Incidental Mutation 'IGL02330:Uap1'
ID288630
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uap1
Ensembl Gene ENSMUSG00000026670
Gene NameUDP-N-acetylglucosamine pyrophosphorylase 1
SynonymsESTM38, SPAG2, AgX, AGX1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.659) question?
Stock #IGL02330
Quality Score
Status
Chromosome1
Chromosomal Location170141938-170174957 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 170150327 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 385 (I385N)
Ref Sequence ENSEMBL: ENSMUSP00000106982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027981] [ENSMUST00000111350] [ENSMUST00000111351]
Predicted Effect possibly damaging
Transcript: ENSMUST00000027981
AA Change: I385N

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000027981
Gene: ENSMUSG00000026670
AA Change: I385N

DomainStartEndE-ValueType
Pfam:UDPGP 44 471 2e-128 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111350
AA Change: I385N

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106982
Gene: ENSMUSG00000026670
AA Change: I385N

DomainStartEndE-ValueType
Pfam:UDPGP 44 467 5.3e-124 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111351
AA Change: I385N

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106983
Gene: ENSMUSG00000026670
AA Change: I385N

DomainStartEndE-ValueType
Pfam:UDPGP 45 472 4.6e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162253
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam29 A T 8: 55,872,363 I352K probably benign Het
Atp8a1 T C 5: 67,813,177 N73S probably damaging Het
Cilp T C 9: 65,274,522 probably benign Het
Csf2rb2 C T 15: 78,285,128 G500D possibly damaging Het
Cyp4a14 A C 4: 115,495,027 probably benign Het
Dagla T G 19: 10,248,022 D926A probably damaging Het
Ddr2 T A 1: 169,988,524 Y538F probably damaging Het
Eng T A 2: 32,669,569 probably null Het
Fbxo24 G T 5: 137,621,317 L99M probably damaging Het
Fmn2 A G 1: 174,609,945 S1161G probably benign Het
Foxp1 T C 6: 98,945,412 N453D probably damaging Het
Fut8 A G 12: 77,450,243 D409G probably damaging Het
Hmces A G 6: 87,914,535 H8R probably damaging Het
Ing3 T C 6: 21,952,121 C44R probably benign Het
Itga1 T A 13: 115,012,204 I294F probably damaging Het
Mov10l1 T A 15: 89,026,490 S976T probably damaging Het
Myo15 A G 11: 60,477,161 Y249C possibly damaging Het
Nop56 T C 2: 130,276,766 S273P probably damaging Het
Olfr50 C T 2: 36,793,895 H220Y probably benign Het
Olfr514 A T 7: 108,825,999 probably benign Het
Otog C T 7: 46,288,069 S1734F possibly damaging Het
Phc3 T G 3: 30,936,381 E562D probably damaging Het
Ralb A T 1: 119,471,720 C203S probably damaging Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Sf3b4 A T 3: 96,173,060 T42S possibly damaging Het
Sgsm2 T C 11: 74,858,667 T584A probably benign Het
Slco5a1 T C 1: 12,939,060 K397R probably damaging Het
Trim30c A G 7: 104,382,958 Y299H possibly damaging Het
Trip6 T C 5: 137,313,358 D119G probably benign Het
Vmn1r123 T A 7: 21,163,044 I287N probably damaging Het
Vwce T C 19: 10,646,801 L352P possibly damaging Het
Xrn1 T A 9: 95,973,348 Y260* probably null Het
Zfp738 T C 13: 67,671,431 Y147C probably damaging Het
Other mutations in Uap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02170:Uap1 APN 1 170166712 missense probably benign 0.22
IGL03383:Uap1 APN 1 170158891 missense probably damaging 1.00
R0382:Uap1 UTSW 1 170161482 missense probably benign 0.00
R0696:Uap1 UTSW 1 170149274 missense probably benign 0.23
R1055:Uap1 UTSW 1 170156911 splice site probably benign
R1463:Uap1 UTSW 1 170150383 missense probably benign
R1522:Uap1 UTSW 1 170150941 critical splice donor site probably null
R2257:Uap1 UTSW 1 170158743 splice site probably benign
R4061:Uap1 UTSW 1 170158846 missense possibly damaging 0.71
R4533:Uap1 UTSW 1 170143425 missense probably damaging 1.00
R5068:Uap1 UTSW 1 170161463 missense probably damaging 0.98
R5341:Uap1 UTSW 1 170143431 missense probably damaging 1.00
R5712:Uap1 UTSW 1 170166845 missense possibly damaging 0.87
R5772:Uap1 UTSW 1 170161380 missense probably benign 0.20
R5869:Uap1 UTSW 1 170151138 critical splice acceptor site probably null
R6229:Uap1 UTSW 1 170166733 missense probably benign
R7216:Uap1 UTSW 1 170158903 missense probably damaging 1.00
Posted On2015-04-16