Incidental Mutation 'R1723:Dglucy'
| ID |
191628 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Dglucy
|
| Ensembl Gene |
ENSMUSG00000021185 |
| Gene Name |
D-glutamate cyclase |
| Synonyms |
9030617O03Rik |
| MMRRC Submission |
039755-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.117)
|
| Stock # |
R1723 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
100745316-100838869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100808938 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 212
(Y212C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129876
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069782]
[ENSMUST00000110069]
[ENSMUST00000110070]
[ENSMUST00000110073]
[ENSMUST00000154603]
[ENSMUST00000167322]
|
| AlphaFold |
Q8BH86 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000069782
AA Change: Y212C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000067830
Gene: ENSMUSG00000021185
AA Change: Y212C
| 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 damaging
Transcript: ENSMUST00000110069
AA Change: Y212C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105696
Gene: ENSMUSG00000021185
AA Change: Y212C
| 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 damaging
Transcript: ENSMUST00000110070
AA Change: Y212C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105697
Gene: ENSMUSG00000021185
AA Change: Y212C
| 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: Y242C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000105700
Gene: ENSMUSG00000021185
AA Change: Y242C
| 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 damaging
Transcript: ENSMUST00000167322
AA Change: Y212C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000129876
Gene: ENSMUSG00000021185
AA Change: Y212C
| 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 |
0.6161 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| Alms1 |
G |
T |
6: 85,605,735 (GRCm39) |
G2462C |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,937,406 (GRCm39) |
E464G |
probably damaging |
Het |
| Aoc3 |
T |
A |
11: 101,227,261 (GRCm39) |
V378E |
possibly damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,051,551 (GRCm39) |
K1152I |
possibly damaging |
Het |
| Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
| Calcoco1 |
C |
A |
15: 102,627,988 (GRCm39) |
G49C |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,453,401 (GRCm39) |
T88A |
possibly damaging |
Het |
| Cpeb1 |
C |
T |
7: 81,085,974 (GRCm39) |
R56Q |
probably benign |
Het |
| Dnhd1 |
C |
A |
7: 105,364,127 (GRCm39) |
P4160T |
possibly damaging |
Het |
| Ecel1 |
T |
C |
1: 87,082,143 (GRCm39) |
D190G |
probably benign |
Het |
| Exoc6b |
A |
G |
6: 85,046,326 (GRCm39) |
L21P |
probably damaging |
Het |
| Fam110c |
A |
G |
12: 31,124,394 (GRCm39) |
R119G |
unknown |
Het |
| Gask1b |
T |
A |
3: 79,843,970 (GRCm39) |
N32K |
probably benign |
Het |
| Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
| Hpcal4 |
A |
G |
4: 123,084,532 (GRCm39) |
I154V |
probably benign |
Het |
| Itgb1 |
A |
G |
8: 129,452,519 (GRCm39) |
D728G |
probably damaging |
Het |
| Kdm5d |
A |
T |
Y: 927,753 (GRCm39) |
D701V |
probably damaging |
Het |
| Kif18a |
A |
G |
2: 109,133,227 (GRCm39) |
K448E |
probably damaging |
Het |
| Kif26a |
T |
C |
12: 112,140,292 (GRCm39) |
F507S |
possibly damaging |
Het |
| Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
| Lrrc43 |
T |
A |
5: 123,630,276 (GRCm39) |
|
probably benign |
Het |
| Map3k20 |
T |
C |
2: 72,219,836 (GRCm39) |
I256T |
probably damaging |
Het |
| Med29 |
T |
A |
7: 28,092,130 (GRCm39) |
|
probably benign |
Het |
| Mob3b |
A |
G |
4: 34,954,026 (GRCm39) |
C215R |
probably damaging |
Het |
| Mtf2 |
T |
C |
5: 108,235,936 (GRCm39) |
Y87H |
probably damaging |
Het |
| Myo18a |
G |
A |
11: 77,744,140 (GRCm39) |
R1834K |
probably damaging |
Het |
| Nlrc4 |
T |
A |
17: 74,748,903 (GRCm39) |
D779V |
probably damaging |
Het |
| Or51q1c |
T |
C |
7: 103,652,518 (GRCm39) |
F18S |
probably damaging |
Het |
| Otud3 |
T |
C |
4: 138,625,329 (GRCm39) |
T242A |
probably damaging |
Het |
| Pcare |
A |
T |
17: 72,057,373 (GRCm39) |
F768Y |
probably damaging |
Het |
| Pnliprp1 |
T |
A |
19: 58,720,574 (GRCm39) |
M150K |
possibly damaging |
Het |
| Polm |
T |
A |
11: 5,784,776 (GRCm39) |
Q227L |
probably benign |
Het |
| Poln |
A |
G |
5: 34,280,016 (GRCm39) |
V282A |
probably benign |
Het |
| Ppfia2 |
T |
A |
10: 106,751,533 (GRCm39) |
|
probably null |
Het |
| Rad51 |
T |
G |
2: 118,954,295 (GRCm39) |
M168R |
probably benign |
Het |
| Senp2 |
A |
G |
16: 21,846,792 (GRCm39) |
T266A |
probably benign |
Het |
| Sfswap |
A |
G |
5: 129,616,758 (GRCm39) |
T401A |
probably benign |
Het |
| Slc35a4 |
C |
A |
18: 36,815,788 (GRCm39) |
T206K |
possibly damaging |
Het |
| Slc40a1 |
A |
G |
1: 45,963,921 (GRCm39) |
S23P |
probably damaging |
Het |
| Spef2 |
T |
C |
15: 9,614,295 (GRCm39) |
K1217R |
probably damaging |
Het |
| St18 |
A |
C |
1: 6,880,909 (GRCm39) |
|
probably benign |
Het |
| Tdrd6 |
T |
C |
17: 43,939,218 (GRCm39) |
D610G |
possibly damaging |
Het |
| Tmem163 |
C |
A |
1: 127,479,108 (GRCm39) |
R137L |
probably damaging |
Het |
| Tmem94 |
T |
A |
11: 115,685,574 (GRCm39) |
D942E |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,580,754 (GRCm39) |
I23380F |
possibly damaging |
Het |
| Uckl1 |
T |
A |
2: 181,212,393 (GRCm39) |
|
probably null |
Het |
| Vav2 |
T |
C |
2: 27,208,976 (GRCm39) |
D99G |
possibly damaging |
Het |
| Vmn2r30 |
T |
A |
7: 7,337,259 (GRCm39) |
I126F |
probably benign |
Het |
| Zbtb41 |
A |
T |
1: 139,351,301 (GRCm39) |
Q138L |
probably benign |
Het |
| Zfp599 |
T |
C |
9: 22,169,361 (GRCm39) |
Y37C |
probably damaging |
Het |
| Zfp784 |
T |
A |
7: 5,038,782 (GRCm39) |
T259S |
possibly damaging |
Het |
| Zfp954 |
T |
C |
7: 7,118,837 (GRCm39) |
S236G |
probably benign |
Het |
| Zng1 |
A |
G |
19: 24,925,458 (GRCm39) |
V166A |
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 |
|
|
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'- TGGCTCTGTTAGGACTCTGTGCTAC -3'
(R):5'- AAAGACTGGGTGTGTTGGCTCCTC -3'
Sequencing Primer
(F):5'- tccttcctcttctttctccttttc -3'
(R):5'- tggggaagtgctctactactg -3'
|
| Posted On |
2014-05-14 |
Incidental Mutation