Incidental Mutation 'IGL02690:Nol12'
ID 303714
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol12
Ensembl Gene ENSMUSG00000033099
Gene Name nucleolar protein 12
Synonyms Nop25, C78541
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # IGL02690
Quality Score
Status
Chromosome 15
Chromosomal Location 78819151-78826111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 78821374 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 78 (E78G)
Ref Sequence ENSEMBL: ENSMUSP00000116103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123013] [ENSMUST00000138880] [ENSMUST00000145157] [ENSMUST00000149580]
AlphaFold Q8BG17
Predicted Effect probably damaging
Transcript: ENSMUST00000041164
AA Change: E76G

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000042908
Gene: ENSMUSG00000033099
AA Change: E76G

DomainStartEndE-ValueType
Pfam:Nop25 4 170 8.1e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123013
SMART Domains Protein: ENSMUSP00000121877
Gene: ENSMUSG00000033099

DomainStartEndE-ValueType
Pfam:Nop25 45 83 5.2e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000138880
AA Change: E78G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000116103
Gene: ENSMUSG00000033099
AA Change: E78G

DomainStartEndE-ValueType
Pfam:Nop25 5 156 9.4e-20 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000145157
AA Change: E7G
Predicted Effect probably damaging
Transcript: ENSMUST00000149580
AA Change: E78G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115374
Gene: ENSMUSG00000033099
AA Change: E78G

DomainStartEndE-ValueType
Pfam:Nop25 4 140 7.1e-32 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,787,921 (GRCm39) V896A probably damaging Het
Ahnak C A 19: 8,989,948 (GRCm39) S3744* probably null Het
Aldh7a1 A G 18: 56,661,427 (GRCm39) probably benign Het
Ankk1 T A 9: 49,333,200 (GRCm39) I95F probably damaging Het
Borcs8 C A 8: 70,617,738 (GRCm39) A32D probably damaging Het
Ccn3 A G 15: 54,611,198 (GRCm39) Y111C probably damaging Het
Cdh1 T A 8: 107,384,516 (GRCm39) I328N probably damaging Het
Cebpz C T 17: 79,229,986 (GRCm39) D856N probably damaging Het
Clip2 T A 5: 134,539,013 (GRCm39) probably benign Het
Dock7 C A 4: 98,857,872 (GRCm39) V1451F possibly damaging Het
Edem3 T G 1: 151,680,550 (GRCm39) C558W probably damaging Het
Eif3f T C 7: 108,533,925 (GRCm39) V96A probably damaging Het
Gen1 A G 12: 11,291,576 (GRCm39) S738P probably damaging Het
Ipo8 A T 6: 148,678,861 (GRCm39) S912R probably benign Het
Kcp G T 6: 29,484,998 (GRCm39) probably benign Het
Larp7-ps T A 4: 92,079,248 (GRCm39) D191V probably damaging Het
Lrrfip1 A G 1: 90,981,383 (GRCm39) T2A probably damaging Het
Lyst A G 13: 13,815,710 (GRCm39) E1198G possibly damaging Het
Maml1 A G 11: 50,149,457 (GRCm39) L761P probably damaging Het
Mon2 T A 10: 122,845,532 (GRCm39) E1392V possibly damaging Het
Or13c7b G A 4: 43,821,190 (GRCm39) T57M possibly damaging Het
Or5k17 G A 16: 58,746,214 (GRCm39) T240I possibly damaging Het
Rag2 A T 2: 101,459,839 (GRCm39) I50L probably benign Het
Rasgrf2 T C 13: 92,167,273 (GRCm39) N267D probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Rsc1a1 A T 4: 141,412,612 (GRCm39) V100D probably damaging Het
Rtp1 T C 16: 23,250,132 (GRCm39) Y166H probably damaging Het
Scly A T 1: 91,233,047 (GRCm39) T109S probably benign Het
Scn8a A T 15: 100,868,135 (GRCm39) S327C probably damaging Het
Sgsm1 T C 5: 113,434,633 (GRCm39) probably benign Het
Slc4a9 A G 18: 36,665,040 (GRCm39) Y463C probably damaging Het
Speer1j C T 5: 11,555,228 (GRCm39) Q66* probably null Het
Sptan1 A G 2: 29,888,195 (GRCm39) M936V possibly damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tbx20 T A 9: 24,685,033 (GRCm39) N37Y probably benign Het
Tent4a T A 13: 69,658,744 (GRCm39) M364L probably benign Het
Tex14 C T 11: 87,377,100 (GRCm39) T148I probably benign Het
Ubxn7 A G 16: 32,200,423 (GRCm39) E371G probably benign Het
Ugt2b35 T C 5: 87,149,096 (GRCm39) F116L probably benign Het
Vmn2r111 C T 17: 22,778,023 (GRCm39) probably null Het
Vmn2r26 T C 6: 124,003,091 (GRCm39) L167P probably benign Het
Vps13b T C 15: 35,917,288 (GRCm39) W3711R probably damaging Het
Wdr5 A T 2: 27,424,840 (GRCm39) T326S probably benign Het
Other mutations in Nol12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Nol12 APN 15 78,821,374 (GRCm39) missense probably damaging 1.00
IGL02972:Nol12 APN 15 78,824,799 (GRCm39) missense probably damaging 1.00
R1434:Nol12 UTSW 15 78,822,153 (GRCm39) splice site probably benign
R1836:Nol12 UTSW 15 78,822,089 (GRCm39) missense probably damaging 1.00
R2484:Nol12 UTSW 15 78,824,717 (GRCm39) intron probably benign
R4302:Nol12 UTSW 15 78,824,341 (GRCm39) missense probably damaging 1.00
R5820:Nol12 UTSW 15 78,824,680 (GRCm39) missense probably benign 0.08
R6339:Nol12 UTSW 15 78,825,033 (GRCm39) unclassified probably benign
R6667:Nol12 UTSW 15 78,824,280 (GRCm39) missense probably benign 0.27
R7727:Nol12 UTSW 15 78,824,793 (GRCm39) nonsense probably null
R8004:Nol12 UTSW 15 78,824,717 (GRCm39) missense probably damaging 0.99
R8389:Nol12 UTSW 15 78,819,268 (GRCm39) missense probably damaging 1.00
R9006:Nol12 UTSW 15 78,824,291 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16