Incidental Mutation 'IGL01687:Nol11'
ID 103989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol11
Ensembl Gene ENSMUSG00000018433
Gene Name nucleolar protein 11
Synonyms 1500002M01Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.933) question?
Stock # IGL01687
Quality Score
Status
Chromosome 11
Chromosomal Location 107057489-107080207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 107077695 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Methionine at position 65 (I65M)
Ref Sequence ENSEMBL: ENSMUSP00000102368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018577] [ENSMUST00000106757]
AlphaFold Q8BJW5
Predicted Effect probably damaging
Transcript: ENSMUST00000018577
AA Change: I65M

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000018577
Gene: ENSMUSG00000018433
AA Change: I65M

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 damaging
Transcript: ENSMUST00000106757
AA Change: I65M

PolyPhen 2 Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000102368
Gene: ENSMUSG00000018433
AA Change: I65M

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: ENSMUST00000119942
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136917
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139168
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,306,769 (GRCm39) probably benign Het
Cep290 C T 10: 100,336,067 (GRCm39) T375M probably damaging Het
Col1a2 A T 6: 4,520,258 (GRCm39) R348* probably null Het
Dph6 A T 2: 114,475,259 (GRCm39) Y85* probably null Het
Etl4 C T 2: 20,534,898 (GRCm39) H118Y probably damaging Het
Gprc5b A G 7: 118,583,209 (GRCm39) F220S possibly damaging Het
Larp4 A G 15: 99,894,369 (GRCm39) T213A probably damaging Het
Mfn1 T C 3: 32,617,515 (GRCm39) probably benign Het
Myo5a T C 9: 75,063,531 (GRCm39) V579A probably benign Het
Or2k2 A T 4: 58,785,047 (GRCm39) L225Q probably damaging Het
Pcdh18 T C 3: 49,707,982 (GRCm39) probably benign Het
Prss30 T C 17: 24,194,106 (GRCm39) T17A probably benign Het
Rab11fip3 A G 17: 26,286,956 (GRCm39) L399P probably damaging Het
Slc44a2 T C 9: 21,257,243 (GRCm39) V396A probably benign Het
Tns3 A G 11: 8,442,798 (GRCm39) S522P probably damaging Het
Vmn2r94 A T 17: 18,473,574 (GRCm39) V484E possibly damaging Het
Zfp871 T A 17: 32,994,618 (GRCm39) T167S probably benign Het
Zmat3 C T 3: 32,395,680 (GRCm39) E276K probably damaging Het
Other mutations in Nol11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00646:Nol11 APN 11 107,064,286 (GRCm39) missense probably benign
IGL01656:Nol11 APN 11 107,079,998 (GRCm39) missense probably benign 0.00
IGL02179:Nol11 APN 11 107,080,082 (GRCm39) start codon destroyed probably null 1.00
IGL02538:Nol11 APN 11 107,064,199 (GRCm39) missense probably benign 0.02
IGL03395:Nol11 APN 11 107,066,548 (GRCm39) missense probably benign 0.06
R0526:Nol11 UTSW 11 107,075,597 (GRCm39) nonsense probably null
R1734:Nol11 UTSW 11 107,066,449 (GRCm39) missense possibly damaging 0.80
R2143:Nol11 UTSW 11 107,071,881 (GRCm39) missense probably benign 0.03
R2385:Nol11 UTSW 11 107,080,032 (GRCm39) missense probably benign 0.40
R3036:Nol11 UTSW 11 107,064,070 (GRCm39) missense possibly damaging 0.87
R3522:Nol11 UTSW 11 107,064,454 (GRCm39) missense possibly damaging 0.94
R3895:Nol11 UTSW 11 107,059,173 (GRCm39) missense probably damaging 1.00
R4404:Nol11 UTSW 11 107,064,551 (GRCm39) missense probably damaging 1.00
R4664:Nol11 UTSW 11 107,071,826 (GRCm39) missense possibly damaging 0.89
R4705:Nol11 UTSW 11 107,075,544 (GRCm39) intron probably benign
R5704:Nol11 UTSW 11 107,064,195 (GRCm39) missense probably benign 0.43
R5991:Nol11 UTSW 11 107,061,971 (GRCm39) missense probably benign 0.02
R6221:Nol11 UTSW 11 107,062,442 (GRCm39) missense possibly damaging 0.50
R6222:Nol11 UTSW 11 107,062,442 (GRCm39) missense possibly damaging 0.50
R6223:Nol11 UTSW 11 107,062,442 (GRCm39) missense possibly damaging 0.50
R6285:Nol11 UTSW 11 107,071,860 (GRCm39) missense probably benign 0.01
R6467:Nol11 UTSW 11 107,071,912 (GRCm39) missense possibly damaging 0.95
R7080:Nol11 UTSW 11 107,070,878 (GRCm39) missense probably damaging 1.00
R7679:Nol11 UTSW 11 107,064,142 (GRCm39) missense probably benign 0.00
R7767:Nol11 UTSW 11 107,069,908 (GRCm39) missense possibly damaging 0.67
R8831:Nol11 UTSW 11 107,067,662 (GRCm39) missense probably benign
R9063:Nol11 UTSW 11 107,069,857 (GRCm39) missense possibly damaging 0.62
R9063:Nol11 UTSW 11 107,064,240 (GRCm39) missense probably benign 0.04
R9329:Nol11 UTSW 11 107,071,765 (GRCm39) missense probably damaging 1.00
R9378:Nol11 UTSW 11 107,064,505 (GRCm39) missense probably benign 0.29
R9473:Nol11 UTSW 11 107,075,581 (GRCm39) missense probably null 0.81
R9515:Nol11 UTSW 11 107,064,278 (GRCm39) missense possibly damaging 0.76
R9771:Nol11 UTSW 11 107,069,914 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21