Incidental Mutation 'IGL02239:Galm'
ID286012
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galm
Ensembl Gene ENSMUSG00000035473
Gene Namegalactose mutarotase
SynonymsA530057M15Rik, aldose 1-epimerase
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL02239
Quality Score
Status
Chromosome17
Chromosomal Location80127471-80185101 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 80145038 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 135 (D135G)
Ref Sequence ENSEMBL: ENSMUSP00000040580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039205]
Predicted Effect probably damaging
Transcript: ENSMUST00000039205
AA Change: D135G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000040580
Gene: ENSMUSG00000035473
AA Change: D135G

DomainStartEndE-ValueType
Pfam:Aldose_epim 20 338 7.1e-102 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000133955
SMART Domains Protein: ENSMUSP00000120018
Gene: ENSMUSG00000035473

DomainStartEndE-ValueType
Pfam:Aldose_epim 1 159 6.1e-41 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an enzyme that catalyzes the epimerization of hexose sugars such as glucose and galactose. The encoded protein is expressed in the cytoplasm and has a preference for galactose. The encoded protein may be required for normal galactose metabolism by maintaining the equilibrium of alpha and beta anomers of galactose.[provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830411N06Rik T C 7: 140,295,843 F340S probably damaging Het
Abcf3 A G 16: 20,550,636 E262G possibly damaging Het
Adgra3 T A 5: 49,960,712 S1165C probably damaging Het
Akap11 A G 14: 78,513,849 L366P probably damaging Het
Astn1 T C 1: 158,664,130 probably null Het
Bhmt2 C T 13: 93,663,179 G250R probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cntnap2 A G 6: 47,021,654 D880G probably damaging Het
Erc1 A G 6: 119,773,891 V443A probably damaging Het
Fbxw15 A G 9: 109,559,837 I168T probably benign Het
Fgfr2 C T 7: 130,177,686 A504T probably damaging Het
Gstp3 C T 19: 4,057,899 V145I possibly damaging Het
Hspa5 T C 2: 34,772,776 F115L probably benign Het
Lig4 A C 8: 9,972,473 S436A probably damaging Het
Ncam1 A G 9: 49,567,402 V99A probably damaging Het
Nell1 T A 7: 50,249,650 I336N probably benign Het
Olfr44 T A 9: 39,484,561 I231F probably damaging Het
Olfr476 T C 7: 107,968,047 S217P probably damaging Het
Olfr600 T C 7: 103,346,598 Y110C probably damaging Het
Patl1 A T 19: 11,937,359 K625* probably null Het
Qrsl1 G A 10: 43,894,600 P99S possibly damaging Het
Rfx8 T C 1: 39,680,886 D343G probably benign Het
Serpinb3a T A 1: 107,051,688 Y28F probably benign Het
Slc6a4 A T 11: 77,027,156 I575F probably benign Het
Tbx5 T A 5: 119,871,280 S285T possibly damaging Het
Tmem229a A T 6: 24,955,540 S72T probably damaging Het
Ttn T C 2: 76,746,404 D24715G probably damaging Het
Zfp784 T C 7: 5,035,671 probably benign Het
Zswim2 T A 2: 83,938,763 K85* probably null Het
Other mutations in Galm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Galm APN 17 80183280 missense probably benign 0.03
IGL02057:Galm APN 17 80181567 missense probably benign 0.05
IGL02212:Galm APN 17 80150117 missense probably benign 0.09
R1442:Galm UTSW 17 80145185 missense probably damaging 0.99
R1511:Galm UTSW 17 80183267 missense probably damaging 1.00
R2129:Galm UTSW 17 80183218 missense probably benign
R2298:Galm UTSW 17 80181697 nonsense probably null
R3724:Galm UTSW 17 80183280 missense probably benign 0.03
R5307:Galm UTSW 17 80144987 nonsense probably null
R5307:Galm UTSW 17 80144988 missense probably damaging 1.00
R5602:Galm UTSW 17 80150139 nonsense probably null
R5778:Galm UTSW 17 80127717 start codon destroyed probably null 1.00
R5873:Galm UTSW 17 80138103 missense probably benign 0.19
R6801:Galm UTSW 17 80181624 missense probably benign 0.01
R7454:Galm UTSW 17 80138121 missense possibly damaging 0.76
Posted On2015-04-16