Incidental Mutation 'IGL01483:Notum'
ID88702
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Notum
Ensembl Gene ENSMUSG00000042988
Gene Namenotum palmitoleoyl-protein carboxylesterase
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.819) question?
Stock #IGL01483
Quality Score
Status
Chromosome11
Chromosomal Location120653788-120661175 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120656656 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 271 (D271G)
Ref Sequence ENSEMBL: ENSMUSP00000101784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106177] [ENSMUST00000106178] [ENSMUST00000150458]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000055439
Predicted Effect probably damaging
Transcript: ENSMUST00000106177
AA Change: D271G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101783
Gene: ENSMUSG00000042988
AA Change: D271G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
Pfam:PAE 78 431 6.2e-97 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000106178
AA Change: D271G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101784
Gene: ENSMUSG00000042988
AA Change: D271G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
Pfam:PAE 88 426 4.6e-93 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126642
Predicted Effect probably benign
Transcript: ENSMUST00000150458
SMART Domains Protein: ENSMUSP00000122788
Gene: ENSMUSG00000042988

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 31 44 N/A INTRINSIC
Pfam:PAE 78 215 1.2e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151998
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110008E08Rik G T 16: 90,554,313 noncoding transcript Het
2410089E03Rik T G 15: 8,187,107 I603S probably damaging Het
Abcb4 T C 5: 8,927,871 I483T probably damaging Het
Ank3 A T 10: 69,874,809 H388L probably damaging Het
Arhgap24 T C 5: 102,860,377 Y52H possibly damaging Het
Atf7ip A G 6: 136,587,459 N900S probably damaging Het
Bmp10 A T 6: 87,433,951 D242V probably damaging Het
Ceacam12 A G 7: 18,067,521 R142G probably benign Het
Cilp2 T A 8: 69,882,846 I501F probably damaging Het
Dglucy T C 12: 100,853,217 V426A probably damaging Het
Dyrk1b A G 7: 28,182,676 D94G probably damaging Het
Erbb2 C T 11: 98,434,539 R898C probably damaging Het
Fbxo7 T C 10: 86,044,581 Y298H probably damaging Het
Gcg T C 2: 62,480,483 D25G possibly damaging Het
Gm11639 T C 11: 104,739,347 V968A probably benign Het
Helb A G 10: 120,111,138 V90A probably damaging Het
Krt40 T A 11: 99,542,727 E144D probably damaging Het
Lpo G A 11: 87,821,138 T31I probably benign Het
Mc5r A G 18: 68,339,244 I225V probably damaging Het
Mccc1 A G 3: 35,989,860 F245L probably damaging Het
Mindy4 A G 6: 55,216,685 D121G probably damaging Het
Nap1l4 A T 7: 143,527,316 probably null Het
Noc4l T A 5: 110,648,958 K486M probably damaging Het
Pan3 T A 5: 147,529,973 L550Q probably benign Het
Pde4dip A G 3: 97,754,149 S594P probably damaging Het
Pramef8 A T 4: 143,417,477 E131V probably damaging Het
Prr23a1 T G 9: 98,843,316 S244A probably benign Het
Rarb T C 14: 16,432,273 probably benign Het
Sh3d19 A G 3: 86,114,796 D511G probably benign Het
Slco6c1 T C 1: 97,128,107 N23S probably benign Het
Smarcc1 G T 9: 110,222,060 G983* probably null Het
Tbc1d22a A T 15: 86,391,203 Q442L probably benign Het
Tuba1b A G 15: 98,932,457 Y161H possibly damaging Het
Zdhhc14 G A 17: 5,712,458 M212I probably benign Het
Other mutations in Notum
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0265:Notum UTSW 11 120658334 missense probably benign 0.09
R0383:Notum UTSW 11 120654456 missense probably benign
R1268:Notum UTSW 11 120658667 nonsense probably null
R1311:Notum UTSW 11 120655749 unclassified probably benign
R2249:Notum UTSW 11 120654411 missense probably benign
R2869:Notum UTSW 11 120660196 missense probably benign
R2869:Notum UTSW 11 120660196 missense probably benign
R2871:Notum UTSW 11 120660196 missense probably benign
R2871:Notum UTSW 11 120660196 missense probably benign
R2872:Notum UTSW 11 120660196 missense probably benign
R2872:Notum UTSW 11 120660196 missense probably benign
R2873:Notum UTSW 11 120660196 missense probably benign
R5617:Notum UTSW 11 120656345 nonsense probably null
R6298:Notum UTSW 11 120657940 missense probably damaging 1.00
R7748:Notum UTSW 11 120654801 missense probably damaging 0.99
Posted On2013-11-18