Incidental Mutation 'IGL02185:Nol9'
ID283597
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol9
Ensembl Gene ENSMUSG00000028948
Gene Namenucleolar protein 9
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.967) question?
Stock #IGL02185
Quality Score
Status
Chromosome4
Chromosomal Location152039321-152061494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 152057911 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 666 (I666N)
Ref Sequence ENSEMBL: ENSMUSP00000099486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084116] [ENSMUST00000103197]
Predicted Effect probably damaging
Transcript: ENSMUST00000084116
AA Change: I666N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: I666N

DomainStartEndE-ValueType
low complexity region 24 42 N/A INTRINSIC
low complexity region 45 54 N/A INTRINSIC
low complexity region 79 106 N/A INTRINSIC
low complexity region 281 294 N/A INTRINSIC
Pfam:CLP1_P 322 480 7.5e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103197
AA Change: I666N

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000099486
Gene: ENSMUSG00000028948
AA Change: I666N

DomainStartEndE-ValueType
low complexity region 24 42 N/A INTRINSIC
low complexity region 45 54 N/A INTRINSIC
low complexity region 79 106 N/A INTRINSIC
low complexity region 281 294 N/A INTRINSIC
Pfam:MobB 316 429 5.9e-18 PFAM
Pfam:Clp1 425 665 1.9e-67 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105663
SMART Domains Protein: ENSMUSP00000101288
Gene: ENSMUSG00000028948

DomainStartEndE-ValueType
low complexity region 24 42 N/A INTRINSIC
low complexity region 45 54 N/A INTRINSIC
low complexity region 79 106 N/A INTRINSIC
low complexity region 281 294 N/A INTRINSIC
Pfam:MobB 316 429 5.3e-18 PFAM
Pfam:Clp1 425 627 5.8e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131696
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,197,046 W340R probably damaging Het
Adh5 A G 3: 138,451,054 D167G probably benign Het
Cand2 G A 6: 115,789,510 A359T probably benign Het
Cnnm2 T C 19: 46,762,995 V408A probably benign Het
Eloa A G 4: 136,012,979 probably benign Het
Ern2 T C 7: 122,173,375 probably benign Het
Hs6st3 A G 14: 119,868,884 probably null Het
Hydin A T 8: 110,506,476 I1736F possibly damaging Het
Ifrd2 A T 9: 107,591,091 I253F probably benign Het
Kctd7 G A 5: 130,152,458 V241I possibly damaging Het
Lcp1 T C 14: 75,229,300 F616L possibly damaging Het
Lyst C T 13: 13,661,093 Q1787* probably null Het
Mapkbp1 A T 2: 120,014,663 T342S possibly damaging Het
Mcph1 A G 8: 18,668,990 probably benign Het
Mctp2 T C 7: 72,080,823 H868R probably benign Het
Mefv T C 16: 3,715,850 T186A probably benign Het
Olfr145 A C 9: 37,898,235 Y277S probably damaging Het
Olfr574 T A 7: 102,948,514 N16K probably damaging Het
Olfr775 G T 10: 129,251,035 C167F possibly damaging Het
Pum2 T C 12: 8,748,955 probably null Het
Rpgrip1 A C 14: 52,112,228 K24N possibly damaging Het
Ryr3 T A 2: 112,967,203 T122S probably damaging Het
Sfn A G 4: 133,601,325 S149P probably benign Het
Slc27a2 T A 2: 126,567,816 V306D probably damaging Het
Slc35a1 A G 4: 34,675,584 V81A probably benign Het
Trav21-dv12 A T 14: 53,876,498 D25V probably benign Het
Ttn T C 2: 76,768,534 H11018R possibly damaging Het
Txn1 A T 4: 57,950,883 Y49N probably benign Het
Ulk2 C T 11: 61,782,060 A903T probably damaging Het
Vmn2r77 G A 7: 86,795,152 M4I unknown Het
Vmn2r85 G T 10: 130,418,692 L708I probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vrk2 T A 11: 26,535,638 R117* probably null Het
Xpo6 A T 7: 126,113,808 probably benign Het
Zdhhc14 C A 17: 5,752,882 T420K probably benign Het
Zfp334 G T 2: 165,386,949 probably benign Het
Zfp958 T A 8: 4,628,990 C338* probably null Het
Other mutations in Nol9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Nol9 APN 4 152052015 missense probably benign 0.38
IGL00774:Nol9 APN 4 152052015 missense probably benign 0.38
IGL00885:Nol9 APN 4 152041600 missense probably damaging 1.00
IGL01125:Nol9 APN 4 152046609 missense probably damaging 1.00
IGL01368:Nol9 APN 4 152058391 missense probably benign
IGL01759:Nol9 APN 4 152046043 intron probably benign
IGL01983:Nol9 APN 4 152046037 critical splice donor site probably null
IGL02869:Nol9 APN 4 152046573 missense probably damaging 1.00
IGL02967:Nol9 APN 4 152041102 missense possibly damaging 0.96
R0401:Nol9 UTSW 4 152052605 missense probably benign 0.00
R3721:Nol9 UTSW 4 152039706 missense probably benign 0.07
R4429:Nol9 UTSW 4 152041174 missense probably damaging 1.00
R4460:Nol9 UTSW 4 152057836 missense probably damaging 1.00
R4837:Nol9 UTSW 4 152052095 intron probably benign
R5137:Nol9 UTSW 4 152045971 missense probably damaging 1.00
R5698:Nol9 UTSW 4 152050574 missense probably damaging 0.98
R6190:Nol9 UTSW 4 152041234 missense possibly damaging 0.85
R6317:Nol9 UTSW 4 152041057 missense probably damaging 1.00
R6372:Nol9 UTSW 4 152045995 missense probably damaging 1.00
R6525:Nol9 UTSW 4 152039449 missense probably damaging 0.98
R6551:Nol9 UTSW 4 152051868 missense possibly damaging 0.80
R6580:Nol9 UTSW 4 152051761 missense probably benign 0.00
Posted On2015-04-16