Incidental Mutation 'R1354:Glod4'
ID |
156247 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glod4
|
Ensembl Gene |
ENSMUSG00000017286 |
Gene Name |
glyoxalase domain containing 4 |
Synonyms |
2700085E05Rik, 1700082G03Rik |
MMRRC Submission |
039419-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R1354 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
76111221-76134525 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 76128654 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017430]
[ENSMUST00000168055]
[ENSMUST00000168055]
[ENSMUST00000169701]
[ENSMUST00000169701]
[ENSMUST00000170017]
[ENSMUST00000170590]
[ENSMUST00000170710]
|
AlphaFold |
Q9CPV4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000017430
|
SMART Domains |
Protein: ENSMUSP00000017430 Gene: ENSMUSG00000017286
Domain | Start | End | E-Value | Type |
Pfam:Glyoxalase_2
|
143 |
256 |
1.1e-10 |
PFAM |
|
Predicted Effect |
probably null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000169701
|
SMART Domains |
Protein: ENSMUSP00000131174 Gene: ENSMUSG00000017286
Domain | Start | End | E-Value | Type |
Pfam:Glyoxalase_2
|
143 |
256 |
2.7e-8 |
PFAM |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000169701
|
SMART Domains |
Protein: ENSMUSP00000131174 Gene: ENSMUSG00000017286
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: 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 |
|
Predicted Effect |
probably null
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 |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.9%
- 20x: 92.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atoh1 |
A |
G |
6: 64,706,341 (GRCm39) |
E12G |
possibly damaging |
Het |
Ccdc183 |
T |
C |
2: 25,502,151 (GRCm39) |
N241S |
probably benign |
Het |
Cmya5 |
G |
A |
13: 93,228,566 (GRCm39) |
T2174I |
possibly damaging |
Het |
Edem1 |
A |
G |
6: 108,831,277 (GRCm39) |
I579M |
possibly damaging |
Het |
Gimap9 |
A |
T |
6: 48,654,982 (GRCm39) |
M190L |
probably benign |
Het |
Ighv8-6 |
A |
T |
12: 115,129,700 (GRCm39) |
S19T |
probably damaging |
Het |
Lef1 |
C |
T |
3: 130,988,317 (GRCm39) |
P267S |
probably damaging |
Het |
Megf11 |
A |
G |
9: 64,560,459 (GRCm39) |
E335G |
probably benign |
Het |
Muc5ac |
A |
G |
7: 141,361,114 (GRCm39) |
N1475S |
probably damaging |
Het |
Ndst2 |
C |
A |
14: 20,775,043 (GRCm39) |
R749L |
possibly damaging |
Het |
Oas3 |
C |
A |
5: 120,908,065 (GRCm39) |
V292L |
possibly damaging |
Het |
Phactr1 |
A |
T |
13: 43,210,807 (GRCm39) |
I210F |
possibly damaging |
Het |
Plppr5 |
G |
A |
3: 117,369,496 (GRCm39) |
R51H |
possibly damaging |
Het |
Ppp1r12b |
G |
A |
1: 134,763,721 (GRCm39) |
T771M |
probably benign |
Het |
Rasgrf2 |
G |
A |
13: 92,165,174 (GRCm39) |
P331S |
probably damaging |
Het |
Rtl6 |
C |
T |
15: 84,440,728 (GRCm39) |
V223M |
probably damaging |
Het |
Tbc1d9 |
A |
C |
8: 83,995,610 (GRCm39) |
|
probably null |
Het |
Tgm3 |
T |
C |
2: 129,883,818 (GRCm39) |
I492T |
probably benign |
Het |
Trdv1 |
T |
A |
14: 54,119,375 (GRCm39) |
|
probably benign |
Het |
Wdr45b |
A |
T |
11: 121,226,256 (GRCm39) |
I191N |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CAGGCTTTGCCTGGCCTATTGTA -3'
(R):5'- AGTGGATAGCTGACCAGTCCATGT -3'
Sequencing Primer
(F):5'- AGTTACCTGACTGAGATGGGC -3'
(R):5'- accactgagccatttctcc -3'
|
Posted On |
2014-02-11 |