Incidental Mutation 'IGL03047:Nop14'
ID 392226
Institutional Source Beutler Lab
Gene Symbol Nop14
Ensembl Gene ENSMUSG00000036693
Gene Name NOP14 nucleolar protein
Synonyms Nol14, 2610033H07Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # IGL03047 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 34795880-34817492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 34817358 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Lysine at position 11 (R11K)
Ref Sequence ENSEMBL: ENSMUSP00000038382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001112] [ENSMUST00000041364] [ENSMUST00000074651]
AlphaFold Q8R3N1
Predicted Effect probably benign
Transcript: ENSMUST00000001112
SMART Domains Protein: ENSMUSP00000001112
Gene: ENSMUSG00000052783

DomainStartEndE-ValueType
RGS 51 171 1.61e-31 SMART
S_TKc 186 448 7.78e-85 SMART
S_TK_X 449 528 2.98e-3 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000041364
AA Change: R11K

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
AA Change: R11K

DomainStartEndE-ValueType
Pfam:Nop14 21 849 2.2e-273 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074651
SMART Domains Protein: ENSMUSP00000074223
Gene: ENSMUSG00000052783

DomainStartEndE-ValueType
RGS 51 163 1.39e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148588
SMART Domains Protein: ENSMUSP00000122826
Gene: ENSMUSG00000052783

DomainStartEndE-ValueType
PDB:3NYO|B 2 80 2e-27 PDB
SCOP:d1dk8a_ 32 79 3e-5 SMART
Blast:RGS 44 81 3e-18 BLAST
Meta Mutation Damage Score 0.0734 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 98% (41/42)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that plays a role in pre-18s rRNA processing and small ribosomal subunit assembly. The encoded protein may be involved in the regulation of pancreatic cancer cell proliferation and migration. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900092C05Rik T A 7: 12,246,568 (GRCm39) H21Q possibly damaging Het
4933427D14Rik A G 11: 72,057,552 (GRCm39) I749T possibly damaging Het
Adam22 A G 5: 8,132,220 (GRCm39) S869P probably damaging Het
Add3 A G 19: 53,231,022 (GRCm39) T566A probably benign Het
Asic3 A C 5: 24,618,788 (GRCm39) M27L probably benign Het
Atp2c1 T A 9: 105,398,206 (GRCm39) probably benign Het
Cabin1 A T 10: 75,535,934 (GRCm39) probably benign Het
Ccr7 C T 11: 99,036,160 (GRCm39) R254H probably benign Het
Cdk2ap1 G T 5: 124,486,753 (GRCm39) A63E possibly damaging Het
Cfap70 T C 14: 20,498,646 (GRCm39) T14A possibly damaging Het
Cldn11 T A 3: 31,217,256 (GRCm39) F141L probably damaging Het
Comp G T 8: 70,827,559 (GRCm39) A107S possibly damaging Het
Cyp2b23 A T 7: 26,380,892 (GRCm39) probably benign Het
Cyp2c68 T G 19: 39,722,904 (GRCm39) I215L probably benign Het
Cyp4f17 T A 17: 32,743,023 (GRCm39) I232K possibly damaging Het
Dram2 T G 3: 106,480,345 (GRCm39) F219L probably damaging Het
Fam186a G A 15: 99,843,589 (GRCm39) A885V unknown Het
Fbxo42 A G 4: 140,926,853 (GRCm39) T378A possibly damaging Het
Frmpd1 T A 4: 45,283,993 (GRCm39) V938E probably damaging Het
Gramd1c C A 16: 43,808,610 (GRCm39) L489F probably damaging Het
Il17ra T C 6: 120,458,187 (GRCm39) I446T probably damaging Het
Il36g G A 2: 24,082,719 (GRCm39) A165T probably damaging Het
Kcne4 G T 1: 78,795,495 (GRCm39) V48F possibly damaging Het
Ly6g6c T A 17: 35,288,325 (GRCm39) probably null Het
Mars2 A G 1: 55,278,032 (GRCm39) Y545C probably benign Het
Mmp12 T G 9: 7,357,797 (GRCm39) probably benign Het
Mthfd1l T A 10: 3,930,409 (GRCm39) probably benign Het
Npas3 T A 12: 53,878,470 (GRCm39) probably benign Het
Odf2 A T 2: 29,810,907 (GRCm39) probably benign Het
Or2y1d A G 11: 49,321,794 (GRCm39) M164V probably benign Het
Or5p73 T C 7: 108,064,983 (GRCm39) S151P probably damaging Het
Or5w16 A G 2: 87,577,338 (GRCm39) Y266C possibly damaging Het
Or6s1 A G 14: 51,308,613 (GRCm39) I79T possibly damaging Het
Otud7b T C 3: 96,058,301 (GRCm39) probably benign Het
Plcg1 T C 2: 160,596,799 (GRCm39) Y747H probably damaging Het
Runx1t1 G A 4: 13,865,882 (GRCm39) V357I probably damaging Het
Seh1l C G 18: 67,922,520 (GRCm39) T291R probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Sulf2 G T 2: 165,922,814 (GRCm39) probably null Het
Tent4a C A 13: 69,651,030 (GRCm39) D369Y probably damaging Het
Tex14 C T 11: 87,427,530 (GRCm39) S1174F probably damaging Het
Tm9sf4 A G 2: 153,003,326 (GRCm39) probably benign Het
Vmn2r7 G A 3: 64,614,639 (GRCm39) H392Y possibly damaging Het
Zfhx4 T A 3: 5,308,793 (GRCm39) V673D probably damaging Het
Other mutations in Nop14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Nop14 APN 5 34,798,657 (GRCm39) unclassified probably benign
IGL00985:Nop14 APN 5 34,802,133 (GRCm39) missense probably damaging 0.98
IGL01626:Nop14 APN 5 34,806,689 (GRCm39) nonsense probably null
IGL02676:Nop14 APN 5 34,796,565 (GRCm39) missense probably damaging 0.97
IGL03189:Nop14 APN 5 34,807,972 (GRCm39) unclassified probably benign
R0025:Nop14 UTSW 5 34,801,297 (GRCm39) missense probably benign 0.08
R0831:Nop14 UTSW 5 34,807,864 (GRCm39) missense possibly damaging 0.70
R1027:Nop14 UTSW 5 34,801,348 (GRCm39) missense probably damaging 0.99
R1252:Nop14 UTSW 5 34,807,899 (GRCm39) missense probably benign
R1616:Nop14 UTSW 5 34,807,757 (GRCm39) missense possibly damaging 0.46
R1845:Nop14 UTSW 5 34,807,672 (GRCm39) missense possibly damaging 0.82
R2032:Nop14 UTSW 5 34,817,283 (GRCm39) missense possibly damaging 0.65
R3693:Nop14 UTSW 5 34,811,782 (GRCm39) missense probably damaging 0.98
R4033:Nop14 UTSW 5 34,807,861 (GRCm39) missense probably benign
R4168:Nop14 UTSW 5 34,814,088 (GRCm39) missense probably damaging 0.99
R4172:Nop14 UTSW 5 34,807,951 (GRCm39) missense probably damaging 0.99
R4618:Nop14 UTSW 5 34,796,562 (GRCm39) missense probably damaging 1.00
R4936:Nop14 UTSW 5 34,809,737 (GRCm39) missense probably damaging 1.00
R6067:Nop14 UTSW 5 34,815,295 (GRCm39) missense probably damaging 1.00
R6075:Nop14 UTSW 5 34,817,235 (GRCm39) missense probably damaging 1.00
R6078:Nop14 UTSW 5 34,815,295 (GRCm39) missense probably damaging 1.00
R6284:Nop14 UTSW 5 34,798,835 (GRCm39) splice site probably null
R7295:Nop14 UTSW 5 34,796,376 (GRCm39) missense probably damaging 0.99
R7585:Nop14 UTSW 5 34,802,124 (GRCm39) missense probably damaging 1.00
R7626:Nop14 UTSW 5 34,809,135 (GRCm39) missense probably damaging 0.99
R7954:Nop14 UTSW 5 34,807,729 (GRCm39) missense probably benign
R8079:Nop14 UTSW 5 34,811,805 (GRCm39) missense probably damaging 1.00
R8428:Nop14 UTSW 5 34,798,784 (GRCm39) missense probably damaging 0.99
R8850:Nop14 UTSW 5 34,817,352 (GRCm39) missense probably benign 0.05
R9173:Nop14 UTSW 5 34,806,776 (GRCm39) missense probably damaging 0.96
U15987:Nop14 UTSW 5 34,815,295 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGGGCATAGTACGCAGAAC -3'
(R):5'- TAGTGTCATCCAGGACTTGTG -3'

Sequencing Primer
(F):5'- AGAACCTGGGTAGAGCCTATCC -3'
(R):5'- TGTACTTCTCGCGAAATACGG -3'
Posted On 2016-06-09