Mutagenetix > Incidental Mutations

Incidental Mutation 'RF032:Nusap1'

604396

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 #

RF032 (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)

TTAGCAGTGAGGAGCAAGCTGAGA to TTAGCAGTGAGGAGCAAGCTGAGATACACGGTAGCAGTGAGGAGCAAGCTGAGA at 119627587 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068713 (fasta)

Gene Model

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

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: 99.7%
10x: 99.3%
20x: 98.4%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	TACCT	TACCTGACCT	17: 24,287,727		probably null	Het
Acap3	CTGCTG	CTGCTGCATCCTGGGATGCTG	4: 155,905,102		probably benign	Het
Arid1b	GCG	GCGTCG	17: 4,995,588		probably benign	Het
Blm	CTCC	CTCCTCCTCCTCGTCC	7: 80,512,930		probably benign	Het
Cacna1f	GAG	GAGTAG	X: 7,620,063		probably null	Het
Calhm1	C	CTGTGGCCGTGG	19: 47,141,283		probably null	Het
Cluh	CCCGAGCC	CCCGAGCCCGAGCC	11: 74,669,515		probably benign	Het
Cyb5r4	ACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACTGCCCAGGGATGTGACAGACACGCTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 87,040,413		probably benign	Het
Dmkn	GT	GTTGTGAAAGTGGTGGAAGTGGTGGAATT	7: 30,767,182		probably benign	Het
Efhd2	CGCC	CGCCGCAGCC	4: 141,874,772		probably benign	Het
Enah	TGGCGGTGG	TG	1: 181,921,929		probably null	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,778		probably benign	Het
H2-T10	TTTCCCACTGTA	T	17: 36,120,294		probably null	Het
Ifi207	GCCTGAGCTGTGGAAGTCTCCCCCTGAGCTGTGGAAGTCTC	GCCTGAGCTGTGGAAGTCTC	1: 173,735,157		probably benign	Het
Igf1r	GATGGAGC	GATGGAGCTGGATATGGAGC	7: 68,226,179		probably benign	Het
Krtap28-10	AGCCACAGCCACCACAGCCACAGCCACCAC	AGCCACAGCCACCACCGCCACAGCCACCACAGCCACAGCCACCAC	1: 83,042,258		probably benign	Het
Lmx1b	TCCATCTTGATGCCGTCCAACATCTTGATGCCGTCCA	TACATCTTGATGCCGTCCA	2: 33,640,489		probably null	Het
Med12l	CAG	CAGAAG	3: 59,275,981		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,985		probably benign	Het
Med12l	GCA	GCACCA	3: 59,275,989		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,711		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936		probably null	Het
Olfr418	GTGACATC	G	1: 173,270,709		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Het
Pik3c2g	G	GGAGA	6: 139,635,658		probably null	Het
Pou3f1	GGCGGCCG	GGCGGCCGCGGCCG	4: 124,657,805		probably benign	Het
Rassf6	ATTC	ATTCTGCCTCACTCATGGTCCTGTAGAGCAATGGGGCTTC	5: 90,608,939		probably benign	Het
Reep1	CC	CCCGAC	6: 71,707,968		probably null	Het
Slc12a1	ACAAACC	ACAAACCTTTGGCCACCAAACC	2: 125,154,210		probably benign	Het
Smpx	CCCCCCA	C	X: 157,720,923		probably benign	Het
Spaca1	TCGC	TCGCTCACGC	4: 34,049,854		probably benign	Het
Supt20	GCAGCA	GCAGCACCAGCA	3: 54,727,666		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,616,063		probably benign	Het
Tgoln1	T	TCACCTCCCGTGGGCTTGCCAGAAG	6: 72,616,074		probably benign	Het
Triobp	CCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	CCCCAGGACTCCCTGTGCCCAACGGAACAATCCCAGGACTCCCTGTGCCCAACGGGACAATCCCAGG	15: 78,967,036		probably benign	Het
Vat1l	C	T	8: 114,289,329	L320F	probably damaging	Het
Zfhx3	CAGCAACAG	CAGCAACAGAAGCAACAG	8: 108,956,092		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
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
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'- CGGACCATCCTGTGTTCATAC -3'
(R):5'- TCCAGTCATCTAGCATCATGAAGG -3'

Sequencing Primer
(F):5'- GGACCATCCTGTGTTCATACTGTAAC -3'
(R):5'- CACTAAAAGTGTGCCAGTTATGG -3'

Posted On

2019-12-04