Incidental Mutation 'R1475:Glce'
ID 164003
Institutional Source Beutler Lab
Gene Symbol Glce
Ensembl Gene ENSMUSG00000032252
Gene Name glucuronyl C5-epimerase
Synonyms Hsepi, C130034A12Rik, heparan sulfate-glucuronic acid C5-epimerase, 1110017N23Rik
MMRRC Submission 039528-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1475 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 61964526-62029891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61968210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 314 (T314A)
Ref Sequence ENSEMBL: ENSMUSP00000139949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034785] [ENSMUST00000185675]
AlphaFold Q9EPS3
Predicted Effect possibly damaging
Transcript: ENSMUST00000034785
AA Change: T314A

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: T314A

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:C5-epim_C 417 608 1.5e-78 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000185675
AA Change: T314A

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: T314A

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:C5-epim_C 417 608 6.1e-81 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186514
Meta Mutation Damage Score 0.0790 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.8%
Validation Efficiency 96% (46/48)
MGI Phenotype PHENOTYPE: Homozygous mutant mice die immediately after birth showing severe developmental defects including renal agenesis, lung abnormalities, and skeletal malformations. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700018B08Rik A T 8: 122,267,327 (GRCm39) probably benign Het
9230112D13Rik T A 14: 34,234,012 (GRCm39) D93V unknown Het
Aatk G A 11: 119,901,714 (GRCm39) T894M probably damaging Het
Acacb T C 5: 114,333,313 (GRCm39) I479T possibly damaging Het
Acap3 T C 4: 155,987,278 (GRCm39) I431T probably damaging Het
Adgrl1 A G 8: 84,664,979 (GRCm39) K1267R possibly damaging Het
Bphl A C 13: 34,244,507 (GRCm39) D208A probably benign Het
C2cd5 T C 6: 143,018,298 (GRCm39) D308G possibly damaging Het
Camsap3 C T 8: 3,654,708 (GRCm39) R782C probably damaging Het
Cdk11b G A 4: 155,718,674 (GRCm39) R208H probably damaging Het
Cfap44 T C 16: 44,254,175 (GRCm39) probably benign Het
Chrna4 T C 2: 180,671,172 (GRCm39) S195G probably benign Het
Cpsf2 T C 12: 101,951,495 (GRCm39) L144S probably damaging Het
Creld2 G A 15: 88,704,834 (GRCm39) W103* probably null Het
Dffa T A 4: 149,201,935 (GRCm39) L171Q probably damaging Het
Emcn C T 3: 137,085,668 (GRCm39) H89Y possibly damaging Het
Espn G A 4: 152,218,728 (GRCm39) P452S probably damaging Het
Fam78b T A 1: 166,829,346 (GRCm39) I71N probably damaging Het
Fam89b A G 19: 5,779,447 (GRCm39) S37P probably damaging Het
Fat4 G A 3: 38,942,472 (GRCm39) R455H probably damaging Het
Fbxo6 A G 4: 148,230,567 (GRCm39) F232L probably benign Het
Fcamr T A 1: 130,742,221 (GRCm39) probably null Het
Fermt3 T C 19: 6,996,242 (GRCm39) probably null Het
Fsip2 A T 2: 82,817,539 (GRCm39) D4424V probably damaging Het
Gaa G A 11: 119,165,142 (GRCm39) probably null Het
Hdac5 T C 11: 102,093,012 (GRCm39) Q575R possibly damaging Het
Il23r C A 6: 67,429,280 (GRCm39) probably null Het
Kcnj4 T A 15: 79,368,831 (GRCm39) E383V probably damaging Het
Lrsam1 G T 2: 32,844,277 (GRCm39) Q115K possibly damaging Het
Lyst T A 13: 13,882,797 (GRCm39) probably null Het
Myf5 A G 10: 107,320,515 (GRCm39) V190A probably benign Het
Nmnat2 G A 1: 152,950,441 (GRCm39) R42H probably damaging Het
Or8b42 T A 9: 38,342,160 (GRCm39) V194D probably benign Het
Or8k20 A T 2: 86,105,905 (GRCm39) *309R probably null Het
Osbpl1a T A 18: 12,890,737 (GRCm39) K380M probably damaging Het
Pgd T C 4: 149,241,232 (GRCm39) T226A probably benign Het
Pitpnm3 T C 11: 71,965,453 (GRCm39) T127A probably damaging Het
Plekhm2 T C 4: 141,355,165 (GRCm39) D954G possibly damaging Het
Pramel14 T C 4: 143,720,882 (GRCm39) K20E probably benign Het
Rasal1 T A 5: 120,801,047 (GRCm39) F236I possibly damaging Het
Stab1 T C 14: 30,885,785 (GRCm39) N63S probably benign Het
Syf2 T A 4: 134,662,745 (GRCm39) M145K possibly damaging Het
Usp34 C A 11: 23,423,253 (GRCm39) L3152I probably damaging Het
Usp50 T C 2: 126,611,787 (GRCm39) probably null Het
Wdfy4 A T 14: 32,830,645 (GRCm39) I929N probably benign Het
Zfp874b A T 13: 67,622,211 (GRCm39) probably null Het
Other mutations in Glce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Glce APN 9 61,967,765 (GRCm39) missense probably damaging 1.00
IGL02005:Glce APN 9 61,967,859 (GRCm39) missense probably damaging 1.00
IGL02093:Glce APN 9 61,977,821 (GRCm39) missense probably damaging 1.00
IGL02102:Glce APN 9 61,977,883 (GRCm39) utr 5 prime probably benign
IGL02243:Glce APN 9 61,977,422 (GRCm39) missense probably damaging 1.00
IGL03099:Glce APN 9 61,967,344 (GRCm39) missense probably benign 0.18
R0004:Glce UTSW 9 61,975,861 (GRCm39) missense probably damaging 1.00
R0626:Glce UTSW 9 61,968,282 (GRCm39) missense probably benign
R1204:Glce UTSW 9 61,977,849 (GRCm39) missense probably damaging 0.99
R1436:Glce UTSW 9 61,977,292 (GRCm39) splice site probably null
R1622:Glce UTSW 9 61,977,843 (GRCm39) missense possibly damaging 0.90
R1712:Glce UTSW 9 61,977,857 (GRCm39) missense probably damaging 1.00
R1740:Glce UTSW 9 61,977,815 (GRCm39) missense probably damaging 0.97
R2060:Glce UTSW 9 61,968,228 (GRCm39) missense possibly damaging 0.83
R4424:Glce UTSW 9 61,967,535 (GRCm39) missense probably damaging 1.00
R4893:Glce UTSW 9 61,975,777 (GRCm39) missense probably benign
R5350:Glce UTSW 9 61,967,587 (GRCm39) nonsense probably null
R5569:Glce UTSW 9 61,977,485 (GRCm39) missense probably benign 0.35
R5666:Glce UTSW 9 61,967,793 (GRCm39) missense probably damaging 1.00
R5670:Glce UTSW 9 61,967,793 (GRCm39) missense probably damaging 1.00
R5743:Glce UTSW 9 61,977,822 (GRCm39) missense probably damaging 1.00
R5909:Glce UTSW 9 61,967,426 (GRCm39) missense probably damaging 1.00
R7091:Glce UTSW 9 61,967,870 (GRCm39) missense probably damaging 1.00
R7139:Glce UTSW 9 61,977,716 (GRCm39) nonsense probably null
R7549:Glce UTSW 9 61,968,275 (GRCm39) missense probably damaging 1.00
R7854:Glce UTSW 9 61,977,773 (GRCm39) missense probably benign 0.01
R7965:Glce UTSW 9 61,968,228 (GRCm39) missense probably damaging 1.00
R8022:Glce UTSW 9 61,967,873 (GRCm39) missense probably benign 0.08
R8264:Glce UTSW 9 61,967,712 (GRCm39) missense probably benign
R8743:Glce UTSW 9 61,968,103 (GRCm39) missense probably benign 0.01
R9048:Glce UTSW 9 61,967,413 (GRCm39) nonsense probably null
X0057:Glce UTSW 9 61,967,652 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGAATCCCTTCCCTTTTGCAATCAAC -3'
(R):5'- ACTTATCAGTGATCCGTGATCAGGTGG -3'

Sequencing Primer
(F):5'- AATCAACCTAACCACCTTTTTGG -3'
(R):5'- TGATCAGAATCCTTCCTGTAAACC -3'
Posted On 2014-03-28