Incidental Mutation 'R1882:Ugdh'
ID 209173
Institutional Source Beutler Lab
Gene Symbol Ugdh
Ensembl Gene ENSMUSG00000029201
Gene Name UDP-glucose dehydrogenase
Synonyms Udpgdh
MMRRC Submission 039903-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.885) question?
Stock # R1882 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 65570550-65593185 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65580939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 107 (K107E)
Ref Sequence ENSEMBL: ENSMUSP00000031103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031103] [ENSMUST00000131263] [ENSMUST00000196121]
AlphaFold O70475
Predicted Effect possibly damaging
Transcript: ENSMUST00000031103
AA Change: K107E

PolyPhen 2 Score 0.862 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000031103
Gene: ENSMUSG00000029201
AA Change: K107E

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 possibly damaging
Transcript: ENSMUST00000131263
AA Change: K107E

PolyPhen 2 Score 0.686 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000118999
Gene: ENSMUSG00000029201
AA Change: K107E

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
Meta Mutation Damage Score 0.1378 question?
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.9%
  • 10x: 95.6%
  • 20x: 93.5%
Validation Efficiency 100% (59/59)
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 T C 19: 43,786,945 (GRCm39) S189P probably benign Het
Adgrg3 G T 8: 95,766,943 (GRCm39) V433F probably benign Het
Arhgap33 A T 7: 30,222,234 (GRCm39) W1233R probably damaging Het
Brf2 T C 8: 27,618,577 (GRCm39) D9G probably damaging Het
Btrc G A 19: 45,515,839 (GRCm39) R562Q probably damaging Het
Cenpu T C 8: 47,009,225 (GRCm39) F67L probably damaging Het
Chia1 T C 3: 106,035,790 (GRCm39) M150T probably damaging Het
Cntln A G 4: 85,019,072 (GRCm39) E1254G probably damaging Het
Creld1 G A 6: 113,469,166 (GRCm39) C332Y probably damaging Het
Ctla2a A G 13: 61,083,355 (GRCm39) probably benign Het
Dusp13b A T 14: 21,785,043 (GRCm39) D223E probably benign Het
Ext1 C A 15: 52,939,188 (GRCm39) L620F probably damaging Het
H2-DMb2 C T 17: 34,366,834 (GRCm39) R89C probably damaging Het
Klhl32 A T 4: 24,743,916 (GRCm39) L17* probably null Het
Lats2 C T 14: 57,934,811 (GRCm39) V640M probably damaging Het
Lrig3 G A 10: 125,845,694 (GRCm39) V708I possibly damaging Het
Mtcl1 T C 17: 66,686,315 (GRCm39) T415A probably benign Het
Mynn A G 3: 30,670,962 (GRCm39) *611W probably null Het
Nfx1 A G 4: 41,009,240 (GRCm39) T793A possibly damaging Het
Nlrp4d T C 7: 10,116,604 (GRCm39) noncoding transcript Het
Nos3 T C 5: 24,573,818 (GRCm39) V194A probably damaging Het
Npc1l1 C T 11: 6,167,473 (GRCm39) probably null Het
Nrg2 T C 18: 36,154,150 (GRCm39) D589G probably damaging Het
Omg C T 11: 79,392,545 (GRCm39) probably benign Het
Or10v9 T C 19: 11,832,835 (GRCm39) T161A probably damaging Het
Or14j5 T C 17: 38,161,839 (GRCm39) S119P probably damaging Het
Or2y17 A G 11: 49,231,539 (GRCm39) Y60C probably damaging Het
Or8k16 T A 2: 85,519,950 (GRCm39) M59K probably damaging Het
P2ry2 G T 7: 100,648,058 (GRCm39) Y82* probably null Het
Pcdh1 T C 18: 38,335,895 (GRCm39) T247A possibly damaging Het
Pecr A T 1: 72,314,136 (GRCm39) probably null Het
Pgm3 A G 9: 86,447,743 (GRCm39) Y167H possibly damaging Het
Pramel15 A T 4: 144,103,485 (GRCm39) C214S probably benign Het
Prmt2 T C 10: 76,058,302 (GRCm39) H169R probably benign Het
Rad51ap2 T A 12: 11,506,251 (GRCm39) S58T possibly damaging Het
Rbpms2 ACTGCTGCTGCTGCTGC ACTGCTGCTGCTGCTGCTGC 9: 65,558,948 (GRCm39) probably benign Het
Slc6a15 T C 10: 103,230,925 (GRCm39) S217P probably benign Het
Slco1a8 C A 6: 141,939,363 (GRCm39) probably null Het
Snx27 G A 3: 94,426,416 (GRCm39) T361I probably damaging Het
St7l A G 3: 104,775,363 (GRCm39) T80A probably damaging Het
Stk32b T A 5: 37,689,031 (GRCm39) M98L possibly damaging Het
Tonsl C A 15: 76,508,350 (GRCm39) A6S possibly damaging Het
Tpx2 A G 2: 152,711,611 (GRCm39) R49G probably benign Het
Trmt2a A G 16: 18,067,758 (GRCm39) K144E possibly damaging Het
Trpm7 A C 2: 126,654,697 (GRCm39) L1414V probably benign Het
Vamp3 A T 4: 151,135,366 (GRCm39) probably benign Het
Vmn1r172 T C 7: 23,359,651 (GRCm39) S179P probably damaging Het
Vmn1r28 A G 6: 58,242,963 (GRCm39) M269V probably benign Het
Vmn2r94 T C 17: 18,464,476 (GRCm39) T605A probably benign Het
Vwce A G 19: 10,615,520 (GRCm39) T134A possibly damaging Het
Zfp277 T C 12: 40,495,745 (GRCm39) E5G probably benign Het
Other mutations in Ugdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Ugdh APN 5 65,574,248 (GRCm39) missense probably benign 0.12
IGL01734:Ugdh APN 5 65,580,031 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- TGAATTGTGGCTTGACCTAAGAAG -3'
(R):5'- ATACGGCGGCTTCTTCACAG -3'

Sequencing Primer
(F):5'- TGGCTTGACCTAAGAAGAAGAATTAG -3'
(R):5'- GCGGCTTCTTCACAGGAGTTC -3'
Posted On 2014-06-30