Incidental Mutation 'R4519:Glod4'
| ID |
334135 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glod4
|
| Ensembl Gene |
ENSMUSG00000017286 |
| Gene Name |
glyoxalase domain containing 4 |
| Synonyms |
2700085E05Rik, 1700082G03Rik |
| MMRRC Submission |
041590-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R4519 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
76111221-76134525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76134397 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 25
(D25V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000132496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017430]
[ENSMUST00000040577]
[ENSMUST00000168055]
[ENSMUST00000170590]
[ENSMUST00000169701]
[ENSMUST00000170017]
[ENSMUST00000170710]
|
| AlphaFold |
Q9CPV4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000017430
AA Change: D25V
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000017430
Gene: ENSMUSG00000017286
AA Change: D25V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
143 |
256 |
1.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040577
|
| SMART Domains |
Protein: ENSMUSP00000042882
Gene: ENSMUSG00000038046
| Domain | Start | End | E-Value | Type |
|---|
|
SpoU_sub_bind
|
124 |
195 |
1.99e-5 |
SMART |
|
Pfam:SpoU_methylase
|
209 |
398 |
2.3e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125463
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164022
|
| SMART Domains |
Protein: ENSMUSP00000126699
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZI1|A
|
2 |
212 |
1e-143 |
PDB |
|
SCOP:d1mpya1
|
119 |
198 |
4e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167883
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000168055
|
| SMART Domains |
Protein: ENSMUSP00000130675
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZI1|A
|
2 |
98 |
3e-61 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169532
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170590
AA Change: D25V
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129009
Gene: ENSMUSG00000017286
AA Change: D25V
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZI1|A
|
1 |
47 |
2e-23 |
PDB |
|
SCOP:d1mpya2
|
1 |
66 |
1e-6 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000169701
AA Change: D25V
PolyPhen 2
Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286
AA Change: D25V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
143 |
256 |
2.7e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170017
AA Change: D25V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000132496
Gene: ENSMUSG00000017286
AA Change: D25V
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qipa_
|
1 |
40 |
3e-5 |
SMART |
|
PDB:3ZI1|A
|
1 |
47 |
4e-25 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170710
|
| SMART Domains |
Protein: ENSMUSP00000131788
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
124 |
237 |
6.1e-9 |
PFAM |
|
| Meta Mutation Damage Score |
0.5838 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921528I07Rik |
A |
G |
9: 114,129,092 (GRCm39) |
|
noncoding transcript |
Het |
| Acadsb |
A |
T |
7: 131,031,733 (GRCm39) |
T190S |
probably damaging |
Het |
| Adamts17 |
G |
T |
7: 66,490,314 (GRCm39) |
G132V |
probably damaging |
Het |
| Atosa |
A |
G |
9: 74,930,929 (GRCm39) |
I957M |
probably damaging |
Het |
| Atp8b3 |
C |
T |
10: 80,359,681 (GRCm39) |
M984I |
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,256,379 (GRCm39) |
|
probably null |
Het |
| Btbd18 |
T |
C |
2: 84,497,924 (GRCm39) |
Y521H |
probably damaging |
Het |
| Casd1 |
A |
G |
6: 4,621,102 (GRCm39) |
N220S |
probably benign |
Het |
| Ccdc112 |
T |
G |
18: 46,420,613 (GRCm39) |
E379A |
possibly damaging |
Het |
| Ccdc88a |
T |
C |
11: 29,432,651 (GRCm39) |
I1219T |
probably benign |
Het |
| Cntrl |
A |
T |
2: 35,063,123 (GRCm39) |
K1573M |
probably damaging |
Het |
| Col14a1 |
A |
T |
15: 55,251,975 (GRCm39) |
I544F |
unknown |
Het |
| Cyp20a1 |
A |
T |
1: 60,426,306 (GRCm39) |
Y416F |
probably damaging |
Het |
| Dagla |
T |
C |
19: 10,247,096 (GRCm39) |
K132E |
probably damaging |
Het |
| Dbn1 |
A |
T |
13: 55,624,042 (GRCm39) |
I350N |
possibly damaging |
Het |
| Ddx41 |
A |
T |
13: 55,680,957 (GRCm39) |
V329E |
probably damaging |
Het |
| Dhx32 |
A |
T |
7: 133,335,838 (GRCm39) |
Y272N |
probably damaging |
Het |
| Fam114a1 |
C |
A |
5: 65,163,225 (GRCm39) |
P174Q |
probably benign |
Het |
| Galnt3 |
C |
A |
2: 65,923,954 (GRCm39) |
R438L |
probably damaging |
Het |
| Ghr |
T |
A |
15: 3,362,970 (GRCm39) |
L167F |
probably damaging |
Het |
| Gm9767 |
T |
C |
10: 25,954,756 (GRCm39) |
|
probably benign |
Het |
| Golga4 |
T |
A |
9: 118,388,076 (GRCm39) |
S1733T |
probably benign |
Het |
| Gsdme |
A |
T |
6: 50,206,333 (GRCm39) |
I170N |
probably damaging |
Het |
| H2-M10.3 |
C |
T |
17: 36,678,722 (GRCm39) |
|
probably null |
Het |
| Kmt2c |
T |
A |
5: 25,568,475 (GRCm39) |
K867M |
probably damaging |
Het |
| Krt35 |
A |
G |
11: 99,985,453 (GRCm39) |
V196A |
possibly damaging |
Het |
| Ltbp1 |
A |
T |
17: 75,671,492 (GRCm39) |
M1558L |
probably benign |
Het |
| Mcam |
T |
G |
9: 44,052,640 (GRCm39) |
M623R |
possibly damaging |
Het |
| Mrps26 |
A |
T |
2: 130,406,269 (GRCm39) |
Q134L |
probably benign |
Het |
| Mxra8 |
T |
C |
4: 155,927,440 (GRCm39) |
|
probably null |
Het |
| Or13a21 |
A |
G |
7: 139,999,123 (GRCm39) |
S188P |
probably damaging |
Het |
| Or52n20 |
G |
A |
7: 104,320,046 (GRCm39) |
G46R |
probably damaging |
Het |
| Orc4 |
G |
A |
2: 48,827,501 (GRCm39) |
P31S |
probably benign |
Het |
| Pabir3 |
G |
A |
X: 52,382,376 (GRCm39) |
R94H |
possibly damaging |
Het |
| Parg |
C |
A |
14: 31,931,592 (GRCm39) |
T404K |
probably damaging |
Het |
| Parp8 |
C |
A |
13: 117,032,209 (GRCm39) |
L321F |
possibly damaging |
Het |
| Piezo2 |
T |
C |
18: 63,205,951 (GRCm39) |
E1486G |
probably damaging |
Het |
| Pign |
A |
T |
1: 105,525,391 (GRCm39) |
|
probably null |
Het |
| Pik3r4 |
A |
G |
9: 105,549,924 (GRCm39) |
H1005R |
probably damaging |
Het |
| Ppp6r1 |
A |
C |
7: 4,644,045 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
A |
G |
7: 140,734,491 (GRCm39) |
T309A |
probably benign |
Het |
| Ptprt |
T |
C |
2: 161,406,609 (GRCm39) |
M987V |
probably damaging |
Het |
| Rgs17 |
C |
A |
10: 5,868,192 (GRCm39) |
L9F |
probably benign |
Het |
| Rock2 |
A |
G |
12: 17,027,738 (GRCm39) |
R168G |
probably damaging |
Het |
| Rsph4a |
T |
A |
10: 33,787,623 (GRCm39) |
L593* |
probably null |
Het |
| Scaf11 |
C |
A |
15: 96,322,719 (GRCm39) |
K108N |
probably damaging |
Het |
| Sec23b |
T |
A |
2: 144,423,935 (GRCm39) |
M528K |
possibly damaging |
Het |
| Shank2 |
G |
A |
7: 143,963,942 (GRCm39) |
D727N |
probably damaging |
Het |
| Sipa1l2 |
T |
C |
8: 126,218,965 (GRCm39) |
D124G |
probably benign |
Het |
| Spatc1 |
A |
T |
15: 76,176,685 (GRCm39) |
I479F |
probably damaging |
Het |
| Tmem126b |
A |
G |
7: 90,118,316 (GRCm39) |
L188P |
probably damaging |
Het |
| Tnrc6b |
T |
G |
15: 80,764,448 (GRCm39) |
L650W |
probably damaging |
Het |
| Vmn2r62 |
A |
G |
7: 42,413,957 (GRCm39) |
F829L |
probably damaging |
Het |
|
| Other mutations in Glod4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00839:Glod4
|
APN |
11 |
76,124,104 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01099:Glod4
|
APN |
11 |
76,130,376 (GRCm39) |
nonsense |
probably null |
|
|
IGL01761:Glod4
|
APN |
11 |
76,134,428 (GRCm39) |
missense |
probably benign |
0.00 |
|
FR4548:Glod4
|
UTSW |
11 |
76,134,136 (GRCm39) |
start gained |
probably benign |
|
|
R1354:Glod4
|
UTSW |
11 |
76,128,654 (GRCm39) |
splice site |
probably null |
|
|
R1386:Glod4
|
UTSW |
11 |
76,112,829 (GRCm39) |
nonsense |
probably null |
|
|
R1791:Glod4
|
UTSW |
11 |
76,128,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2281:Glod4
|
UTSW |
11 |
76,128,635 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R2484:Glod4
|
UTSW |
11 |
76,130,344 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4515:Glod4
|
UTSW |
11 |
76,134,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4517:Glod4
|
UTSW |
11 |
76,134,397 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5945:Glod4
|
UTSW |
11 |
76,125,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6471:Glod4
|
UTSW |
11 |
76,124,744 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6488:Glod4
|
UTSW |
11 |
76,128,611 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6976:Glod4
|
UTSW |
11 |
76,134,406 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8263:Glod4
|
UTSW |
11 |
76,125,318 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9287:Glod4
|
UTSW |
11 |
76,128,510 (GRCm39) |
missense |
probably benign |
|
|
R9655:Glod4
|
UTSW |
11 |
76,125,292 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1186:Glod4
|
UTSW |
11 |
76,133,836 (GRCm39) |
missense |
probably benign |
|
|
Z1186:Glod4
|
UTSW |
11 |
76,133,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1187:Glod4
|
UTSW |
11 |
76,134,431 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Glod4
|
UTSW |
11 |
76,133,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1187:Glod4
|
UTSW |
11 |
76,133,836 (GRCm39) |
missense |
probably benign |
|
|
Z1187:Glod4
|
UTSW |
11 |
76,134,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Glod4
|
UTSW |
11 |
76,134,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1188:Glod4
|
UTSW |
11 |
76,133,836 (GRCm39) |
missense |
probably benign |
|
|
Z1188:Glod4
|
UTSW |
11 |
76,133,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1188:Glod4
|
UTSW |
11 |
76,134,431 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Glod4
|
UTSW |
11 |
76,134,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1189:Glod4
|
UTSW |
11 |
76,133,836 (GRCm39) |
missense |
probably benign |
|
|
Z1189:Glod4
|
UTSW |
11 |
76,133,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1189:Glod4
|
UTSW |
11 |
76,134,431 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Glod4
|
UTSW |
11 |
76,134,136 (GRCm39) |
start gained |
probably benign |
|
|
Z1190:Glod4
|
UTSW |
11 |
76,133,836 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Glod4
|
UTSW |
11 |
76,133,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1190:Glod4
|
UTSW |
11 |
76,134,431 (GRCm39) |
missense |
probably benign |
|
|
Z1190:Glod4
|
UTSW |
11 |
76,134,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Glod4
|
UTSW |
11 |
76,134,430 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1192:Glod4
|
UTSW |
11 |
76,133,836 (GRCm39) |
missense |
probably benign |
|
|
Z1192:Glod4
|
UTSW |
11 |
76,133,819 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1192:Glod4
|
UTSW |
11 |
76,134,431 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTGAGTCCCCTTTCAAAG -3'
(R):5'- GAGGGAGACAACACTCTCAC -3'
Sequencing Primer
(F):5'- TTTCAAAGGCTTCCCAACCCG -3'
(R):5'- CAGCAATGATCCCAGGGAGC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation