Incidental Mutation 'IGL00839:Glod4'
| ID |
10966 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Glod4
|
| Ensembl Gene |
ENSMUSG00000017286 |
| Gene Name |
glyoxalase domain containing 4 |
| Synonyms |
2700085E05Rik, 1700082G03Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
IGL00839
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76111221-76134525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 76124104 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 223
(H223L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017430]
[ENSMUST00000168055]
[ENSMUST00000169701]
[ENSMUST00000170017]
[ENSMUST00000170710]
[ENSMUST00000170590]
|
| AlphaFold |
Q9CPV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017430
AA Change: H223L
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000017430
Gene: ENSMUSG00000017286
AA Change: H223L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
143 |
256 |
1.1e-10 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164022
AA Change: H200L
|
| SMART Domains |
Protein: ENSMUSP00000126699
Gene: ENSMUSG00000017286
AA Change: H200L
| 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 benign
Transcript: ENSMUST00000169701
AA Change: H223L
PolyPhen 2
Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286
AA Change: H223L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
143 |
256 |
2.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170017
|
| SMART Domains |
Protein: ENSMUSP00000132496
Gene: ENSMUSG00000017286
| 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
AA Change: H204L
PolyPhen 2
Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000131788
Gene: ENSMUSG00000017286
AA Change: H204L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
124 |
237 |
6.1e-9 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170590
|
| SMART Domains |
Protein: ENSMUSP00000129009
Gene: ENSMUSG00000017286
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZI1|A
|
1 |
47 |
2e-23 |
PDB |
|
SCOP:d1mpya2
|
1 |
66 |
1e-6 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
A |
T |
14: 32,382,873 (GRCm39) |
S1031T |
probably benign |
Het |
| a |
T |
A |
2: 154,887,593 (GRCm39) |
F18I |
probably benign |
Het |
| Acsl4 |
A |
T |
X: 141,122,948 (GRCm39) |
N421K |
possibly damaging |
Het |
| Ampd1 |
A |
G |
3: 103,007,010 (GRCm39) |
E745G |
possibly damaging |
Het |
| Ankrd44 |
T |
C |
1: 54,706,594 (GRCm39) |
N436D |
probably benign |
Het |
| Ap1s2 |
A |
G |
X: 162,709,951 (GRCm39) |
Y160C |
probably damaging |
Het |
| Bms1 |
C |
T |
6: 118,382,252 (GRCm39) |
V429M |
probably benign |
Het |
| Cep57l1 |
T |
C |
10: 41,607,089 (GRCm39) |
E158G |
probably damaging |
Het |
| Cldn34b4 |
T |
A |
X: 75,440,955 (GRCm39) |
C71S |
probably damaging |
Het |
| Col1a2 |
C |
T |
6: 4,531,095 (GRCm39) |
|
probably benign |
Het |
| Crisp3 |
T |
G |
17: 40,550,147 (GRCm39) |
|
probably null |
Het |
| Dbt |
G |
A |
3: 116,339,763 (GRCm39) |
G384S |
probably benign |
Het |
| Defa24 |
T |
A |
8: 22,224,713 (GRCm39) |
L54H |
probably damaging |
Het |
| Dennd1a |
A |
G |
2: 37,706,994 (GRCm39) |
V504A |
probably benign |
Het |
| Eloa |
G |
A |
4: 135,738,670 (GRCm39) |
R97C |
probably damaging |
Het |
| Espl1 |
T |
C |
15: 102,228,982 (GRCm39) |
|
probably benign |
Het |
| Fgb |
T |
A |
3: 82,950,598 (GRCm39) |
R385S |
possibly damaging |
Het |
| Hrh1 |
C |
T |
6: 114,457,283 (GRCm39) |
T188I |
probably damaging |
Het |
| Hsph1 |
G |
T |
5: 149,541,919 (GRCm39) |
A769D |
possibly damaging |
Het |
| Jak2 |
C |
T |
19: 29,279,047 (GRCm39) |
P933S |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,900,017 (GRCm39) |
D107E |
probably benign |
Het |
| Osbpl8 |
T |
A |
10: 111,127,371 (GRCm39) |
S776R |
probably benign |
Het |
| Pcna |
C |
T |
2: 132,093,340 (GRCm39) |
V136I |
probably benign |
Het |
| Pde11a |
A |
G |
2: 76,045,729 (GRCm39) |
F365S |
probably damaging |
Het |
| Pi15 |
A |
G |
1: 17,691,747 (GRCm39) |
H183R |
probably damaging |
Het |
| Plce1 |
A |
G |
19: 38,687,006 (GRCm39) |
Y638C |
probably damaging |
Het |
| Pnpla6 |
A |
G |
8: 3,592,299 (GRCm39) |
D1196G |
probably benign |
Het |
| Pramel26 |
T |
C |
4: 143,539,293 (GRCm39) |
T67A |
probably benign |
Het |
| Psg22 |
A |
G |
7: 18,456,893 (GRCm39) |
I220V |
probably benign |
Het |
| Rap1gap2 |
A |
T |
11: 74,328,274 (GRCm39) |
Y97N |
probably damaging |
Het |
| Taf2 |
A |
T |
15: 54,909,174 (GRCm39) |
C690* |
probably null |
Het |
| Taf3 |
A |
T |
2: 9,957,728 (GRCm39) |
D146E |
probably damaging |
Het |
| Tnrc6c |
A |
G |
11: 117,605,011 (GRCm39) |
T49A |
possibly damaging |
Het |
| Trdn |
T |
C |
10: 33,347,602 (GRCm39) |
|
probably null |
Het |
| Ttc29 |
C |
T |
8: 79,060,385 (GRCm39) |
T435I |
probably benign |
Het |
| Vps37b |
T |
C |
5: 124,148,814 (GRCm39) |
T74A |
possibly damaging |
Het |
| Zbtb11 |
T |
A |
16: 55,820,965 (GRCm39) |
Y687* |
probably null |
Het |
|
| Other mutations in Glod4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R4519: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 |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation