Incidental Mutation 'R8178:Ugdh'
ID652108
Institutional Source Beutler Lab
Gene Symbol Ugdh
Ensembl Gene ENSMUSG00000029201
Gene NameUDP-glucose dehydrogenase
SynonymsUdpgdh
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.888) question?
Stock #R8178 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location65413221-65435949 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to T at 65423662 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000118999 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031103] [ENSMUST00000031103] [ENSMUST00000131263] [ENSMUST00000131263] [ENSMUST00000196121]
Predicted Effect probably null
Transcript: ENSMUST00000031103
SMART Domains Protein: ENSMUSP00000031103
Gene: ENSMUSG00000029201

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 probably null
Transcript: ENSMUST00000031103
SMART Domains Protein: ENSMUSP00000031103
Gene: ENSMUSG00000029201

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 probably null
Transcript: ENSMUST00000131263
SMART Domains Protein: ENSMUSP00000118999
Gene: ENSMUSG00000029201

DomainStartEndE-ValueType
Pfam:UDPG_MGDP_dh_N 5 157 4e-47 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000131263
SMART Domains Protein: ENSMUSP00000118999
Gene: ENSMUSG00000029201

DomainStartEndE-ValueType
Pfam:UDPG_MGDP_dh_N 5 157 4e-47 PFAM
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 99.0%
Validation Efficiency 99% (68/69)
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921513D11Rik A G 17: 79,628,270 I276V Het
Acsm5 C A 7: 119,542,395 H538N probably damaging Het
Adamts17 A G 7: 66,849,716 I4V possibly damaging Het
Adgrg3 T C 8: 95,035,047 V146A probably damaging Het
Ankrd52 T A 10: 128,389,301 L877Q probably damaging Het
Aox3 A T 1: 58,150,322 D394V possibly damaging Het
Arhgef4 A G 1: 34,722,902 E413G unknown Het
Arhgef5 T C 6: 43,275,185 S957P probably benign Het
Arsk G T 13: 76,091,742 T114K probably damaging Het
Bpifb2 T C 2: 153,891,956 V406A probably damaging Het
Carkd A C 8: 11,511,987 K275Q probably benign Het
Cbr3 C A 16: 93,683,505 Q61K probably benign Het
Ccdc73 C T 2: 104,991,212 S502L probably benign Het
Cdhr3 A T 12: 33,048,932 probably null Het
Cep170b T A 12: 112,739,285 M1159K possibly damaging Het
Cep295 A T 9: 15,333,540 S1159T Het
Cit C T 5: 115,969,072 R1088W probably damaging Het
Col16a1 A T 4: 130,053,477 H205L unknown Het
Cpt1c T G 7: 44,959,653 H748P probably damaging Het
Dcaf8 A T 1: 172,186,319 D359V probably benign Het
Dcstamp A G 15: 39,755,026 Y277C probably damaging Het
Dnah10 A G 5: 124,755,726 K898R probably benign Het
Dnah6 T A 6: 73,060,225 T3345S probably benign Het
Dpp6 A T 5: 27,598,817 N254Y probably damaging Het
F2 A T 2: 91,630,273 probably null Het
Fam216b G C 14: 78,085,064 H67D possibly damaging Het
Fbxl17 A C 17: 63,487,972 probably null Het
Gas2 T A 7: 51,897,278 M59K probably damaging Het
Glud1 G A 14: 34,343,707 G554D probably damaging Het
Gm15448 T C 7: 3,821,261 K631R unknown Het
Gm5483 T G 16: 36,186,402 Y35* probably null Het
Gys2 C T 6: 142,456,412 G234R probably damaging Het
Hmha1 G A 10: 80,027,872 A819T probably damaging Het
Ifngr1 A G 10: 19,609,493 I413M probably benign Het
Inpp5a C T 7: 139,538,237 R236C probably damaging Het
Kcnip3 A G 2: 127,482,014 S32P probably benign Het
Lingo3 T A 10: 80,834,630 T489S possibly damaging Het
Lrpprc A G 17: 84,772,147 L227P probably damaging Het
Morn1 A G 4: 155,128,703 Q356R probably benign Het
Nbeal1 G C 1: 60,237,151 V684L probably benign Het
Nck1 A T 9: 100,497,737 W154R probably damaging Het
Olfr1109 C T 2: 87,092,876 V174M possibly damaging Het
Olfr51 T A 11: 51,007,610 C213S probably damaging Het
Olfr869 T C 9: 20,137,275 V53A possibly damaging Het
Olfr975 G A 9: 39,950,412 R120C probably benign Het
Pdxk C T 10: 78,453,504 V38M probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 probably benign Het
Pes1 T C 11: 3,977,718 S482P probably benign Het
Pglyrp1 T A 7: 18,884,732 F3I unknown Het
Plce1 T A 19: 38,772,979 F2092I possibly damaging Het
Pms1 A G 1: 53,207,346 S345P probably benign Het
Pom121l12 C A 11: 14,600,011 P239H probably damaging Het
Prdm2 A G 4: 143,132,448 I1424T probably benign Het
Prmt6 A G 3: 110,250,824 Y50H probably damaging Het
Rbm39 T C 2: 156,154,275 I397V probably benign Het
Rnf157 A G 11: 116,347,481 V519A possibly damaging Het
Sec23a T C 12: 59,007,194 E6G possibly damaging Het
Shank1 T C 7: 44,313,324 probably null Het
Slfn3 A G 11: 83,214,679 I378V probably benign Het
Smn1 T A 13: 100,130,795 probably null Het
Snd1 T C 6: 28,874,976 F632S possibly damaging Het
Sun5 T C 2: 153,856,211 probably null Het
Tial1 T C 7: 128,444,890 R209G probably benign Het
Trhde T C 10: 114,408,693 I963V possibly damaging Het
Tssc4 G T 7: 143,070,195 R80L possibly damaging Het
Ttn A T 2: 76,812,508 N13261K probably damaging Het
Vmn1r218 A T 13: 23,137,302 E273V probably benign Het
Vmn2r92 T A 17: 18,166,726 F109Y possibly damaging Het
Zcchc7 A G 4: 44,931,398 S196G probably benign Het
Zfp788 T A 7: 41,648,911 C324S probably damaging Het
Zfp976 T C 7: 42,613,535 T294A probably benign Het
Other mutations in Ugdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Ugdh APN 5 65416905 missense probably benign 0.12
IGL01734:Ugdh APN 5 65422688 missense probably benign
IGL02157:Ugdh APN 5 65422692 missense probably damaging 0.99
R1677:Ugdh UTSW 5 65423178 missense probably damaging 1.00
R1836:Ugdh UTSW 5 65420291 nonsense probably null
R1882:Ugdh UTSW 5 65423596 missense possibly damaging 0.86
R2020:Ugdh UTSW 5 65416925 missense probably damaging 1.00
R2166:Ugdh UTSW 5 65417014 splice site probably benign
R2256:Ugdh UTSW 5 65417115 splice site probably benign
R2257:Ugdh UTSW 5 65417115 splice site probably benign
R2332:Ugdh UTSW 5 65427484 missense possibly damaging 0.63
R4707:Ugdh UTSW 5 65423352 splice site probably null
R4913:Ugdh UTSW 5 65423448 critical splice donor site probably null
R5590:Ugdh UTSW 5 65422874 unclassified probably benign
R5644:Ugdh UTSW 5 65416861 missense probably benign 0.04
R5741:Ugdh UTSW 5 65427523 missense probably damaging 0.99
R6151:Ugdh UTSW 5 65417581 nonsense probably null
R6525:Ugdh UTSW 5 65417059 missense probably damaging 1.00
R6897:Ugdh UTSW 5 65427433 missense probably benign 0.07
R7155:Ugdh UTSW 5 65417037 missense probably damaging 1.00
R7692:Ugdh UTSW 5 65417615 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCTGTAAATTCAAGTTGGGCTTTG -3'
(R):5'- ACATACGGCGGCTTCTTCAC -3'

Sequencing Primer
(F):5'- ATCAAATATGCGGCGGATGCTTTC -3'
(R):5'- GCGGCTTCTTCACAGGAGTTC -3'
Posted On2020-10-15