Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02794:Nusap1'

359903

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 #

IGL02794

Quality Score

Status

Chromosome

Chromosomal Location

119618298-119651244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 119630386 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Tyrosine at position 120 (F120Y)

Ref Sequence

ENSEMBL: ENSMUSP00000068713 (fasta)

Gene Model

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

AlphaFold

Q9ERH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028771
AA Change: F120Y

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: F120Y

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

possibly damaging
Transcript: ENSMUST00000068225
AA Change: F120Y

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: F120Y

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

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,402,411	C1082S	probably benign	Het
Akt2	G	T	7: 27,629,381	R176L	probably benign	Het
Aldh16a1	A	G	7: 45,145,594	Y484H	probably damaging	Het
Apeh	A	G	9: 108,092,010	S280P	possibly damaging	Het
Atp1a4	T	C	1: 172,244,086	M481V	probably benign	Het
Atraid	G	A	5: 31,052,870	S135N	probably damaging	Het
Camta2	C	T	11: 70,675,658	G677D	possibly damaging	Het
Ccdc18	A	G	5: 108,171,748	N545S	probably benign	Het
Cic	A	G	7: 25,285,644	D1105G	probably damaging	Het
Crisp1	A	T	17: 40,313,066	M4K	unknown	Het
Crnkl1	C	T	2: 145,930,612	E182K	possibly damaging	Het
Dnmt1	A	T	9: 20,936,551	C114S	probably benign	Het
Dsc2	A	T	18: 20,041,731	Y496N	probably damaging	Het
Dst	T	C	1: 34,270,829	V1528A	probably damaging	Het
Fbxl8	C	T	8: 105,268,120	T88M	probably benign	Het
Fbxo10	T	C	4: 45,041,928	N767S	probably benign	Het
Gm1527	A	G	3: 28,895,680	T30A	unknown	Het
Gorasp2	C	A	2: 70,679,494	Y166*	probably null	Het
Gucy2c	T	A	6: 136,713,148	Q744L	probably damaging	Het
Heg1	A	T	16: 33,726,622	N593I	probably damaging	Het
Ice1	T	A	13: 70,609,159	S236C	possibly damaging	Het
Il12b	T	C	11: 44,407,981	Y88H	probably damaging	Het
Izumo3	C	T	4: 92,146,963	V6I	probably benign	Het
Kcna6	A	G	6: 126,738,552	V458A	probably damaging	Het
Kif13b	G	A	14: 64,803,440	R1659Q	probably benign	Het
Klk1b1	A	G	7: 43,970,365	D116G	possibly damaging	Het
Lama2	T	C	10: 27,041,231	T2233A	possibly damaging	Het
Lin9	A	T	1: 180,651,879	K59N	probably damaging	Het
Ltbp2	T	C	12: 84,791,935	E1083G	probably damaging	Het
Mfsd11	T	A	11: 116,859,351	S105T	probably damaging	Het
Mga	T	A	2: 119,946,289	I1768N	possibly damaging	Het
Mical3	C	A	6: 121,007,309	G202V	probably damaging	Het
Mylk	A	T	16: 34,986,541	I1719F	probably benign	Het
Olfr1079	T	C	2: 86,538,148	T256A	possibly damaging	Het
Olfr671	T	A	7: 104,975,389	M203L	probably benign	Het
Olfr923	T	A	9: 38,828,215	C175S	probably damaging	Het
Pidd1	T	C	7: 141,443,108	Y57C	probably benign	Het
Pik3cd	T	A	4: 149,654,571	M671L	probably benign	Het
Ppp5c	A	G	7: 17,006,960	V361A	probably benign	Het
Prune2	T	C	19: 17,119,361	V743A	probably benign	Het
Siglec1	C	A	2: 131,075,969	S996I	possibly damaging	Het
Slc12a7	A	G	13: 73,809,087	R948G	possibly damaging	Het
Slc40a1	A	T	1: 45,909,508	Y537*	probably null	Het
Smarca4	T	A	9: 21,673,342		probably benign	Het
Smg6	C	T	11: 75,053,934	P1109S	probably damaging	Het
Sorl1	T	A	9: 42,063,774	N513Y	probably damaging	Het
Trim58	C	T	11: 58,640,466		probably benign	Het
Trim72	T	C	7: 128,004,532	C17R	probably damaging	Het
Ttc3	T	C	16: 94,467,926	C1956R	probably damaging	Het
Vmn1r211	C	A	13: 22,852,206	S97I	probably damaging	Het
Vmn1r211	T	A	13: 22,852,207	S97C	probably damaging	Het
Vmn1r211	G	T	13: 22,852,209	T96N	possibly damaging	Het
Vmn2r66	A	T	7: 84,995,415	S596T	probably benign	Het
Zfp609	A	G	9: 65,704,320	S454P	possibly 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
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
RF062:Nusap1	UTSW	2	119627610	small insertion	probably benign

Posted On

2015-12-18