Incidental Mutation 'IGL02582:Nusap1'
ID299384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Nusap1
Ensembl Gene ENSMUSG00000027306
Gene Namenucleolar and spindle associated protein 1
Synonyms2610201A12Rik, NuSAP
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02582
Quality Score
Status
Chromosome2
Chromosomal Location119618298-119651244 bp(+) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to G at 119648989 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Tryptophan at position 428 (*428W)
Ref Sequence ENSEMBL: ENSMUSP00000068713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028771] [ENSMUST00000068225]
Predicted Effect probably null
Transcript: ENSMUST00000028771
AA Change: *395W
SMART Domains Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: *395W

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 119 129 N/A INTRINSIC
coiled coil region 360 392 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000068225
AA Change: *428W
SMART Domains Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: *428W

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
low complexity region 83 95 N/A INTRINSIC
low complexity region 119 129 N/A INTRINSIC
Pfam:NUSAP 167 261 6e-27 PFAM
Pfam:NUSAP 256 421 2.3e-72 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] NUSAP1 is a nucleolar-spindle-associated protein that plays a role in spindle microtubule organization (Raemaekers et al., 2003 [PubMed 12963707]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Early embryos homozygous for a knock-out allele are small and exhibit disorganized embryonic tissue, abnormal chromatin-induced spindle assembly, abnormal inner cell mass apoptosis, and complete embryonic lethality at implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 T A 9: 53,594,745 I92F probably benign Het
Actr3b A G 5: 25,832,413 I208V probably benign Het
Car12 T C 9: 66,713,877 V10A probably benign Het
Ccdc171 C A 4: 83,743,018 R1122S probably damaging Het
Cep97 A G 16: 55,922,176 V136A probably damaging Het
Cilp2 G T 8: 69,881,286 Q1021K probably damaging Het
Col24a1 C A 3: 145,314,486 T206N probably damaging Het
Crebbp A T 16: 4,084,277 I2328K possibly damaging Het
Ctns A G 11: 73,196,652 F16S probably benign Het
Dbf4 T C 5: 8,403,172 K276E probably benign Het
Dnase2b T A 3: 146,589,085 Q118L probably benign Het
Elf1 T C 14: 79,536,379 L10P probably damaging Het
Exosc5 T C 7: 25,665,563 probably null Het
Fam163b C T 2: 27,113,558 C28Y probably damaging Het
Fam180a G T 6: 35,313,712 A112E possibly damaging Het
Fam3b A T 16: 97,471,191 Y89* probably null Het
Gcg C T 2: 62,478,578 W77* probably null Het
Gm17472 G A 6: 42,980,898 V34I possibly damaging Het
Klhl23 T A 2: 69,824,238 C151S probably damaging Het
Mdh1b T A 1: 63,719,597 I279F probably benign Het
Mfsd11 T A 11: 116,873,875 I375N probably damaging Het
Mroh2b T A 15: 4,908,515 I206N probably damaging Het
Myo1b T C 1: 51,781,974 E456G possibly damaging Het
Nat8 G A 6: 85,830,801 Q117* probably null Het
Nlrp4g A C 9: 124,349,764 noncoding transcript Het
Nmt1 G T 11: 103,064,799 G468C possibly damaging Het
Nobox G T 6: 43,305,039 Q367K possibly damaging Het
Olfr1261 G A 2: 89,994,312 M306I probably benign Het
Olfr533 T C 7: 140,466,647 F149L probably benign Het
Pbp2 T C 6: 135,310,149 I67V probably benign Het
Pcdhb8 T G 18: 37,355,374 M35R possibly damaging Het
Pkp1 T C 1: 135,889,926 E157G probably damaging Het
Pomgnt1 C T 4: 116,158,550 L560F probably damaging Het
Prkcz T C 4: 155,271,256 T227A probably damaging Het
Ptprd T A 4: 75,947,124 R1446S probably damaging Het
Ptprq T C 10: 107,643,999 T1137A probably benign Het
Sec22c T C 9: 121,685,564 I153V probably benign Het
Slc30a5 C T 13: 100,812,647 probably null Het
Smcr8 T C 11: 60,778,895 S290P probably benign Het
Stambpl1 T G 19: 34,235,212 L261V probably benign Het
Stk38l T C 6: 146,766,823 probably null Het
Themis T C 10: 28,761,547 F216L probably benign Het
Trmt1l T C 1: 151,433,785 probably benign Het
Usp17lb C A 7: 104,840,730 C330F probably damaging Het
Vmn2r120 A T 17: 57,524,724 L355H probably damaging Het
Zc3h7b T A 15: 81,769,140 C82S probably benign Het
Other mutations in Nusap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02580:Nusap1 APN 2 119648890 splice site probably benign
IGL02732:Nusap1 APN 2 119635580 missense probably damaging 0.96
IGL02794:Nusap1 APN 2 119630386 missense possibly damaging 0.80
R0635:Nusap1 UTSW 2 119627667 missense probably damaging 0.98
R2567:Nusap1 UTSW 2 119643830 missense possibly damaging 0.70
R3162:Nusap1 UTSW 2 119630404 missense possibly damaging 0.86
R3162:Nusap1 UTSW 2 119630404 missense possibly damaging 0.86
R3895:Nusap1 UTSW 2 119627691 missense possibly damaging 0.94
R4296:Nusap1 UTSW 2 119639648 missense probably damaging 1.00
R5111:Nusap1 UTSW 2 119630356 nonsense probably null
R5417:Nusap1 UTSW 2 119647143 missense probably damaging 0.98
R5754:Nusap1 UTSW 2 119647099 missense probably damaging 1.00
R5818:Nusap1 UTSW 2 119635513 missense possibly damaging 0.85
R6176:Nusap1 UTSW 2 119630421 missense probably benign 0.01
R7947:Nusap1 UTSW 2 119647135 missense possibly damaging 0.95
RF003:Nusap1 UTSW 2 119627603 small insertion probably benign
RF007:Nusap1 UTSW 2 119627581 small insertion probably benign
RF010:Nusap1 UTSW 2 119627584 small insertion probably benign
RF016:Nusap1 UTSW 2 119627601 small insertion probably benign
RF018:Nusap1 UTSW 2 119627578 small insertion probably benign
RF026:Nusap1 UTSW 2 119627590 small insertion probably benign
RF026:Nusap1 UTSW 2 119627604 small insertion probably benign
RF028:Nusap1 UTSW 2 119627578 small insertion probably benign
RF028:Nusap1 UTSW 2 119627591 small insertion probably benign
RF029:Nusap1 UTSW 2 119627594 small insertion probably benign
RF029:Nusap1 UTSW 2 119627605 small insertion probably benign
RF032:Nusap1 UTSW 2 119627587 small insertion probably benign
RF033:Nusap1 UTSW 2 119627600 small insertion probably benign
RF035:Nusap1 UTSW 2 119627579 small insertion probably benign
RF036:Nusap1 UTSW 2 119627587 small insertion probably benign
RF036:Nusap1 UTSW 2 119627594 small insertion probably benign
RF037:Nusap1 UTSW 2 119627589 small insertion probably benign
RF040:Nusap1 UTSW 2 119627587 small insertion probably benign
RF041:Nusap1 UTSW 2 119627579 small insertion probably benign
RF041:Nusap1 UTSW 2 119627593 small insertion probably benign
RF041:Nusap1 UTSW 2 119627607 nonsense probably null
RF042:Nusap1 UTSW 2 119627607 nonsense probably null
RF043:Nusap1 UTSW 2 119627592 small insertion probably benign
RF045:Nusap1 UTSW 2 119627610 small insertion probably benign
RF046:Nusap1 UTSW 2 119627595 nonsense probably null
RF048:Nusap1 UTSW 2 119627599 small insertion probably benign
RF049:Nusap1 UTSW 2 119627583 small insertion probably benign
RF052:Nusap1 UTSW 2 119627584 small insertion probably benign
RF056:Nusap1 UTSW 2 119627581 small insertion probably benign
RF056:Nusap1 UTSW 2 119627586 small insertion probably benign
RF056:Nusap1 UTSW 2 119627591 small insertion probably benign
RF062:Nusap1 UTSW 2 119627601 small insertion probably benign
RF062:Nusap1 UTSW 2 119627610 small insertion probably benign
Posted On2015-04-16