Incidental Mutation 'R9642:Notum'
ID 726089
Institutional Source Beutler Lab
Gene Symbol Notum
Ensembl Gene ENSMUSG00000042988
Gene Name notum palmitoleoyl-protein carboxylesterase
Synonyms 5730593N15Rik
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.852) question?
Stock # R9642 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 120544614-120552001 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120550980 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 62 (D62G)
Ref Sequence ENSEMBL: ENSMUSP00000101784 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106177] [ENSMUST00000106178] [ENSMUST00000150458]
AlphaFold Q8R116
Predicted Effect probably damaging
Transcript: ENSMUST00000106177
AA Change: D62G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101783
Gene: ENSMUSG00000042988
AA Change: D62G

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: D62G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000101784
Gene: ENSMUSG00000042988
AA Change: D62G

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 probably damaging
Transcript: ENSMUST00000150458
AA Change: D62G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000122788
Gene: ENSMUSG00000042988
AA Change: D62G

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T C 18: 6,619,412 (GRCm39) probably null Het
Aadacl3 A G 4: 144,182,512 (GRCm39) S319P probably benign Het
Abcc6 C A 7: 45,639,765 (GRCm39) D907Y probably benign Het
Apol7b T C 15: 77,308,103 (GRCm39) S131G probably benign Het
Atg2a C T 19: 6,300,198 (GRCm39) R669* probably null Het
Atr T A 9: 95,821,294 (GRCm39) I2260N probably damaging Het
Bmper T A 9: 23,395,198 (GRCm39) V643E probably benign Het
Cacna2d2 A G 9: 107,392,627 (GRCm39) I524V possibly damaging Het
Ccdc171 C A 4: 83,599,525 (GRCm39) A780E probably benign Het
Cdcp3 C A 7: 130,848,257 (GRCm39) Q688K probably benign Het
Cfhr2 A G 1: 139,738,620 (GRCm39) S314P probably damaging Het
Cops2 A T 2: 125,682,410 (GRCm39) D190E probably benign Het
Dmxl1 G A 18: 50,013,825 (GRCm39) G1538R probably damaging Het
Dyrk4 A T 6: 126,893,253 (GRCm39) V43E probably benign Het
Eif4a3l2 A G 6: 116,528,350 (GRCm39) R76G probably damaging Het
Enoph1 T C 5: 100,188,115 (GRCm39) I13T possibly damaging Het
Eya3 A T 4: 132,426,374 (GRCm39) I268F probably damaging Het
Ezh2 A C 6: 47,521,453 (GRCm39) M439R probably benign Het
Fam83c T C 2: 155,672,980 (GRCm39) N259S probably damaging Het
Gbf1 A T 19: 46,258,707 (GRCm39) M963L probably benign Het
Ghr A T 15: 3,355,469 (GRCm39) D271E probably benign Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gtse1 T A 15: 85,751,697 (GRCm39) L297I probably damaging Het
Hecw1 T A 13: 14,515,394 (GRCm39) H246L probably damaging Het
Hmox1 G A 8: 75,823,881 (GRCm39) R183H possibly damaging Het
Ifi202b A T 1: 173,799,850 (GRCm39) Y210* probably null Het
Ighv1-76 A T 12: 115,811,918 (GRCm39) I6N possibly damaging Het
Ildr1 T A 16: 36,536,490 (GRCm39) I173N probably damaging Het
Jaml T C 9: 45,000,116 (GRCm39) V138A probably damaging Het
Kmt2b A T 7: 30,283,340 (GRCm39) probably null Het
Krt87 T C 15: 101,385,074 (GRCm39) N341D probably benign Het
Map3k20 T C 2: 72,272,181 (GRCm39) W770R probably damaging Het
Mast2 A G 4: 116,170,966 (GRCm39) I667T probably damaging Het
Mdp1 T C 14: 55,896,933 (GRCm39) T71A probably damaging Het
Muc5ac A T 7: 141,349,601 (GRCm39) T505S possibly damaging Het
Mx1 A G 16: 97,256,376 (GRCm39) V181A probably damaging Het
Myo15b A G 11: 115,772,335 (GRCm39) E83G possibly damaging Het
Ncam2 A T 16: 81,418,251 (GRCm39) I769L probably benign Het
Or4c124 A T 2: 89,155,907 (GRCm39) C206S possibly damaging Het
Or5ac22 A T 16: 59,135,610 (GRCm39) H53Q possibly damaging Het
Or7a39 C T 10: 78,715,395 (GRCm39) P130S probably damaging Het
Or8g32 T C 9: 39,305,857 (GRCm39) S254P probably damaging Het
P2rx2 A G 5: 110,489,878 (GRCm39) S196P possibly damaging Het
Pcdh7 A T 5: 57,876,717 (GRCm39) I91F probably damaging Het
Peak1 A G 9: 56,167,205 (GRCm39) V241A probably benign Het
Ppl C A 16: 4,915,602 (GRCm39) R623S probably benign Het
Prkaca A G 8: 84,717,088 (GRCm39) I151V probably benign Het
Psmb11 A T 14: 54,863,295 (GRCm39) Q171L probably benign Het
Rab3gap2 T G 1: 184,967,692 (GRCm39) F166V probably benign Het
Rab7 G A 6: 87,981,187 (GRCm39) A165V probably damaging Het
Ranbp2 T C 10: 58,318,907 (GRCm39) Y2473H probably damaging Het
Runx3 A G 4: 134,848,341 (GRCm39) probably benign Het
Sh3bp5l T A 11: 58,237,085 (GRCm39) C347* probably null Het
Smc5 A G 19: 23,238,752 (GRCm39) M208T probably damaging Het
Stk11ip T C 1: 75,510,899 (GRCm39) probably null Het
Tas2r136 A T 6: 132,754,462 (GRCm39) C222S probably benign Het
Themis2 A G 4: 132,513,047 (GRCm39) V393A possibly damaging Het
Tln2 A C 9: 67,157,826 (GRCm39) V1171G probably benign Het
Tmem63a T C 1: 180,776,393 (GRCm39) F68L probably damaging Het
Tpst1 T A 5: 130,130,959 (GRCm39) L143Q probably damaging Het
Trp63 C A 16: 25,682,508 (GRCm39) Q284K probably benign Het
Ttc17 T C 2: 94,194,735 (GRCm39) E546G probably benign Het
Ttn A G 2: 76,804,570 (GRCm39) I234T unknown Het
Upp1 A G 11: 9,085,206 (GRCm39) K231R probably benign Het
Uso1 T A 5: 92,285,967 (GRCm39) L4H probably damaging Het
Vmn1r9 T A 6: 57,048,216 (GRCm39) L97Q probably damaging Het
Vmn2r107 T C 17: 20,580,661 (GRCm39) C533R probably damaging Het
Vps35l C A 7: 118,437,451 (GRCm39) D909E probably benign Het
Wdr90 A G 17: 26,072,694 (GRCm39) probably null Het
Ydjc A G 16: 16,966,073 (GRCm39) H219R probably benign Het
Ykt6 T C 11: 5,905,917 (GRCm39) L6P probably damaging Het
Zfp236 A G 18: 82,622,384 (GRCm39) V1682A probably benign Het
Zfp35 C T 18: 24,137,155 (GRCm39) Q500* probably null Het
Zfp780b T A 7: 27,664,135 (GRCm39) D140V probably benign Het
Zyg11b T C 4: 108,117,185 (GRCm39) T352A probably damaging Het
Other mutations in Notum
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01483:Notum APN 11 120,547,482 (GRCm39) missense probably damaging 1.00
R0265:Notum UTSW 11 120,549,160 (GRCm39) missense probably benign 0.09
R0383:Notum UTSW 11 120,545,282 (GRCm39) missense probably benign
R1268:Notum UTSW 11 120,549,493 (GRCm39) nonsense probably null
R1311:Notum UTSW 11 120,546,575 (GRCm39) unclassified probably benign
R2249:Notum UTSW 11 120,545,237 (GRCm39) missense probably benign
R2869:Notum UTSW 11 120,551,022 (GRCm39) missense probably benign
R2869:Notum UTSW 11 120,551,022 (GRCm39) missense probably benign
R2871:Notum UTSW 11 120,551,022 (GRCm39) missense probably benign
R2871:Notum UTSW 11 120,551,022 (GRCm39) missense probably benign
R2872:Notum UTSW 11 120,551,022 (GRCm39) missense probably benign
R2872:Notum UTSW 11 120,551,022 (GRCm39) missense probably benign
R2873:Notum UTSW 11 120,551,022 (GRCm39) missense probably benign
R5617:Notum UTSW 11 120,547,171 (GRCm39) nonsense probably null
R6298:Notum UTSW 11 120,548,766 (GRCm39) missense probably damaging 1.00
R7748:Notum UTSW 11 120,545,627 (GRCm39) missense probably damaging 0.99
R8998:Notum UTSW 11 120,545,207 (GRCm39) missense probably benign 0.08
R8999:Notum UTSW 11 120,545,207 (GRCm39) missense probably benign 0.08
R9261:Notum UTSW 11 120,550,974 (GRCm39) missense
R9616:Notum UTSW 11 120,550,974 (GRCm39) missense
R9714:Notum UTSW 11 120,551,019 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AGTACAGTCTCCGCGTTTG -3'
(R):5'- GAGTGACATTGCCATGGGAG -3'

Sequencing Primer
(F):5'- CCACCAGCGATAGGATGACG -3'
(R):5'- CATTGCCATGGGAGGAGAGGTG -3'
Posted On 2022-09-12