Incidental Mutation 'IGL00933:Nol4l'
ID26916
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: 0.917) question?
Stock #IGL00933
Quality Score
Status
Chromosome2
Chromosomal Location153407462-153529971 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 153477936 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 175 (F175S)
Ref Sequence ENSEMBL: ENSMUSP00000036571 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035346]
Predicted Effect probably damaging
Transcript: ENSMUST00000035346
AA Change: F175S

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000036571
Gene: ENSMUSG00000061411
AA Change: F175S

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 noncoding transcript
Transcript: ENSMUST00000129385
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137553
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156786
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc3 T A 13: 80,891,055 probably benign Het
Brca2 A G 5: 150,542,404 S1878G probably benign Het
Cpa6 T C 1: 10,337,370 H314R probably benign Het
Ehbp1l1 A G 19: 5,717,933 I1114T probably benign Het
Eml3 G A 19: 8,936,398 W73* probably null Het
Fmo4 G T 1: 162,794,023 Q540K probably benign Het
Fstl4 G A 11: 53,186,761 G782R possibly damaging Het
Itga11 T C 9: 62,769,305 I925T possibly damaging Het
Itsn2 T G 12: 4,707,540 F1411C probably damaging Het
Lmna A T 3: 88,482,549 C590S possibly damaging Het
Magi3 A G 3: 104,015,847 Y1185H probably benign Het
Marf1 A G 16: 14,117,357 Y1516H probably damaging Het
Mast4 T C 13: 102,735,366 D2306G probably damaging Het
Ncoa6 A G 2: 155,415,397 V742A probably damaging Het
Olfr826 A T 10: 130,180,214 M222K probably benign Het
Orm2 T C 4: 63,364,152 probably benign Het
Pik3cb T A 9: 99,101,286 T90S probably damaging Het
Plekhg2 G A 7: 28,360,689 P1072S probably benign Het
Rgr A T 14: 37,038,918 Y227* probably null Het
Snd1 T C 6: 28,512,986 probably null Het
Zfp560 A G 9: 20,348,808 S253P probably benign Het
Other mutations in Nol4l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01325:Nol4l APN 2 153436351 splice site probably benign
IGL02608:Nol4l APN 2 153436293 missense possibly damaging 0.50
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
Posted On2013-04-17