Incidental Mutation 'IGL02170:Uap1'
ID282881
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: 0.731) question?
Stock #IGL02170
Quality Score
Status
Chromosome1
Chromosomal Location170141938-170174957 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 170166712 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 65 (V65G)
Ref Sequence ENSEMBL: ENSMUSP00000106982 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000027981] [ENSMUST00000111350] [ENSMUST00000111351]
Predicted Effect probably benign
Transcript: ENSMUST00000027981
AA Change: V65G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000027981
Gene: ENSMUSG00000026670
AA Change: V65G

DomainStartEndE-ValueType
Pfam:UDPGP 44 471 2e-128 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111350
AA Change: V65G

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106982
Gene: ENSMUSG00000026670
AA Change: V65G

DomainStartEndE-ValueType
Pfam:UDPGP 44 467 5.3e-124 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111351
AA Change: V65G

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000106983
Gene: ENSMUSG00000026670
AA Change: V65G

DomainStartEndE-ValueType
Pfam:UDPGP 45 472 4.6e-90 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160848
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161112
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162253
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191690
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191797
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610318N02Rik G A 16: 17,118,332 P176L probably damaging Het
4932414N04Rik A G 2: 68,731,123 M265V probably benign Het
A2ml1 T C 6: 128,547,210 E1153G possibly damaging Het
Adam22 T C 5: 8,134,845 T452A probably benign Het
Ambra1 A G 2: 91,767,087 T56A possibly damaging Het
Atp1a4 A G 1: 172,234,536 V674A possibly damaging Het
AW549877 C T 15: 3,986,366 V239I probably benign Het
Ccnb1 A T 13: 100,783,486 Y172* probably null Het
Chrdl2 A T 7: 100,034,614 T416S possibly damaging Het
Col6a5 A G 9: 105,928,422 L1095P unknown Het
Dhx16 T C 17: 35,889,469 C901R probably damaging Het
Dip2c A G 13: 9,606,335 T732A probably benign Het
Dnah12 A C 14: 26,773,112 I1376L probably damaging Het
Dock2 A T 11: 34,267,949 L1207Q probably damaging Het
Eif2ak1 A T 5: 143,879,460 H192L probably benign Het
Evi5 T A 5: 107,821,884 T54S probably benign Het
Fam151a T C 4: 106,735,598 probably null Het
Fam98a C T 17: 75,540,192 probably null Het
Frmd4a G A 2: 4,566,177 R306K probably damaging Het
Fxyd7 C A 7: 31,045,007 V28L possibly damaging Het
Gabrb1 T A 5: 72,136,730 I449K probably damaging Het
Gkn3 G T 6: 87,383,511 D167E possibly damaging Het
Gm14496 A T 2: 181,996,351 Y406F probably damaging Het
Gm17359 C A 3: 79,449,434 probably benign Het
Gm17359 C A 3: 79,449,435 probably benign Het
Gm8603 T A 17: 13,516,811 noncoding transcript Het
Hecw1 T C 13: 14,264,158 N880S possibly damaging Het
Hivep2 C A 10: 14,127,804 Q49K possibly damaging Het
Hscb T A 5: 110,839,626 S35C probably damaging Het
Hspa12a T G 19: 58,804,681 K357N probably benign Het
Kcnu1 A T 8: 25,937,560 I302F probably damaging Het
Krtap5-3 T A 7: 142,202,478 C351S unknown Het
Mvd A G 8: 122,438,008 V142A probably benign Het
Myo1f A T 17: 33,578,272 I143L probably benign Het
Ncoa7 T A 10: 30,689,853 E599D possibly damaging Het
Nfasc A T 1: 132,610,366 C495* probably null Het
Nfx1 G A 4: 41,018,019 G920E probably damaging Het
Nlrp4g T G 9: 124,348,980 noncoding transcript Het
Nup85 T A 11: 115,577,931 V200E probably damaging Het
Olfr262 T C 19: 12,240,756 M302V probably benign Het
Olfr30 T A 11: 58,455,080 I290F probably damaging Het
Pask T C 1: 93,310,884 Q1293R possibly damaging Het
Ppfia2 T A 10: 106,800,785 S232T probably benign Het
Prr12 G A 7: 45,046,188 R1285W unknown Het
Slc1a1 T A 19: 28,902,753 F278I possibly damaging Het
Sos1 G T 17: 80,398,290 T1284N probably damaging Het
Sp2 T A 11: 96,956,210 Q475L probably damaging Het
Sspo A T 6: 48,467,983 T2134S possibly damaging Het
Tbx1 C A 16: 18,582,802 A300S probably benign Het
Tmem5 A T 10: 122,094,643 D126E probably damaging Het
Ubr2 G A 17: 46,967,197 T738I probably benign Het
Uvrag A T 7: 99,109,090 Y81* probably null Het
Vmn2r116 T G 17: 23,384,933 I44S probably benign Het
Xkr8 A T 4: 132,728,377 Y228* probably null Het
Zbtb20 A G 16: 43,609,662 I106V possibly damaging Het
Zc3h7a C T 16: 11,146,395 S683N probably benign Het
Zfp146 A T 7: 30,162,480 C46S possibly damaging Het
Zfp871 T C 17: 32,775,688 E152G possibly damaging Het
Zfp90 T C 8: 106,419,524 V57A probably damaging Het
Zhx3 A T 2: 160,779,798 N816K probably damaging Het
Other mutations in Uap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02330:Uap1 APN 1 170150327 missense possibly damaging 0.94
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
R8079:Uap1 UTSW 1 170158763 missense probably damaging 0.97
R8323:Uap1 UTSW 1 170151066 missense probably damaging 1.00
Posted On2015-04-16