Incidental Mutation 'IGL02690:Nol12'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol12
Ensembl Gene ENSMUSG00000033099
Gene Namenucleolar protein 12
SynonymsC78541, Nop25
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.903) question?
Stock #IGL02690
Quality Score
Chromosomal Location78934933-78943638 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78937174 bp
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]
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

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

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

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

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: 57,480,921 V896A probably damaging Het
Ahnak C A 19: 9,012,584 S3744* probably null Het
Aldh7a1 A G 18: 56,528,355 probably benign Het
Ankk1 T A 9: 49,421,900 I95F probably damaging Het
Borcs8 C A 8: 70,165,088 A32D probably damaging Het
Cdh1 T A 8: 106,657,884 I328N probably damaging Het
Cebpz C T 17: 78,922,557 D856N probably damaging Het
Clip2 T A 5: 134,510,159 probably benign Het
Dock7 C A 4: 98,969,635 V1451F possibly damaging Het
Edem3 T G 1: 151,804,799 C558W probably damaging Het
Eif3f T C 7: 108,934,718 V96A probably damaging Het
Gen1 A G 12: 11,241,575 S738P probably damaging Het
Gm12666 T A 4: 92,191,011 D191V probably damaging Het
Gm8906 C T 5: 11,505,261 Q66* probably null Het
Ipo8 A T 6: 148,777,363 S912R probably benign Het
Kcp G T 6: 29,484,999 probably benign Het
Lrrfip1 A G 1: 91,053,661 T2A probably damaging Het
Lyst A G 13: 13,641,125 E1198G possibly damaging Het
Maml1 A G 11: 50,258,630 L761P probably damaging Het
Mon2 T A 10: 123,009,627 E1392V possibly damaging Het
Nov A G 15: 54,747,802 Y111C probably damaging Het
Olfr156 G A 4: 43,821,190 T57M possibly damaging Het
Olfr181 G A 16: 58,925,851 T240I possibly damaging Het
Papd7 T A 13: 69,510,625 M364L probably benign Het
Rag2 A T 2: 101,629,494 I50L probably benign Het
Rasgrf2 T C 13: 92,030,765 N267D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsc1a1 A T 4: 141,685,301 V100D probably damaging Het
Rtp1 T C 16: 23,431,382 Y166H probably damaging Het
Scly A T 1: 91,305,325 T109S probably benign Het
Scn8a A T 15: 100,970,254 S327C probably damaging Het
Sgsm1 T C 5: 113,286,767 probably benign Het
Slc4a9 A G 18: 36,531,987 Y463C probably damaging Het
Sptan1 A G 2: 29,998,183 M936V possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tbx20 T A 9: 24,773,737 N37Y probably benign Het
Tex14 C T 11: 87,486,274 T148I probably benign Het
Ubxn7 A G 16: 32,381,605 E371G probably benign Het
Ugt2b35 T C 5: 87,001,237 F116L probably benign Het
Vmn2r111 C T 17: 22,559,042 probably null Het
Vmn2r26 T C 6: 124,026,132 L167P probably benign Het
Vps13b T C 15: 35,917,142 W3711R probably damaging Het
Wdr5 A T 2: 27,534,828 T326S probably benign Het
Other mutations in Nol12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Nol12 APN 15 78937174 missense probably damaging 1.00
IGL02972:Nol12 APN 15 78940599 missense probably damaging 1.00
R1434:Nol12 UTSW 15 78937953 splice site probably benign
R1836:Nol12 UTSW 15 78937889 missense probably damaging 1.00
R2484:Nol12 UTSW 15 78940517 intron probably benign
R4302:Nol12 UTSW 15 78940141 missense probably damaging 1.00
R5820:Nol12 UTSW 15 78940480 missense probably benign 0.08
R6339:Nol12 UTSW 15 78940833 unclassified probably benign
R6667:Nol12 UTSW 15 78940080 missense probably benign 0.27
Posted On2015-04-16