Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02582:Nusap1'

299384

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02582

Quality Score

Status

Chromosome

Chromosomal Location

119618298-119651244 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

A to G at 119648989 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Tryptophan at position 428 (*428W)

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: *395W

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: *395W

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: *428W

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: *428W

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

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acat1	T	A	9: 53,594,745	I92F	probably benign	Het
Actr3b	A	G	5: 25,832,413	I208V	probably benign	Het
Car12	T	C	9: 66,713,877	V10A	probably benign	Het
Ccdc171	C	A	4: 83,743,018	R1122S	probably damaging	Het
Cep97	A	G	16: 55,922,176	V136A	probably damaging	Het
Cilp2	G	T	8: 69,881,286	Q1021K	probably damaging	Het
Col24a1	C	A	3: 145,314,486	T206N	probably damaging	Het
Crebbp	A	T	16: 4,084,277	I2328K	possibly damaging	Het
Ctns	A	G	11: 73,196,652	F16S	probably benign	Het
Dbf4	T	C	5: 8,403,172	K276E	probably benign	Het
Dnase2b	T	A	3: 146,589,085	Q118L	probably benign	Het
Elf1	T	C	14: 79,536,379	L10P	probably damaging	Het
Exosc5	T	C	7: 25,665,563		probably null	Het
Fam163b	C	T	2: 27,113,558	C28Y	probably damaging	Het
Fam180a	G	T	6: 35,313,712	A112E	possibly damaging	Het
Fam3b	A	T	16: 97,471,191	Y89*	probably null	Het
Gcg	C	T	2: 62,478,578	W77*	probably null	Het
Gm17472	G	A	6: 42,980,898	V34I	possibly damaging	Het
Klhl23	T	A	2: 69,824,238	C151S	probably damaging	Het
Mdh1b	T	A	1: 63,719,597	I279F	probably benign	Het
Mfsd11	T	A	11: 116,873,875	I375N	probably damaging	Het
Mroh2b	T	A	15: 4,908,515	I206N	probably damaging	Het
Myo1b	T	C	1: 51,781,974	E456G	possibly damaging	Het
Nat8	G	A	6: 85,830,801	Q117*	probably null	Het
Nlrp4g	A	C	9: 124,349,764		noncoding transcript	Het
Nmt1	G	T	11: 103,064,799	G468C	possibly damaging	Het
Nobox	G	T	6: 43,305,039	Q367K	possibly damaging	Het
Olfr1261	G	A	2: 89,994,312	M306I	probably benign	Het
Olfr533	T	C	7: 140,466,647	F149L	probably benign	Het
Pbp2	T	C	6: 135,310,149	I67V	probably benign	Het
Pcdhb8	T	G	18: 37,355,374	M35R	possibly damaging	Het
Pkp1	T	C	1: 135,889,926	E157G	probably damaging	Het
Pomgnt1	C	T	4: 116,158,550	L560F	probably damaging	Het
Prkcz	T	C	4: 155,271,256	T227A	probably damaging	Het
Ptprd	T	A	4: 75,947,124	R1446S	probably damaging	Het
Ptprq	T	C	10: 107,643,999	T1137A	probably benign	Het
Sec22c	T	C	9: 121,685,564	I153V	probably benign	Het
Slc30a5	C	T	13: 100,812,647		probably null	Het
Smcr8	T	C	11: 60,778,895	S290P	probably benign	Het
Stambpl1	T	G	19: 34,235,212	L261V	probably benign	Het
Stk38l	T	C	6: 146,766,823		probably null	Het
Themis	T	C	10: 28,761,547	F216L	probably benign	Het
Trmt1l	T	C	1: 151,433,785		probably benign	Het
Usp17lb	C	A	7: 104,840,730	C330F	probably damaging	Het
Vmn2r120	A	T	17: 57,524,724	L355H	probably damaging	Het
Zc3h7b	T	A	15: 81,769,140	C82S	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
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
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

Posted On

2015-04-16