Incidental Mutation 'R6966:Uap1l1'
ID 541981
Institutional Source Beutler Lab
Gene Symbol Uap1l1
Ensembl Gene ENSMUSG00000026956
Gene Name UDP-N-acteylglucosamine pyrophosphorylase 1-like 1
Synonyms 5730445F03Rik
MMRRC Submission 045076-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.093) question?
Stock # R6966 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 25251501-25255695 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 25254950 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 146 (I146T)
Ref Sequence ENSEMBL: ENSMUSP00000099989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102925]
AlphaFold Q3TW96
Predicted Effect probably damaging
Transcript: ENSMUST00000102925
AA Change: I146T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099989
Gene: ENSMUSG00000026956
AA Change: I146T

DomainStartEndE-ValueType
low complexity region 24 48 N/A INTRINSIC
Pfam:UDPGP 68 453 2.1e-63 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.2%
  • 20x: 97.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam26b G A 8: 43,974,472 (GRCm39) R177C possibly damaging Het
Adgrb2 CG C 4: 129,908,155 (GRCm39) probably null Het
Bahcc1 G A 11: 120,173,985 (GRCm39) V1582M probably damaging Het
Baiap2 A T 11: 119,897,231 (GRCm39) R529* probably null Het
Bcl9l C T 9: 44,420,685 (GRCm39) Q1327* probably null Het
Brsk2 T A 7: 141,538,270 (GRCm39) C139S possibly damaging Het
Catsper3 T A 13: 55,946,672 (GRCm39) I123N probably damaging Het
Cd84 A G 1: 171,713,976 (GRCm39) N325D possibly damaging Het
Chid1 T A 7: 141,076,297 (GRCm39) Y357F possibly damaging Het
Clstn2 A T 9: 97,408,459 (GRCm39) Y416* probably null Het
Cnot1 A T 8: 96,451,160 (GRCm39) L2189Q probably damaging Het
Csnk2b T A 17: 35,336,758 (GRCm39) I170L probably benign Het
Dnah3 T C 7: 119,631,977 (GRCm39) Q1326R probably damaging Het
Drd1 T C 13: 54,207,564 (GRCm39) I210V probably damaging Het
Eef1d G T 15: 75,775,558 (GRCm39) Q34K probably benign Het
Fam184a T C 10: 53,531,095 (GRCm39) T760A probably benign Het
Fnip1 G T 11: 54,373,385 (GRCm39) V199F probably benign Het
Glyatl3 T C 17: 41,215,829 (GRCm39) K226E probably damaging Het
Gm19410 C T 8: 36,285,127 (GRCm39) T2093I possibly damaging Het
Herc1 A T 9: 66,318,347 (GRCm39) E1206D probably benign Het
Hs6st1 G A 1: 36,143,299 (GRCm39) W411* probably null Het
Hsf2 C A 10: 57,372,080 (GRCm39) S60R probably damaging Het
Hyal5 C A 6: 24,891,291 (GRCm39) N368K probably damaging Het
Itgb2l A T 16: 96,231,843 (GRCm39) F308I probably benign Het
Kdm7a G A 6: 39,129,773 (GRCm39) L468F probably damaging Het
Lamp3 A T 16: 19,518,403 (GRCm39) L278* probably null Het
Ly6c1 A T 15: 74,917,289 (GRCm39) probably benign Het
Mark3 A G 12: 111,606,458 (GRCm39) N524D probably damaging Het
Met T G 6: 17,531,531 (GRCm39) L603R possibly damaging Het
Mical1 A T 10: 41,355,750 (GRCm39) Q198L probably damaging Het
Nacad T A 11: 6,552,634 (GRCm39) I186F possibly damaging Het
Nt5c3b A T 11: 100,320,750 (GRCm39) M257K probably benign Het
Nuak2 T C 1: 132,252,770 (GRCm39) M108T possibly damaging Het
Nub1 T A 5: 24,894,470 (GRCm39) Y51N probably damaging Het
Nxpe5 T C 5: 138,237,679 (GRCm39) S68P probably damaging Het
Or10ag58 C T 2: 87,265,623 (GRCm39) T264I probably damaging Het
Or5d44 A G 2: 88,141,835 (GRCm39) S102P probably benign Het
Or6c66 A G 10: 129,461,633 (GRCm39) V99A probably benign Het
Pias3 A G 3: 96,609,511 (GRCm39) D276G probably damaging Het
Setd7 A G 3: 51,437,605 (GRCm39) Y217H probably damaging Het
Slc23a1 A T 18: 35,758,114 (GRCm39) I142N probably damaging Het
Slx4ip T C 2: 136,910,144 (GRCm39) S310P probably damaging Het
Tcp11l2 G A 10: 84,427,133 (GRCm39) R199Q possibly damaging Het
Tgm4 T A 9: 122,880,207 (GRCm39) D226E possibly damaging Het
Tspyl4 C A 10: 34,173,673 (GRCm39) A55E probably benign Het
Ush2a G A 1: 188,308,441 (GRCm39) G2030D probably damaging Het
Uts2r G A 11: 121,052,213 (GRCm39) G359D possibly damaging Het
Vwa7 T C 17: 35,236,072 (GRCm39) S9P probably benign Het
Zbtb16 A G 9: 48,568,654 (GRCm39) C604R probably damaging Het
Zfp804b A G 5: 6,821,615 (GRCm39) S483P probably damaging Het
Zfpm1 G A 8: 123,058,904 (GRCm39) A175T probably damaging Het
Other mutations in Uap1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01527:Uap1l1 APN 2 25,253,816 (GRCm39) critical splice donor site probably null
IGL02437:Uap1l1 APN 2 25,253,945 (GRCm39) missense probably damaging 1.00
R0522:Uap1l1 UTSW 2 25,253,289 (GRCm39) missense probably damaging 1.00
R1067:Uap1l1 UTSW 2 25,252,759 (GRCm39) missense probably damaging 1.00
R4735:Uap1l1 UTSW 2 25,252,732 (GRCm39) missense probably damaging 1.00
R4808:Uap1l1 UTSW 2 25,252,097 (GRCm39) missense probably damaging 1.00
R4884:Uap1l1 UTSW 2 25,252,840 (GRCm39) missense probably damaging 0.97
R5042:Uap1l1 UTSW 2 25,252,097 (GRCm39) missense possibly damaging 0.93
R5560:Uap1l1 UTSW 2 25,252,688 (GRCm39) missense probably benign
R5633:Uap1l1 UTSW 2 25,253,361 (GRCm39) missense probably benign
R5634:Uap1l1 UTSW 2 25,254,145 (GRCm39) missense probably damaging 1.00
R5910:Uap1l1 UTSW 2 25,253,445 (GRCm39) intron probably benign
R5973:Uap1l1 UTSW 2 25,254,642 (GRCm39) missense possibly damaging 0.92
R6187:Uap1l1 UTSW 2 25,252,741 (GRCm39) missense probably damaging 0.98
R7161:Uap1l1 UTSW 2 25,253,292 (GRCm39) missense probably damaging 1.00
R7356:Uap1l1 UTSW 2 25,251,696 (GRCm39) missense possibly damaging 0.60
R8461:Uap1l1 UTSW 2 25,255,422 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CTGGCAAGTCTAGAAGGGGTTC -3'
(R):5'- GGTTCTCCAAAGTGAAAGAGGC -3'

Sequencing Primer
(F):5'- CAGTAATGGCAAGTACTGGGCTC -3'
(R):5'- TGAAAGAGGCCTTATCTCACGATGC -3'
Posted On 2018-11-28