Incidental Mutation 'R0096:Dglucy'
| ID |
64077 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dglucy
|
| Ensembl Gene |
ENSMUSG00000021185 |
| Gene Name |
D-glutamate cyclase |
| Synonyms |
9030617O03Rik |
| MMRRC Submission |
038382-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R0096 (G1)
|
| Quality Score |
108 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100745316-100838869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100804910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 134
(I134F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069782]
[ENSMUST00000110069]
[ENSMUST00000110070]
[ENSMUST00000110073]
[ENSMUST00000154603]
[ENSMUST00000167322]
|
| AlphaFold |
Q8BH86 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000069782
AA Change: I134F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000067830
Gene: ENSMUSG00000021185
AA Change: I134F
| 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: I134F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105696
Gene: ENSMUSG00000021185
AA Change: I134F
| 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: I134F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105697
Gene: ENSMUSG00000021185
AA Change: I134F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1445
|
115 |
257 |
2.8e-51 |
PFAM |
|
Pfam:DUF4392
|
298 |
563 |
2.5e-87 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000110073
AA Change: I164F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000105700
Gene: ENSMUSG00000021185
AA Change: I164F
| 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 |
possibly damaging
Transcript: ENSMUST00000167322
AA Change: I134F
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000129876
Gene: ENSMUSG00000021185
AA Change: I134F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1445
|
115 |
257 |
1.1e-51 |
PFAM |
|
Pfam:DUF4392
|
298 |
612 |
4.2e-100 |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 93.5%
|
| Validation Efficiency |
100% (69/69) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
A |
T |
8: 106,435,563 (GRCm39) |
|
probably null |
Het |
| Adamts3 |
G |
A |
5: 89,849,576 (GRCm39) |
Q615* |
probably null |
Het |
| Adamtsl3 |
T |
A |
7: 82,114,907 (GRCm39) |
|
probably benign |
Het |
| Anks1b |
T |
C |
10: 89,909,924 (GRCm39) |
S48P |
possibly damaging |
Het |
| Aoc1l2 |
A |
C |
6: 48,908,122 (GRCm39) |
Q374P |
probably damaging |
Het |
| Arfip2 |
T |
A |
7: 105,287,437 (GRCm39) |
K94N |
probably damaging |
Het |
| Arhgap42 |
G |
T |
9: 9,009,314 (GRCm39) |
N524K |
probably damaging |
Het |
| Arhgef28 |
T |
G |
13: 98,067,762 (GRCm39) |
T1388P |
probably damaging |
Het |
| Arid4b |
T |
C |
13: 14,303,779 (GRCm39) |
V68A |
probably benign |
Het |
| BC005537 |
T |
C |
13: 24,989,923 (GRCm39) |
F129L |
probably damaging |
Het |
| Capn3 |
A |
T |
2: 120,333,010 (GRCm39) |
H592L |
possibly damaging |
Het |
| Dhh |
T |
A |
15: 98,791,869 (GRCm39) |
M380L |
probably benign |
Het |
| Dnai2 |
A |
C |
11: 114,645,158 (GRCm39) |
D531A |
probably benign |
Het |
| Dthd1 |
A |
T |
5: 63,000,383 (GRCm39) |
R568S |
possibly damaging |
Het |
| Efr3a |
A |
G |
15: 65,727,290 (GRCm39) |
N613S |
probably damaging |
Het |
| Epb41l5 |
T |
A |
1: 119,551,641 (GRCm39) |
|
probably benign |
Het |
| Ermp1 |
A |
G |
19: 29,608,788 (GRCm39) |
Y164H |
possibly damaging |
Het |
| Fam120c |
CCAGCAGCAGCAGCAGCA |
CCAGCAGCAGCAGCA |
X: 150,127,341 (GRCm39) |
|
probably benign |
Het |
| Fbrs |
C |
T |
7: 127,088,659 (GRCm39) |
A145V |
probably damaging |
Het |
| Gm4736 |
T |
C |
6: 132,092,569 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9873 |
A |
T |
2: 168,863,029 (GRCm39) |
|
noncoding transcript |
Het |
| Grik1 |
T |
C |
16: 87,831,114 (GRCm39) |
M219V |
possibly damaging |
Het |
| Gtsf1l |
C |
T |
2: 162,929,456 (GRCm39) |
C9Y |
probably damaging |
Het |
| Itih5 |
G |
A |
2: 10,256,189 (GRCm39) |
R885Q |
probably benign |
Het |
| Kdm4c |
A |
G |
4: 74,275,580 (GRCm39) |
E752G |
probably damaging |
Het |
| Ksr1 |
A |
G |
11: 78,929,073 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,112,408 (GRCm39) |
F2283I |
probably benign |
Het |
| Luc7l3 |
A |
G |
11: 94,192,320 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
A |
T |
11: 58,277,583 (GRCm39) |
M122L |
probably benign |
Het |
| Map1a |
A |
G |
2: 121,131,986 (GRCm39) |
E696G |
probably damaging |
Het |
| Mrps34 |
A |
G |
17: 25,114,643 (GRCm39) |
D110G |
probably damaging |
Het |
| Myh11 |
T |
A |
16: 14,022,231 (GRCm39) |
K1710M |
possibly damaging |
Het |
| Myo1d |
A |
G |
11: 80,375,158 (GRCm39) |
L972P |
probably damaging |
Het |
| Nos1ap |
T |
C |
1: 170,156,816 (GRCm39) |
D214G |
probably damaging |
Het |
| Or4c119 |
A |
T |
2: 88,986,640 (GRCm39) |
M293K |
probably benign |
Het |
| Or8b46 |
A |
T |
9: 38,450,832 (GRCm39) |
I214F |
probably damaging |
Het |
| Pate4 |
T |
G |
9: 35,523,130 (GRCm39) |
T5P |
probably damaging |
Het |
| Pygl |
A |
T |
12: 70,237,940 (GRCm39) |
|
probably benign |
Het |
| Samd4 |
A |
T |
14: 47,301,754 (GRCm39) |
M252L |
possibly damaging |
Het |
| Serpinb1c |
T |
A |
13: 33,070,266 (GRCm39) |
|
probably benign |
Het |
| Sis |
A |
T |
3: 72,835,600 (GRCm39) |
W921R |
probably damaging |
Het |
| Skint5 |
A |
T |
4: 113,454,965 (GRCm39) |
|
probably benign |
Het |
| Slc27a6 |
T |
C |
18: 58,731,829 (GRCm39) |
|
probably benign |
Het |
| Sycp2 |
G |
T |
2: 178,045,528 (GRCm39) |
Q31K |
probably damaging |
Het |
| Taar7f |
A |
G |
10: 23,926,152 (GRCm39) |
M249V |
probably benign |
Het |
| Tarm1 |
T |
C |
7: 3,546,067 (GRCm39) |
T79A |
probably benign |
Het |
| Tektl1 |
T |
A |
10: 78,584,539 (GRCm39) |
I328L |
probably benign |
Het |
| Trf |
A |
G |
9: 103,099,358 (GRCm39) |
F300L |
probably damaging |
Het |
| Vmn1r69 |
T |
A |
7: 10,313,985 (GRCm39) |
I170F |
probably damaging |
Het |
| Vmn2r105 |
A |
G |
17: 20,447,741 (GRCm39) |
F361S |
possibly damaging |
Het |
| Vmn2r79 |
A |
G |
7: 86,686,527 (GRCm39) |
Y636C |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,231,005 (GRCm39) |
N68D |
probably damaging |
Het |
| Zfp345 |
T |
A |
2: 150,314,220 (GRCm39) |
H439L |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTAGGACCATCTGTCCACAGTTGC -3'
(R):5'- TGCTCCCGAAGAGTACTAGTTGACC -3'
Sequencing Primer
(F):5'- TCTGTCCACAGTTGCAGAAATAC -3'
(R):5'- CGAAGAGTACTAGTTGACCTTTAGCC -3'
|
| Posted On |
2013-08-06 |
Incidental Mutation