Incidental Mutation 'IGL03099:Glce'
ID418658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Glce
Ensembl Gene ENSMUSG00000032252
Gene Nameglucuronyl C5-epimerase
Synonyms1110017N23Rik, C130034A12Rik, Hsepi, heparan sulfate-glucuronic acid C5-epimerase
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03099
Quality Score
Status
Chromosome9
Chromosomal Location62057248-62122655 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 62060062 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 602 (F602L)
Ref Sequence ENSEMBL: ENSMUSP00000139949 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034785] [ENSMUST00000185675]
Predicted Effect probably benign
Transcript: ENSMUST00000034785
AA Change: F602L

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252
AA Change: F602L

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:C5-epim_C 417 608 1.5e-78 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185675
AA Change: F602L

PolyPhen 2 Score 0.176 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252
AA Change: F602L

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
Coding Region Coverage
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akp3 C A 1: 87,127,606 F458L probably benign Het
Alpi A G 1: 87,098,631 L546P unknown Het
Arpc5l A G 2: 39,013,832 Y111C probably damaging Het
Atp11a T C 8: 12,827,462 F296S possibly damaging Het
Bbof1 C T 12: 84,426,765 Q290* probably null Het
Brinp3 A T 1: 146,902,097 T761S possibly damaging Het
Cyp2j6 A T 4: 96,536,091 M143K possibly damaging Het
Daw1 T C 1: 83,179,367 probably null Het
Dst A G 1: 34,275,781 N6498D probably damaging Het
Fbxo15 T C 18: 84,981,213 L380P possibly damaging Het
Gpatch1 A G 7: 35,297,523 S417P possibly damaging Het
Hjurp T C 1: 88,266,289 K223R probably benign Het
Hnrnpm C T 17: 33,669,172 C113Y probably damaging Het
Igkv4-71 T C 6: 69,243,415 M11V probably benign Het
Insr G T 8: 3,258,715 T107K probably damaging Het
Mdm4 G A 1: 132,992,209 T306M probably damaging Het
Nek11 T C 9: 105,287,653 I425V probably benign Het
Otop3 T A 11: 115,339,582 V95E probably damaging Het
Scn3a G A 2: 65,536,672 A2V probably damaging Het
Snx10 T A 6: 51,579,860 M41K possibly damaging Het
Sos2 T A 12: 69,616,359 N588Y probably damaging Het
Srrm3 C A 5: 135,869,298 probably benign Het
Tbc1d19 G T 5: 53,883,655 probably benign Het
Vmn2r68 T A 7: 85,222,240 K612* probably null Het
Other mutations in Glce
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00534:Glce APN 9 62060483 missense probably damaging 1.00
IGL02005:Glce APN 9 62060577 missense probably damaging 1.00
IGL02093:Glce APN 9 62070539 missense probably damaging 1.00
IGL02102:Glce APN 9 62070601 utr 5 prime probably benign
IGL02243:Glce APN 9 62070140 missense probably damaging 1.00
R0004:Glce UTSW 9 62068579 missense probably damaging 1.00
R0626:Glce UTSW 9 62061000 missense probably benign
R1204:Glce UTSW 9 62070567 missense probably damaging 0.99
R1436:Glce UTSW 9 62070010 splice site probably null
R1475:Glce UTSW 9 62060928 missense possibly damaging 0.75
R1622:Glce UTSW 9 62070561 missense possibly damaging 0.90
R1712:Glce UTSW 9 62070575 missense probably damaging 1.00
R1740:Glce UTSW 9 62070533 missense probably damaging 0.97
R2060:Glce UTSW 9 62060946 missense possibly damaging 0.83
R4424:Glce UTSW 9 62060253 missense probably damaging 1.00
R4893:Glce UTSW 9 62068495 missense probably benign
R5350:Glce UTSW 9 62060305 nonsense probably null
R5569:Glce UTSW 9 62070203 missense probably benign 0.35
R5666:Glce UTSW 9 62060511 missense probably damaging 1.00
R5670:Glce UTSW 9 62060511 missense probably damaging 1.00
R5743:Glce UTSW 9 62070540 missense probably damaging 1.00
R5909:Glce UTSW 9 62060144 missense probably damaging 1.00
R7091:Glce UTSW 9 62060588 missense probably damaging 1.00
R7139:Glce UTSW 9 62070434 nonsense probably null
R7549:Glce UTSW 9 62060993 missense probably damaging 1.00
R7854:Glce UTSW 9 62070491 missense probably benign 0.01
R7965:Glce UTSW 9 62060946 missense probably damaging 1.00
R8022:Glce UTSW 9 62060591 missense probably benign 0.08
R8264:Glce UTSW 9 62060430 missense probably benign
R8743:Glce UTSW 9 62060821 missense probably benign 0.01
X0057:Glce UTSW 9 62060370 missense probably damaging 1.00
Posted On2016-08-02