Incidental Mutation 'R7947:Nusap1'
ID649380
Institutional Source Beutler Lab
Gene Symbol Nusap1
Ensembl Gene ENSMUSG00000027306
Gene Namenucleolar and spindle associated protein 1
Synonyms2610201A12Rik, NuSAP
MMRRC Submission
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R7947 (G1)
Quality Score225.009
Status Validated
Chromosome2
Chromosomal Location119618298-119651244 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 119647135 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 375 (N375S)
Ref Sequence ENSEMBL: ENSMUSP00000068713 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028771] [ENSMUST00000068225]
Predicted Effect probably benign
Transcript: ENSMUST00000028771
AA Change: N342S

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: N342S

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: N375S

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: N375S

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
Meta Mutation Damage Score 0.0847 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 98% (60/61)
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: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310034C09Rik A G 16: 88,759,050 T51A probably benign Het
Abcc8 A G 7: 46,105,462 probably null Het
Accs A T 2: 93,844,257 M123K probably damaging Het
Ace G A 11: 105,973,054 G443S possibly damaging Het
Adprhl1 C T 8: 13,248,682 V83I probably damaging Het
Arhgap25 T C 6: 87,463,087 D526G probably benign Het
Arhgef18 T C 8: 3,432,775 L160P probably damaging Het
Arnt T G 3: 95,474,526 probably null Het
Arntl T C 7: 113,287,146 Y137H probably damaging Het
Art3 A G 5: 92,392,500 N34S possibly damaging Het
Avl9 A T 6: 56,723,541 E53D possibly damaging Het
AW209491 A T 13: 14,636,862 E100V probably benign Het
Axin2 T C 11: 108,923,703 I139T probably damaging Het
Birc7 G T 2: 180,933,310 V280L probably damaging Het
C1ra A G 6: 124,517,379 N262D probably benign Het
Cacna1g A G 11: 94,457,175 F696L probably benign Het
Casp14 T A 10: 78,714,245 probably null Het
Crlf1 T C 8: 70,499,212 Y176H probably damaging Het
Dnajb4 A T 3: 152,186,831 S122T probably benign Het
Dthd1 G A 5: 62,814,310 D159N possibly damaging Het
Erich6 A T 3: 58,621,278 I517N possibly damaging Het
Fam118b T A 9: 35,217,943 H343L probably benign Het
Fam35a C T 14: 34,268,479 V157I probably benign Het
Fam96a A G 9: 66,138,402 I151V probably benign Het
Fat2 T A 11: 55,287,734 D1500V probably damaging Het
Fcgbp T C 7: 28,104,170 probably null Het
Fgfrl1 A G 5: 108,705,276 D255G probably damaging Het
Gm9611 G A 14: 42,296,130 Q82* probably null Het
Ifit3 G T 19: 34,587,959 E302* probably null Het
Igkv3-9 G A 6: 70,588,753 C112Y probably damaging Het
Ints4 A G 7: 97,499,585 T233A probably benign Het
Khnyn A T 14: 55,887,602 S438C probably damaging Het
Kifc1 T C 17: 33,883,875 R192G probably benign Het
Kntc1 T C 5: 123,781,888 S98P unknown Het
Krt2 A T 15: 101,816,334 D280E probably damaging Het
Krt9 TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC 11: 100,189,077 probably benign Het
Macf1 T C 4: 123,401,407 I5344V probably damaging Het
Mcf2l A T 8: 13,003,529 probably null Het
Mms22l A C 4: 24,505,373 H211P probably damaging Het
Nipsnap1 A G 11: 4,889,145 R163G possibly damaging Het
Olfr146 A G 9: 39,019,451 L30P probably damaging Het
Olfr574 A G 7: 102,949,071 Y202C probably damaging Het
Olfr603 A T 7: 103,383,528 V158D possibly damaging Het
Phf14 G A 6: 11,933,307 G56D unknown Het
Phykpl G A 11: 51,586,581 V67M probably damaging Het
Pigk A G 3: 152,747,767 D374G probably benign Het
Pirb A G 7: 3,719,858 V45A probably damaging Het
Prm3 CTCTTCTTCTTCTTC CTCTTCTTCTTC 16: 10,790,701 probably benign Het
Rb1cc1 T C 1: 6,248,562 V735A probably damaging Het
Rcor2 A G 19: 7,273,860 T333A possibly damaging Het
Ret A G 6: 118,174,344 V593A probably benign Het
Scgb1b10 A T 7: 32,101,145 D53V probably damaging Het
Sec61a2 G A 2: 5,876,983 A212V probably damaging Het
Sgpl1 A T 10: 61,106,342 F245I probably damaging Het
Sh2d4b A C 14: 40,820,766 V351G probably damaging Het
Slc22a1 T A 17: 12,652,423 M484L probably benign Het
Slit1 C G 19: 41,610,808 G1066R probably damaging Het
Slit1 A T 19: 41,610,809 D1065E probably benign Het
Spg11 G A 2: 122,092,322 A882V probably damaging Het
Stab2 A C 10: 86,846,033 F2501L probably benign Het
Stim2 A T 5: 54,118,329 K607N probably damaging Het
Syde1 C T 10: 78,590,082 V84M probably damaging Het
Tepsin A T 11: 120,094,235 N202K probably benign Het
Tmem207 T A 16: 26,516,745 I81F possibly damaging Het
Tnc C A 4: 64,017,343 G452V probably damaging Het
Tshz1 G T 18: 84,015,657 Q209K probably damaging Het
Ttn A T 2: 76,943,352 N2308K unknown Het
Zfp266 A G 9: 20,499,252 I543T probably benign Het
Zfp777 G T 6: 48,024,711 P815Q probably damaging Het
Zhx3 A G 2: 160,781,095 I384T 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
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
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
Predicted Primers PCR Primer
(F):5'- AGACTCACTGCAGGATATACATG -3'
(R):5'- CCATCTTGTGACACAGCAGAAG -3'

Sequencing Primer
(F):5'- GAGCTGTGAATGATAGGTTG -3'
(R):5'- CACCTGGGGCTTCTAGAATTGTAAG -3'
Posted On2020-09-15