Incidental Mutation 'R6471:Glod4'
ID |
516705 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Glod4
|
Ensembl Gene |
ENSMUSG00000017286 |
Gene Name |
glyoxalase domain containing 4 |
Synonyms |
2700085E05Rik, 1700082G03Rik |
MMRRC Submission |
044604-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R6471 (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 T
at 76124744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 185
(F185L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000131788
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017430]
[ENSMUST00000168055]
[ENSMUST00000169701]
[ENSMUST00000170710]
[ENSMUST00000170590]
[ENSMUST00000170017]
|
AlphaFold |
Q9CPV4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000017430
AA Change: F204L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000017430 Gene: ENSMUSG00000017286 AA Change: F204L
Domain | Start | End | E-Value | Type |
Pfam:Glyoxalase_2
|
143 |
256 |
1.1e-10 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000164022
AA Change: F181L
|
SMART Domains |
Protein: ENSMUSP00000126699 Gene: ENSMUSG00000017286 AA Change: F181L
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 damaging
Transcript: ENSMUST00000169701
AA Change: F204L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000131174 Gene: ENSMUSG00000017286 AA Change: F204L
Domain | Start | End | E-Value | Type |
Pfam:Glyoxalase_2
|
143 |
256 |
2.7e-8 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000170710
AA Change: F185L
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000131788 Gene: ENSMUSG00000017286 AA Change: F185L
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 |
|
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.6%
|
Validation Efficiency |
97% (29/30) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Birc2 |
A |
G |
9: 7,857,421 (GRCm39) |
S351P |
probably benign |
Het |
Car9 |
T |
C |
4: 43,511,938 (GRCm39) |
V319A |
probably damaging |
Het |
Ccdc86 |
A |
G |
19: 10,926,243 (GRCm39) |
S119P |
unknown |
Het |
Ciao2a |
T |
A |
9: 66,034,139 (GRCm39) |
V4E |
possibly damaging |
Het |
Cideb |
T |
C |
14: 55,995,409 (GRCm39) |
R26G |
probably benign |
Het |
Clip1 |
A |
G |
5: 123,778,612 (GRCm39) |
V437A |
probably damaging |
Het |
Cobll1 |
A |
G |
2: 64,938,228 (GRCm39) |
S352P |
probably damaging |
Het |
Enpp5 |
G |
A |
17: 44,396,155 (GRCm39) |
G356S |
probably damaging |
Het |
Exoc3l |
A |
G |
8: 106,017,166 (GRCm39) |
V607A |
probably damaging |
Het |
Fam227b |
A |
T |
2: 125,962,985 (GRCm39) |
V177D |
probably damaging |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Gdap1 |
T |
A |
1: 17,230,249 (GRCm39) |
N227K |
possibly damaging |
Het |
Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
Lrrc37 |
T |
A |
11: 103,510,448 (GRCm39) |
|
probably benign |
Het |
Map3k19 |
C |
T |
1: 127,744,991 (GRCm39) |
V1488M |
probably damaging |
Het |
Pak5 |
A |
T |
2: 135,958,110 (GRCm39) |
M326K |
probably benign |
Het |
Peak1 |
A |
G |
9: 56,165,543 (GRCm39) |
L795P |
probably damaging |
Het |
Plcg1 |
A |
G |
2: 160,595,630 (GRCm39) |
D526G |
probably benign |
Het |
Rapgef6 |
A |
G |
11: 54,582,563 (GRCm39) |
I1492V |
probably damaging |
Het |
Rbfa |
G |
T |
18: 80,243,673 (GRCm39) |
S31* |
probably null |
Het |
Rnft1 |
T |
C |
11: 86,382,508 (GRCm39) |
Y244H |
possibly damaging |
Het |
Rsf1 |
CGGCGGCGG |
CGGCGGCGGGGGCGGCGG |
7: 97,229,121 (GRCm39) |
|
probably benign |
Het |
Slc6a3 |
G |
A |
13: 73,693,003 (GRCm39) |
G208R |
probably benign |
Het |
Tex15 |
G |
T |
8: 34,071,762 (GRCm39) |
Q2436H |
probably damaging |
Het |
Ttbk1 |
A |
G |
17: 46,778,203 (GRCm39) |
L613P |
probably benign |
Het |
Tuba1b |
T |
C |
15: 98,830,328 (GRCm39) |
K164R |
probably benign |
Het |
Usp9y |
A |
G |
Y: 1,384,511 (GRCm39) |
L669P |
probably damaging |
Homo |
Vmn1r169 |
A |
G |
7: 23,276,970 (GRCm39) |
T121A |
probably benign |
Het |
Vmn2r51 |
A |
C |
7: 9,836,510 (GRCm39) |
D90E |
possibly damaging |
Het |
Zfp318 |
A |
G |
17: 46,710,431 (GRCm39) |
H718R |
probably benign |
Het |
Zfp93 |
T |
C |
7: 23,972,754 (GRCm39) |
Y33H |
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 |
|
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 |
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'- CTGTATGGACATCTGCATTCATG -3'
(R):5'- CTTCACAGTGATTCAGTGAGTTTC -3'
Sequencing Primer
(F):5'- CACAAGATGGCTCTATCGAGGTTG -3'
(R):5'- ATCAGCTGACCTGTAAGCCTTGG -3'
|
Posted On |
2018-05-21 |