Incidental Mutation 'R3117:Dglucy'
ID |
263105 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Dglucy
|
Ensembl Gene |
ENSMUSG00000021185 |
Gene Name |
D-glutamate cyclase |
Synonyms |
9030617O03Rik |
MMRRC Submission |
040590-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.117)
|
Stock # |
R3117 (G1)
|
Quality Score |
169 |
Status
|
Not validated
|
Chromosome |
12 |
Chromosomal Location |
100745316-100838869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100804937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 143
(S143G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129876
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069782]
[ENSMUST00000110069]
[ENSMUST00000110070]
[ENSMUST00000110073]
[ENSMUST00000154603]
[ENSMUST00000167322]
|
AlphaFold |
Q8BH86 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000069782
AA Change: S143G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000067830 Gene: ENSMUSG00000021185 AA Change: S143G
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: S143G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105696 Gene: ENSMUSG00000021185 AA Change: S143G
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: S143G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105697 Gene: ENSMUSG00000021185 AA Change: S143G
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: S173G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000105700 Gene: ENSMUSG00000021185 AA Change: S173G
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 benign
Transcript: ENSMUST00000167322
AA Change: S143G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000129876 Gene: ENSMUSG00000021185 AA Change: S143G
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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
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: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AW551984 |
T |
C |
9: 39,504,656 (GRCm39) |
T532A |
probably benign |
Het |
Dlec1 |
G |
A |
9: 118,972,971 (GRCm39) |
|
probably null |
Het |
Fcho2 |
A |
C |
13: 98,913,946 (GRCm39) |
I217S |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,327,095 (GRCm39) |
S42P |
probably benign |
Het |
Fras1 |
G |
A |
5: 96,919,571 (GRCm39) |
A3595T |
probably damaging |
Het |
Hacd3 |
G |
T |
9: 64,905,591 (GRCm39) |
D182E |
probably damaging |
Het |
Hsfy2 |
C |
G |
1: 56,676,265 (GRCm39) |
D91H |
probably damaging |
Het |
Man1a |
T |
A |
10: 53,906,890 (GRCm39) |
M295L |
probably damaging |
Het |
Mkrn3 |
CGGCATTGGCACTGGCATTGGCACTGGCATTGGCA |
CGGCATTGGCACTGGCATTGGCA |
7: 62,068,962 (GRCm39) |
|
probably benign |
Het |
Mlc1 |
T |
C |
15: 88,860,731 (GRCm39) |
D93G |
probably damaging |
Het |
Myo5c |
G |
A |
9: 75,173,476 (GRCm39) |
|
probably null |
Het |
Nlrc4 |
T |
C |
17: 74,743,063 (GRCm39) |
I852V |
probably benign |
Het |
Notch3 |
C |
T |
17: 32,377,089 (GRCm39) |
C272Y |
probably damaging |
Het |
Or7g35 |
A |
T |
9: 19,496,237 (GRCm39) |
I135F |
probably damaging |
Het |
Ovgp1 |
T |
C |
3: 105,893,768 (GRCm39) |
|
probably benign |
Het |
Pbld2 |
A |
G |
10: 62,890,215 (GRCm39) |
T208A |
probably benign |
Het |
Prpf39 |
T |
C |
12: 65,104,651 (GRCm39) |
V572A |
possibly damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Ttc3 |
G |
A |
16: 94,243,422 (GRCm39) |
R1142Q |
possibly damaging |
Het |
Ttc41 |
T |
C |
10: 86,560,184 (GRCm39) |
M369T |
possibly damaging |
Het |
Vwa3b |
G |
A |
1: 37,148,158 (GRCm39) |
V437I |
possibly 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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GACCATCTGTCCACAGTTGC -3'
(R):5'- ACTTTGATTGACATTGCACAGCC -3'
Sequencing Primer
(F):5'- GTTGCAGAAATACAAGTTTGGCACC -3'
(R):5'- TTGCACAGCCATATCAGAGG -3'
|
Posted On |
2015-02-05 |