Incidental Mutation 'IGL02732:Nusap1'
ID305517
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 #IGL02732
Quality Score
Status
Chromosome2
Chromosomal Location119618298-119651244 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119635580 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 227 (E227G)
Ref Sequence ENSEMBL: ENSMUSP00000068713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028771] [ENSMUST00000068225]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028771
AA Change: E194G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: E194G

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 damaging
Transcript: ENSMUST00000068225
AA Change: E227G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: E227G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153036
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700007K13Rik T C 2: 28,465,180 N91S probably damaging Het
2410089E03Rik A G 15: 8,179,891 T271A probably benign Het
9230110F15Rik C T 9: 35,839,049 G109D probably damaging Het
Apoo-ps C A 13: 107,414,623 noncoding transcript Het
Ash1l T A 3: 88,966,228 V106E probably damaging Het
Baz2a A G 10: 128,125,175 T1618A possibly damaging Het
Brca1 A G 11: 101,492,219 S1732P probably benign Het
Cdh1 T A 8: 106,666,323 I813N probably damaging Het
Cdk5rap2 G A 4: 70,266,665 R1183* probably null Het
Cep170 C T 1: 176,736,874 E1479K probably damaging Het
Cep68 A T 11: 20,236,109 probably benign Het
Cog7 C T 7: 121,923,367 V750I probably benign Het
Cyb5d1 A C 11: 69,393,809 probably null Het
Dlgap4 A G 2: 156,749,323 K120E probably benign Het
Dmtf1 T C 5: 9,136,098 I75V possibly damaging Het
Fam103a1 T C 7: 81,767,725 probably null Het
Fam208b A G 13: 3,573,626 V2108A probably benign Het
Fnip2 T C 3: 79,465,697 T995A probably damaging Het
Hecw2 G A 1: 53,926,688 probably benign Het
Il17rd T A 14: 27,087,419 F111I probably damaging Het
Itgb8 A C 12: 119,163,353 M722R probably benign Het
Maip1 A G 1: 57,409,955 D165G probably damaging Het
Mcm6 A T 1: 128,359,490 C26S probably benign Het
Mdp1 T C 14: 55,659,221 I128V possibly damaging Het
Myof A T 19: 37,977,716 F385L possibly damaging Het
Nebl C T 2: 17,452,484 probably benign Het
Olfr142 A G 2: 90,252,308 S227P probably damaging Het
Olfr594 A C 7: 103,220,240 N174T probably benign Het
Olfr631 T G 7: 103,929,129 M102R probably damaging Het
Pamr1 A T 2: 102,642,141 H595L probably benign Het
Pdgfc G A 3: 81,037,557 probably benign Het
Ptpn22 A T 3: 103,886,033 E500V probably damaging Het
Ptprg G T 14: 12,225,617 probably null Het
R3hdm2 T C 10: 127,484,060 F513L probably benign Het
Rhobtb3 C A 13: 75,910,937 L247F probably damaging Het
Scfd1 T C 12: 51,422,973 S434P probably benign Het
Serpinb3d T A 1: 107,082,796 probably null Het
Sin3b T C 8: 72,733,453 F223L possibly damaging Het
Slc9c1 T C 16: 45,550,185 V263A possibly damaging Het
Sntb1 A G 15: 55,792,200 S207P possibly damaging Het
Sqor A T 2: 122,799,762 T1S possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Ssh2 A G 11: 77,437,776 probably null Het
Tmod2 A G 9: 75,586,172 V167A possibly damaging Het
Trak2 G A 1: 58,910,063 T526M probably benign Het
Trdn G A 10: 33,468,199 probably null Het
Trim5 T A 7: 104,278,465 E156V probably benign Het
Twf1 A G 15: 94,581,009 S273P probably damaging Het
Xylt1 T C 7: 117,591,937 V320A possibly damaging Het
Zfp518a G A 19: 40,914,617 G997R probably damaging Het
Other mutations in Nusap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02580:Nusap1 APN 2 119648890 splice site probably benign
IGL02582:Nusap1 APN 2 119648989 makesense probably null
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