Incidental Mutation 'R6284:Nop14'
ID 529324
Institutional Source Beutler Lab
Gene Symbol Nop14
Ensembl Gene ENSMUSG00000036693
Gene Name NOP14 nucleolar protein
Synonyms Nol14, 2610033H07Rik
MMRRC Submission 044454-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R6284 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 34795880-34817492 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 34798835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001109] [ENSMUST00000041364] [ENSMUST00000041364] [ENSMUST00000114329] [ENSMUST00000114331] [ENSMUST00000124668] [ENSMUST00000126257] [ENSMUST00000149657] [ENSMUST00000137150] [ENSMUST00000155577]
AlphaFold Q8R3N1
Predicted Effect probably null
Transcript: ENSMUST00000001109
SMART Domains Protein: ENSMUSP00000001109
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 413 6.9e-41 PFAM
Pfam:Sugar_tr 62 235 7.9e-9 PFAM
transmembrane domain 422 444 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000041364
SMART Domains Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693

DomainStartEndE-ValueType
Pfam:Nop14 21 849 2.2e-273 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000041364
SMART Domains Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693

DomainStartEndE-ValueType
Pfam:Nop14 21 849 2.2e-273 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000114329
SMART Domains Protein: ENSMUSP00000109968
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 413 6.8e-41 PFAM
Pfam:Sugar_tr 71 228 2.3e-9 PFAM
transmembrane domain 422 444 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000114331
SMART Domains Protein: ENSMUSP00000109970
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 413 6.8e-41 PFAM
Pfam:Sugar_tr 71 228 2.3e-9 PFAM
transmembrane domain 422 444 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000124668
SMART Domains Protein: ENSMUSP00000119140
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126257
SMART Domains Protein: ENSMUSP00000144630
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 139 5.8e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000149657
SMART Domains Protein: ENSMUSP00000118786
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 261 1.3e-26 PFAM
Pfam:Sugar_tr 71 228 9.3e-10 PFAM
Pfam:TRI12 76 232 3.4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137150
SMART Domains Protein: ENSMUSP00000120814
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
transmembrane domain 25 47 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000155577
SMART Domains Protein: ENSMUSP00000115204
Gene: ENSMUSG00000001082

DomainStartEndE-ValueType
Pfam:MFS_1 29 269 1.1e-27 PFAM
Pfam:Sugar_tr 71 228 9.6e-10 PFAM
Pfam:TRI12 76 232 3.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152393
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137744
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138212
Predicted Effect probably benign
Transcript: ENSMUST00000201897
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 100% (64/64)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610030E20Rik G T 6: 72,324,437 (GRCm39) G16C probably damaging Het
Abca7 G A 10: 79,840,244 (GRCm39) V801I probably benign Het
Adgrl2 A T 3: 148,532,143 (GRCm39) L1030Q probably damaging Het
Akap1 T C 11: 88,735,394 (GRCm39) T423A possibly damaging Het
Anpep T A 7: 79,475,550 (GRCm39) D111V probably damaging Het
Atm T A 9: 53,356,676 (GRCm39) probably null Het
Atp5f1a T A 18: 77,866,168 (GRCm39) S106T probably benign Het
Atp5me T C 5: 108,581,925 (GRCm39) I20V probably benign Het
Atp6v0d2 T A 4: 19,922,605 (GRCm39) probably null Het
Bclaf1 T G 10: 20,197,906 (GRCm39) probably null Het
Bod1l A G 5: 41,976,130 (GRCm39) V1728A probably benign Het
Braf A G 6: 39,665,216 (GRCm39) F51L possibly damaging Het
Camsap2 A G 1: 136,232,175 (GRCm39) I140T possibly damaging Het
Ccdc24 A T 4: 117,726,850 (GRCm39) probably null Het
Cdh26 G C 2: 178,091,677 (GRCm39) G79R probably damaging Het
Cenpf A G 1: 189,384,939 (GRCm39) L2447P probably damaging Het
Cfap74 T C 4: 155,536,253 (GRCm39) F863L probably damaging Het
Clstn2 C T 9: 97,336,727 (GRCm39) G917S probably benign Het
Col6a6 A T 9: 105,604,426 (GRCm39) probably null Het
Cul5 G A 9: 53,535,035 (GRCm39) P596L probably damaging Het
Dst A T 1: 34,268,166 (GRCm39) R2863W probably damaging Het
Dthd1 A G 5: 62,971,384 (GRCm39) E69G possibly damaging Het
Elp1 A T 4: 56,762,281 (GRCm39) I1106K probably damaging Het
Erich2 T A 2: 70,370,028 (GRCm39) I402N probably damaging Het
Fam162b T C 10: 51,461,598 (GRCm39) K155R probably damaging Het
Fhip1a G A 3: 85,579,995 (GRCm39) P737S probably benign Het
Glb1l2 A T 9: 26,678,744 (GRCm39) S466T probably benign Het
Kazn G A 4: 141,844,508 (GRCm39) L402F probably benign Het
Kcnj13 A T 1: 87,314,608 (GRCm39) S205T probably damaging Het
Lama1 T A 17: 68,117,091 (GRCm39) V2462E probably damaging Het
Lce1b A C 3: 92,563,411 (GRCm39) C41G unknown Het
Lyar T A 5: 38,383,339 (GRCm39) W77R probably damaging Het
Marchf11 G A 15: 26,409,432 (GRCm39) R377Q probably benign Het
Mis18bp1 A G 12: 65,185,561 (GRCm39) F869L probably benign Het
Myom1 T A 17: 71,329,887 (GRCm39) Y6* probably null Het
Myzap T C 9: 71,466,207 (GRCm39) I150V probably benign Het
Oprl1 T A 2: 181,359,784 (GRCm39) probably benign Het
Pacsin1 T C 17: 27,927,478 (GRCm39) L432P probably damaging Het
Peak1 A G 9: 56,167,580 (GRCm39) L116P probably benign Het
Plcb2 C T 2: 118,547,782 (GRCm39) V482M probably benign Het
Pnliprp1 T A 19: 58,723,416 (GRCm39) I269N probably damaging Het
Pnpla7 C A 2: 24,906,630 (GRCm39) D664E possibly damaging Het
Ppa2 G A 3: 133,076,178 (GRCm39) R269H probably benign Het
Rps6kb2 G T 19: 4,211,186 (GRCm39) T113K probably benign Het
Rrp7a A T 15: 83,006,061 (GRCm39) I63N probably damaging Het
Slc29a1 A G 17: 45,900,847 (GRCm39) probably null Het
Slco1a7 T C 6: 141,671,119 (GRCm39) D451G probably damaging Het
Stxbp5 C A 10: 9,642,931 (GRCm39) G1056V probably damaging Het
Stxbp5 A C 10: 9,642,923 (GRCm39) S1059A probably benign Het
Taldo1 T A 7: 140,978,496 (GRCm39) S149T possibly damaging Het
Tlr1 T C 5: 65,084,442 (GRCm39) D45G possibly damaging Het
Tnrc6a T C 7: 122,770,558 (GRCm39) S783P probably damaging Het
Trap1 A G 16: 3,878,673 (GRCm39) Y220H probably benign Het
Trpc6 A G 9: 8,643,601 (GRCm39) D462G possibly damaging Het
Ttc21a A G 9: 119,773,028 (GRCm39) E235G probably damaging Het
Tubb4a A G 17: 57,387,833 (GRCm39) Y398H probably damaging Het
Ube2z A G 11: 95,941,233 (GRCm39) F303S probably damaging Het
Vmn1r211 A G 13: 23,036,254 (GRCm39) S138P probably damaging Het
Zfp1002 T A 2: 150,097,198 (GRCm39) Y77F possibly damaging Het
Zfp93 T A 7: 23,975,054 (GRCm39) C346* probably null Het
Zfp938 A T 10: 82,063,400 (GRCm39) S52R possibly damaging Het
Zp1 A T 19: 10,893,867 (GRCm39) L446Q 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
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
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'- CCTGGTGTGATTTGCCTCAG -3'
(R):5'- GGAGCTTTCCTCACAGGTATC -3'

Sequencing Primer
(F):5'- GATTTGCCTCAGTCGCTGTCAG -3'
(R):5'- CCTCCTGAATGCTGGCATTAAAGG -3'
Posted On 2018-07-27