Incidental Mutation 'R3895:Nusap1'
ID 310482
Institutional Source Beutler Lab
Gene Symbol Nusap1
Ensembl Gene ENSMUSG00000027306
Gene Name nucleolar and spindle associated protein 1
Synonyms 2610201A12Rik, NuSAP
MMRRC Submission 040806-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3895 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 119449205-119480646 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 119458172 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 103 (Q103K)
Ref Sequence ENSEMBL: ENSMUSP00000068713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028771] [ENSMUST00000068225]
AlphaFold Q9ERH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000028771
AA Change: Q103K

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: Q103K

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 possibly damaging
Transcript: ENSMUST00000068225
AA Change: Q103K

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: Q103K

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: ENSMUST00000125491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153036
Meta Mutation Damage Score 0.0744 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 96% (45/47)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl T C 2: 127,814,445 (GRCm39) probably benign Het
C6 T C 15: 4,837,952 (GRCm39) V854A probably benign Het
Ccnd1 T C 7: 144,491,631 (GRCm39) E136G probably damaging Het
CK137956 A T 4: 127,840,441 (GRCm39) F422I probably benign Het
Csta1 T C 16: 35,951,402 (GRCm39) T7A probably benign Het
Dock8 A G 19: 25,028,865 (GRCm39) E23G probably benign Het
Fbxo8 A T 8: 57,044,556 (GRCm39) R286S probably damaging Het
Gm12258 T G 11: 58,749,375 (GRCm39) Y183* probably null Het
Gvin-ps6 T A 7: 106,022,621 (GRCm39) H127L probably damaging Het
Hectd3 A G 4: 116,853,286 (GRCm39) D171G probably damaging Het
Hoxd11 C T 2: 74,513,136 (GRCm39) R134W probably damaging Het
Ighg2c T C 12: 113,251,278 (GRCm39) T246A unknown Het
Ints6 T C 14: 62,934,060 (GRCm39) I816V probably damaging Het
Lrp4 G A 2: 91,304,294 (GRCm39) G158S probably damaging Het
Mast1 G A 8: 85,662,352 (GRCm39) P52L probably damaging Het
Med13l A G 5: 118,899,388 (GRCm39) D2148G probably null Het
Med24 A G 11: 98,597,214 (GRCm39) S889P probably benign Het
Mgam T A 6: 40,736,054 (GRCm39) M851K probably damaging Het
Mkln1 T A 6: 31,484,602 (GRCm39) L710H probably damaging Het
Morf4l1 A T 9: 89,976,501 (GRCm39) F276I possibly damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Myt1 T A 2: 181,461,863 (GRCm39) S574R probably damaging Het
Nol11 C A 11: 107,059,173 (GRCm39) V644F probably damaging Het
Ovgp1 A G 3: 105,893,912 (GRCm39) probably benign Het
Pcdh9 C T 14: 94,124,974 (GRCm39) V399M probably damaging Het
Plekhh1 T C 12: 79,102,006 (GRCm39) S359P probably benign Het
Prg4 G C 1: 150,330,510 (GRCm39) probably benign Het
Ptpn14 C T 1: 189,582,743 (GRCm39) A530V probably benign Het
Rho A G 6: 115,910,863 (GRCm39) Y136C probably damaging Het
Rps3 C T 7: 99,129,103 (GRCm39) R173H probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sall2 T C 14: 52,551,504 (GRCm39) N564D probably damaging Het
Sart3 G A 5: 113,890,488 (GRCm39) R452* probably null Het
Sbf2 T C 7: 110,046,298 (GRCm39) I300V probably damaging Het
Sgo2b A T 8: 64,381,767 (GRCm39) V355E possibly damaging Het
Slc22a5 T C 11: 53,756,651 (GRCm39) K553R possibly damaging Het
Syne1 A G 10: 5,355,456 (GRCm39) V375A probably damaging Het
Trafd1 T C 5: 121,516,804 (GRCm39) E28G probably benign Het
Tsc2 T C 17: 24,818,786 (GRCm39) K1292R probably damaging Het
Twnk A G 19: 44,995,890 (GRCm39) T108A probably damaging Het
Unc13c A T 9: 73,840,805 (GRCm39) H15Q probably benign Het
Vps16 T C 2: 130,280,596 (GRCm39) S208P possibly damaging Het
Other mutations in Nusap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02580:Nusap1 APN 2 119,479,371 (GRCm39) splice site probably benign
IGL02582:Nusap1 APN 2 119,479,470 (GRCm39) makesense probably null
IGL02732:Nusap1 APN 2 119,466,061 (GRCm39) missense probably damaging 0.96
IGL02794:Nusap1 APN 2 119,460,867 (GRCm39) missense possibly damaging 0.80
R0635:Nusap1 UTSW 2 119,458,148 (GRCm39) missense probably damaging 0.98
R2567:Nusap1 UTSW 2 119,474,311 (GRCm39) missense possibly damaging 0.70
R3162:Nusap1 UTSW 2 119,460,885 (GRCm39) missense possibly damaging 0.86
R3162:Nusap1 UTSW 2 119,460,885 (GRCm39) missense possibly damaging 0.86
R4296:Nusap1 UTSW 2 119,470,129 (GRCm39) missense probably damaging 1.00
R5111:Nusap1 UTSW 2 119,460,837 (GRCm39) nonsense probably null
R5417:Nusap1 UTSW 2 119,477,624 (GRCm39) missense probably damaging 0.98
R5754:Nusap1 UTSW 2 119,477,580 (GRCm39) missense probably damaging 1.00
R5818:Nusap1 UTSW 2 119,465,994 (GRCm39) missense possibly damaging 0.85
R6176:Nusap1 UTSW 2 119,460,902 (GRCm39) missense probably benign 0.01
R7947:Nusap1 UTSW 2 119,477,616 (GRCm39) missense possibly damaging 0.95
R9010:Nusap1 UTSW 2 119,479,456 (GRCm39) missense possibly damaging 0.91
R9312:Nusap1 UTSW 2 119,458,119 (GRCm39) small deletion probably benign
R9556:Nusap1 UTSW 2 119,479,444 (GRCm39) missense possibly damaging 0.95
RF003:Nusap1 UTSW 2 119,458,084 (GRCm39) small insertion probably benign
RF007:Nusap1 UTSW 2 119,458,062 (GRCm39) small insertion probably benign
RF010:Nusap1 UTSW 2 119,458,065 (GRCm39) small insertion probably benign
RF016:Nusap1 UTSW 2 119,458,082 (GRCm39) small insertion probably benign
RF018:Nusap1 UTSW 2 119,458,059 (GRCm39) small insertion probably benign
RF026:Nusap1 UTSW 2 119,458,085 (GRCm39) small insertion probably benign
RF026:Nusap1 UTSW 2 119,458,071 (GRCm39) small insertion probably benign
RF028:Nusap1 UTSW 2 119,458,072 (GRCm39) small insertion probably benign
RF028:Nusap1 UTSW 2 119,458,059 (GRCm39) small insertion probably benign
RF029:Nusap1 UTSW 2 119,458,075 (GRCm39) small insertion probably benign
RF029:Nusap1 UTSW 2 119,458,086 (GRCm39) small insertion probably benign
RF032:Nusap1 UTSW 2 119,458,068 (GRCm39) small insertion probably benign
RF033:Nusap1 UTSW 2 119,458,081 (GRCm39) small insertion probably benign
RF035:Nusap1 UTSW 2 119,458,060 (GRCm39) small insertion probably benign
RF036:Nusap1 UTSW 2 119,458,075 (GRCm39) small insertion probably benign
RF036:Nusap1 UTSW 2 119,458,068 (GRCm39) small insertion probably benign
RF037:Nusap1 UTSW 2 119,458,070 (GRCm39) small insertion probably benign
RF040:Nusap1 UTSW 2 119,458,068 (GRCm39) small insertion probably benign
RF041:Nusap1 UTSW 2 119,458,088 (GRCm39) nonsense probably null
RF041:Nusap1 UTSW 2 119,458,074 (GRCm39) small insertion probably benign
RF041:Nusap1 UTSW 2 119,458,060 (GRCm39) small insertion probably benign
RF042:Nusap1 UTSW 2 119,458,088 (GRCm39) nonsense probably null
RF043:Nusap1 UTSW 2 119,458,073 (GRCm39) small insertion probably benign
RF045:Nusap1 UTSW 2 119,458,091 (GRCm39) small insertion probably benign
RF046:Nusap1 UTSW 2 119,458,076 (GRCm39) nonsense probably null
RF048:Nusap1 UTSW 2 119,458,080 (GRCm39) small insertion probably benign
RF049:Nusap1 UTSW 2 119,458,064 (GRCm39) small insertion probably benign
RF052:Nusap1 UTSW 2 119,458,065 (GRCm39) small insertion probably benign
RF056:Nusap1 UTSW 2 119,458,072 (GRCm39) small insertion probably benign
RF056:Nusap1 UTSW 2 119,458,067 (GRCm39) small insertion probably benign
RF056:Nusap1 UTSW 2 119,458,062 (GRCm39) small insertion probably benign
RF062:Nusap1 UTSW 2 119,458,091 (GRCm39) small insertion probably benign
RF062:Nusap1 UTSW 2 119,458,082 (GRCm39) small insertion probably benign
Predicted Primers PCR Primer
(F):5'- GTGCAGGATCTGGCACATACTG -3'
(R):5'- TCATTTCTTCCCGAGTGCTAGG -3'

Sequencing Primer
(F):5'- AGGATCTGGCACATACTGTCTCC -3'
(R):5'- TCTTCCCGAGTGCTAGGATCAG -3'
Posted On 2015-04-17