Incidental Mutation 'R5617:Notum'
ID439594
Institutional Source Beutler Lab
Gene Symbol Notum
Ensembl Gene ENSMUSG00000042988
Gene Namenotum palmitoleoyl-protein carboxylesterase
Synonyms
MMRRC Submission 043276-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.794) question?
Stock #R5617 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location120653788-120661175 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 120656345 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Stop codon at position 332 (Y332*)
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 null
Transcript: ENSMUST00000106177
AA Change: Y332*
SMART Domains Protein: ENSMUSP00000101783
Gene: ENSMUSG00000042988
AA Change: Y332*

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 null
Transcript: ENSMUST00000106178
AA Change: Y332*
SMART Domains Protein: ENSMUSP00000101784
Gene: ENSMUSG00000042988
AA Change: Y332*

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (59/59)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 C T 11: 9,277,891 L645F probably benign Het
Acss3 T C 10: 106,951,990 Y522C probably damaging Het
Asb18 A G 1: 89,954,462 V118A possibly damaging Het
Aste1 T A 9: 105,397,835 C8S probably benign Het
Atp10a A G 7: 58,803,675 S834G probably benign Het
Cdh18 A G 15: 23,226,768 D105G probably damaging Het
Cenpb T C 2: 131,179,014 E288G probably damaging Het
Clcnka C T 4: 141,389,317 G541D probably null Het
Dctn3 T C 4: 41,716,407 I134V possibly damaging Het
Dennd4b T C 3: 90,275,626 S917P probably benign Het
Fam135b A T 15: 71,622,016 D21E probably damaging Het
Fam174a T C 1: 95,314,247 V144A probably damaging Het
Fbxo38 A G 18: 62,505,971 Y1087H probably damaging Het
Gm7275 A T 16: 48,074,164 noncoding transcript Het
Gm9271 G T 7: 39,363,652 noncoding transcript Het
Grm2 T C 9: 106,651,076 probably null Het
Hrasls A T 16: 29,220,410 R81* probably null Het
Htt T A 5: 34,870,806 V1802D possibly damaging Het
Ighv1-75 C A 12: 115,834,254 G16V probably benign Het
Krt78 G A 15: 101,947,609 T589I probably damaging Het
Lama3 T C 18: 12,498,936 probably benign Het
Lbr A T 1: 181,828,902 V227D probably benign Het
Lsamp T C 16: 42,134,423 V211A probably damaging Het
Map3k19 G A 1: 127,822,966 R883C probably damaging Het
March8 A C 6: 116,403,520 I111L possibly damaging Het
Mrps10 T A 17: 47,378,242 M187K probably benign Het
Ncdn G A 4: 126,745,047 R660C probably damaging Het
Nr1h5 A T 3: 102,947,829 L319I probably damaging Het
Olfr1082 T A 2: 86,594,001 I276L probably benign Het
Olfr635 A T 7: 103,979,714 H180L possibly damaging Het
Osbpl5 T C 7: 143,692,947 D765G possibly damaging Het
Parp3 C T 9: 106,474,505 V170M possibly damaging Het
Pcdh15 A G 10: 74,635,672 probably benign Het
Pcdha9 T G 18: 36,998,816 S313A probably benign Het
Pfkm A G 15: 98,122,226 R201G possibly damaging Het
Pgm5 G A 19: 24,750,401 R375* probably null Het
Phactr2 A G 10: 13,474,065 S72P possibly damaging Het
Plec A G 15: 76,174,532 L3600P probably damaging Het
Pou6f1 G A 15: 100,585,993 T208M possibly damaging Het
Rabep1 C T 11: 70,917,529 S394L probably damaging Het
Ranbp2 T G 10: 58,465,667 F687C probably damaging Het
Ranbp6 A G 19: 29,812,463 F163S probably damaging Het
Rcor3 T C 1: 192,120,130 N240D probably benign Het
Samd13 C A 3: 146,646,310 K95N probably benign Het
Slc25a17 G T 15: 81,360,774 probably benign Het
Slfn8 G T 11: 83,004,721 H420N probably benign Het
Sptbn5 G A 2: 120,046,484 probably benign Het
Stim2 G A 5: 54,109,733 E21K probably damaging Het
Tmem163 A G 1: 127,551,330 Y151H possibly damaging Het
Trio A G 15: 27,902,748 I209T probably benign Het
Tubal3 T A 13: 3,933,432 L404H probably damaging Het
Ubqln3 A G 7: 104,142,433 F150S probably damaging Het
Ubr5 T C 15: 38,030,657 S425G possibly damaging Het
Vmn2r52 T A 7: 10,170,934 H326L probably damaging Het
Other mutations in Notum
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Notum APN 11 120656656 missense probably damaging 1.00
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
R6298:Notum UTSW 11 120657940 missense probably damaging 1.00
R7748:Notum UTSW 11 120654801 missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- GGATTTGTCTCCGATGCCAC -3'
(R):5'- AACCCTGTCTAGTGCAAAGG -3'

Sequencing Primer
(F):5'- TGGTGCTAAATTCAGGACAATCCC -3'
(R):5'- CTGTCTAGTGCAAAGGGCCTG -3'
Posted On2016-11-08