Incidental Mutation 'R6976:Glod4'
| ID |
542467 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Glod4
|
| Ensembl Gene |
ENSMUSG00000017286 |
| Gene Name |
glyoxalase domain containing 4 |
| Synonyms |
2700085E05Rik, 1700082G03Rik |
| MMRRC Submission |
045382-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R6976 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
76111221-76134525 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76134406 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 22
(F22S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131174
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017430]
[ENSMUST00000040577]
[ENSMUST00000168055]
[ENSMUST00000169701]
[ENSMUST00000170017]
[ENSMUST00000170590]
[ENSMUST00000170710]
|
| AlphaFold |
Q9CPV4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000017430
AA Change: F22S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000017430
Gene: ENSMUSG00000017286
AA Change: F22S
| 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 |
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 |
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 |
probably damaging
Transcript: ENSMUST00000169701
AA Change: F22S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000131174
Gene: ENSMUSG00000017286
AA Change: F22S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Glyoxalase_2
|
143 |
256 |
2.7e-8 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170017
AA Change: F22S
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000132496
Gene: ENSMUSG00000017286
AA Change: F22S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qipa_
|
1 |
40 |
3e-5 |
SMART |
|
PDB:3ZI1|A
|
1 |
47 |
4e-25 |
PDB |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170590
AA Change: F22S
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000129009
Gene: ENSMUSG00000017286
AA Change: F22S
| 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 |
|
| Meta Mutation Damage Score |
0.7246 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (50/50) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
T |
A |
2: 155,397,929 (GRCm39) |
|
probably null |
Het |
| Adamts4 |
G |
T |
1: 171,079,877 (GRCm39) |
|
probably benign |
Het |
| Adgrv1 |
T |
A |
13: 81,669,116 (GRCm39) |
K2480M |
probably damaging |
Het |
| Ankhd1 |
A |
C |
18: 36,781,307 (GRCm39) |
S2120R |
probably benign |
Het |
| Ash1l |
T |
A |
3: 88,888,964 (GRCm39) |
V281E |
possibly damaging |
Het |
| Bdh1 |
G |
A |
16: 31,256,847 (GRCm39) |
A35T |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,054,751 (GRCm39) |
M1098V |
probably damaging |
Het |
| Cel |
G |
A |
2: 28,446,854 (GRCm39) |
S439F |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,378 (GRCm39) |
S64G |
probably benign |
Het |
| Dpp7 |
T |
C |
2: 25,244,836 (GRCm39) |
|
probably null |
Het |
| Fam83c |
T |
A |
2: 155,672,157 (GRCm39) |
Y426F |
possibly damaging |
Het |
| Fasn |
A |
G |
11: 120,710,693 (GRCm39) |
I322T |
probably damaging |
Het |
| Gm3127 |
A |
G |
14: 15,432,190 (GRCm39) |
T231A |
possibly damaging |
Het |
| Gm49383 |
A |
G |
12: 69,243,730 (GRCm39) |
S444P |
possibly damaging |
Het |
| Gnaz |
T |
C |
10: 74,827,268 (GRCm39) |
S7P |
possibly damaging |
Het |
| Grin2b |
C |
T |
6: 135,757,198 (GRCm39) |
S421N |
probably benign |
Het |
| Grm1 |
T |
C |
10: 10,564,924 (GRCm39) |
D1128G |
probably benign |
Het |
| Hoxb13 |
A |
G |
11: 96,087,044 (GRCm39) |
T284A |
probably benign |
Het |
| Il9r |
G |
A |
11: 32,143,177 (GRCm39) |
Q260* |
probably null |
Het |
| Lrrfip1 |
T |
A |
1: 91,042,737 (GRCm39) |
C381S |
probably benign |
Het |
| Mitd1 |
A |
T |
1: 37,921,778 (GRCm39) |
D85E |
probably benign |
Het |
| Muc4 |
G |
A |
16: 32,582,892 (GRCm39) |
D2556N |
possibly damaging |
Het |
| Nlrc4 |
A |
G |
17: 74,752,934 (GRCm39) |
I483T |
probably damaging |
Het |
| Or13e8 |
A |
G |
4: 43,697,170 (GRCm39) |
M1T |
probably null |
Het |
| Or2ag17 |
A |
T |
7: 106,389,434 (GRCm39) |
M258K |
probably damaging |
Het |
| Or8g4 |
A |
G |
9: 39,662,540 (GRCm39) |
N286S |
probably damaging |
Het |
| Pcdhb7 |
C |
A |
18: 37,476,631 (GRCm39) |
A589E |
probably benign |
Het |
| Pcdhgb5 |
G |
A |
18: 37,864,321 (GRCm39) |
E39K |
probably damaging |
Het |
| Pja2 |
T |
C |
17: 64,615,954 (GRCm39) |
K314E |
probably damaging |
Het |
| Plcb1 |
A |
G |
2: 135,104,159 (GRCm39) |
E276G |
possibly damaging |
Het |
| Ppp2r5c |
A |
G |
12: 110,510,579 (GRCm39) |
E122G |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,520,413 (GRCm39) |
N732K |
probably damaging |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,126 (GRCm39) |
D1348E |
probably benign |
Het |
| Sh3rf1 |
G |
T |
8: 61,814,766 (GRCm39) |
E442* |
probably null |
Het |
| Snapc1 |
A |
G |
12: 74,016,974 (GRCm39) |
D204G |
probably damaging |
Het |
| Sry |
C |
T |
Y: 2,662,938 (GRCm39) |
D241N |
unknown |
Het |
| Strn4 |
T |
A |
7: 16,564,279 (GRCm39) |
M303K |
probably benign |
Het |
| Tas2r118 |
A |
G |
6: 23,969,470 (GRCm39) |
I197T |
probably benign |
Het |
| Tnni3k |
A |
G |
3: 154,498,413 (GRCm39) |
Y809H |
probably benign |
Het |
| Tnpo3 |
A |
T |
6: 29,572,594 (GRCm39) |
C419* |
probably null |
Het |
| Trpm6 |
T |
C |
19: 18,760,527 (GRCm39) |
S143P |
probably benign |
Het |
| Ttc23l |
A |
T |
15: 10,537,666 (GRCm39) |
C201* |
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,120,388 (GRCm39) |
N271S |
probably damaging |
Het |
| Vmn1r70 |
T |
C |
7: 10,367,971 (GRCm39) |
M134T |
probably benign |
Het |
| Vmn2r27 |
C |
T |
6: 124,201,312 (GRCm39) |
W215* |
probably null |
Het |
| Xirp1 |
A |
T |
9: 119,846,984 (GRCm39) |
M633K |
probably damaging |
Het |
| Zfp174 |
T |
C |
16: 3,665,804 (GRCm39) |
I23T |
possibly damaging |
Het |
| Zfp536 |
T |
A |
7: 37,179,828 (GRCm39) |
S926C |
probably damaging |
Het |
| Zfp943 |
T |
C |
17: 22,209,922 (GRCm39) |
S65P |
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 |
|
|
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 |
|
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'- TGGTAGGTGAGTCCCCTTTC -3'
(R):5'- GAGGGAGACAACACTCTCAC -3'
Sequencing Primer
(F):5'- TTTCAAAGGCTTCCCAACCCG -3'
(R):5'- CAGCAATGATCCCAGGGAGC -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation