Incidental Mutation 'IGL02057:Galm'
ID185274
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: 0.096) question?
Stock #IGL02057
Quality Score
Status
Chromosome17
Chromosomal Location80127471-80185101 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80181567 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 214 (I214T)
Ref Sequence ENSEMBL: ENSMUSP00000040580 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039205]
Predicted Effect probably benign
Transcript: ENSMUST00000039205
AA Change: I214T

PolyPhen 2 Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000040580
Gene: ENSMUSG00000035473
AA Change: I214T

DomainStartEndE-ValueType
Pfam:Aldose_epim 20 338 7.1e-102 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000133955
AA Change: I41T
SMART Domains Protein: ENSMUSP00000120018
Gene: ENSMUSG00000035473
AA Change: I41T

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T C 9: 49,416,772 N369S probably damaging Het
Atp13a3 C T 16: 30,332,364 A1043T probably benign Het
AY358078 G A 14: 51,820,305 V287I unknown Het
Cemip T C 7: 83,987,453 E324G probably damaging Het
Ckap5 T A 2: 91,600,707 D1487E possibly damaging Het
Dscam G A 16: 96,716,073 Q879* probably null Het
Eci2 A G 13: 34,990,776 L50P probably damaging Het
Erp44 A T 4: 48,236,964 H65Q probably benign Het
Fahd1 A T 17: 24,849,596 I169N probably damaging Het
Gipc3 T A 10: 81,343,134 N42Y probably damaging Het
Gm10696 T A 3: 94,176,355 S50C probably damaging Het
H2-Eb2 A T 17: 34,335,767 probably benign Het
Itgb3 A T 11: 104,632,348 I113F probably damaging Het
Lef1 T G 3: 131,200,402 Y342* probably null Het
Lilrb4a G A 10: 51,492,007 D168N possibly damaging Het
Olfr1023 T A 2: 85,886,931 F44I probably benign Het
Olfr623 T A 7: 103,660,653 Y199F probably damaging Het
Orc1 T G 4: 108,588,729 S15A possibly damaging Het
Pdk2 C T 11: 95,028,498 G317D probably benign Het
Rab37 T C 11: 115,160,717 S217P probably benign Het
Rere C T 4: 150,614,832 probably benign Het
Scn11a C T 9: 119,765,470 G1286S probably damaging Het
Sirt1 A G 10: 63,325,203 S357P probably damaging Het
Smpdl3b T A 4: 132,733,713 E351V probably benign Het
Sox6 C A 7: 115,550,075 G355W probably damaging Het
Srpk2 G T 5: 23,518,707 A502E probably damaging Het
Trim67 G A 8: 124,823,130 V500I probably benign Het
Ube2v2 A G 16: 15,577,058 V83A probably benign Het
Usp43 A T 11: 67,856,287 S865T probably benign Het
Vdac1 G A 11: 52,376,544 probably null Het
Vmn2r69 T A 7: 85,411,782 H198L possibly damaging Het
Vmn2r93 T C 17: 18,325,770 C635R probably damaging Het
Other mutations in Galm
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01011:Galm APN 17 80183280 missense probably benign 0.03
IGL02212:Galm APN 17 80150117 missense probably benign 0.09
IGL02239:Galm APN 17 80145038 missense probably damaging 1.00
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 On2014-05-07