Incidental Mutation 'IGL02972:Nol12'
ID365865
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
Status
Chromosome15
Chromosomal Location78934933-78943638 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 78940599 bp
ZygosityHeterozygous
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

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: T209A

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

DomainStartEndE-ValueType
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

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: 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