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) question?
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:Glyoxalase_2 124 237 6.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000170590
SMART Domains Protein: ENSMUSP00000129009
Gene: ENSMUSG00000017286

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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