Mutagenetix > Incidental Mutation

Incidental Mutation 'RF062:Nusap1'

605432

Institutional Source

Beutler Lab

Gene Symbol

Nusap1

Ensembl Gene

ENSMUSG00000027306

Gene Name

nucleolar and spindle associated protein 1

Synonyms

2610201A12Rik, NuSAP

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

RF062 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

119618298-119651244 bp(+) (GRCm38)

Type of Mutation

small insertion (10 aa in frame mutation)

DNA Base Change (assembly)

A to ATACACGTTAGCAGTGAGGAGCAAGCTGAGG at 119627610 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068713 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028771] [ENSMUST00000068225]

AlphaFold

Q9ERH4

Predicted Effect

probably benign
Transcript: ENSMUST00000028771

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306

Domain	Start	End	E-Value	Type
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 benign
Transcript: ENSMUST00000068225

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306

Domain	Start	End	E-Value	Type
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

1x: 99.8%
3x: 99.6%
10x: 99.3%
20x: 98.6%

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: 18 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Anapc2	GTGGCGGCGGCGGC	G	2: 25,272,537	probably null	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,918	probably benign	Het
Cckbr	CAG	C	7: 105,434,687	probably null	Het
Defb22	TGGCCT	TGGCCTCTGCGGCAGAGCCGGCCT	2: 152,485,825	probably benign	Het
Dmkn	GGTGGAAGTGGTGGAAGTGGTGGAAGT	GGTGGAAGTGGTGGAAGTGGTGGAAGTCGTGGAAGTGGTGGAAGTGGTGGAAGT	7: 30,767,175	probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,874,755	probably benign	Het
Efhd2	CC	CCGCCGAC	4: 141,874,774	probably benign	Het
Fsip2	TTTT	TTTTGTTT	2: 82,984,363	probably benign	Het
Gm11060	CTGTGTG	CTG	2: 105,092,040	probably null	Het
Gm5591	GC	G	7: 38,522,335	probably null	Het
Krt10	CGCC	CGCCGCC	11: 99,386,199	probably benign	Het
Krt10	ACCACCGCC	ACCACCGCCACCGCC	11: 99,389,264	probably benign	Het
Nefh	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGGGACTTGGCCTCACCGGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,028	probably benign	Het
Rfx4	CTCTCTCTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCTCTCTCT	10: 84,858,481	probably benign	Het
St5	GGGCAGCCCTCACTGA	G	7: 109,556,946	probably benign	Het
Tfeb	GCA	GCATCA	17: 47,786,100	probably benign	Het
Tnfaip8	ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,831	probably benign	Het
Zfp384	CCCAGGCCCAGGCCCAGGCCCAGG	CCCAGGCCCAGGACCAGGCCCAGGCCCAGGCCCAGG	6: 125,036,466	probably benign	Het

Other mutations in Nusap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R7947:Nusap1	UTSW	2	119647135	missense	possibly damaging	0.95
R9010:Nusap1	UTSW	2	119648975	missense	possibly damaging	0.91
R9312:Nusap1	UTSW	2	119627638	small deletion	probably benign
R9556:Nusap1	UTSW	2	119648963	missense	not run
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

Predicted Primers

PCR Primer
(F):5'- ATTGCAAGTGCTAGTTCGTTATCTG -3'
(R):5'- TCTACTTCTGAGGAGCCTGC -3'

Sequencing Primer
(F):5'- AGTTCGTTATCTGTGACAAGTTCC -3'
(R):5'- TACTTCTGAGGAGCCTGCAGAAC -3'

Posted On

2019-12-04