Incidental Mutation 'IGL00885:Nol9'
ID27187
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 #IGL00885
Quality Score
Status
Chromosome4
Chromosomal Location152039321-152061494 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 152041600 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 253 (F253L)
Ref Sequence ENSEMBL: ENSMUSP00000099486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030792] [ENSMUST00000084116] [ENSMUST00000103197]
Predicted Effect probably benign
Transcript: ENSMUST00000030792
SMART Domains Protein: ENSMUSP00000030792
Gene: ENSMUSG00000028950

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:ANF_receptor 75 456 1.7e-69 PFAM
Pfam:NCD3G 494 546 2.1e-15 PFAM
Pfam:7tm_3 578 815 3.9e-33 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000084116
AA Change: F253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081133
Gene: ENSMUSG00000028948
AA Change: F253L

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: F253L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099486
Gene: ENSMUSG00000028948
AA Change: F253L

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 unknown
Transcript: ENSMUST00000131696
AA Change: F250L
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147797
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf2 A T 17: 42,714,315 probably benign Het
Adora2a T G 10: 75,333,451 F250V probably damaging Het
Atp8b5 T C 4: 43,355,567 S516P probably damaging Het
Btbd16 A G 7: 130,788,822 I150V probably damaging Het
Capn13 A T 17: 73,339,425 I331N possibly damaging Het
Capzb A G 4: 139,287,050 S233G probably benign Het
Clasp2 A G 9: 113,911,416 R1171G probably damaging Het
Col16a1 T G 4: 130,096,910 I1419S probably damaging Het
Coro7 T A 16: 4,635,026 Y286F probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Cyp11b2 T C 15: 74,853,515 T252A probably benign Het
Daam1 T A 12: 71,944,091 C160S unknown Het
Ephx4 T C 5: 107,406,125 probably benign Het
Fbxo47 A T 11: 97,878,120 D63E probably benign Het
Fgf3 A T 7: 144,840,784 probably benign Het
Fstl4 C T 11: 53,148,982 T331I possibly damaging Het
Gm597 T C 1: 28,776,845 E702G unknown Het
Gpr158 T C 2: 21,649,021 F467S probably damaging Het
Igfbpl1 C T 4: 45,826,478 V106I probably damaging Het
Ikzf2 T C 1: 69,539,322 T271A possibly damaging Het
Kat14 T A 2: 144,394,255 N302K probably benign Het
Kmt2c G T 5: 25,409,171 Q184K possibly damaging Het
Moxd2 A G 6: 40,884,179 probably benign Het
Nbeal2 C A 9: 110,638,661 E479D probably damaging Het
Neo1 A G 9: 58,888,463 L1231P probably damaging Het
Nfatc3 C T 8: 106,099,177 P620L probably damaging Het
Nutm2 T A 13: 50,474,860 S653R probably benign Het
Olfr138 A C 17: 38,274,899 I43L probably benign Het
Olfr1504 A T 19: 13,888,168 M14K probably benign Het
Plcg1 A G 2: 160,758,083 D921G probably benign Het
Plpp4 A T 7: 129,321,533 I101F probably damaging Het
Psg17 A T 7: 18,820,166 L53Q probably damaging Het
Ptpn4 A T 1: 119,802,363 I20N possibly damaging Het
R3hdm1 A T 1: 128,236,438 I1030L probably damaging Het
Rpl7 A C 1: 16,102,583 S171A possibly damaging Het
Snx25 G A 8: 46,038,476 T859M probably damaging Het
Tmem94 A G 11: 115,795,328 M990V probably damaging Het
Tnnt2 A G 1: 135,846,764 probably benign Het
Ttn T C 2: 76,709,685 H34319R possibly damaging Het
Vmn1r72 A G 7: 11,670,497 V8A probably benign Het
Zbtb41 A G 1: 139,430,324 T457A probably benign 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
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
IGL02185:Nol9 APN 4 152057911 missense probably damaging 1.00
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 On2013-04-17