Incidental Mutation 'IGL01734:Ugdh'
ID 105636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugdh
Ensembl Gene ENSMUSG00000029201
Gene Name UDP-glucose dehydrogenase
Synonyms Udpgdh
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # IGL01734
Quality Score
Status
Chromosome 5
Chromosomal Location 65570550-65593185 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 65580031 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 253 (T253K)
Ref Sequence ENSEMBL: ENSMUSP00000031103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031103] [ENSMUST00000131263] [ENSMUST00000196121]
AlphaFold O70475
Predicted Effect probably benign
Transcript: ENSMUST00000031103
AA Change: T253K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000031103
Gene: ENSMUSG00000029201
AA Change: T253K

DomainStartEndE-ValueType
Pfam:UDPG_MGDP_dh_N 5 195 1.5e-63 PFAM
Pfam:UDPG_MGDP_dh 214 309 1.8e-34 PFAM
UDPG_MGDP_dh_C 332 447 1.89e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125375
Predicted Effect probably benign
Transcript: ENSMUST00000131263
SMART Domains Protein: ENSMUSP00000118999
Gene: ENSMUSG00000029201

DomainStartEndE-ValueType
Pfam:UDPG_MGDP_dh_N 5 157 4e-47 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139402
Predicted Effect probably benign
Transcript: ENSMUST00000196121
SMART Domains Protein: ENSMUSP00000143665
Gene: ENSMUSG00000105835

DomainStartEndE-ValueType
Pfam:UDPG_MGDP_dh_N 5 50 6.4e-13 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene converts UDP-glucose to UDP-glucuronate and thereby participates in the biosynthesis of glycosaminoglycans such as hyaluronan, chondroitin sulfate, and heparan sulfate. These glycosylated compounds are common components of the extracellular matrix and likely play roles in signal transduction, cell migration, and cancer growth and metastasis. The expression of this gene is up-regulated by transforming growth factor beta and down-regulated by hypoxia. Alternative splicing results in multiple transcript variants.[provided by RefSeq, May 2010]
PHENOTYPE: Mutation of this gene results in developmental arrest during gastrulation with defects in endoderm and mesoderm migration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932442E05Rik T A 10: 118,697,371 (GRCm39) W210R possibly damaging Het
Aknad1 T C 3: 108,659,217 (GRCm39) M77T probably benign Het
Aox1 A T 1: 58,393,469 (GRCm39) I1210F possibly damaging Het
Brd8 A T 18: 34,747,858 (GRCm39) probably benign Het
Cdh23 T C 10: 60,139,292 (GRCm39) D3307G probably benign Het
Chsy1 T C 7: 65,821,058 (GRCm39) I431T probably damaging Het
Cobl A G 11: 12,204,980 (GRCm39) probably benign Het
Col28a1 T C 6: 8,158,134 (GRCm39) D308G probably damaging Het
Csmd3 A G 15: 48,048,700 (GRCm39) Y568H probably damaging Het
Dmrt3 T C 19: 25,599,947 (GRCm39) I264T probably damaging Het
Dusp22 G T 13: 30,880,235 (GRCm39) C52F probably damaging Het
Fbxw22 A C 9: 109,212,993 (GRCm39) M318R probably damaging Het
Ffar4 C T 19: 38,102,295 (GRCm39) T310M probably damaging Het
Fn1 A G 1: 71,658,644 (GRCm39) V1138A probably damaging Het
Glt6d1 T A 2: 25,684,505 (GRCm39) Y167F probably benign Het
Hydin T A 8: 111,217,421 (GRCm39) Y1436* probably null Het
Il12a G A 3: 68,598,888 (GRCm39) C2Y possibly damaging Het
Inpp5a T C 7: 139,034,006 (GRCm39) Y38H possibly damaging Het
Jmy A C 13: 93,596,159 (GRCm39) L490R probably damaging Het
Kif26a T A 12: 112,143,262 (GRCm39) L1172H probably benign Het
Kmo A T 1: 175,482,668 (GRCm39) M331L probably benign Het
Lonp1 G A 17: 56,923,026 (GRCm39) T627M probably damaging Het
Lrrc41 T C 4: 115,950,331 (GRCm39) probably null Het
Mast4 A T 13: 102,874,123 (GRCm39) S1556R probably damaging Het
Mmel1 A G 4: 154,976,408 (GRCm39) N490S probably benign Het
Mpped2 A G 2: 106,614,158 (GRCm39) D164G probably damaging Het
Nap1l1 A G 10: 111,328,760 (GRCm39) T230A probably benign Het
Nrap C A 19: 56,338,741 (GRCm39) A913S probably damaging Het
Nudt16 G T 9: 105,008,707 (GRCm39) Q65K probably benign Het
Or1e23 C A 11: 73,407,462 (GRCm39) A188S probably benign Het
Or5ac17 T G 16: 59,036,792 (GRCm39) L61F probably benign Het
Or5ac19 T A 16: 59,089,213 (GRCm39) K272N probably benign Het
Or5al5 T A 2: 85,962,012 (GRCm39) probably benign Het
Or6c76b T A 10: 129,692,671 (GRCm39) C95S probably benign Het
Parp14 A G 16: 35,678,970 (GRCm39) F333L probably benign Het
Pi4ka G T 16: 17,115,124 (GRCm39) Q1422K probably benign Het
Polr3c T C 3: 96,620,836 (GRCm39) E494G probably damaging Het
Prss42 C A 9: 110,627,411 (GRCm39) P49Q probably benign Het
Ptpra C T 2: 130,385,997 (GRCm39) T568I probably damaging Het
Ring1 T C 17: 34,242,294 (GRCm39) D71G probably damaging Het
Siae T A 9: 37,542,782 (GRCm39) S193T probably damaging Het
Slf2 T C 19: 44,961,706 (GRCm39) probably null Het
Spinkl T A 18: 44,307,639 (GRCm39) K7N possibly damaging Het
Tbk1 G A 10: 121,407,888 (GRCm39) R82* probably null Het
Tcf12 T C 9: 71,829,930 (GRCm39) probably null Het
Tcl1b5 G A 12: 105,145,214 (GRCm39) M59I probably benign Het
Thumpd3 C A 6: 113,043,806 (GRCm39) T407K probably damaging Het
Timm29 T C 9: 21,505,031 (GRCm39) V233A probably damaging Het
Tns3 A G 11: 8,469,192 (GRCm39) probably benign Het
Ubash3b T C 9: 40,937,543 (GRCm39) probably benign Het
Zfp143 T A 7: 109,671,416 (GRCm39) probably benign Het
Zfp738 A G 13: 67,831,563 (GRCm39) probably benign Het
Other mutations in Ugdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Ugdh APN 5 65,574,248 (GRCm39) missense probably benign 0.12
IGL02157:Ugdh APN 5 65,580,035 (GRCm39) missense probably damaging 0.99
R1677:Ugdh UTSW 5 65,580,521 (GRCm39) missense probably damaging 1.00
R1836:Ugdh UTSW 5 65,577,634 (GRCm39) nonsense probably null
R1882:Ugdh UTSW 5 65,580,939 (GRCm39) missense possibly damaging 0.86
R2020:Ugdh UTSW 5 65,574,268 (GRCm39) missense probably damaging 1.00
R2166:Ugdh UTSW 5 65,574,357 (GRCm39) splice site probably benign
R2256:Ugdh UTSW 5 65,574,458 (GRCm39) splice site probably benign
R2257:Ugdh UTSW 5 65,574,458 (GRCm39) splice site probably benign
R2332:Ugdh UTSW 5 65,584,827 (GRCm39) missense possibly damaging 0.63
R4707:Ugdh UTSW 5 65,580,695 (GRCm39) splice site probably null
R4913:Ugdh UTSW 5 65,580,791 (GRCm39) critical splice donor site probably null
R5590:Ugdh UTSW 5 65,580,217 (GRCm39) unclassified probably benign
R5644:Ugdh UTSW 5 65,574,204 (GRCm39) missense probably benign 0.04
R5741:Ugdh UTSW 5 65,584,866 (GRCm39) missense probably damaging 0.99
R6151:Ugdh UTSW 5 65,574,924 (GRCm39) nonsense probably null
R6525:Ugdh UTSW 5 65,574,402 (GRCm39) missense probably damaging 1.00
R6897:Ugdh UTSW 5 65,584,776 (GRCm39) missense probably benign 0.07
R7155:Ugdh UTSW 5 65,574,380 (GRCm39) missense probably damaging 1.00
R7692:Ugdh UTSW 5 65,574,958 (GRCm39) missense probably damaging 1.00
R8178:Ugdh UTSW 5 65,581,005 (GRCm39) splice site probably null
R8485:Ugdh UTSW 5 65,584,902 (GRCm39) missense possibly damaging 0.50
R9361:Ugdh UTSW 5 65,575,886 (GRCm39) missense probably damaging 1.00
R9565:Ugdh UTSW 5 65,575,876 (GRCm39) missense possibly damaging 0.91
R9678:Ugdh UTSW 5 65,581,470 (GRCm39) missense possibly damaging 0.89
Posted On 2014-01-21