
(F):5'- CAGTCTTGTGGCTAAGAGAGGGG -3'
(R):5'- TTCCCCAGAGCCTGTAGGAAG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation