Incidental Mutation 'IGL02608:Nol4l'
ID300368
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol4l
Ensembl Gene ENSMUSG00000061411
Gene Namenucleolar protein 4-like
SynonymsLOC381396, 8430427H17Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.896) question?
Stock #IGL02608
Quality Score
Status
Chromosome2
Chromosomal Location153407462-153529971 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153436293 bp
ZygosityHeterozygous
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: 102,339,192 M415L probably benign Het
Akap6 T C 12: 53,010,606 S952P probably benign Het
Aldh3a1 A G 11: 61,216,321 R284G probably damaging Het
Aldh3b1 G T 19: 3,914,061 H414N probably damaging Het
Chd5 G A 4: 152,356,107 M141I possibly damaging Het
Cntn2 C T 1: 132,525,916 A340T possibly damaging Het
Daw1 T A 1: 83,209,334 C288* probably null Het
Dcn A G 10: 97,483,457 E32G probably damaging Het
Dock5 C T 14: 67,828,439 V372M probably benign Het
Etf1 T C 18: 34,931,617 E13G probably damaging Het
Filip1l A G 16: 57,572,106 E781G probably benign Het
Gm8989 T A 7: 106,329,669 noncoding transcript Het
Gucy1a2 A G 9: 3,635,113 I386V probably damaging Het
Hoxb5 T A 11: 96,305,143 probably benign Het
Iqch T A 9: 63,421,828 probably benign Het
Itgal C T 7: 127,310,244 P423S probably damaging Het
Kti12 T G 4: 108,848,162 L91R probably damaging Het
Lgals3 T C 14: 47,385,601 M239T probably benign Het
Lrrc8a T C 2: 30,256,299 M375T possibly damaging Het
Ly75 T C 2: 60,321,900 E1103G probably benign Het
Lyst A T 13: 13,712,754 E3056V probably damaging Het
Map3k7 T C 4: 31,981,452 probably benign Het
Ncor1 G A 11: 62,373,214 T180I probably benign Het
Nectin4 T C 1: 171,384,773 V313A probably benign Het
Npas2 T A 1: 39,345,446 S607T probably benign Het
Nup155 T A 15: 8,109,471 M9K probably benign Het
Nwd1 T C 8: 72,667,375 L422P probably damaging Het
Olfr114 T A 17: 37,590,219 I45F probably damaging Het
Papola G T 12: 105,809,559 G245C probably damaging Het
Pcdhb6 T C 18: 37,334,694 S223P probably damaging Het
Pdcd4 T C 19: 53,927,207 probably null Het
Pigg T C 5: 108,313,003 F27L probably damaging Het
Prpf40a A T 2: 53,146,153 M588K probably damaging Het
Psme4 A G 11: 30,820,944 N764S probably benign Het
Ptar1 A C 19: 23,705,712 E110A possibly damaging Het
Rbm12 A T 2: 156,095,898 probably benign Het
Rfx7 A G 9: 72,617,294 T589A probably benign Het
Rpl21-ps4 G T 14: 11,227,831 noncoding transcript Het
Rpp38 T C 2: 3,329,161 T235A probably benign Het
Sbno2 A T 10: 80,067,402 probably null Het
Scn3a A T 2: 65,524,166 C337* probably null Het
Sec61a2 T C 2: 5,874,262 T312A probably benign Het
Snrpg C A 6: 86,376,568 D43E probably damaging Het
Stag1 A T 9: 100,757,769 Q126L probably null Het
Taar6 A G 10: 23,985,183 V155A probably benign Het
Tet1 G A 10: 62,879,609 H136Y possibly damaging Het
Tet1 C A 10: 62,839,087 S1070I probably damaging Het
Tfcp2 T C 15: 100,514,110 T327A possibly damaging Het
Tnfrsf13c C T 15: 82,223,163 V144M probably damaging Het
Tnfrsf22 T A 7: 143,644,796 K61* probably null Het
Trhr T C 15: 44,197,678 V198A probably benign Het
Trp53inp2 A G 2: 155,386,649 R175G probably damaging Het
Try10 G A 6: 41,355,487 G26R probably damaging Het
Vmn1r205 A G 13: 22,592,200 V244A probably damaging Het
Wrnip1 T A 13: 32,806,874 L372H probably damaging Het
Zfp280d T A 9: 72,307,979 L149Q probably damaging Het
Zfp445 A G 9: 122,861,875 V85A probably damaging Het
Other mutations in Nol4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Nol4l APN 2 153477936 missense probably damaging 0.96
IGL01325:Nol4l APN 2 153436351 splice site probably benign
IGL02886:Nol4l APN 2 153529537 missense probably benign 0.27
IGL03210:Nol4l APN 2 153529458 missense probably benign 0.03
IGL03055:Nol4l UTSW 2 153436270 synonymous silent
R0285:Nol4l UTSW 2 153483853 splice site probably benign
R0345:Nol4l UTSW 2 153411752 missense probably benign 0.00
R0555:Nol4l UTSW 2 153417684 splice site probably null
R1966:Nol4l UTSW 2 153529455 missense probably benign 0.01
R2044:Nol4l UTSW 2 153529521 missense possibly damaging 0.66
R2368:Nol4l UTSW 2 153418039 missense probably damaging 1.00
R4855:Nol4l UTSW 2 153411806 missense probably benign 0.06
R5696:Nol4l UTSW 2 153418106 missense probably damaging 0.99
R5776:Nol4l UTSW 2 153417821 missense probably damaging 1.00
R6807:Nol4l UTSW 2 153483826 nonsense probably null
R6845:Nol4l UTSW 2 153416662 missense probably benign 0.00
R6872:Nol4l UTSW 2 153483817 missense probably damaging 0.98
R6940:Nol4l UTSW 2 153411764 missense probably benign 0.00
R8165:Nol4l UTSW 2 153420553 nonsense probably null
R8263:Nol4l UTSW 2 153417417 missense probably damaging 0.99
R8500:Nol4l UTSW 2 153436346 missense probably damaging 0.99
R8938:Nol4l UTSW 2 153420731 missense probably damaging 1.00
R9097:Nol4l UTSW 2 153470710 missense probably damaging 0.96
R9098:Nol4l UTSW 2 153470710 missense probably damaging 0.96
R9099:Nol4l UTSW 2 153470710 missense probably damaging 0.96
R9115:Nol4l UTSW 2 153411718 missense probably damaging 1.00
Posted On2015-04-16