Incidental Mutation 'IGL02608:Nol4l'
ID 300368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol4l
Ensembl Gene ENSMUSG00000061411
Gene Name nucleolar protein 4-like
Synonyms 8430427H17Rik, LOC381396
Accession Numbers
Essential gene? Probably essential (E-score: 0.906) question?
Stock # IGL02608
Quality Score
Status
Chromosome 2
Chromosomal Location 153249381-153371869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 153278213 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 8 (S8P)
Ref Sequence ENSEMBL: ENSMUSP00000105407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035346] [ENSMUST00000109784]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000035346
AA Change: S252P

PolyPhen 2 Score 0.257 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000036571
Gene: ENSMUSG00000061411
AA Change: S252P

DomainStartEndE-ValueType
low complexity region 58 71 N/A INTRINSIC
low complexity region 277 305 N/A INTRINSIC
low complexity region 405 422 N/A INTRINSIC
low complexity region 619 639 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000109784
AA Change: S8P

PolyPhen 2 Score 0.504 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000105407
Gene: ENSMUSG00000061411
AA Change: S8P

DomainStartEndE-ValueType
low complexity region 33 61 N/A INTRINSIC
SCOP:d1sig__ 161 246 1e-2 SMART
low complexity region 375 395 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132770
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas T A 15: 102,247,627 (GRCm39) M415L probably benign Het
Akap6 T C 12: 53,057,389 (GRCm39) S952P probably benign Het
Aldh3a1 A G 11: 61,107,147 (GRCm39) R284G probably damaging Het
Aldh3b1 G T 19: 3,964,061 (GRCm39) H414N probably damaging Het
Chd5 G A 4: 152,440,564 (GRCm39) M141I possibly damaging Het
Cntn2 C T 1: 132,453,654 (GRCm39) A340T possibly damaging Het
Daw1 T A 1: 83,187,055 (GRCm39) C288* probably null Het
Dcn A G 10: 97,319,319 (GRCm39) E32G probably damaging Het
Dock5 C T 14: 68,065,888 (GRCm39) V372M probably benign Het
Etf1 T C 18: 35,064,670 (GRCm39) E13G probably damaging Het
Filip1l A G 16: 57,392,469 (GRCm39) E781G probably benign Het
Gucy1a2 A G 9: 3,635,113 (GRCm39) I386V probably damaging Het
Gvin-ps5 T A 7: 105,928,876 (GRCm39) noncoding transcript Het
Hoxb5 T A 11: 96,195,969 (GRCm39) probably benign Het
Iqch T A 9: 63,329,110 (GRCm39) probably benign Het
Itgal C T 7: 126,909,416 (GRCm39) P423S probably damaging Het
Kti12 T G 4: 108,705,359 (GRCm39) L91R probably damaging Het
Lgals3 T C 14: 47,623,058 (GRCm39) M239T probably benign Het
Lrrc8a T C 2: 30,146,311 (GRCm39) M375T possibly damaging Het
Ly75 T C 2: 60,152,244 (GRCm39) E1103G probably benign Het
Lyst A T 13: 13,887,339 (GRCm39) E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 (GRCm39) probably benign Het
Ncor1 G A 11: 62,264,040 (GRCm39) T180I probably benign Het
Nectin4 T C 1: 171,212,341 (GRCm39) V313A probably benign Het
Npas2 T A 1: 39,384,527 (GRCm39) S607T probably benign Het
Nup155 T A 15: 8,138,955 (GRCm39) M9K probably benign Het
Nwd1 T C 8: 73,394,003 (GRCm39) L422P probably damaging Het
Or14j3 T A 17: 37,901,110 (GRCm39) I45F probably damaging Het
Papola G T 12: 105,775,818 (GRCm39) G245C probably damaging Het
Pcdhb6 T C 18: 37,467,747 (GRCm39) S223P probably damaging Het
Pdcd4 T C 19: 53,915,638 (GRCm39) probably null Het
Pigg T C 5: 108,460,869 (GRCm39) F27L probably damaging Het
Prpf40a A T 2: 53,036,165 (GRCm39) M588K probably damaging Het
Psme4 A G 11: 30,770,944 (GRCm39) N764S probably benign Het
Ptar1 A C 19: 23,683,076 (GRCm39) E110A possibly damaging Het
Rbm12 A T 2: 155,937,818 (GRCm39) probably benign Het
Rfx7 A G 9: 72,524,576 (GRCm39) T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 (GRCm38) noncoding transcript Het
Rpp38 T C 2: 3,330,198 (GRCm39) T235A probably benign Het
Sbno2 A T 10: 79,903,236 (GRCm39) probably null Het
Scn3a A T 2: 65,354,510 (GRCm39) C337* probably null Het
Sec61a2 T C 2: 5,879,073 (GRCm39) T312A probably benign Het
Snrpg C A 6: 86,353,550 (GRCm39) D43E probably damaging Het
Stag1 A T 9: 100,639,822 (GRCm39) Q126L probably null Het
Taar6 A G 10: 23,861,081 (GRCm39) V155A probably benign Het
Tet1 G A 10: 62,715,388 (GRCm39) H136Y possibly damaging Het
Tet1 C A 10: 62,674,866 (GRCm39) S1070I probably damaging Het
Tfcp2 T C 15: 100,411,991 (GRCm39) T327A possibly damaging Het
Tnfrsf13c C T 15: 82,107,364 (GRCm39) V144M probably damaging Het
Tnfrsf22 T A 7: 143,198,533 (GRCm39) K61* probably null Het
Trhr T C 15: 44,061,074 (GRCm39) V198A probably benign Het
Trp53inp2 A G 2: 155,228,569 (GRCm39) R175G probably damaging Het
Try10 G A 6: 41,332,421 (GRCm39) G26R probably damaging Het
Vmn1r205 A G 13: 22,776,370 (GRCm39) V244A probably damaging Het
Wrnip1 T A 13: 32,990,857 (GRCm39) L372H probably damaging Het
Zfp280d T A 9: 72,215,261 (GRCm39) L149Q probably damaging Het
Zfp445 A G 9: 122,690,940 (GRCm39) V85A probably damaging Het
Other mutations in Nol4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Nol4l APN 2 153,319,856 (GRCm39) missense probably damaging 0.96
IGL01325:Nol4l APN 2 153,278,271 (GRCm39) splice site probably benign
IGL02886:Nol4l APN 2 153,371,457 (GRCm39) missense probably benign 0.27
IGL03210:Nol4l APN 2 153,371,378 (GRCm39) missense probably benign 0.03
IGL03055:Nol4l UTSW 2 153,278,190 (GRCm39) synonymous silent
R0285:Nol4l UTSW 2 153,325,773 (GRCm39) splice site probably benign
R0345:Nol4l UTSW 2 153,253,672 (GRCm39) missense probably benign 0.00
R0555:Nol4l UTSW 2 153,259,604 (GRCm39) splice site probably null
R1966:Nol4l UTSW 2 153,371,375 (GRCm39) missense probably benign 0.01
R2044:Nol4l UTSW 2 153,371,441 (GRCm39) missense possibly damaging 0.66
R2368:Nol4l UTSW 2 153,259,959 (GRCm39) missense probably damaging 1.00
R4855:Nol4l UTSW 2 153,253,726 (GRCm39) missense probably benign 0.06
R5696:Nol4l UTSW 2 153,260,026 (GRCm39) missense probably damaging 0.99
R5776:Nol4l UTSW 2 153,259,741 (GRCm39) missense probably damaging 1.00
R6807:Nol4l UTSW 2 153,325,746 (GRCm39) nonsense probably null
R6845:Nol4l UTSW 2 153,258,582 (GRCm39) missense probably benign 0.00
R6872:Nol4l UTSW 2 153,325,737 (GRCm39) missense probably damaging 0.98
R6940:Nol4l UTSW 2 153,253,684 (GRCm39) missense probably benign 0.00
R8165:Nol4l UTSW 2 153,262,473 (GRCm39) nonsense probably null
R8263:Nol4l UTSW 2 153,259,337 (GRCm39) missense probably damaging 0.99
R8500:Nol4l UTSW 2 153,278,266 (GRCm39) missense probably damaging 0.99
R8938:Nol4l UTSW 2 153,262,651 (GRCm39) missense probably damaging 1.00
R9097:Nol4l UTSW 2 153,312,630 (GRCm39) missense probably damaging 0.96
R9098:Nol4l UTSW 2 153,312,630 (GRCm39) missense probably damaging 0.96
R9099:Nol4l UTSW 2 153,312,630 (GRCm39) missense probably damaging 0.96
R9115:Nol4l UTSW 2 153,253,638 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16