Incidental Mutation 'IGL03395:Nol11'
ID 421213
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 # IGL03395
Quality Score
Status
Chromosome 11
Chromosomal Location 107057489-107080207 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107066548 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 414 (V414A)
Ref Sequence ENSEMBL: ENSMUSP00000102368 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000018577] [ENSMUST00000106757]
AlphaFold Q8BJW5
Predicted Effect probably benign
Transcript: ENSMUST00000018577
AA Change: V414A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000018577
Gene: ENSMUSG00000018433
AA Change: V414A

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: V414A

PolyPhen 2 Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000102368
Gene: ENSMUSG00000018433
AA Change: V414A

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: ENSMUST00000136917
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam11 A G 11: 102,663,746 (GRCm39) D308G probably damaging Het
Adgrg3 A T 8: 95,761,701 (GRCm39) I155F probably damaging Het
Ado T C 10: 67,384,368 (GRCm39) Y79C probably benign Het
Aox1 T C 1: 58,107,884 (GRCm39) probably benign Het
Bicd2 T A 13: 49,528,734 (GRCm39) D165E probably damaging Het
Ccdc124 A C 8: 71,321,251 (GRCm39) M163R probably benign Het
Ceacam5 T C 7: 17,479,304 (GRCm39) probably benign Het
Cenpq A G 17: 41,234,449 (GRCm39) L247P probably damaging Het
Crat A G 2: 30,294,978 (GRCm39) V479A probably benign Het
Egfr T C 11: 16,860,261 (GRCm39) probably benign Het
Elapor2 A T 5: 9,472,359 (GRCm39) Q352L probably damaging Het
Emc9 C T 14: 55,822,197 (GRCm39) A72T probably benign Het
Fbxo5 G A 10: 5,751,935 (GRCm39) S226F probably benign Het
Gm42688 A C 6: 83,085,352 (GRCm39) E737D possibly damaging Het
Got1l1 G T 8: 27,690,885 (GRCm39) H54Q probably benign Het
Grid2 G A 6: 63,886,053 (GRCm39) V150I possibly damaging Het
Klc4 C T 17: 46,943,789 (GRCm39) V506M probably damaging Het
Lrrc8c A G 5: 105,754,495 (GRCm39) N90S probably benign Het
Lrrk2 T A 15: 91,681,617 (GRCm39) probably null Het
Mbd6 G A 10: 127,119,286 (GRCm39) R950C probably damaging Het
Or7e178 A T 9: 20,225,847 (GRCm39) M123K probably damaging Het
Pcnt T C 10: 76,272,325 (GRCm39) E177G possibly damaging Het
Pcnx2 G T 8: 126,614,262 (GRCm39) D396E probably benign Het
Pcyt2 A T 11: 120,503,876 (GRCm39) probably null Het
Pds5a T C 5: 65,809,792 (GRCm39) D390G possibly damaging Het
Pik3r2 T C 8: 71,224,999 (GRCm39) T155A probably benign Het
Rab31 T A 17: 66,003,362 (GRCm39) H95L probably benign Het
Rfx5 C T 3: 94,865,113 (GRCm39) R259* probably null Het
Slc6a17 T C 3: 107,384,622 (GRCm39) D285G probably damaging Het
Spats2l A T 1: 57,977,175 (GRCm39) I318F probably damaging Het
Spef1l G T 7: 139,556,589 (GRCm39) probably benign Het
Tcf12 A G 9: 71,783,304 (GRCm39) S361P 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
IGL01687:Nol11 APN 11 107,077,695 (GRCm39) missense probably damaging 0.97
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
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 2016-08-02