Mutagenetix > Incidental Mutation

Incidental Mutation 'RF048:Nusap1'

605069

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 #

RF048 (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)

AGCAAGCTGAGA to AGCAAGCTGAGATACACGTTAGCATTGAGGCGCAAGCTGAGA at 119458080 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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	GAGCTGA	G	4: 63,296,078 (GRCm39)		probably benign	Het
Celf4	G	T	18: 25,634,378 (GRCm39)	P326T	probably benign	Het
Chga	GCA	GCACCA	12: 102,527,662 (GRCm39)		probably benign	Het
Chga	GCA	GCATCA	12: 102,527,680 (GRCm39)		probably benign	Het
Cntnap1	TTT	TTTTGTT	11: 101,071,131 (GRCm39)		probably benign	Het
Cntnap1	AACCCC	AACCCCCACCCC	11: 101,080,389 (GRCm39)		probably benign	Het
Dnaaf9	CATC	CATCATC	2: 130,612,654 (GRCm39)		probably null	Het
Dnmt1	AGCACAGTTCCTACCTCGTT	AGCACAGTTCCTACCTCGTTTTGGGGGCGGGGCACAGTTCCTACCTCGTT	9: 20,821,422 (GRCm39)		probably null	Het
Gar1	CGCCGCCG	C	3: 129,624,349 (GRCm39)		probably null	Het
Gm15155	AA	AACAACAAA	X: 155,128,637 (GRCm39)		probably null	Het
Irag2	GCACATTG	GCACATTGAACACATTG	6: 145,119,510 (GRCm39)		probably benign	Het
Mamld1	CA	CAGTA	X: 70,162,458 (GRCm39)		probably null	Het
Ncoa6	CTGTTG	CTG	2: 155,263,632 (GRCm39)		probably benign	Het
Nefh	CCTCAGCTGG	CCTCAGCTGGAGACTTGGGCTCAGCTGG	11: 4,891,003 (GRCm39)		probably benign	Het
Nefh	AGCTGGGGAC	AGCTGGGGACCTGGCCTCAGCTGGGGAC	11: 4,891,007 (GRCm39)		probably benign	Het
Nphs2	GCCACC	GCCACCCGAGGGGAGCCCCGAGCTCCAGCCTCCACC	1: 156,138,541 (GRCm39)		probably benign	Het
Nup155	T	TTTTTTG	15: 8,148,660 (GRCm39)		probably benign	Het
Pdik1l	TGTTTT	TGTTTTGTTTTGGTTTT	4: 134,006,683 (GRCm39)		probably null	Het
Polr1has	CCACCACCACCAC	CCACCACCACCACCCCCACCCACACCACCACCAC	17: 37,275,951 (GRCm39)		probably benign	Het
Rnf144a	CTCTCTC	CTCTCTCTCTCTCTATCTCTC	12: 26,364,010 (GRCm39)		probably benign	Het
Sbp	G	GCTGACAACAAAGATT	17: 24,164,363 (GRCm39)		probably benign	Het
Strn	TC	TCCGTGCTCCCTTACCCCAGTGCGTGCGCCCTTACCCCAGAC	17: 78,984,716 (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
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

Predicted Primers

PCR Primer
(F):5'- TGGATGCTCTCCTTTCGGAC -3'
(R):5'- TCATCTAGCATCATGAAGGAAGG -3'

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

Posted On

2019-12-04