Incidental Mutation 'R4599:Gale'
ID 345424
Institutional Source Beutler Lab
Gene Symbol Gale
Ensembl Gene ENSMUSG00000028671
Gene Name galactose-4-epimerase, UDP
MMRRC Submission 041815-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.757) question?
Stock # R4599 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 135963727-135968178 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) C to A at 135967837 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Stop codon at position 341 (S341*)
Ref Sequence ENSEMBL: ENSMUSP00000099600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067567] [ENSMUST00000102540] [ENSMUST00000102541] [ENSMUST00000105852] [ENSMUST00000143304] [ENSMUST00000149636]
AlphaFold Q8R059
Predicted Effect probably benign
Transcript: ENSMUST00000067567
SMART Domains Protein: ENSMUSP00000064204
Gene: ENSMUSG00000028670

Pfam:Abhydrolase_2 11 228 4.8e-89 PFAM
Pfam:Abhydrolase_5 26 211 2.6e-12 PFAM
Pfam:Abhydrolase_6 27 167 6.5e-13 PFAM
Pfam:Abhydrolase_3 80 170 3.1e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102540
AA Change: S341*
SMART Domains Protein: ENSMUSP00000099599
Gene: ENSMUSG00000028671
AA Change: S341*

Pfam:RmlD_sub_bind 1 194 1.9e-14 PFAM
Pfam:adh_short 2 142 4.4e-14 PFAM
Pfam:KR 3 146 3.6e-10 PFAM
Pfam:Polysacc_synt_2 4 193 8.8e-14 PFAM
Pfam:NAD_binding_10 4 213 1.1e-11 PFAM
Pfam:Epimerase 4 269 3.7e-55 PFAM
Pfam:3Beta_HSD 5 171 3.6e-18 PFAM
Pfam:NAD_binding_4 6 230 1.6e-11 PFAM
Pfam:Epimerase_Csub 282 343 3.1e-33 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000102541
AA Change: S341*
SMART Domains Protein: ENSMUSP00000099600
Gene: ENSMUSG00000028671
AA Change: S341*

Pfam:RmlD_sub_bind 1 184 3.5e-14 PFAM
Pfam:KR 3 144 9.5e-10 PFAM
Pfam:Polysacc_synt_2 4 193 7.6e-14 PFAM
Pfam:Epimerase 4 269 3.5e-54 PFAM
Pfam:3Beta_HSD 5 172 2e-18 PFAM
Pfam:GDP_Man_Dehyd 5 332 2.5e-60 PFAM
Pfam:NAD_binding_4 62 233 2.5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105852
SMART Domains Protein: ENSMUSP00000101478
Gene: ENSMUSG00000028670

Pfam:Abhydrolase_2 11 228 2.3e-92 PFAM
Pfam:Abhydrolase_5 26 211 3.1e-12 PFAM
Pfam:Abhydrolase_6 27 225 1.2e-7 PFAM
Pfam:DLH 85 223 4.8e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128929
Predicted Effect probably benign
Transcript: ENSMUST00000143304
SMART Domains Protein: ENSMUSP00000119514
Gene: ENSMUSG00000028671

Pfam:Epimerase 4 55 1.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145350
Predicted Effect probably benign
Transcript: ENSMUST00000149636
SMART Domains Protein: ENSMUSP00000117923
Gene: ENSMUSG00000028671

Pfam:Epimerase 4 58 1.3e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150430
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150978
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153542
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156948
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 T C 7: 120,255,403 V930A probably benign Het
Ankrd13b T C 11: 77,471,668 R677G probably benign Het
Apc T A 18: 34,317,987 Y2611* probably null Het
Apold1 A G 6: 134,984,069 Y162C probably damaging Het
Atp6v0a4 T C 6: 38,078,802 I325V probably benign Het
Cab39 A G 1: 85,848,329 Y249C probably damaging Het
Cd22 T A 7: 30,875,900 H239L probably damaging Het
Chrna7 A G 7: 63,103,790 M327T probably damaging Het
Clock T C 5: 76,235,810 M499V probably benign Het
Clspn A G 4: 126,581,460 E1002G probably benign Het
Clta C T 4: 44,012,819 P10S probably damaging Het
Col5a3 A G 9: 20,774,559 probably null Het
Coq6 T C 12: 84,362,139 V30A probably benign Het
Csmd2 G T 4: 127,988,128 R20L probably benign Het
D430041D05Rik A T 2: 104,208,183 V1547D probably damaging Het
Dapk1 C T 13: 60,718,047 P153S probably benign Het
Dock2 T A 11: 34,239,536 Y1545F probably damaging Het
Dpp6 G T 5: 27,634,548 G354C probably damaging Het
Dyrk1b T C 7: 28,182,431 L105P probably damaging Het
Epor A G 9: 21,961,859 S86P probably benign Het
Fam166b T C 4: 43,427,574 H250R possibly damaging Het
Galnt4 T A 10: 99,109,493 V360E probably damaging Het
Gart A T 16: 91,622,945 C24* probably null Het
Gcnt2 G T 13: 40,887,490 V42L probably benign Het
Herc6 A G 6: 57,659,713 I805V probably benign Het
Ints12 T A 3: 133,098,453 I67N probably benign Het
Irx1 C A 13: 71,960,113 R150L probably damaging Het
Kif26b A G 1: 178,530,459 Y45C unknown Het
Krt35 T C 11: 100,094,008 T275A probably damaging Het
Laptm5 G T 4: 130,916,005 probably benign Het
Lin7a T C 10: 107,412,166 S111P unknown Het
Med27 A G 2: 29,524,458 D159G probably damaging Het
Msh2 A G 17: 87,708,578 K546R probably damaging Het
Myo1a A T 10: 127,720,151 probably null Het
Myo1c T C 11: 75,668,193 F604L probably damaging Het
Myrip A G 9: 120,464,784 K782E probably damaging Het
Ndc80 T C 17: 71,521,068 D88G probably damaging Het
Nrxn2 A G 19: 6,455,252 D375G probably damaging Het
Olfr1380 T C 11: 49,564,718 S266P probably damaging Het
Olfr676 A G 7: 105,036,073 I292V probably benign Het
Padi3 T C 4: 140,798,111 H187R probably damaging Het
Pcdhgb1 A T 18: 37,681,557 N367I probably damaging Het
Pdrg1 T C 2: 153,012,390 I77V probably benign Het
Pfas T C 11: 68,991,069 E930G probably benign Het
Pik3cb C T 9: 99,061,764 R662Q probably benign Het
Pla2g4e T G 2: 120,186,382 H226P possibly damaging Het
Plxnd1 A T 6: 115,994,276 V177E probably damaging Het
Prmt7 A G 8: 106,250,329 S558G possibly damaging Het
Pspc1 A C 14: 56,777,789 probably null Het
Rilp T C 11: 75,512,760 S343P probably benign Het
Ror1 A G 4: 100,407,910 M194V probably damaging Het
Rsu1 T C 2: 13,170,004 Y225C probably damaging Het
Rundc1 A G 11: 101,433,926 N486S probably damaging Het
Sema6d T A 2: 124,654,231 I65N probably damaging Het
Slc5a11 A G 7: 123,258,378 E230G probably benign Het
Spint1 T C 2: 119,246,460 S342P probably damaging Het
Stard3nl A G 13: 19,367,753 S214P probably damaging Het
Tcp10a A C 17: 7,336,924 T271P probably damaging Het
Tie1 A G 4: 118,472,634 Y1091H probably benign Het
Tlr12 T C 4: 128,617,332 Y375C probably benign Het
Tmem107 T A 11: 69,071,448 M77K probably damaging Het
Tns2 C T 15: 102,108,934 R281C probably damaging Het
Tns3 T C 11: 8,531,747 K202E probably damaging Het
Tspoap1 C T 11: 87,779,521 P1634L probably damaging Het
Ttc7b G A 12: 100,500,117 R79C probably damaging Het
Ush2a A G 1: 188,911,647 N4402S probably benign Het
Vmn2r13 A T 5: 109,156,456 I703N probably damaging Het
Xrcc4 A G 13: 90,062,007 probably null Het
Zp3 A T 5: 135,984,235 K168* probably null Het
Other mutations in Gale
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01080:Gale APN 4 135966078 missense probably damaging 1.00
IGL02223:Gale APN 4 135966506 missense probably damaging 1.00
IGL02893:Gale APN 4 135967602 missense probably benign 0.02
R4598:Gale UTSW 4 135967837 nonsense probably null
R4993:Gale UTSW 4 135966860 missense probably damaging 1.00
R6226:Gale UTSW 4 135965605 missense possibly damaging 0.57
R7151:Gale UTSW 4 135967192 missense probably damaging 0.98
R7944:Gale UTSW 4 135965671 missense probably damaging 1.00
R8523:Gale UTSW 4 135967676 missense probably benign
R9478:Gale UTSW 4 135965263 start gained probably benign
R9764:Gale UTSW 4 135965664 nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-09-25