Incidental Mutation 'IGL01983:Nol9'
ID 183543
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nol9
Ensembl Gene ENSMUSG00000028948
Gene Name nucleolar protein 9
Synonyms 6030462G04Rik, 4632412I24Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # IGL01983
Quality Score
Status
Chromosome 4
Chromosomal Location 152123778-152145951 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 152130494 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099486 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084116] [ENSMUST00000103197]
AlphaFold Q3TZX8
Predicted Effect probably null
Transcript: ENSMUST00000084116
SMART Domains Protein: ENSMUSP00000081133
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:CLP1_P 322 480 7.5e-37 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000103197
SMART Domains Protein: ENSMUSP00000099486
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 5.9e-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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147797
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,880,783 (GRCm39) Q328* probably null Het
Alpk2 T C 18: 65,483,753 (GRCm39) Y85C probably damaging Het
Arhgap31 C T 16: 38,422,127 (GRCm39) R1313Q probably damaging Het
Chrnb1 G T 11: 69,686,555 (GRCm39) R22S probably benign Het
Clec7a G A 6: 129,442,539 (GRCm39) probably benign Het
Cyrib A G 15: 63,809,236 (GRCm39) S251P probably benign Het
Epb41l5 A G 1: 119,506,814 (GRCm39) probably benign Het
Hdac1-ps T A 17: 78,800,282 (GRCm39) D424E probably benign Het
Hydin A C 8: 111,241,527 (GRCm39) I2106L probably benign Het
Igkv3-5 T A 6: 70,640,670 (GRCm39) D50E probably benign Het
Irf2bp1 G T 7: 18,739,220 (GRCm39) A287S possibly damaging Het
Ldb3 G A 14: 34,299,156 (GRCm39) S156L probably benign Het
Lnpep A T 17: 17,751,440 (GRCm39) W942R probably damaging Het
Mst1r T A 9: 107,794,475 (GRCm39) V1218D probably damaging Het
Naxd G T 8: 11,560,218 (GRCm39) probably benign Het
Nus1 T A 10: 52,312,753 (GRCm39) L295Q probably damaging Het
Nxph2 A G 2: 23,289,946 (GRCm39) I99M probably benign Het
Plekhg1 T A 10: 3,895,904 (GRCm39) I432N probably damaging Het
Pon3 A G 6: 5,240,974 (GRCm39) L69S probably damaging Het
Pram1 C A 17: 33,859,835 (GRCm39) A134D probably damaging Het
Serpinb6c T A 13: 34,081,317 (GRCm39) probably benign Het
Stk10 A T 11: 32,539,460 (GRCm39) E280V probably benign Het
Tbc1d10c T A 19: 4,240,708 (GRCm39) Q34L possibly damaging Het
Tnr G A 1: 159,691,349 (GRCm39) V500I probably benign Het
Trim66 G A 7: 109,057,458 (GRCm39) R992* probably null Het
Unc45b A G 11: 82,827,687 (GRCm39) D728G probably benign Het
Usp13 A G 3: 32,971,608 (GRCm39) D696G probably damaging Het
Utrn C T 10: 12,545,525 (GRCm39) V1707I probably benign Het
Vmn2r96 A T 17: 18,817,527 (GRCm39) H368L probably damaging Het
Xrn1 T C 9: 95,855,421 (GRCm39) probably null Het
Zfhx3 C A 8: 109,673,866 (GRCm39) L1639M probably damaging Het
Znfx1 A T 2: 166,898,270 (GRCm39) V218E probably damaging Het
Other mutations in Nol9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00770:Nol9 APN 4 152,136,472 (GRCm39) missense probably benign 0.38
IGL00774:Nol9 APN 4 152,136,472 (GRCm39) missense probably benign 0.38
IGL00885:Nol9 APN 4 152,126,057 (GRCm39) missense probably damaging 1.00
IGL01125:Nol9 APN 4 152,131,066 (GRCm39) missense probably damaging 1.00
IGL01368:Nol9 APN 4 152,142,848 (GRCm39) missense probably benign
IGL01759:Nol9 APN 4 152,130,500 (GRCm39) intron probably benign
IGL02185:Nol9 APN 4 152,142,368 (GRCm39) missense probably damaging 1.00
IGL02869:Nol9 APN 4 152,131,030 (GRCm39) missense probably damaging 1.00
IGL02967:Nol9 APN 4 152,125,559 (GRCm39) missense possibly damaging 0.95
R0401:Nol9 UTSW 4 152,137,062 (GRCm39) missense probably benign 0.00
R3721:Nol9 UTSW 4 152,124,163 (GRCm39) missense probably benign 0.07
R4429:Nol9 UTSW 4 152,125,631 (GRCm39) missense probably damaging 1.00
R4460:Nol9 UTSW 4 152,142,293 (GRCm39) missense probably damaging 1.00
R4837:Nol9 UTSW 4 152,136,552 (GRCm39) intron probably benign
R5137:Nol9 UTSW 4 152,130,428 (GRCm39) missense probably damaging 1.00
R5698:Nol9 UTSW 4 152,135,031 (GRCm39) missense probably damaging 0.98
R6190:Nol9 UTSW 4 152,125,691 (GRCm39) missense possibly damaging 0.85
R6317:Nol9 UTSW 4 152,125,514 (GRCm39) missense probably damaging 1.00
R6372:Nol9 UTSW 4 152,130,452 (GRCm39) missense probably damaging 1.00
R6525:Nol9 UTSW 4 152,123,906 (GRCm39) missense probably damaging 0.98
R6551:Nol9 UTSW 4 152,136,325 (GRCm39) missense possibly damaging 0.80
R6580:Nol9 UTSW 4 152,136,218 (GRCm39) missense probably benign 0.00
R7538:Nol9 UTSW 4 152,124,115 (GRCm39) missense probably benign 0.05
R8143:Nol9 UTSW 4 152,125,559 (GRCm39) missense possibly damaging 0.95
R9018:Nol9 UTSW 4 152,123,918 (GRCm39) missense probably damaging 0.99
R9428:Nol9 UTSW 4 152,124,109 (GRCm39) missense probably benign 0.00
R9578:Nol9 UTSW 4 152,125,706 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07