Incidental Mutation 'IGL01761:Glod4'
| ID |
153585 |
| 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: 0.166)
|
| Stock # |
IGL01761
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76111221-76134525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76134428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 15
(N15D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129009
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017430]
[ENSMUST00000040577]
[ENSMUST00000168055]
[ENSMUST00000169701]
[ENSMUST00000170017]
[ENSMUST00000170590]
[ENSMUST00000170710]
|
| AlphaFold |
Q9CPV4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017430
AA Change: N15D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000017430
Gene: ENSMUSG00000017286
AA Change: N15D
| 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 |
unknown
Transcript: ENSMUST00000164022
AA Change: N3D
|
| SMART Domains |
Protein: ENSMUSP00000126699
Gene: ENSMUSG00000017286
AA Change: N3D
| 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: N15D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286
AA Change: N15D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
143 |
256 |
2.7e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170017
AA Change: N15D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000132496
Gene: ENSMUSG00000017286
AA Change: N15D
| 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: ENSMUST00000170590
AA Change: N15D
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129009
Gene: ENSMUSG00000017286
AA Change: N15D
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZI1|A
|
1 |
47 |
2e-23 |
PDB |
|
SCOP:d1mpya2
|
1 |
66 |
1e-6 |
SMART |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410137M14Rik |
T |
C |
17: 37,289,699 (GRCm39) |
T44A |
probably damaging |
Het |
| A2ml1 |
T |
A |
6: 128,523,300 (GRCm39) |
Q1212L |
possibly damaging |
Het |
| A530064D06Rik |
T |
C |
17: 48,460,127 (GRCm39) |
S190G |
possibly damaging |
Het |
| AA986860 |
A |
G |
1: 130,670,459 (GRCm39) |
H227R |
possibly damaging |
Het |
| Ace |
C |
A |
11: 105,870,319 (GRCm39) |
A826E |
possibly damaging |
Het |
| Amigo3 |
G |
A |
9: 107,930,601 (GRCm39) |
G8D |
possibly damaging |
Het |
| Angpt1 |
A |
T |
15: 42,339,863 (GRCm39) |
F283I |
possibly damaging |
Het |
| Arhgef5 |
T |
C |
6: 43,251,538 (GRCm39) |
L763P |
probably benign |
Het |
| Atr |
T |
C |
9: 95,833,501 (GRCm39) |
|
probably benign |
Het |
| C4b |
T |
A |
17: 34,958,912 (GRCm39) |
M506L |
possibly damaging |
Het |
| Cdc25a |
T |
C |
9: 109,720,933 (GRCm39) |
|
probably benign |
Het |
| Dcaf17 |
T |
C |
2: 70,886,881 (GRCm39) |
S57P |
probably damaging |
Het |
| Dph5 |
T |
A |
3: 115,693,362 (GRCm39) |
D93E |
probably damaging |
Het |
| Fam169a |
A |
G |
13: 97,228,426 (GRCm39) |
E33G |
possibly damaging |
Het |
| Fam193b |
G |
A |
13: 55,697,070 (GRCm39) |
T340I |
probably benign |
Het |
| Hrob |
T |
C |
11: 102,146,422 (GRCm39) |
C233R |
probably benign |
Het |
| Inpp5k |
A |
G |
11: 75,538,503 (GRCm39) |
E102G |
possibly damaging |
Het |
| Kif27 |
A |
T |
13: 58,485,459 (GRCm39) |
D500E |
probably benign |
Het |
| Lmntd1 |
A |
G |
6: 145,379,448 (GRCm39) |
I15T |
possibly damaging |
Het |
| Lrp2 |
C |
T |
2: 69,311,579 (GRCm39) |
R2633H |
possibly damaging |
Het |
| Lrp4 |
G |
A |
2: 91,312,326 (GRCm39) |
|
probably null |
Het |
| Lrrc3b |
A |
C |
14: 15,358,098 (GRCm38) |
N169K |
probably benign |
Het |
| Marchf7 |
T |
C |
2: 60,064,539 (GRCm39) |
S272P |
probably benign |
Het |
| Mier2 |
A |
G |
10: 79,384,186 (GRCm39) |
|
probably null |
Het |
| Myo9b |
G |
A |
8: 71,801,796 (GRCm39) |
S1307N |
probably damaging |
Het |
| Or4c115 |
G |
T |
2: 88,927,888 (GRCm39) |
P128T |
probably damaging |
Het |
| Or5p69 |
T |
G |
7: 107,967,525 (GRCm39) |
V276G |
probably damaging |
Het |
| Phkb |
A |
T |
8: 86,745,693 (GRCm39) |
M629L |
probably benign |
Het |
| Rergl |
C |
A |
6: 139,478,863 (GRCm39) |
V4F |
probably damaging |
Het |
| Rgs22 |
A |
T |
15: 36,103,897 (GRCm39) |
I188N |
probably damaging |
Het |
| Rgs3 |
G |
T |
4: 62,570,946 (GRCm39) |
|
probably benign |
Het |
| Rpl4 |
T |
A |
9: 64,082,221 (GRCm39) |
V40D |
probably damaging |
Het |
| Sox4 |
A |
T |
13: 29,136,790 (GRCm39) |
I72N |
possibly damaging |
Het |
| Syne1 |
A |
C |
10: 5,355,456 (GRCm39) |
V375G |
probably damaging |
Het |
| Tfrc |
G |
T |
16: 32,447,369 (GRCm39) |
D662Y |
probably damaging |
Het |
| Ubqln5 |
T |
C |
7: 103,777,634 (GRCm39) |
R397G |
possibly damaging |
Het |
| Unc13d |
T |
C |
11: 115,964,695 (GRCm39) |
D257G |
probably damaging |
Het |
| Vmn1r160 |
A |
T |
7: 22,570,868 (GRCm39) |
N74Y |
probably damaging |
Het |
| Vmn1r168 |
T |
A |
7: 23,241,070 (GRCm39) |
I309N |
possibly damaging |
Het |
| Vmn1r20 |
T |
C |
6: 57,408,725 (GRCm39) |
L17P |
probably damaging |
Het |
| Wdr19 |
A |
G |
5: 65,373,163 (GRCm39) |
I142V |
possibly damaging |
Het |
| Zan |
A |
T |
5: 137,423,859 (GRCm39) |
I2680N |
unknown |
Het |
| Zbtb20 |
T |
C |
16: 43,431,024 (GRCm39) |
F512L |
possibly 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 |
|
|
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 |
2014-02-04 |
Incidental Mutation