Incidental Mutation 'IGL02972: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: 0.917) question?
Stock #IGL02972
Quality Score
Chromosomal Location78934933-78943638 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78940599 bp
Amino Acid Change Threonine to Alanine at position 209 (T209A)
Ref Sequence ENSEMBL: ENSMUSP00000116103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123013] [ENSMUST00000138880] [ENSMUST00000145157] [ENSMUST00000149580]
Predicted Effect unknown
Transcript: ENSMUST00000041164
AA Change: D159G
SMART Domains Protein: ENSMUSP00000042908
Gene: ENSMUSG00000033099
AA Change: D159G

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: T209A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000116103
Gene: ENSMUSG00000033099
AA Change: T209A

Pfam:Nop25 5 156 9.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145157
Predicted Effect probably benign
Transcript: ENSMUST00000149580
SMART Domains Protein: ENSMUSP00000115374
Gene: ENSMUSG00000033099

Pfam:Nop25 4 140 7.1e-32 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik T A 17: 36,978,520 I105F possibly damaging Het
Bmpr1b C T 3: 141,870,758 D105N probably benign Het
Ces2e A T 8: 104,927,061 S44C probably damaging Het
Chd7 T A 4: 8,855,174 N2134K probably benign Het
Chst15 T C 7: 132,269,173 D211G probably damaging Het
Dpp4 T C 2: 62,352,225 S571G probably damaging Het
Gna11 T C 10: 81,533,391 I113V probably benign Het
Grm3 T C 5: 9,512,410 Y480C probably damaging Het
Mccc1 C T 3: 35,985,089 V252I possibly damaging Het
Olfr1384 G A 11: 49,514,091 G151D probably damaging Het
Olfr622 A G 7: 103,639,894 M82T probably damaging Het
Olfr859 T C 9: 19,808,942 F208S probably damaging Het
P3h1 C A 4: 119,247,960 Q712K possibly damaging Het
Per2 T A 1: 91,423,981 E934D possibly damaging Het
Pfkl T C 10: 77,988,274 D760G probably benign Het
Piezo2 C A 18: 63,064,785 probably benign Het
Pkd1l1 C T 11: 8,863,908 R1481Q probably damaging Het
Plpp3 T C 4: 105,208,792 V189A possibly damaging Het
Pnpla1 A G 17: 28,886,947 E592G probably null Het
Prdm2 A T 4: 143,132,166 M1518K probably benign Het
Rhbdl3 G A 11: 80,331,916 probably benign Het
Rnf145 C T 11: 44,564,038 S582F probably benign Het
Rsf1 A G 7: 97,661,326 D421G probably benign Het
Serac1 A C 17: 6,070,764 L85* probably null Het
Slc43a1 T G 2: 84,860,118 V460G probably damaging Het
Slc7a6 G A 8: 106,179,427 C97Y probably damaging Het
Slco5a1 A T 1: 12,990,155 L114* probably null Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Taok1 A G 11: 77,559,758 V396A probably benign Het
Tmem232 T A 17: 65,476,673 H233L probably benign Het
Tmprss11c C T 5: 86,237,833 S247N possibly damaging Het
Tnc C T 4: 63,976,478 S1557N probably benign Het
Txlng A G X: 162,807,555 M94T probably damaging Het
Ube2b A T 11: 51,988,682 I87K probably damaging Het
Ubr5 A T 15: 38,041,952 S133R probably damaging Het
Ugt1a5 C T 1: 88,166,422 T124I probably benign Het
Vamp1 G T 6: 125,219,647 R117L probably benign Het
Vmn1r87 G T 7: 13,132,329 Y10* probably null Het
Zan G A 5: 137,463,686 T1077I unknown Het
Zc2hc1b C A 10: 13,171,281 V29F probably damaging Het
Zfp597 T C 16: 3,866,523 D123G probably benign Het
Other mutations in Nol12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Nol12 APN 15 78937174 missense probably damaging 1.00
IGL02690:Nol12 APN 15 78937174 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
R7727:Nol12 UTSW 15 78940593 nonsense probably null
R8004:Nol12 UTSW 15 78940517 missense probably damaging 0.99
R8389:Nol12 UTSW 15 78935068 missense probably damaging 1.00
Posted On2015-12-18