Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02580:Nusap1'

299334

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 #

IGL02580

Quality Score

Status

Chromosome

Chromosomal Location

119449205-119480646 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 119479371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000068713 (fasta)

Gene Model

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

AlphaFold

Q9ERH4

Predicted Effect

probably benign
Transcript: ENSMUST00000028771

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306

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 benign
Transcript: ENSMUST00000068225

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp3	A	T	9: 104,204,147 (GRCm39)	I49N	probably damaging	Het
Aqp8	T	C	7: 123,065,953 (GRCm39)		probably benign	Het
Atrnl1	T	C	19: 57,703,008 (GRCm39)		probably benign	Het
Cdh1	A	G	8: 107,375,650 (GRCm39)	T63A	probably benign	Het
Cenpf	A	G	1: 189,389,638 (GRCm39)	L1398S	probably benign	Het
Ctdp1	T	A	18: 80,493,305 (GRCm39)	S397C	probably benign	Het
Cyp2c37	T	A	19: 39,982,942 (GRCm39)	V177D	probably damaging	Het
Elmo3	A	T	8: 106,035,126 (GRCm39)	D419V	probably damaging	Het
Fabp1	T	C	6: 71,180,128 (GRCm39)	S100P	probably damaging	Het
Hcfc2	A	T	10: 82,564,256 (GRCm39)	N485I	probably benign	Het
Igkv10-95	A	G	6: 68,657,636 (GRCm39)	T51A	probably benign	Het
Iqub	A	G	6: 24,501,398 (GRCm39)	I184T	probably benign	Het
Map2k6	G	A	11: 110,381,667 (GRCm39)	R71H	probably damaging	Het
Mon1b	G	T	8: 114,365,455 (GRCm39)	R261L	possibly damaging	Het
Ncapg2	T	C	12: 116,384,309 (GRCm39)	S257P	probably damaging	Het
Nwd2	A	G	5: 63,965,512 (GRCm39)	R1699G	probably damaging	Het
Olfm3	A	G	3: 114,916,157 (GRCm39)	N363S	probably damaging	Het
Or51g1	C	T	7: 102,633,909 (GRCm39)	S154N	probably damaging	Het
Or9m2	T	C	2: 87,820,857 (GRCm39)	V134A	probably benign	Het
Pirb	T	C	7: 3,717,205 (GRCm39)		probably null	Het
Plch2	G	A	4: 155,069,221 (GRCm39)	T1135I	probably benign	Het
Riox2	G	A	16: 59,306,936 (GRCm39)	V276I	probably benign	Het
Slc11a1	A	G	1: 74,419,418 (GRCm39)	D144G	probably damaging	Het
Usp40	C	A	1: 87,908,688 (GRCm39)		probably null	Het
Vars2	G	A	17: 35,971,777 (GRCm39)	A73V	possibly damaging	Het

Other mutations in Nusap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02582:Nusap1	APN	2	119,479,470 (GRCm39)	makesense	probably null
IGL02732:Nusap1	APN	2	119,466,061 (GRCm39)	missense	probably damaging	0.96
IGL02794:Nusap1	APN	2	119,460,867 (GRCm39)	missense	possibly damaging	0.80
R0635:Nusap1	UTSW	2	119,458,148 (GRCm39)	missense	probably damaging	0.98
R2567:Nusap1	UTSW	2	119,474,311 (GRCm39)	missense	possibly damaging	0.70
R3162:Nusap1	UTSW	2	119,460,885 (GRCm39)	missense	possibly damaging	0.86
R3162:Nusap1	UTSW	2	119,460,885 (GRCm39)	missense	possibly damaging	0.86
R3895:Nusap1	UTSW	2	119,458,172 (GRCm39)	missense	possibly damaging	0.94
R4296:Nusap1	UTSW	2	119,470,129 (GRCm39)	missense	probably damaging	1.00
R5111:Nusap1	UTSW	2	119,460,837 (GRCm39)	nonsense	probably null
R5417:Nusap1	UTSW	2	119,477,624 (GRCm39)	missense	probably damaging	0.98
R5754:Nusap1	UTSW	2	119,477,580 (GRCm39)	missense	probably damaging	1.00
R5818:Nusap1	UTSW	2	119,465,994 (GRCm39)	missense	possibly damaging	0.85
R6176:Nusap1	UTSW	2	119,460,902 (GRCm39)	missense	probably benign	0.01
R7947:Nusap1	UTSW	2	119,477,616 (GRCm39)	missense	possibly damaging	0.95
R9010:Nusap1	UTSW	2	119,479,456 (GRCm39)	missense	possibly damaging	0.91
R9312:Nusap1	UTSW	2	119,458,119 (GRCm39)	small deletion	probably benign
R9556:Nusap1	UTSW	2	119,479,444 (GRCm39)	missense	possibly damaging	0.95
RF003:Nusap1	UTSW	2	119,458,084 (GRCm39)	small insertion	probably benign
RF007:Nusap1	UTSW	2	119,458,062 (GRCm39)	small insertion	probably benign
RF010:Nusap1	UTSW	2	119,458,065 (GRCm39)	small insertion	probably benign
RF016:Nusap1	UTSW	2	119,458,082 (GRCm39)	small insertion	probably benign
RF018:Nusap1	UTSW	2	119,458,059 (GRCm39)	small insertion	probably benign
RF026:Nusap1	UTSW	2	119,458,085 (GRCm39)	small insertion	probably benign
RF026:Nusap1	UTSW	2	119,458,071 (GRCm39)	small insertion	probably benign
RF028:Nusap1	UTSW	2	119,458,072 (GRCm39)	small insertion	probably benign
RF028:Nusap1	UTSW	2	119,458,059 (GRCm39)	small insertion	probably benign
RF029:Nusap1	UTSW	2	119,458,075 (GRCm39)	small insertion	probably benign
RF029:Nusap1	UTSW	2	119,458,086 (GRCm39)	small insertion	probably benign
RF032:Nusap1	UTSW	2	119,458,068 (GRCm39)	small insertion	probably benign
RF033:Nusap1	UTSW	2	119,458,081 (GRCm39)	small insertion	probably benign
RF035:Nusap1	UTSW	2	119,458,060 (GRCm39)	small insertion	probably benign
RF036:Nusap1	UTSW	2	119,458,075 (GRCm39)	small insertion	probably benign
RF036:Nusap1	UTSW	2	119,458,068 (GRCm39)	small insertion	probably benign
RF037:Nusap1	UTSW	2	119,458,070 (GRCm39)	small insertion	probably benign
RF040:Nusap1	UTSW	2	119,458,068 (GRCm39)	small insertion	probably benign
RF041:Nusap1	UTSW	2	119,458,088 (GRCm39)	nonsense	probably null
RF041:Nusap1	UTSW	2	119,458,074 (GRCm39)	small insertion	probably benign
RF041:Nusap1	UTSW	2	119,458,060 (GRCm39)	small insertion	probably benign
RF042:Nusap1	UTSW	2	119,458,088 (GRCm39)	nonsense	probably null
RF043:Nusap1	UTSW	2	119,458,073 (GRCm39)	small insertion	probably benign
RF045:Nusap1	UTSW	2	119,458,091 (GRCm39)	small insertion	probably benign
RF046:Nusap1	UTSW	2	119,458,076 (GRCm39)	nonsense	probably null
RF048:Nusap1	UTSW	2	119,458,080 (GRCm39)	small insertion	probably benign
RF049:Nusap1	UTSW	2	119,458,064 (GRCm39)	small insertion	probably benign
RF052:Nusap1	UTSW	2	119,458,065 (GRCm39)	small insertion	probably benign
RF056:Nusap1	UTSW	2	119,458,072 (GRCm39)	small insertion	probably benign
RF056:Nusap1	UTSW	2	119,458,067 (GRCm39)	small insertion	probably benign
RF056:Nusap1	UTSW	2	119,458,062 (GRCm39)	small insertion	probably benign
RF062:Nusap1	UTSW	2	119,458,091 (GRCm39)	small insertion	probably benign
RF062:Nusap1	UTSW	2	119,458,082 (GRCm39)	small insertion	probably benign

Posted On

2015-04-16