Mutagenetix > Incidental Mutation

Incidental Mutation 'RF062:Nusap1'

605432

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 #

RF062 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

119449205-119480646 bp(+) (GRCm39)

Type of Mutation

small insertion (10 aa in frame mutation)

DNA Base Change (assembly)

A to ATACACGTTAGCAGTGAGGAGCAAGCTGAGG at 119458091 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: 99.6%
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: 18 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
Anapc2	GTGGCGGCGGCGGC	G	2: 25,162,549 (GRCm39)	probably null	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,971 (GRCm39)	probably benign	Het
Cckbr	CAG	C	7: 105,083,894 (GRCm39)	probably null	Het
Defb22	TGGCCT	TGGCCTCTGCGGCAGAGCCGGCCT	2: 152,327,745 (GRCm39)	probably benign	Het
Dennd2b	GGGCAGCCCTCACTGA	G	7: 109,156,153 (GRCm39)	probably benign	Het
Dmkn	GGTGGAAGTGGTGGAAGTGGTGGAAGT	GGTGGAAGTGGTGGAAGTGGTGGAAGTCGTGGAAGTGGTGGAAGTGGTGGAAGT	7: 30,466,600 (GRCm39)	probably benign	Het
Efhd2	GCCGCC	GCCGCCTCCGCC	4: 141,602,066 (GRCm39)	probably benign	Het
Efhd2	CC	CCGCCGAC	4: 141,602,085 (GRCm39)	probably benign	Het
Fsip2	TTTT	TTTTGTTT	2: 82,814,707 (GRCm39)	probably benign	Het
Gm11060	CTGTGTG	CTG	2: 104,922,385 (GRCm39)	probably null	Het
Gm5591	GC	G	7: 38,221,759 (GRCm39)	probably null	Het
Krt10	CGCC	CGCCGCC	11: 99,277,025 (GRCm39)	probably benign	Het
Krt10	ACCACCGCC	ACCACCGCCACCGCC	11: 99,280,090 (GRCm39)	probably benign	Het
Nefh	TGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	TGGGGACTTGGCCTCACCGGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,028 (GRCm39)	probably benign	Het
Rfx4	CTCTCTCTCTCTCT	CTCTCTCTCTCTCTCTATCTCTCTCTCTCT	10: 84,694,345 (GRCm39)	probably benign	Het
Tfeb	GCA	GCATCA	17: 48,097,025 (GRCm39)	probably benign	Het
Tnfaip8	ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,179,898 (GRCm39)	probably benign	Het
Zfp384	CCCAGGCCCAGGCCCAGGCCCAGG	CCCAGGCCCAGGACCAGGCCCAGGCCCAGGCCCAGG	6: 125,013,429 (GRCm39)	probably benign	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
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	119,458,082 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTGCAAGTGCTAGTTCGTTATCTG -3'
(R):5'- TCTACTTCTGAGGAGCCTGC -3'

Sequencing Primer
(F):5'- AGTTCGTTATCTGTGACAAGTTCC -3'
(R):5'- TACTTCTGAGGAGCCTGCAGAAC -3'

Posted On

2019-12-04