Incidental Mutation 'R4302:Nol12'
ID 322469
Institutional Source Beutler Lab
Gene Symbol Nol12
Ensembl Gene ENSMUSG00000033099
Gene Name nucleolar protein 12
Synonyms Nop25, C78541
MMRRC Submission 041089-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.918) question?
Stock # R4302 (G1)
Quality Score 225
Status Validated
Chromosome 15
Chromosomal Location 78819151-78826111 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 78824341 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 154 (S154P)
Ref Sequence ENSEMBL: ENSMUSP00000116103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000123013] [ENSMUST00000138880] [ENSMUST00000145157] [ENSMUST00000149580]
AlphaFold Q8BG17
Predicted Effect unknown
Transcript: ENSMUST00000041164
AA Change: V104A
SMART Domains Protein: ENSMUSP00000042908
Gene: ENSMUSG00000033099
AA Change: V104A

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: S154P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116103
Gene: ENSMUSG00000033099
AA Change: S154P

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
Meta Mutation Damage Score 0.0918 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agl T C 3: 116,540,279 (GRCm39) Y1445C probably damaging Het
Arhgef12 G A 9: 42,929,645 (GRCm39) Q217* probably null Het
Bcas1 A G 2: 170,260,547 (GRCm39) V44A probably benign Het
Cfap251 T C 5: 123,431,873 (GRCm39) I549T probably benign Het
Clic4 A G 4: 134,953,350 (GRCm39) V98A probably benign Het
Col6a3 A T 1: 90,735,336 (GRCm39) I771N probably damaging Het
Creb3l1 T C 2: 91,823,664 (GRCm39) I183V probably damaging Het
Dnhd1 T A 7: 105,343,161 (GRCm39) W1502R probably damaging Het
Dync2h1 A T 9: 7,077,880 (GRCm39) S2941T probably benign Het
Gm973 A G 1: 59,590,399 (GRCm39) Y302C possibly damaging Het
Hcfc1 A G X: 72,992,972 (GRCm39) S1398P probably benign Het
Igsf10 T C 3: 59,226,171 (GRCm39) I2501V probably damaging Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Loxl4 T A 19: 42,596,030 (GRCm39) Y141F probably benign Het
Man2a2 T A 7: 80,001,487 (GRCm39) E1140V possibly damaging Het
Mgam A G 6: 40,740,019 (GRCm39) D1664G probably benign Het
Mill2 A T 7: 18,590,456 (GRCm39) T179S probably damaging Het
Ncf4 T C 15: 78,144,962 (GRCm39) probably benign Het
Nup58 A G 14: 60,484,875 (GRCm39) S50P probably benign Het
Or11j4 T C 14: 50,630,903 (GRCm39) I230T probably benign Het
Or12d16-ps1 T A 17: 37,706,377 (GRCm39) N315K probably benign Het
Or7g30 A G 9: 19,352,295 (GRCm39) T29A probably benign Het
Pdss1 T C 2: 22,805,517 (GRCm39) I265T probably damaging Het
Piezo2 T C 18: 63,257,801 (GRCm39) probably null Het
Rad50 T A 11: 53,592,832 (GRCm39) N106I probably benign Het
Rhpn2 A G 7: 35,090,270 (GRCm39) T631A probably benign Het
Rps11 T C 7: 44,772,368 (GRCm39) M80V probably benign Het
Rrm1 T C 7: 102,097,031 (GRCm39) Y104H probably benign Het
Sgsm3 T A 15: 80,894,502 (GRCm39) probably benign Het
Slc9c1 A T 16: 45,365,154 (GRCm39) L162F probably benign Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Stk24 A G 14: 121,529,494 (GRCm39) L386S probably benign Het
Tfcp2 G T 15: 100,412,730 (GRCm39) N307K possibly damaging Het
Trbv21 T A 6: 41,179,702 (GRCm39) V6D probably benign Het
Trip11 A T 12: 101,860,027 (GRCm39) D282E probably damaging Het
Ttn G T 2: 76,706,811 (GRCm39) probably benign Het
Vmn2r129 G T 4: 156,686,692 (GRCm39) noncoding transcript Het
Vmn2r38 A G 7: 9,100,562 (GRCm39) probably null Het
Vps8 T A 16: 21,314,664 (GRCm39) L158Q probably damaging Het
Other mutations in Nol12
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02192:Nol12 APN 15 78,821,374 (GRCm39) missense probably damaging 1.00
IGL02690: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
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
Predicted Primers PCR Primer
(F):5'- AGATACAGATAGTGCGCTTCTG -3'
(R):5'- ATTGGAAGCTGCAACAAGC -3'

Sequencing Primer
(F):5'- ATAGTGCGCTTCTGCCCAGAG -3'
(R):5'- CTCCAAACACATGTCACACTCGG -3'
Posted On 2015-06-20