Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02732:Nusap1'

305517

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02732

Quality Score

Status

Chromosome

Chromosomal Location

119618298-119651244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119635580 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 227 (E227G)

Ref Sequence

ENSEMBL: ENSMUSP00000068713 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028771
AA Change: E194G

PolyPhen 2 Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: E194G

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: E227G

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: E227G

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: ENSMUST00000153036

Coding Region Coverage

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007K13Rik	T	C	2: 28,465,180	N91S	probably damaging	Het
2410089E03Rik	A	G	15: 8,179,891	T271A	probably benign	Het
9230110F15Rik	C	T	9: 35,839,049	G109D	probably damaging	Het
Apoo-ps	C	A	13: 107,414,623		noncoding transcript	Het
Ash1l	T	A	3: 88,966,228	V106E	probably damaging	Het
Baz2a	A	G	10: 128,125,175	T1618A	possibly damaging	Het
Brca1	A	G	11: 101,492,219	S1732P	probably benign	Het
Cdh1	T	A	8: 106,666,323	I813N	probably damaging	Het
Cdk5rap2	G	A	4: 70,266,665	R1183*	probably null	Het
Cep170	C	T	1: 176,736,874	E1479K	probably damaging	Het
Cep68	A	T	11: 20,236,109		probably benign	Het
Cog7	C	T	7: 121,923,367	V750I	probably benign	Het
Cyb5d1	A	C	11: 69,393,809		probably null	Het
Dlgap4	A	G	2: 156,749,323	K120E	probably benign	Het
Dmtf1	T	C	5: 9,136,098	I75V	possibly damaging	Het
Fam103a1	T	C	7: 81,767,725		probably null	Het
Fam208b	A	G	13: 3,573,626	V2108A	probably benign	Het
Fnip2	T	C	3: 79,465,697	T995A	probably damaging	Het
Hecw2	G	A	1: 53,926,688		probably benign	Het
Il17rd	T	A	14: 27,087,419	F111I	probably damaging	Het
Itgb8	A	C	12: 119,163,353	M722R	probably benign	Het
Maip1	A	G	1: 57,409,955	D165G	probably damaging	Het
Mcm6	A	T	1: 128,359,490	C26S	probably benign	Het
Mdp1	T	C	14: 55,659,221	I128V	possibly damaging	Het
Myof	A	T	19: 37,977,716	F385L	possibly damaging	Het
Nebl	C	T	2: 17,452,484		probably benign	Het
Olfr142	A	G	2: 90,252,308	S227P	probably damaging	Het
Olfr594	A	C	7: 103,220,240	N174T	probably benign	Het
Olfr631	T	G	7: 103,929,129	M102R	probably damaging	Het
Pamr1	A	T	2: 102,642,141	H595L	probably benign	Het
Pdgfc	G	A	3: 81,037,557		probably benign	Het
Ptpn22	A	T	3: 103,886,033	E500V	probably damaging	Het
Ptprg	G	T	14: 12,225,617		probably null	Het
R3hdm2	T	C	10: 127,484,060	F513L	probably benign	Het
Rhobtb3	C	A	13: 75,910,937	L247F	probably damaging	Het
Scfd1	T	C	12: 51,422,973	S434P	probably benign	Het
Serpinb3d	T	A	1: 107,082,796		probably null	Het
Sin3b	T	C	8: 72,733,453	F223L	possibly damaging	Het
Slc9c1	T	C	16: 45,550,185	V263A	possibly damaging	Het
Sntb1	A	G	15: 55,792,200	S207P	possibly damaging	Het
Sqor	A	T	2: 122,799,762	T1S	possibly damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Ssh2	A	G	11: 77,437,776		probably null	Het
Tmod2	A	G	9: 75,586,172	V167A	possibly damaging	Het
Trak2	G	A	1: 58,910,063	T526M	probably benign	Het
Trdn	G	A	10: 33,468,199		probably null	Het
Trim5	T	A	7: 104,278,465	E156V	probably benign	Het
Twf1	A	G	15: 94,581,009	S273P	probably damaging	Het
Xylt1	T	C	7: 117,591,937	V320A	possibly damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	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
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
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

Posted On

2015-04-16