Incidental Mutation 'IGL03189:Nop14'
ID 412593
Institutional Source Australian Phenomics Network (link to record)
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 # IGL03189
Quality Score
Status
Chromosome 5
Chromosomal Location 34795880-34817492 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to G at 34807972 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000041364]
AlphaFold Q8R3N1
Predicted Effect probably benign
Transcript: ENSMUST00000041364
SMART Domains Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693

DomainStartEndE-ValueType
Pfam:Nop14 21 849 2.2e-273 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134467
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152393
Predicted Effect probably benign
Transcript: ENSMUST00000201897
Coding Region Coverage
Validation Efficiency
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1b A G 5: 8,895,814 (GRCm39) T916A probably benign Het
Adam22 A T 5: 8,161,897 (GRCm39) Y50* probably null Het
Adprs T C 4: 126,211,087 (GRCm39) probably benign Het
Ahnak G A 19: 8,988,603 (GRCm39) V3296M possibly damaging Het
Bfar A G 16: 13,505,365 (GRCm39) D125G possibly damaging Het
Bmp3 A T 5: 99,020,579 (GRCm39) Q334L probably benign Het
Camsap2 A T 1: 136,209,400 (GRCm39) D697E probably damaging Het
Car11 A G 7: 45,351,879 (GRCm39) T103A probably damaging Het
Cecr2 T A 6: 120,739,391 (GRCm39) S1373T probably benign Het
Cenpm A G 15: 82,118,634 (GRCm39) V160A possibly damaging Het
Chl1 A T 6: 103,660,168 (GRCm39) I365F possibly damaging Het
Col20a1 C T 2: 180,651,200 (GRCm39) Q1089* probably null Het
Csf1r A T 18: 61,239,058 (GRCm39) T13S probably benign Het
Fam13a T C 6: 58,933,843 (GRCm39) E249G probably damaging Het
Fgd6 G A 10: 93,880,318 (GRCm39) V391I probably benign Het
Fhdc1 G A 3: 84,362,368 (GRCm39) probably benign Het
Fn3krp T C 11: 121,320,456 (GRCm39) I267T probably damaging Het
Fras1 A T 5: 96,890,930 (GRCm39) I2820F probably benign Het
Fyb2 A G 4: 104,872,939 (GRCm39) I771V probably damaging Het
Gata3os A G 2: 9,888,634 (GRCm39) probably benign Het
Glis1 A G 4: 107,472,248 (GRCm39) Y275C probably damaging Het
Hdgf A G 3: 87,820,735 (GRCm39) T62A possibly damaging Het
Hsd17b3 C T 13: 64,210,901 (GRCm39) probably null Het
Ift56 C T 6: 38,402,166 (GRCm39) P553S probably benign Het
Iqgap1 T A 7: 80,363,590 (GRCm39) Y1655F probably benign Het
Izumo1 A G 7: 45,274,588 (GRCm39) D181G probably damaging Het
Lrp2 T C 2: 69,268,822 (GRCm39) probably benign Het
Mark1 T C 1: 184,651,890 (GRCm39) N95S probably damaging Het
Mbd5 A G 2: 49,147,763 (GRCm39) K658E probably damaging Het
Mcm6 C T 1: 128,272,039 (GRCm39) D453N probably damaging Het
Mfsd14a T C 3: 116,435,504 (GRCm39) D187G probably benign Het
Mrpl19 G T 6: 81,938,974 (GRCm39) S276* probably null Het
Ncoa2 G A 1: 13,260,360 (GRCm39) T105M probably damaging Het
Or2ah1 A G 2: 85,653,902 (GRCm39) T196A probably benign Het
Or2aj5 T C 16: 19,425,341 (GRCm39) T26A probably benign Het
Or5w19 G A 2: 87,698,559 (GRCm39) A75T possibly damaging Het
Otud7b G A 3: 96,062,795 (GRCm39) S678N probably benign Het
Pcdhb6 G A 18: 37,469,205 (GRCm39) V25M probably damaging Het
Prpf39 G T 12: 65,090,076 (GRCm39) G5* probably null Het
Serpinb9d T C 13: 33,386,895 (GRCm39) V321A probably damaging Het
Sh2b1 A G 7: 126,067,702 (GRCm39) S613P possibly damaging Het
Snx30 T C 4: 59,857,452 (GRCm39) I55T probably benign Het
Spata13 T C 14: 60,929,063 (GRCm39) I207T possibly damaging Het
Suco T C 1: 161,684,906 (GRCm39) probably benign Het
Svs5 A G 2: 164,079,032 (GRCm39) S292P possibly damaging Het
Tcam1 A G 11: 106,176,212 (GRCm39) I313V probably benign Het
Tmem45a A T 16: 56,631,936 (GRCm39) Y227* probably null Het
Tnfsf15 A G 4: 63,648,289 (GRCm39) probably benign Het
Vmn2r4 C A 3: 64,296,589 (GRCm39) R732L possibly damaging Het
Wdr7 C T 18: 63,893,672 (GRCm39) T602I probably benign 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
IGL03047:Nop14 UTSW 5 34,817,358 (GRCm39) missense possibly damaging 0.93
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
Posted On 2016-08-02