Incidental Mutation 'IGL02538:Nol11'
ID297606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol11
Ensembl Gene ENSMUSG00000018433
Gene Namenucleolar protein 11
Synonyms1500002M01Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.939) question?
Stock #IGL02538
Quality Score
Status
Chromosome11
Chromosomal Location107166663-107189381 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 107173373 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 518 (M518L)
Ref Sequence ENSEMBL: ENSMUSP00000102368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018577] [ENSMUST00000106757]
Predicted Effect probably benign
Transcript: ENSMUST00000018577
AA Change: M538L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000018577
Gene: ENSMUSG00000018433
AA Change: M538L

DomainStartEndE-ValueType
SCOP:d1jmxb_ 32 176 3e-3 SMART
Pfam:NUC205 200 243 3.7e-26 PFAM
low complexity region 619 629 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106757
AA Change: M518L

PolyPhen 2 Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000102368
Gene: ENSMUSG00000018433
AA Change: M518L

DomainStartEndE-ValueType
SCOP:d1jmxb_ 32 176 3e-3 SMART
Pfam:NUC205 200 243 7.3e-29 PFAM
low complexity region 599 609 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000117751
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122966
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T A 2: 69,306,605 I171L possibly damaging Het
Amdhd1 C T 10: 93,527,246 V327I probably damaging Het
Ankrd1 T C 19: 36,115,056 H257R probably damaging Het
Ano5 G A 7: 51,583,775 R595H probably damaging Het
Atg2a A G 19: 6,257,628 T1531A probably benign Het
Bsn A G 9: 108,105,236 S1001P unknown Het
Btn1a1 T C 13: 23,459,215 T355A possibly damaging Het
Cd22 G T 7: 30,877,560 N107K probably benign Het
Ceacam10 A G 7: 24,778,483 H141R probably damaging Het
Chil3 T C 3: 106,164,129 D73G probably damaging Het
Cit C T 5: 115,986,989 Q1536* probably null Het
Dmgdh T A 13: 93,708,753 I418K possibly damaging Het
Efcab6 T A 15: 84,054,521 probably benign Het
Eif4g2 T C 7: 111,079,316 I110V probably benign Het
Fam217a T C 13: 34,911,113 Y221C probably damaging Het
Fezf1 T A 6: 23,246,558 K342N probably damaging Het
Git2 A T 5: 114,730,986 probably benign Het
Gm4951 A T 18: 60,245,872 K160* probably null Het
Gm8126 A T 14: 43,259,590 R63W probably benign Het
Ica1l T C 1: 60,010,186 K203E probably benign Het
Inpp5d A G 1: 87,695,366 M393V probably null Het
Kbtbd11 A G 8: 15,028,841 D480G probably damaging Het
Klhl1 T C 14: 96,240,213 N473S probably benign Het
Krt2 A G 15: 101,811,154 S694P unknown Het
Lhfp C T 3: 53,043,311 A2V probably benign Het
Lipk T A 19: 34,046,879 L354Q probably damaging Het
Luzp2 T A 7: 55,211,798 L225* probably null Het
Mknk1 C T 4: 115,860,091 Q58* probably null Het
Mut A T 17: 40,938,619 I162F probably damaging Het
Nubpl T C 12: 52,310,694 probably benign Het
Nup35 T A 2: 80,644,219 S93R possibly damaging Het
Olfr330 T C 11: 58,529,990 probably benign Het
Olfr992 T A 2: 85,400,303 I77F probably damaging Het
Pex3 T C 10: 13,535,600 E178G possibly damaging Het
Rad23b C A 4: 55,370,457 P161Q possibly damaging Het
Sipa1l2 A G 8: 125,451,977 S1128P probably damaging Het
Terb2 T C 2: 122,204,808 probably benign Het
Trim72 A G 7: 128,004,770 Y96C probably damaging Het
Tyk2 T C 9: 21,111,043 D830G possibly damaging Het
Uri1 A G 7: 37,965,491 S259P probably benign Het
Usp38 A T 8: 80,985,558 L616H probably damaging Het
Uspl1 T A 5: 149,188,459 C73S probably damaging Het
Wdr7 C A 18: 63,796,235 D1047E probably benign Het
Other mutations in Nol11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00646:Nol11 APN 11 107173460 missense probably benign
IGL01656:Nol11 APN 11 107189172 missense probably benign 0.00
IGL01687:Nol11 APN 11 107186869 missense probably damaging 0.97
IGL02179:Nol11 APN 11 107189256 start codon destroyed probably null 1.00
IGL03395:Nol11 APN 11 107175722 missense probably benign 0.06
R0526:Nol11 UTSW 11 107184771 nonsense probably null
R1734:Nol11 UTSW 11 107175623 missense possibly damaging 0.80
R2143:Nol11 UTSW 11 107181055 missense probably benign 0.03
R2385:Nol11 UTSW 11 107189206 missense probably benign 0.40
R3036:Nol11 UTSW 11 107173244 missense possibly damaging 0.87
R3522:Nol11 UTSW 11 107173628 missense possibly damaging 0.94
R3895:Nol11 UTSW 11 107168347 missense probably damaging 1.00
R4404:Nol11 UTSW 11 107173725 missense probably damaging 1.00
R4664:Nol11 UTSW 11 107181000 missense possibly damaging 0.89
R4705:Nol11 UTSW 11 107184718 intron probably benign
R5704:Nol11 UTSW 11 107173369 missense probably benign 0.43
R5991:Nol11 UTSW 11 107171145 missense probably benign 0.02
R6221:Nol11 UTSW 11 107171616 missense possibly damaging 0.50
R6222:Nol11 UTSW 11 107171616 missense possibly damaging 0.50
R6223:Nol11 UTSW 11 107171616 missense possibly damaging 0.50
R6285:Nol11 UTSW 11 107181034 missense probably benign 0.01
R6467:Nol11 UTSW 11 107181086 missense possibly damaging 0.95
R7080:Nol11 UTSW 11 107180052 missense probably damaging 1.00
Posted On2015-04-16