Incidental Mutation 'IGL02102:Glce'
ID279811
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 #IGL02102
Quality Score
Status
Chromosome9
Chromosomal Location62057248-62122655 bp(-) (GRCm38)
Type of Mutationutr 5 prime
DNA Base Change (assembly) A to G at 62070601 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140671 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034785] [ENSMUST00000185675] [ENSMUST00000185873]
Predicted Effect probably benign
Transcript: ENSMUST00000034785
SMART Domains Protein: ENSMUSP00000034785
Gene: ENSMUSG00000032252

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
SMART Domains Protein: ENSMUSP00000139949
Gene: ENSMUSG00000032252

DomainStartEndE-ValueType
transmembrane domain 12 29 N/A INTRINSIC
Pfam:C5-epim_C 417 608 6.1e-81 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000185873
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts9 T C 6: 92,777,439 T1338A probably benign Het
Adcy3 G A 12: 4,134,699 C125Y probably damaging Het
Aoc1 A T 6: 48,905,962 K257N probably damaging Het
Apob T C 12: 7,989,407 V497A possibly damaging Het
Atp8b5 T A 4: 43,364,167 V684D probably benign Het
AW551984 A G 9: 39,589,691 W763R probably damaging Het
Blm G A 7: 80,469,756 T1026M probably damaging Het
Cd160 A G 3: 96,805,570 I126T possibly damaging Het
Cdk14 T C 5: 5,380,083 K15E probably benign Het
Cnot6l T C 5: 96,091,659 K261R probably damaging Het
Cyp3a13 T G 5: 137,911,603 T153P probably benign Het
Ddx24 A G 12: 103,408,484 probably benign Het
Dido1 G A 2: 180,662,247 T1288I possibly damaging Het
Dnajc13 A G 9: 104,229,009 V322A possibly damaging Het
Dnajc25 T A 4: 59,017,693 Y117* probably null Het
Dsg1a A G 18: 20,332,032 N427D probably benign Het
Gabrq T G X: 72,827,545 probably null Het
Gm10477 T C X: 56,525,401 L45P probably damaging Het
Htt T A 5: 34,891,481 probably benign Het
Ift140 A G 17: 25,033,130 E317G probably benign Het
Jak1 A G 4: 101,159,086 M827T probably benign Het
Kalrn A G 16: 34,220,222 V932A probably damaging Het
Mdm2 A C 10: 117,692,717 S227R possibly damaging Het
Olfr1216 A G 2: 89,013,126 probably benign Het
Olfr153 T C 2: 87,532,461 F143L probably benign Het
Olfr305 T C 7: 86,363,866 Y157C probably benign Het
Olfr995 A G 2: 85,438,267 V297A probably damaging Het
Olfr996 G A 2: 85,579,673 V145I probably damaging Het
Pdilt T G 7: 119,486,950 E514A probably benign Het
Pepd A G 7: 34,945,603 D153G probably damaging Het
Ptgis A T 2: 167,225,447 V70E probably damaging Het
Rnf112 T C 11: 61,452,015 K262E probably benign Het
Setd5 G T 6: 113,150,985 G1300* probably null Het
Snx15 A G 19: 6,122,074 L113P possibly damaging Het
Sptbn1 T C 11: 30,137,427 D1004G probably damaging Het
Ston2 A C 12: 91,639,724 *896G probably null Het
Suco A G 1: 161,827,705 S1073P probably damaging Het
Susd1 A C 4: 59,369,636 D344E possibly damaging Het
Trnt1 G T 6: 106,778,112 probably null Het
Ttll12 A G 15: 83,582,063 F399S probably damaging Het
Vmn1r124 C T 7: 21,260,542 V26I probably benign Het
Vmn1r52 T A 6: 90,179,207 N164K possibly damaging Het
Vmn1r56 A T 7: 5,196,336 M94K possibly damaging Het
Vmn1r80 T C 7: 12,193,691 F243L probably damaging Het
Zdhhc8 G A 16: 18,225,199 S379F possibly damaging 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
IGL02243:Glce APN 9 62070140 missense probably damaging 1.00
IGL03099:Glce APN 9 62060062 missense probably benign 0.18
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
R7937:Glce UTSW 9 62070491 missense probably benign 0.01
R8022:Glce UTSW 9 62060591 missense probably benign 0.08
X0057:Glce UTSW 9 62060370 missense probably damaging 1.00
Posted On2015-04-16