Mutagenetix > Incidental Mutation

Incidental Mutation 'R5111:Nusap1'

393839

Institutional Source

Beutler Lab

Gene Symbol

Nusap1

Ensembl Gene

ENSMUSG00000027306

Gene Name

nucleolar and spindle associated protein 1

Synonyms

2610201A12Rik, NuSAP

MMRRC Submission

042699-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5111 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119618298-119651244 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 119630356 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 110 (L110*)

Ref Sequence

ENSEMBL: ENSMUSP00000068713 (fasta)

Gene Model

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

AlphaFold

Q9ERH4

Predicted Effect

probably null
Transcript: ENSMUST00000028771
AA Change: L110*

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: L110*

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 null
Transcript: ENSMUST00000068225
AA Change: L110*

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: L110*

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153036

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (56/56)

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd17c	A	T	7: 84,151,438	L136*	probably null	Het
Ankrd17	A	T	5: 90,242,999	S2271T	possibly damaging	Het
Arhgef10	A	G	8: 14,932,408	D179G	probably benign	Het
Bcan	G	T	3: 87,994,207	S396Y	probably damaging	Het
Btbd3	T	A	2: 138,278,909	M1K	probably null	Het
Capns1	A	G	7: 30,192,519	V106A	probably benign	Het
Ccnjl	A	G	11: 43,556,717	T76A	probably benign	Het
Cdc23	C	A	18: 34,651,689	V7L	unknown	Het
Col6a6	C	T	9: 105,709,474	V1783I	possibly damaging	Het
Crisp3	T	C	17: 40,225,804	T207A	possibly damaging	Het
Crxos	G	A	7: 15,896,217		probably benign	Het
Csf3r	T	C	4: 126,030,068		probably null	Het
Cyp2a12	A	G	7: 27,036,621	Y485C	possibly damaging	Het
Echdc2	A	T	4: 108,169,797		probably benign	Het
Elp3	A	C	14: 65,560,236	Y329D	probably damaging	Het
Fbxw16	T	C	9: 109,436,728	D341G	probably benign	Het
H2-Ab1	T	A	17: 34,267,482	S172T	probably damaging	Het
Hyal2	T	C	9: 107,571,111	V321A	probably benign	Het
Ighv6-3	A	T	12: 114,391,774	S98R	probably benign	Het
Kank3	A	G	17: 33,818,181	E153G	possibly damaging	Het
Klrb1c	C	T	6: 128,786,005	R83H	probably benign	Het
Krtap16-1	T	C	11: 99,986,552	K9E	possibly damaging	Het
Liph	G	A	16: 21,984,070	S83F	probably damaging	Het
Lnpep	A	G	17: 17,578,610	I261T	possibly damaging	Het
Mdm2	A	T	10: 117,691,221	V273D	possibly damaging	Het
Mterf1a	A	G	5: 3,891,860	S3P	probably benign	Het
Myt1	A	G	2: 181,795,885	T172A	probably benign	Het
Nufip2	T	A	11: 77,691,843	S194R	probably benign	Het
Palb2	A	T	7: 122,117,305	C488*	probably null	Het
Pcdhac1	A	T	18: 37,091,505	N457I	probably damaging	Het
Per1	A	T	11: 69,100,786	S49C	probably damaging	Het
Ppargc1b	A	T	18: 61,310,487	I535N	probably damaging	Het
Rb1cc1	T	C	1: 6,214,634		probably benign	Het
Rpap1	A	T	2: 119,771,247	L744Q	probably damaging	Het
Sdk1	A	G	5: 142,127,845	E1549G	probably damaging	Het
Tnr	C	T	1: 159,886,228	T742I	probably benign	Het
Trp53bp1	A	T	2: 121,211,387	H1229Q	probably damaging	Het
Unc80	A	G	1: 66,527,995	H920R	possibly damaging	Het
Urb1	A	C	16: 90,752,017	S2268A	probably benign	Het
Usp32	A	T	11: 85,077,331	Y169N	possibly damaging	Het
Vmn2r18	A	T	5: 151,562,448	M527K	possibly damaging	Het
Vmn2r93	A	T	17: 18,326,064	I733F	probably damaging	Het
Vstm2l	A	G	2: 157,935,469	D89G	probably damaging	Het
Zdhhc8	G	T	16: 18,226,748	Q303K	probably benign	Het
Zfand2a	A	G	5: 139,473,754	V159A	probably benign	Het
Zswim6	A	G	13: 107,728,635		noncoding transcript	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
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	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

Predicted Primers

PCR Primer
(F):5'- TGACCTCTAGTGCCTGCTTG -3'
(R):5'- CTGGCTTGCATTCCTAGGAAAATAATC -3'

Sequencing Primer
(F):5'- TGGAAATTATAATTTGGAGCACTGGG -3'
(R):5'- ACATGGTCCCCCTAGCAGTTTTAG -3'

Posted On

2016-06-15