Mutagenetix > Incidental Mutation

Incidental Mutation 'R0635:Nusap1'

56593

Institutional Source

Beutler Lab

Gene Symbol

Nusap1

Ensembl Gene

ENSMUSG00000027306

Gene Name

nucleolar and spindle associated protein 1

Synonyms

2610201A12Rik, NuSAP

MMRRC Submission

038824-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0635 (G1)

Quality Score

143

Status

Validated

Chromosome

Chromosomal Location

119618298-119651244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119627667 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 95 (T95A)

Ref Sequence

ENSEMBL: ENSMUSP00000068713 (fasta)

Gene Model

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

AlphaFold

Q9ERH4

Predicted Effect

probably damaging
Transcript: ENSMUST00000028771
AA Change: T95A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: T95A

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 damaging
Transcript: ENSMUST00000068225
AA Change: T95A

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: T95A

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

0.0909

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.9%

Validation Efficiency

99% (68/69)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	G	14: 49,773,143	L369S	probably benign	Het
4932429P05Rik	T	C	X: 89,752,522		probably benign	Het
5730455P16Rik	A	T	11: 80,374,065		probably benign	Het
Adamts15	A	G	9: 30,904,770	L631P	probably damaging	Het
Adamts17	T	C	7: 66,908,605	F266L	probably damaging	Het
Adgrb1	C	A	15: 74,540,892	Q488K	possibly damaging	Het
Cep290	A	G	10: 100,492,676	D109G	probably damaging	Het
Chil5	A	T	3: 106,017,203	Y229N	possibly damaging	Het
Cntnap1	A	G	11: 101,183,459	T742A	probably benign	Het
Col6a3	A	T	1: 90,808,086		probably null	Het
Col6a5	G	A	9: 105,928,606	P1034S	unknown	Het
Daxx	T	A	17: 33,912,644	D442E	probably benign	Het
Dmxl1	T	C	18: 49,851,423		probably benign	Het
Dnah11	A	G	12: 118,007,996	F2942S	probably damaging	Het
Fam71a	T	C	1: 191,163,727	T240A	probably benign	Het
Glg1	A	G	8: 111,163,764		probably benign	Het
Gm10272	G	A	10: 77,706,701		probably benign	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,852,878		noncoding transcript	Het
Haao	A	G	17: 83,838,574	F83S	probably damaging	Het
Hdgfl2	T	A	17: 56,096,057	L177Q	probably damaging	Het
Hrh1	T	C	6: 114,480,145	V129A	probably damaging	Het
Ift43	T	A	12: 86,085,081		probably benign	Het
Il21r	T	C	7: 125,632,506	Y369H	probably damaging	Het
Il2ra	C	T	2: 11,680,366	T171M	probably benign	Het
Lao1	C	T	4: 118,968,296	R438C	probably benign	Het
Lrrcc1	G	A	3: 14,559,228	S350N	probably benign	Het
Mageb5	T	A	X: 91,779,993	Y260F	probably benign	Het
March5	A	T	19: 37,220,408	I159F	possibly damaging	Het
Mgat4a	G	A	1: 37,452,294	A282V	probably benign	Het
Mipep	G	A	14: 60,829,390	V420I	probably damaging	Het
Morc2b	A	T	17: 33,137,687	F370L	possibly damaging	Het
Mt1	A	T	8: 94,179,821		probably null	Het
Ncapd2	A	G	6: 125,173,036	V943A	probably benign	Het
Nkd2	T	C	13: 73,826,894	D58G	probably benign	Het
Nol8	C	G	13: 49,676,758	S1106C	probably benign	Het
Nrm	C	A	17: 35,864,264	Y61*	probably null	Het
Ocln	T	A	13: 100,506,236	Q197L	probably damaging	Het
Olfr495	T	A	7: 108,395,764	F215I	probably benign	Het
Oxtr	A	G	6: 112,489,200	Y200H	probably damaging	Het
Paip2b	T	C	6: 83,809,909	E115G	possibly damaging	Het
Pcm1	T	A	8: 41,267,179		probably benign	Het
Pcnt	T	C	10: 76,404,585	D1205G	probably damaging	Het
Phka1	G	A	X: 102,621,400	R186C	probably damaging	Het
Pik3cb	A	G	9: 99,064,218		probably benign	Het
Pik3r1	C	T	13: 101,757,418	R81K	probably benign	Het
Ppa1	A	G	10: 61,665,440	D162G	probably benign	Het
Ppa1	A	G	10: 61,666,970	R191G	probably damaging	Het
Prss22	T	A	17: 23,996,688	T87S	probably benign	Het
Rgr	T	A	14: 37,038,947	R218*	probably null	Het
Rreb1	A	T	13: 37,941,564	Q1282L	possibly damaging	Het
Scel	T	A	14: 103,583,139		probably null	Het
Sema6b	A	G	17: 56,129,971		probably null	Het
Slc4a1	T	C	11: 102,352,672	E711G	possibly damaging	Het
Snx19	C	A	9: 30,428,810	L415M	probably damaging	Het
Snx19	T	G	9: 30,428,811	L415R	probably damaging	Het
Specc1	G	A	11: 62,118,903	R495Q	probably damaging	Het
Tead1	T	C	7: 112,891,706		probably benign	Het
Timm10b	A	C	7: 105,640,688		probably benign	Het
Ubxn7	T	A	16: 32,367,417		probably benign	Het
Vmn2r116	T	A	17: 23,386,887	Y258N	possibly damaging	Het
Vmn2r77	T	A	7: 86,811,175	F570I	probably benign	Het
Vmn2r98	T	C	17: 19,080,497	V587A	probably benign	Het
Zfp398	T	C	6: 47,863,140	I101T	probably damaging	Het
Zfp808	T	A	13: 62,172,419	H487Q	probably damaging	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
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
RF062:Nusap1	UTSW	2	119627610	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTTTGTGGTCTGGGAGAAAAGCC -3'
(R):5'- AGTGCTAGGATCAGGTGTACAGTGG -3'

Sequencing Primer
(F):5'- TCCTTTAGCTTAGGAAGCAGTC -3'
(R):5'- GCAGACATGGATCTCTACTTCTGAG -3'

Posted On

2013-07-11