Mutagenetix > Incidental Mutation

Incidental Mutation 'RF052:Nusap1'

605157

Institutional Source

Beutler Lab

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 #

RF052 (G1)

Quality Score

213.468

Status

Not validated

Chromosome

Chromosomal Location

119449205-119480646 bp(+) (GRCm39)

Type of Mutation

small insertion (10 aa in frame mutation)

DNA Base Change (assembly)

ACGTTAGCAGTGAGGAGCAAGCTGAGA to ACGTTAGCAGTGAGGAGCAAGCTGAGATACGCGTTAGCAGTGAGGAGCAAGCTGAGA at 119458065 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

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	CCGCCCACG	CCGCCCACGCCCACG	16: 56,447,948 (GRCm39)		probably benign	Het
Chd4	CC	CCACTGGC	6: 125,099,108 (GRCm39)		probably benign	Het
Chga	CAG	CAGAAG	12: 102,527,675 (GRCm39)		probably benign	Het
Cnpy3	CTC	CTCATC	17: 47,047,674 (GRCm39)		probably benign	Het
Cyb5r4	GGATGTGACAGACACACTGCCCAG	GGATGTGACAGACACACTGCCCAGTGATGTGACAGACACACTGCCCAG	9: 86,922,475 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,589 (GRCm39)		probably benign	Het
Gabre	GGCTCC	GGCTCCTGCTCC	X: 71,313,653 (GRCm39)		probably benign	Het
Gm5591	CACAGGCAGA	CA	7: 38,221,999 (GRCm39)		probably null	Het
Irag2	A	ACCCC	6: 145,106,257 (GRCm39)		probably benign	Het
Lkaaear1	C	T	2: 181,339,226 (GRCm39)	D75N	probably damaging	Het
Map1a	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCAGCTCCAGCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 121,136,776 (GRCm39)		probably benign	Het
Prp2	AGCGACCCCCTCAAGGCCCACCACCACCAGGTGGCCCACAGCCGAGACCCCCTCAAGGCCCACCACC	AGAGACCCCCTCAAGGCCCACCACC	6: 132,577,475 (GRCm39)		probably benign	Het
Rassf6	CATGGTCCTGTAGAGCAATGGGGATTC	CATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACTAATGGTCCTGTAGAGCAATGGGGATTC	5: 90,756,775 (GRCm39)		probably benign	Het
Rassf6	CTGTAGAGCAATGGGGATTC	CTGTAGAGCAATGGGGATTCTGCCTCACTCATGGTCATGTAGAGCAATGGGGATTC	5: 90,756,782 (GRCm39)		probably benign	Het
Setd1a	G	GTGGTGGTGT	7: 127,384,529 (GRCm39)		probably benign	Het
Supt20	AGCAGC	AGCAGCCGCAGC	3: 54,635,086 (GRCm39)		probably benign	Het
Tnfaip8	ACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,900 (GRCm39)		probably null	Het

Other mutations in Nusap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02580:Nusap1	APN	2	119,479,371 (GRCm39)	splice site	probably benign
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	119,458,059 (GRCm39)	small insertion	probably benign
RF028:Nusap1	UTSW	2	119,458,072 (GRCm39)	small insertion	probably benign
RF029:Nusap1	UTSW	2	119,458,086 (GRCm39)	small insertion	probably benign
RF029:Nusap1	UTSW	2	119,458,075 (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
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

Predicted Primers

PCR Primer
(F):5'- TCGGACCATCCTGTGTTCATAC -3'
(R):5'- GCATGTTTCCAGTCATCTAGC -3'

Sequencing Primer
(F):5'- GGACCATCCTGTGTTCATACTGTAAC -3'
(R):5'- TCCAGTCATCTAGCATCATGAAGG -3'

Posted On

2019-12-04