Incidental Mutation 'R1204:Glce'
ID 100344
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 039274-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1204 (G1)
Quality Score 225
Status Not validated
Chromosome 9
Chromosomal Location 61964526-62029891 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 61977849 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 12 (T12A)
Ref Sequence ENSEMBL: ENSMUSP00000140671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034785] [ENSMUST00000185675] [ENSMUST00000185873]
AlphaFold Q9EPS3
Predicted Effect possibly damaging
Transcript: ENSMUST00000034785
AA Change: T12A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: T12A

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: T12A

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: T12A

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:C5-epim_C 417 608 6.1e-81 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000185873
AA Change: T12A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186514
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 96.1%
  • 20x: 92.2%
Validation Efficiency
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: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,328,214 (GRCm39) I133F probably damaging Het
Acyp1 A T 12: 85,326,866 (GRCm39) probably null Het
Ermap T C 4: 119,046,064 (GRCm39) K22R possibly damaging Het
Hao1 G A 2: 134,364,947 (GRCm39) R227* probably null Het
Hectd4 A G 5: 121,488,548 (GRCm39) D3613G possibly damaging Het
Hspa2 A G 12: 76,451,641 (GRCm39) M112V probably benign Het
Knl1 A G 2: 118,901,670 (GRCm39) I1124V probably benign Het
Lrch3 T C 16: 32,829,584 (GRCm39) I738T probably damaging Het
Mgrn1 T G 16: 4,725,273 (GRCm39) F44V probably damaging Het
Or1af1 A G 2: 37,109,651 (GRCm39) Q50R probably benign Het
Otog G A 7: 45,909,335 (GRCm39) V602M probably benign Het
Pik3r5 T G 11: 68,385,050 (GRCm39) L652V probably benign Het
Pkdrej G A 15: 85,702,513 (GRCm39) T1141M probably damaging Het
Sema3a T C 5: 13,573,142 (GRCm39) probably benign Het
Syt3 A T 7: 44,042,091 (GRCm39) I317F probably damaging Het
Tmem214 C T 5: 31,033,134 (GRCm39) A509V probably damaging Het
Tmem25 T C 9: 44,706,529 (GRCm39) E284G probably benign Het
Trim9 T C 12: 70,393,501 (GRCm39) N148D probably damaging Het
Vmn2r107 A G 17: 20,578,031 (GRCm39) R447G probably benign Het
Zfp964 A T 8: 70,116,668 (GRCm39) I423L probably benign 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
R1436:Glce UTSW 9 61,977,292 (GRCm39) splice site probably null
R1475:Glce UTSW 9 61,968,210 (GRCm39) missense possibly damaging 0.75
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'- GTCTCGGACTTCCACATTGTAGCC -3'
(R):5'- TGTGCTGAGCAGTTTGCCTCTTATC -3'

Sequencing Primer
(F):5'- ATCGATCATAGCCGTCATACTGG -3'
(R):5'- CTTCACCTATGCTGAAAAGTTTGAG -3'
Posted On 2014-01-15