Incidental Mutation 'IGL01099:Glod4'
| ID |
52287 |
| 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 # |
IGL01099
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
76111221-76134525 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 76130376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 36
(K36*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017430]
[ENSMUST00000040577]
[ENSMUST00000168055]
[ENSMUST00000169701]
[ENSMUST00000170710]
[ENSMUST00000170017]
[ENSMUST00000170590]
|
| AlphaFold |
Q9CPV4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017430
AA Change: K55*
|
| SMART Domains |
Protein: ENSMUSP00000017430
Gene: ENSMUSG00000017286
AA Change: K55*
| 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 null
Transcript: ENSMUST00000164022
AA Change: K32*
|
| SMART Domains |
Protein: ENSMUSP00000126699
Gene: ENSMUSG00000017286
AA Change: K32*
| 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 null
Transcript: ENSMUST00000168055
AA Change: K32*
|
| SMART Domains |
Protein: ENSMUSP00000130675
Gene: ENSMUSG00000017286
AA Change: K32*
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3ZI1|A
|
2 |
98 |
3e-61 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169532
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000169701
AA Change: K55*
|
| SMART Domains |
Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286
AA Change: K55*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
143 |
256 |
2.7e-8 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000170710
AA Change: K36*
|
| SMART Domains |
Protein: ENSMUSP00000131788
Gene: ENSMUSG00000017286
AA Change: K36*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
124 |
237 |
6.1e-9 |
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: 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
G |
A |
11: 109,965,031 (GRCm39) |
|
probably benign |
Het |
| Adam28 |
A |
G |
14: 68,874,778 (GRCm39) |
|
probably null |
Het |
| Adcy10 |
A |
G |
1: 165,367,411 (GRCm39) |
I560M |
probably benign |
Het |
| Alpl |
G |
A |
4: 137,470,624 (GRCm39) |
|
probably benign |
Het |
| Ank1 |
G |
A |
8: 23,598,265 (GRCm39) |
G753D |
probably damaging |
Het |
| Arhgef28 |
A |
T |
13: 98,090,480 (GRCm39) |
|
probably benign |
Het |
| Bmp7 |
A |
T |
2: 172,717,055 (GRCm39) |
C329S |
probably damaging |
Het |
| Capn13 |
T |
C |
17: 73,658,504 (GRCm39) |
D188G |
probably damaging |
Het |
| Car10 |
G |
A |
11: 93,469,516 (GRCm39) |
E164K |
possibly damaging |
Het |
| Cfhr1 |
T |
A |
1: 139,475,497 (GRCm39) |
|
probably benign |
Het |
| Col11a1 |
C |
T |
3: 113,905,690 (GRCm39) |
R562* |
probably null |
Het |
| Colec12 |
C |
T |
18: 9,848,826 (GRCm39) |
R335C |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,417,488 (GRCm39) |
|
probably null |
Het |
| Epb41l3 |
A |
G |
17: 69,517,188 (GRCm39) |
D72G |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,811,922 (GRCm39) |
L1335P |
probably benign |
Het |
| F5 |
T |
G |
1: 164,021,903 (GRCm39) |
N1459K |
probably damaging |
Het |
| Fam161a |
T |
C |
11: 22,965,894 (GRCm39) |
|
probably benign |
Het |
| Flnc |
G |
A |
6: 29,433,617 (GRCm39) |
V54M |
probably damaging |
Het |
| Fndc3b |
T |
C |
3: 27,517,966 (GRCm39) |
I607V |
probably benign |
Het |
| Fscb |
A |
G |
12: 64,518,875 (GRCm39) |
S864P |
unknown |
Het |
| Gm6619 |
G |
A |
6: 131,467,393 (GRCm39) |
R86Q |
possibly damaging |
Het |
| Gm7052 |
T |
C |
17: 22,258,706 (GRCm39) |
|
probably benign |
Het |
| Gyg1 |
A |
T |
3: 20,205,211 (GRCm39) |
M119K |
probably benign |
Het |
| Ifit2 |
A |
T |
19: 34,550,702 (GRCm39) |
I81F |
probably damaging |
Het |
| Insr |
T |
C |
8: 3,308,682 (GRCm39) |
Y118C |
probably damaging |
Het |
| Katnip |
T |
A |
7: 125,464,492 (GRCm39) |
H1286Q |
probably damaging |
Het |
| Kcnh3 |
T |
C |
15: 99,137,617 (GRCm39) |
S771P |
probably benign |
Het |
| Kndc1 |
C |
A |
7: 139,500,700 (GRCm39) |
H688Q |
probably damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,165,591 (GRCm39) |
C330R |
probably damaging |
Het |
| Naa50 |
A |
T |
16: 43,976,832 (GRCm39) |
N23I |
probably damaging |
Het |
| Nt5el |
A |
T |
13: 105,245,868 (GRCm39) |
H143L |
probably benign |
Het |
| Or55b4 |
T |
A |
7: 102,133,685 (GRCm39) |
D214V |
probably damaging |
Het |
| Or5a1 |
A |
G |
19: 12,097,240 (GRCm39) |
S279P |
probably damaging |
Het |
| Or8b48 |
T |
C |
9: 38,493,373 (GRCm39) |
S267P |
probably benign |
Het |
| Or8c16 |
T |
C |
9: 38,131,039 (GRCm39) |
S307P |
probably benign |
Het |
| Pfkp |
A |
T |
13: 6,653,426 (GRCm39) |
|
probably benign |
Het |
| Phlda2 |
G |
A |
7: 143,055,876 (GRCm39) |
|
probably null |
Het |
| Plxnd1 |
C |
A |
6: 115,946,906 (GRCm39) |
V823L |
probably benign |
Het |
| Prpf40a |
T |
A |
2: 53,031,847 (GRCm39) |
H794L |
probably benign |
Het |
| Ripor2 |
A |
T |
13: 24,885,190 (GRCm39) |
H436L |
probably benign |
Het |
| Rnf138 |
T |
A |
18: 21,153,970 (GRCm39) |
C159S |
possibly damaging |
Het |
| Scn7a |
A |
T |
2: 66,514,582 (GRCm39) |
V1064D |
probably damaging |
Het |
| Slc12a2 |
T |
A |
18: 58,039,092 (GRCm39) |
C557* |
probably null |
Het |
| Slc1a6 |
T |
C |
10: 78,624,831 (GRCm39) |
S79P |
possibly damaging |
Het |
| Snapin |
G |
A |
3: 90,397,909 (GRCm39) |
|
probably benign |
Het |
| Tdp1 |
A |
T |
12: 99,881,704 (GRCm39) |
|
probably benign |
Het |
| Tigar |
G |
T |
6: 127,065,108 (GRCm39) |
A180E |
probably benign |
Het |
| Trav6-2 |
A |
T |
14: 52,905,122 (GRCm39) |
T48S |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,558,776 (GRCm39) |
Y29702H |
probably damaging |
Het |
| Ush1c |
A |
G |
7: 45,854,686 (GRCm39) |
S689P |
probably damaging |
Het |
| Vmn1r40 |
A |
T |
6: 89,691,578 (GRCm39) |
I132F |
probably damaging |
Het |
| Vmn1r85 |
T |
A |
7: 12,818,461 (GRCm39) |
K228* |
probably null |
Het |
| Wdr33 |
C |
A |
18: 32,039,842 (GRCm39) |
|
probably benign |
Het |
| Ybx2 |
A |
T |
11: 69,831,556 (GRCm39) |
Q136L |
probably damaging |
Het |
| Ypel1 |
T |
A |
16: 16,909,076 (GRCm39) |
M368L |
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 |
|
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 |
2013-06-21 |
Incidental Mutation