Incidental Mutation 'IGL02940:Pgls'
ID364461
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pgls
Ensembl Gene ENSMUSG00000031807
Gene Name6-phosphogluconolactonase
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.128) question?
Stock #IGL02940
Quality Score
Status
Chromosome8
Chromosomal Location71592176-71601092 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 71594097 bp
ZygosityHeterozygous
Amino Acid Change Serine to Leucine at position 18 (S18L)
Ref Sequence ENSEMBL: ENSMUSP00000116524 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034264] [ENSMUST00000127626] [ENSMUST00000143441] [ENSMUST00000143662]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034264
AA Change: S101L

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000034264
Gene: ENSMUSG00000031807
AA Change: S101L

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 18 217 2.1e-62 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124485
Predicted Effect probably benign
Transcript: ENSMUST00000127626
AA Change: S101L

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000122042
Gene: ENSMUSG00000031807
AA Change: S101L

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 18 214 7.2e-62 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000138742
AA Change: S94L

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000120113
Gene: ENSMUSG00000031807
AA Change: S94L

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 7 174 7.6e-46 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000143441
AA Change: S18L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000116524
Gene: ENSMUSG00000031807
AA Change: S18L

DomainStartEndE-ValueType
Pfam:Glucosamine_iso 12 134 3.8e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000143662
SMART Domains Protein: ENSMUSP00000123432
Gene: ENSMUSG00000043243

DomainStartEndE-ValueType
low complexity region 9 20 N/A INTRINSIC
PH 68 196 4.94e-4 SMART
low complexity region 218 230 N/A INTRINSIC
low complexity region 260 269 N/A INTRINSIC
low complexity region 437 448 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 T A 8: 95,033,456 V101D possibly damaging Het
Brca1 T C 11: 101,489,912 D1765G probably benign Het
Cadps2 T C 6: 23,496,809 K450R probably benign Het
Cc2d2a A T 5: 43,728,294 probably null Het
Dbh A G 2: 27,168,309 Y163C probably damaging Het
Drc7 T A 8: 95,074,297 I649N probably damaging Het
Dst G A 1: 34,289,587 A7097T probably benign Het
Fbxo46 A G 7: 19,135,612 H52R probably benign Het
Gm10451 A C 12: 76,451,170 noncoding transcript Het
Gm9944 T C 4: 144,453,139 probably benign Het
Lsm14a G T 7: 34,371,171 S100* probably null Het
Mrc2 C T 11: 105,341,171 R850C probably damaging Het
Musk A G 4: 58,373,364 D763G probably damaging Het
Ncan C T 8: 70,110,085 V508I probably benign Het
Olfr1277 A T 2: 111,269,728 L213Q probably damaging Het
Phf20l1 A G 15: 66,595,151 T98A probably damaging Het
Prdm13 T A 4: 21,683,421 K180* probably null Het
Rai1 T C 11: 60,187,018 V636A probably benign Het
Setd5 T C 6: 113,114,938 F240S possibly damaging Het
Slco1a5 A G 6: 142,242,005 L536P probably damaging Het
Stk39 C T 2: 68,220,899 probably null Het
Tenm2 T C 11: 36,041,644 T1707A probably damaging Het
Tlr2 A T 3: 83,836,474 D767E probably benign Het
Tlr7 C T X: 167,307,834 V219I probably benign Het
Tmprss7 A G 16: 45,656,455 S815P probably damaging Het
Trav12-1 T A 14: 53,538,560 W57R probably damaging Het
Uxt T C X: 20,959,786 E66G possibly damaging Het
Vmn2r45 A T 7: 8,472,370 M553K probably damaging Het
Vmn2r67 A G 7: 85,136,743 W685R probably benign Het
Vstm5 A C 9: 15,257,666 D144A probably damaging Het
Zfp592 A G 7: 81,024,827 H513R probably damaging Het
Zfp830 T A 11: 82,765,469 probably benign Het
Zfp990 A G 4: 145,534,922 probably null Het
Other mutations in Pgls
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4086:Pgls UTSW 8 71596090 missense probably damaging 1.00
R7852:Pgls UTSW 8 71595203 critical splice donor site probably null
R7935:Pgls UTSW 8 71595203 critical splice donor site probably null
RF009:Pgls UTSW 8 71592463 missense probably damaging 1.00
Posted On2015-12-18