Incidental Mutation 'R6031:Galt'
ID 486259
Institutional Source Beutler Lab
Gene Symbol Galt
Ensembl Gene ENSMUSG00000036073
Gene Name galactose-1-phosphate uridyl transferase
Synonyms
MMRRC Submission 044203-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.270) question?
Stock # R6031 (G1)
Quality Score 225.009
Status Not validated
Chromosome 4
Chromosomal Location 41755228-41758695 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 41757202 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glutamine at position 185 (R185Q)
Ref Sequence ENSEMBL: ENSMUSP00000103673 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084695] [ENSMUST00000098132] [ENSMUST00000108038] [ENSMUST00000108040] [ENSMUST00000108041]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000084695
AA Change: R185Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000081745
Gene: ENSMUSG00000036073
AA Change: R185Q

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
AA Change: R185Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000103673
Gene: ENSMUSG00000036073
AA Change: R185Q

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 noncoding transcript
Transcript: ENSMUST00000123524
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151490
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133590
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133106
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147719
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146608
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135734
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130698
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132760
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154275
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.6%
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700010I14Rik T C 17: 9,214,084 (GRCm39) Y304H possibly damaging Het
Add2 A G 6: 86,075,655 (GRCm39) E268G probably damaging Het
Akr1b1 A C 6: 34,289,609 (GRCm39) V67G probably benign Het
Alms1 A T 6: 85,599,937 (GRCm39) N1588Y probably damaging Het
Arhgap23 A T 11: 97,366,965 (GRCm39) D1082V probably damaging Het
Asb6 A G 2: 30,714,207 (GRCm39) V301A probably benign Het
Ascc3 C T 10: 50,718,279 (GRCm39) R1991* probably null Het
Atg7 T A 6: 114,648,194 (GRCm39) C31S probably benign Het
Camsap2 A T 1: 136,208,176 (GRCm39) N1105K possibly damaging Het
Ccdc125 C T 13: 100,820,877 (GRCm39) probably null Het
Ccdc63 T C 5: 122,267,799 (GRCm39) I56V possibly damaging Het
Cpd T C 11: 76,681,714 (GRCm39) E1143G probably benign Het
Cpt1a T A 19: 3,421,556 (GRCm39) probably null Het
Creb3l2 A T 6: 37,311,369 (GRCm39) D473E probably benign Het
Disp2 G T 2: 118,620,275 (GRCm39) V336L probably benign Het
Efr3b A G 12: 4,017,106 (GRCm39) I782T possibly damaging Het
Fam98a A G 17: 75,846,427 (GRCm39) V230A probably damaging Het
Fat3 T A 9: 15,899,788 (GRCm39) T3082S probably benign Het
Frmd3 T C 4: 74,105,688 (GRCm39) Y445H probably damaging Het
Gatb T C 3: 85,520,818 (GRCm39) I309T possibly damaging Het
Gfi1b G A 2: 28,503,820 (GRCm39) Q127* probably null Het
Gfpt1 C A 6: 87,063,302 (GRCm39) T563N probably damaging Het
Gria1 A G 11: 57,108,608 (GRCm39) D237G probably damaging Het
Hspbp1 A T 7: 4,666,465 (GRCm39) V305D probably benign Het
Hyls1 G A 9: 35,472,480 (GRCm39) S312F probably benign Het
Iars1 T C 13: 49,859,307 (GRCm39) V9A probably damaging Het
Ipo4 G A 14: 55,869,596 (GRCm39) P355S probably damaging Het
Jade2 G T 11: 51,717,413 (GRCm39) C314* probably null Het
Kri1 T C 9: 21,186,565 (GRCm39) E597G probably benign Het
Mcub A G 3: 129,720,038 (GRCm39) Y152H probably damaging Het
Med23 C T 10: 24,779,646 (GRCm39) R542* probably null Het
Ndc80 T C 17: 71,818,483 (GRCm39) N291S probably benign Het
Nop2 T C 6: 125,110,529 (GRCm39) probably null Het
Nrxn1 T C 17: 90,896,218 (GRCm39) N984S probably damaging Het
Ntm A C 9: 28,920,671 (GRCm39) L86R probably damaging Het
Numa1 T A 7: 101,661,219 (GRCm39) D1847E possibly damaging Het
Odf2l A G 3: 144,845,624 (GRCm39) Q334R probably damaging Het
Or10ak11 A T 4: 118,687,588 (GRCm39) probably null Het
Or2ag2 C T 7: 106,485,134 (GRCm39) V297I possibly damaging Het
Or4a39 T A 2: 89,237,316 (GRCm39) T36S probably damaging Het
Or5ac17 T C 16: 59,036,296 (GRCm39) R227G probably benign Het
Or6ae1 A T 7: 139,742,722 (GRCm39) V47E possibly damaging Het
Or6c203 A G 10: 129,010,224 (GRCm39) V222A probably benign Het
Pacc1 A G 1: 191,073,037 (GRCm39) R153G probably benign Het
Pcdhb19 A T 18: 37,630,776 (GRCm39) K190N probably damaging Het
Pdik1l A G 4: 134,006,352 (GRCm39) F197L probably damaging Het
Rnf113a2 T C 12: 84,464,764 (GRCm39) F219L probably damaging Het
Rnf208 A C 2: 25,133,776 (GRCm39) T157P probably damaging Het
RP23-145I16.3 A T 7: 141,930,451 (GRCm39) C364S probably damaging Het
Scn8a A T 15: 100,881,865 (GRCm39) D644V probably damaging Het
Thbs3 T A 3: 89,125,401 (GRCm39) C204S probably damaging Het
Tlr3 A G 8: 45,851,565 (GRCm39) I444T probably damaging Het
Trpm8 A T 1: 88,282,191 (GRCm39) I696F possibly damaging Het
Ttn A T 2: 76,660,941 (GRCm39) V7422D possibly damaging Het
Ufl1 A G 4: 25,278,038 (GRCm39) V139A probably benign Het
Uggt2 A T 14: 119,308,238 (GRCm39) V381D probably benign Het
Vgll3 T A 16: 65,636,367 (GRCm39) Y173N probably damaging Het
Vmn1r9 A G 6: 57,048,158 (GRCm39) T78A probably benign Het
Vps13b T A 15: 35,472,114 (GRCm39) L806M probably damaging Het
Vps13d A C 4: 144,895,079 (GRCm39) H394Q probably benign Het
Wdr53 T A 16: 32,075,536 (GRCm39) V247D probably damaging Het
Wdr81 A T 11: 75,338,695 (GRCm39) L1488Q probably damaging Het
Zc3h6 A G 2: 128,809,732 (GRCm39) D3G possibly damaging Het
Zfp93 G T 7: 23,975,725 (GRCm39) C570F probably damaging Het
Zfp943 C T 17: 22,212,357 (GRCm39) T481I probably benign Het
Other mutations in Galt
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00820:Galt APN 4 41,758,570 (GRCm39) missense probably benign 0.02
IGL01150:Galt APN 4 41,757,786 (GRCm39) unclassified probably benign
IGL01525:Galt APN 4 41,756,068 (GRCm39) missense probably benign 0.06
IGL01720:Galt APN 4 41,757,463 (GRCm39) missense probably damaging 1.00
IGL02247:Galt APN 4 41,755,623 (GRCm39) intron probably benign
IGL02576:Galt APN 4 41,755,953 (GRCm39) intron probably benign
PIT4802001:Galt UTSW 4 41,756,764 (GRCm39) missense probably damaging 1.00
R1726:Galt UTSW 4 41,756,001 (GRCm39) nonsense probably null
R2085:Galt UTSW 4 41,758,162 (GRCm39) missense probably damaging 1.00
R2112:Galt UTSW 4 41,758,245 (GRCm39) missense probably benign
R4783:Galt UTSW 4 41,758,189 (GRCm39) missense probably damaging 0.99
R6031:Galt UTSW 4 41,757,202 (GRCm39) missense probably benign 0.01
R6171:Galt UTSW 4 41,757,541 (GRCm39) missense probably damaging 1.00
R6357:Galt UTSW 4 41,757,565 (GRCm39) missense probably benign 0.00
R7233:Galt UTSW 4 41,758,267 (GRCm39) missense probably benign 0.04
R7410:Galt UTSW 4 41,757,707 (GRCm39) missense possibly damaging 0.47
R8157:Galt UTSW 4 41,757,226 (GRCm39) missense probably benign 0.33
R9090:Galt UTSW 4 41,756,777 (GRCm39) missense probably benign 0.01
R9271:Galt UTSW 4 41,756,777 (GRCm39) missense probably benign 0.01
R9473:Galt UTSW 4 41,757,575 (GRCm39) missense probably benign
R9745:Galt UTSW 4 41,758,185 (GRCm39) missense possibly damaging 0.70
Predicted Primers PCR Primer
(F):5'- TGCCAGGCAAGTATGTGAC -3'
(R):5'- AGGCTCTCACTAGCACCTAC -3'

Sequencing Primer
(F):5'- CAAGTATGTGACAGGCCTTAATG -3'
(R):5'- GCTCTCACTAGCACCTACCCTAAG -3'
Posted On 2017-08-16