Incidental Mutation 'IGL01734:Ugdh'
ID105636
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ugdh
Ensembl Gene ENSMUSG00000029201
Gene NameUDP-glucose dehydrogenase
SynonymsUdpgdh
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.858) question?
Stock #IGL01734
Quality Score
Status
Chromosome5
Chromosomal Location65413221-65435949 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 65422688 bp
ZygosityHeterozygous
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]
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: 118,861,466 W210R possibly damaging Het
Aknad1 T C 3: 108,751,901 M77T probably benign Het
Aox2 A T 1: 58,354,310 I1210F possibly damaging Het
Brd8 A T 18: 34,614,805 probably benign Het
Cdh23 T C 10: 60,303,513 D3307G probably benign Het
Chsy1 T C 7: 66,171,310 I431T probably damaging Het
Cobl A G 11: 12,254,980 probably benign Het
Col28a1 T C 6: 8,158,134 D308G probably damaging Het
Csmd3 A G 15: 48,185,304 Y568H probably damaging Het
Dmrt3 T C 19: 25,622,583 I264T probably damaging Het
Dusp22 G T 13: 30,696,252 C52F probably damaging Het
Fbxw22 A C 9: 109,383,925 M318R probably damaging Het
Ffar4 C T 19: 38,113,847 T310M probably damaging Het
Fn1 A G 1: 71,619,485 V1138A probably damaging Het
Glt6d1 T A 2: 25,794,493 Y167F probably benign Het
Hydin T A 8: 110,490,789 Y1436* probably null Het
Il12a G A 3: 68,691,555 C2Y possibly damaging Het
Inpp5a T C 7: 139,454,090 Y38H possibly damaging Het
Jmy A C 13: 93,459,651 L490R probably damaging Het
Kif26a T A 12: 112,176,828 L1172H probably benign Het
Kmo A T 1: 175,655,102 M331L probably benign Het
Lonp1 G A 17: 56,616,026 T627M probably damaging Het
Lrrc41 T C 4: 116,093,134 probably null Het
Mast4 A T 13: 102,737,615 S1556R probably damaging Het
Mmel1 A G 4: 154,891,951 N490S probably benign Het
Mpped2 A G 2: 106,783,813 D164G probably damaging Het
Nap1l1 A G 10: 111,492,899 T230A probably benign Het
Nrap C A 19: 56,350,309 A913S probably damaging Het
Nudt16 G T 9: 105,131,508 Q65K probably benign Het
Olfr1039 T A 2: 86,131,668 probably benign Het
Olfr199 T G 16: 59,216,429 L61F probably benign Het
Olfr201 T A 16: 59,268,850 K272N probably benign Het
Olfr382 C A 11: 73,516,636 A188S probably benign Het
Olfr813 T A 10: 129,856,802 C95S probably benign Het
Parp14 A G 16: 35,858,600 F333L probably benign Het
Pi4ka G T 16: 17,297,260 Q1422K probably benign Het
Polr3c T C 3: 96,713,520 E494G probably damaging Het
Prss42 C A 9: 110,798,343 P49Q probably benign Het
Ptpra C T 2: 130,544,077 T568I probably damaging Het
Ring1 T C 17: 34,023,320 D71G probably damaging Het
Siae T A 9: 37,631,486 S193T probably damaging Het
Slf2 T C 19: 44,973,267 probably null Het
Spinkl T A 18: 44,174,572 K7N possibly damaging Het
Tbk1 G A 10: 121,571,983 R82* probably null Het
Tcf12 T C 9: 71,922,648 probably null Het
Tcl1b5 G A 12: 105,178,955 M59I probably benign Het
Thumpd3 C A 6: 113,066,845 T407K probably damaging Het
Timm29 T C 9: 21,593,735 V233A probably damaging Het
Tns3 A G 11: 8,519,192 probably benign Het
Ubash3b T C 9: 41,026,247 probably benign Het
Zfp143 T A 7: 110,072,209 probably benign Het
Zfp738 A G 13: 67,683,444 probably benign Het
Other mutations in Ugdh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01630:Ugdh APN 5 65416905 missense probably benign 0.12
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 unclassified 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
Posted On2014-01-21