Incidental Mutation 'R8079:Nop14'
ID 629192
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 # R8079 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
Chromosomal Location 34795880-34817492 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 34811805 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Histidine at position 194 (L194H)
Ref Sequence ENSEMBL: ENSMUSP00000038382 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041364]
AlphaFold Q8R3N1
Predicted Effect probably damaging
Transcript: ENSMUST00000041364
AA Change: L194H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000038382
Gene: ENSMUSG00000036693
AA Change: L194H

DomainStartEndE-ValueType
Pfam:Nop14 21 849 2.2e-273 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 99.0%
  • 20x: 96.5%
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: 86 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb9 A G 5: 124,221,186 (GRCm39) I255T possibly damaging Het
Ablim1 A T 19: 57,170,656 (GRCm39) probably null Het
Akap10 G A 11: 61,820,880 (GRCm39) P8L possibly damaging Het
Ankle2 C T 5: 110,379,182 (GRCm39) A27V probably damaging Het
Anxa8 A G 14: 33,816,769 (GRCm39) T246A probably benign Het
Arhgap5 A G 12: 52,613,988 (GRCm39) N1460S probably benign Het
Arid5b T G 10: 67,934,186 (GRCm39) D572A possibly damaging Het
Atrn T A 2: 130,855,561 (GRCm39) L1278Q probably null Het
AU040320 G T 4: 126,725,953 (GRCm39) K454N possibly damaging Het
Baz2b T A 2: 59,731,112 (GRCm39) R2085W probably damaging Het
Bbx A T 16: 50,030,821 (GRCm39) N649K probably damaging Het
BC034090 G A 1: 155,101,032 (GRCm39) P411S probably damaging Het
Calcoco2 A T 11: 95,998,363 (GRCm39) F20Y probably damaging Het
Carmil2 A G 8: 106,413,393 (GRCm39) R50G probably damaging Het
Catspere2 A G 1: 177,874,525 (GRCm39) T131A probably benign Het
Cdcp1 C A 9: 123,002,855 (GRCm39) V739L probably damaging Het
Chit1 A G 1: 134,071,765 (GRCm39) T92A possibly damaging Het
Clstn3 A G 6: 124,436,763 (GRCm39) I185T probably damaging Het
Dctpp1 C A 7: 126,858,561 (GRCm39) V61L probably damaging Het
Dip2a T C 10: 76,123,155 (GRCm39) T760A probably benign Het
Dock10 C T 1: 80,556,421 (GRCm39) V552I probably benign Het
Dpp8 A G 9: 64,951,017 (GRCm39) E151G probably damaging Het
Dvl2 G C 11: 69,898,344 (GRCm39) R367P possibly damaging Het
Fem1b A T 9: 62,703,643 (GRCm39) I539N probably damaging Het
Frat2 A T 19: 41,836,277 (GRCm39) L25H probably damaging Het
Garnl3 A T 2: 32,908,511 (GRCm39) probably null Het
Gh T C 11: 106,192,253 (GRCm39) H47R possibly damaging Het
Glmp T C 3: 88,233,045 (GRCm39) V61A probably damaging Het
Gm9925 T C 18: 74,198,558 (GRCm39) V129A unknown Het
H2-M9 T A 17: 36,953,025 (GRCm39) E94V probably benign Het
Hira A T 16: 18,744,507 (GRCm39) Q408L probably benign Het
Hook3 A G 8: 26,578,086 (GRCm39) probably null Het
Ifi206 G A 1: 173,308,724 (GRCm39) P424L Het
Impdh2 T C 9: 108,440,524 (GRCm39) V270A probably benign Het
Klhl14 A G 18: 21,785,022 (GRCm39) I135T probably benign Het
Klra10 C A 6: 130,252,738 (GRCm39) V179L probably benign Het
Kmt2c T C 5: 25,507,730 (GRCm39) S3236G probably damaging Het
Krt76 G T 15: 101,796,825 (GRCm39) A358D possibly damaging Het
Lacc1 C A 14: 77,266,992 (GRCm39) G424C probably damaging Het
Limch1 A G 5: 67,204,096 (GRCm39) I878V possibly damaging Het
Lipi C T 16: 75,362,418 (GRCm39) probably null Het
Lrrc17 C T 5: 21,766,069 (GRCm39) R184W probably damaging Het
Mllt10 A G 2: 18,128,567 (GRCm39) N183D probably damaging Het
Mterf2 C T 10: 84,956,027 (GRCm39) G199D probably damaging Het
Mucl3 T C 17: 35,949,084 (GRCm39) T172A unknown Het
Nat8f4 A T 6: 85,877,976 (GRCm39) S182R probably benign Het
Ndrg3 C A 2: 156,779,452 (GRCm39) E238* probably null Het
Obscn T C 11: 58,972,731 (GRCm39) E2105G possibly damaging Het
Or5b104 A C 19: 13,072,648 (GRCm39) Y121* probably null Het
Or5g9 A T 2: 85,552,387 (GRCm39) T213S probably benign Het
Or7g17 A T 9: 18,768,725 (GRCm39) Y259F possibly damaging Het
Or8k32 T A 2: 86,368,725 (GRCm39) H176L possibly damaging Het
Pbx3 C T 2: 34,068,240 (GRCm39) A320T probably benign Het
Pcdhac2 A T 18: 37,279,197 (GRCm39) S726C probably damaging Het
Pcdhgb2 A G 18: 37,823,816 (GRCm39) D269G probably damaging Het
Pcgf6 A T 19: 47,034,271 (GRCm39) S257T probably damaging Het
Pclo A T 5: 14,590,472 (GRCm39) H924L unknown Het
Per3 T A 4: 151,127,135 (GRCm39) T129S possibly damaging Het
Pi4ka A T 16: 17,120,924 (GRCm39) M1270K Het
Plec G A 15: 76,063,750 (GRCm39) Q2277* probably null Het
Pnma1 T A 12: 84,194,109 (GRCm39) K198M probably damaging Het
Prc1 T A 7: 79,954,515 (GRCm39) F196L possibly damaging Het
Prkcz T C 4: 155,441,962 (GRCm39) T57A probably damaging Het
Repin1 G T 6: 48,574,279 (GRCm39) E403* probably null Het
Robo4 A G 9: 37,313,931 (GRCm39) M61V possibly damaging Het
Rps12 C T 10: 23,661,575 (GRCm39) V79I probably benign Het
Rsph3a A G 17: 8,198,020 (GRCm39) K466E probably benign Het
Scly A T 1: 91,236,089 (GRCm39) I168F probably damaging Het
Setd1a T A 7: 127,384,225 (GRCm39) F359I unknown Het
Sh3tc1 A G 5: 35,864,201 (GRCm39) L662P possibly damaging Het
Slc12a5 T C 2: 164,834,372 (GRCm39) W798R probably damaging Het
Slc16a6 C T 11: 109,364,281 (GRCm39) R13Q unknown Het
Slco1a8 T G 6: 141,933,460 (GRCm39) M462L probably benign Het
Smarcad1 A G 6: 65,029,766 (GRCm39) D118G possibly damaging Het
Sos2 T C 12: 69,653,989 (GRCm39) T788A probably damaging Het
Syvn1 A G 19: 6,098,396 (GRCm39) E75G probably null Het
Thpo T C 16: 20,545,144 (GRCm39) E103G probably benign Het
Trav7d-3 A T 14: 52,982,193 (GRCm39) E78V possibly damaging Het
Uap1 A G 1: 169,986,332 (GRCm39) S217P probably damaging Het
Unc45a T G 7: 79,981,310 (GRCm39) R497S probably damaging Het
Upf1 A G 8: 70,791,534 (GRCm39) probably null Het
Usp47 A T 7: 111,646,177 (GRCm39) K28M probably damaging Het
Wdr72 A C 9: 74,126,054 (GRCm39) T1062P probably damaging Het
Wnt7b A T 15: 85,421,646 (GRCm39) C339S probably damaging Het
Zfp954 G T 7: 7,118,470 (GRCm39) T358K probably benign Het
Zmynd15 G T 11: 70,350,278 (GRCm39) 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
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
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
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'- ACATCAACATCAGAGGTGTAAGC -3'
(R):5'- TAAAACTGCCCTTGGAGAAGCG -3'

Sequencing Primer
(F):5'- CAACATCAGAGGTGTAAGCTTAATG -3'
(R):5'- AGCGTTGACAGAGTTCTACC -3'
Posted On 2020-06-30