Incidental Mutation 'IGL00820:Galt'
ID10908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Galt
Ensembl Gene ENSMUSG00000036073
Gene Namegalactose-1-phosphate uridyl transferase
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.328) question?
Stock #IGL00820
Quality Score
Status
Chromosome4
Chromosomal Location41755228-41758695 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 41758570 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Valine at position 357 (A357V)
Ref Sequence ENSEMBL: ENSMUSP00000081745 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084695] [ENSMUST00000098132] [ENSMUST00000108038] [ENSMUST00000108040] [ENSMUST00000108041] [ENSMUST00000108042]
Predicted Effect probably benign
Transcript: ENSMUST00000084695
AA Change: A357V

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000081745
Gene: ENSMUSG00000036073
AA Change: A357V

DomainStartEndE-ValueType
Pfam:GalP_UDP_transf 3 177 1.8e-68 PFAM
Pfam:GalP_UDP_tr_C 183 351 2.1e-69 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000098132
SMART Domains Protein: ENSMUSP00000095736
Gene: ENSMUSG00000073889

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108038
SMART Domains Protein: ENSMUSP00000103673
Gene: ENSMUSG00000036073

DomainStartEndE-ValueType
Pfam:GalP_UDP_transf 3 177 3.1e-69 PFAM
Pfam:GalP_UDP_tr_C 183 351 3.8e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108040
SMART Domains Protein: ENSMUSP00000103675
Gene: ENSMUSG00000073889

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108041
SMART Domains Protein: ENSMUSP00000103676
Gene: ENSMUSG00000073889

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108042
SMART Domains Protein: ENSMUSP00000103677
Gene: ENSMUSG00000073889

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
IG 33 108 5.75e-4 SMART
FN3 112 204 2.18e-2 SMART
FN3 218 304 4.93e-1 SMART
low complexity region 354 365 N/A INTRINSIC
transmembrane domain 369 391 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154275
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: The protein encoded by this gene is the second enzyme in the Leloir pathway, the metabolic pathway for D-galactose catabolism. It catalyzes the conversion of galactose-1-phosphate and uridine diphosphate-glucose to glucose-1-phosphate and uridine diphosphate galactose. Deficiency of this enzyme causes the genetic metabolic disorder galactosemia. Mice lacking this protein accumulate high levels of galactose and galactose-1 phosphate but are viable and fertile. This protein is negatively regulated through signaling by the polypeptide hormone prolactin, specifically via the short isoform of the prolactin receptor and the transcription factor Forkhead box O3. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit abnormal galactose metabolism, but lack symptoms of acute toxicity seen in humans with galactosemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110017D15Rik A T 4: 41,507,178 L206Q probably damaging Het
Abcg3 T A 5: 104,936,012 I631F probably benign Het
Baiap3 T C 17: 25,248,690 D314G probably benign Het
Ccl1 T C 11: 82,178,088 E41G possibly damaging Het
Ephx1 T C 1: 180,999,821 Y89C possibly damaging Het
Fbxw18 G A 9: 109,693,369 T144I probably damaging Het
Gfra1 T C 19: 58,263,905 probably benign Het
Hivep1 A T 13: 42,183,818 I2458L probably benign Het
Itga8 A G 2: 12,232,892 V339A possibly damaging Het
Klk1b8 T C 7: 43,954,786 I226T probably benign Het
Mfsd6 C T 1: 52,708,306 V467M probably damaging Het
Mrpl16 T C 19: 11,774,413 V179A probably benign Het
Olfr603 G A 7: 103,383,465 T179I probably damaging Het
Pnpla6 A G 8: 3,532,358 T693A possibly damaging Het
Ptpn2 A C 18: 67,675,792 I318R possibly damaging Het
Slc17a2 A G 13: 23,819,334 H285R probably benign Het
Slit2 G A 5: 47,989,151 E95K possibly damaging Het
Sptb A G 12: 76,632,477 L68P probably damaging Het
Stxbp6 G A 12: 44,861,346 T163I probably damaging Het
Tex15 A G 8: 33,579,006 probably benign Het
Tti1 T C 2: 158,008,968 E117G probably damaging Het
Ube4b T C 4: 149,352,921 probably benign Het
Wipi1 A C 11: 109,583,119 probably benign Het
Zan A T 5: 137,386,364 C5133S unknown Het
Other mutations in Galt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01150:Galt APN 4 41757786 unclassified probably benign
IGL01525:Galt APN 4 41756068 missense probably benign 0.06
IGL01720:Galt APN 4 41757463 missense probably damaging 1.00
IGL02247:Galt APN 4 41755623 intron probably benign
IGL02576:Galt APN 4 41755953 intron probably benign
R1726:Galt UTSW 4 41756001 nonsense probably null
R2085:Galt UTSW 4 41758162 missense probably damaging 1.00
R2112:Galt UTSW 4 41758245 missense probably benign
R4783:Galt UTSW 4 41758189 missense probably damaging 0.99
R6031:Galt UTSW 4 41757202 missense probably benign 0.01
R6031:Galt UTSW 4 41757202 missense probably benign 0.01
R6171:Galt UTSW 4 41757541 missense probably damaging 1.00
R6357:Galt UTSW 4 41757565 missense probably benign 0.00
Posted On2012-12-06