Incidental Mutation 'IGL01626:Nop14'
ID92699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nop14
Ensembl Gene ENSMUSG00000036693
Gene NameNOP14 nucleolar protein
SynonymsNol14, 2610033H07Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL01626
Quality Score
Status
Chromosome5
Chromosomal Location34638536-34660148 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 34649345 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 472 (K472*)
Ref Sequence ENSEMBL: ENSMUSP00000038382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041364]
Predicted Effect probably null
Transcript: ENSMUST00000041364
AA Change: K472*
SMART Domains Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
AA Change: K472*

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2 A G 3: 60,019,174 D188G probably damaging Het
AI314180 G A 4: 58,832,814 probably benign Het
Aoc1 A G 6: 48,906,531 Y447C probably damaging Het
Brd1 A T 15: 88,700,887 L915M probably damaging Het
Cacna2d3 T A 14: 28,943,607 E152D possibly damaging Het
Dnase2b A G 3: 146,584,616 probably null Het
Fat4 T C 3: 38,951,032 V1860A probably damaging Het
Fbxl5 C A 5: 43,758,705 G455V probably benign Het
Fpr-rs4 G A 17: 18,022,231 V167M probably damaging Het
Fut7 C A 2: 25,425,331 Y153* probably null Het
Gnptab A G 10: 88,437,495 T1045A probably damaging Het
Gucy1a1 T A 3: 82,108,619 D354V probably damaging Het
Gucy2e A G 11: 69,232,855 V406A possibly damaging Het
Herc2 T C 7: 56,085,142 F160S probably benign Het
Ice2 T G 9: 69,407,332 V42G probably benign Het
L3mbtl4 A G 17: 68,630,202 Y406C probably damaging Het
Lepr C T 4: 101,733,534 T103I probably benign Het
Ly75 T A 2: 60,301,015 M1589L probably benign Het
Map4k3 A G 17: 80,605,809 V644A probably damaging Het
Micall1 A G 15: 79,130,512 D696G possibly damaging Het
Muc4 T C 16: 32,736,402 V8A possibly damaging Het
Myo1h A G 5: 114,314,966 D9G probably damaging Het
Npat T A 9: 53,556,571 D275E possibly damaging Het
Nt5c1b A G 12: 10,374,798 T115A probably benign Het
Olfr429 A G 1: 174,089,556 N172S probably damaging Het
Olfr709-ps1 A T 7: 106,927,420 I13N probably benign Het
Pnpla7 T A 2: 25,050,893 S1086T possibly damaging Het
Pold1 C T 7: 44,533,372 probably null Het
Ppfia1 A G 7: 144,481,719 F1165L probably benign Het
Prlr T A 15: 10,328,718 D426E probably benign Het
Ptgs2 G A 1: 150,103,727 R231H probably damaging Het
Rorc A G 3: 94,388,787 D91G probably damaging Het
Scaper C T 9: 55,912,051 V127M possibly damaging Het
Sema3g A T 14: 31,221,727 Y188F probably damaging Het
Slc45a3 G T 1: 131,978,987 A400S possibly damaging Het
Slc9b2 C A 3: 135,336,395 H478Q probably benign Het
Spg11 T A 2: 122,060,971 H1973L probably damaging Het
Srgap3 A G 6: 112,773,648 Y359H probably damaging Het
Stx16 T G 2: 174,094,020 I248S probably damaging Het
Sytl3 A G 17: 6,735,440 R287G probably damaging Het
Tiam1 T C 16: 89,812,968 T82A probably damaging Het
Trpm1 T C 7: 64,268,889 L659P probably damaging Het
Ttc13 G A 8: 124,673,738 probably benign Het
Unc80 T C 1: 66,551,054 probably null Het
Vldlr G T 19: 27,243,773 R613L probably damaging Het
Wdr77 C T 3: 105,959,686 R35* probably null Het
Zc3h14 T G 12: 98,779,186 I478R possibly damaging Het
Zfp366 A G 13: 99,228,412 H27R probably damaging Het
Other mutations in Nop14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00566:Nop14 APN 5 34641313 unclassified probably benign
IGL00985:Nop14 APN 5 34644789 missense probably damaging 0.98
IGL02676:Nop14 APN 5 34639221 missense probably damaging 0.97
IGL03189:Nop14 APN 5 34650628 unclassified probably benign
IGL03047:Nop14 UTSW 5 34660014 missense possibly damaging 0.93
R0025:Nop14 UTSW 5 34643953 missense probably benign 0.08
R0831:Nop14 UTSW 5 34650520 missense possibly damaging 0.70
R1027:Nop14 UTSW 5 34644004 missense probably damaging 0.99
R1252:Nop14 UTSW 5 34650555 missense probably benign
R1616:Nop14 UTSW 5 34650413 missense possibly damaging 0.46
R1845:Nop14 UTSW 5 34650328 missense possibly damaging 0.82
R2032:Nop14 UTSW 5 34659939 missense possibly damaging 0.65
R3693:Nop14 UTSW 5 34654438 missense probably damaging 0.98
R4033:Nop14 UTSW 5 34650517 missense probably benign
R4168:Nop14 UTSW 5 34656744 missense probably damaging 0.99
R4172:Nop14 UTSW 5 34650607 missense probably damaging 0.99
R4618:Nop14 UTSW 5 34639218 missense probably damaging 1.00
R4936:Nop14 UTSW 5 34652393 missense probably damaging 1.00
R6067:Nop14 UTSW 5 34657951 missense probably damaging 1.00
R6075:Nop14 UTSW 5 34659891 missense probably damaging 1.00
R6078:Nop14 UTSW 5 34657951 missense probably damaging 1.00
R6284:Nop14 UTSW 5 34641491 unclassified probably null
R7295:Nop14 UTSW 5 34639032 missense probably damaging 0.99
U15987:Nop14 UTSW 5 34657951 missense probably damaging 1.00
Posted On2013-12-09