Incidental Mutation 'IGL01080:Gale'
ID50865
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gale
Ensembl Gene ENSMUSG00000028671
Gene Namegalactose-4-epimerase, UDP
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.757) question?
Stock #IGL01080
Quality Score
Status
Chromosome4
Chromosomal Location135963727-135968178 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 135966078 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 104 (Y104H)
Ref Sequence ENSEMBL: ENSMUSP00000099600 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030432] [ENSMUST00000067567] [ENSMUST00000102540] [ENSMUST00000102541] [ENSMUST00000105852] [ENSMUST00000143304] [ENSMUST00000149636]
Predicted Effect probably benign
Transcript: ENSMUST00000030432
SMART Domains Protein: ENSMUSP00000030432
Gene: ENSMUSG00000028672

DomainStartEndE-ValueType
Pfam:HMGL-like 32 306 2.4e-73 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000067567
SMART Domains Protein: ENSMUSP00000064204
Gene: ENSMUSG00000028670

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000102540
AA Change: Y104H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099599
Gene: ENSMUSG00000028671
AA Change: Y104H

DomainStartEndE-ValueType
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 damaging
Transcript: ENSMUST00000102541
AA Change: Y104H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099600
Gene: ENSMUSG00000028671
AA Change: Y104H

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000135644
Predicted Effect probably benign
Transcript: ENSMUST00000143304
SMART Domains Protein: ENSMUSP00000119514
Gene: ENSMUSG00000028671

DomainStartEndE-ValueType
Pfam:Epimerase 4 55 1.2e-8 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145350
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148613
Predicted Effect probably benign
Transcript: ENSMUST00000149636
SMART Domains Protein: ENSMUSP00000117923
Gene: ENSMUSG00000028671

DomainStartEndE-ValueType
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
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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb4 A T 5: 8,934,258 R663W probably damaging Het
Cacng5 A T 11: 107,877,928 F179L probably damaging Het
Cacng5 C T 11: 107,881,705 V106I probably benign Het
Cd96 T C 16: 46,049,693 E471G possibly damaging Het
Cpt1c T C 7: 44,960,909 D621G probably damaging Het
Csmd3 T C 15: 47,881,403 I1503V probably benign Het
Dmgdh T C 13: 93,703,778 probably benign Het
Flg A T 3: 93,279,599 K119N probably benign Het
Gm8005 T C 14: 42,437,014 D119G unknown Het
Gstk1 A T 6: 42,246,626 D50V possibly damaging Het
Kmt2a T C 9: 44,809,092 D3866G unknown Het
Mastl A G 2: 23,146,148 S119P probably damaging Het
Olfr169 A T 16: 19,566,208 V225E probably damaging Het
Phf11c G A 14: 59,393,199 T19I probably benign Het
Ppp1r16b A G 2: 158,757,172 T355A probably damaging Het
Prmt7 T G 8: 106,237,214 probably benign Het
Rad50 T C 11: 53,706,068 T44A probably damaging Het
Rangap1 C T 15: 81,705,752 probably benign Het
Slc27a3 A T 3: 90,385,460 V634E probably benign Het
Tbxas1 T A 6: 39,021,181 L228I probably damaging Het
Tnfaip3 T C 10: 19,011,655 K41E probably benign Het
Tti1 C T 2: 157,982,459 V1025I probably damaging Het
Tyrobp T C 7: 30,417,416 probably null Het
Wfdc16 A T 2: 164,638,486 W30R probably damaging Het
Zyg11b A T 4: 108,237,416 L657Q probably damaging Het
Other mutations in Gale
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4599: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
Posted On2013-06-21