Mutagenetix > Incidental Mutations

Incidental Mutation 'R4296:Nusap1'

323297

Institutional Source

Beutler Lab

Gene Symbol

Nusap1

Ensembl Gene

ENSMUSG00000027306

Gene Name

nucleolar and spindle associated protein 1

Synonyms

2610201A12Rik, NuSAP

MMRRC Submission

041656-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4296 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119618298-119651244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119639648 bp

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 259 (H259R)

Ref Sequence

ENSEMBL: ENSMUSP00000028771 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000028771
AA Change: H259R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: H259R

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 damaging
Transcript: ENSMUST00000068225
AA Change: H292R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: H292R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153036

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.6%

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	G	T	19: 43,823,074	G993C	probably damaging	Het
Abcc2	G	C	19: 43,823,075	G993A	probably damaging	Het
Abi3bp	A	T	16: 56,668,310	H810L	probably benign	Het
Aldh1l2	T	C	10: 83,522,777	D5G	probably benign	Het
Aldh7a1	A	T	18: 56,544,963		probably null	Het
Aox1	T	A	1: 58,057,400		probably null	Het
Apbb1	G	T	7: 105,573,826	Q193K	probably benign	Het
Arl9	C	A	5: 77,006,549	N41K	probably damaging	Het
Armc1	A	G	3: 19,149,516	M82T	probably damaging	Het
Bms1	T	C	6: 118,404,999	E526G	probably damaging	Het
Cacna1a	C	T	8: 84,559,293	R809C	probably damaging	Het
Cd200r1	T	C	16: 44,789,670	I84T	probably damaging	Het
Cgrrf1	T	C	14: 46,832,355	V27A	probably damaging	Het
Clec4f	G	A	6: 83,652,575	Q334*	probably null	Het
Cpeb3	C	T	19: 37,173,989	G329D	possibly damaging	Het
Ctnnbl1	C	T	2: 157,819,570		probably null	Het
Dip2b	A	T	15: 100,181,336	M810L	probably benign	Het
Eml3	T	C	19: 8,931,409	S158P	probably damaging	Het
Eps8l2	G	T	7: 141,358,262	E470*	probably null	Het
Flt3l	A	G	7: 45,134,004	F146S	probably damaging	Het
Glmn	A	T	5: 107,558,502	V419E	possibly damaging	Het
Gm11360	T	A	13: 27,956,312	I53N	probably damaging	Het
Gpbp1l1	T	A	4: 116,587,459	V275D	possibly damaging	Het
Harbi1	T	A	2: 91,712,755	M187K	possibly damaging	Het
Has3	T	C	8: 106,878,422	V420A	possibly damaging	Het
Huwe1	C	A	X: 151,888,448	T1012K	probably benign	Het
Iqcg	G	A	16: 33,016,975		probably benign	Het
Itga4	G	A	2: 79,272,799	G111R	probably damaging	Het
Keap1	A	G	9: 21,233,986	S243P	probably damaging	Het
Kmt2a	C	T	9: 44,821,175		probably benign	Het
Lrrk2	A	G	15: 91,699,895	N286S	probably damaging	Het
Ltbp3	A	T	19: 5,756,582		probably null	Het
Mbtps1	C	T	8: 119,522,499	C684Y	possibly damaging	Het
Mcm3ap	A	T	10: 76,507,337	I1688F	probably damaging	Het
Midn	C	T	10: 80,151,719	T21I	probably damaging	Het
Naf1	C	T	8: 66,889,462	P580S	possibly damaging	Het
Nlrp3	A	T	11: 59,549,661	E688V	possibly damaging	Het
Nxpe4	A	G	9: 48,398,984	T516A	probably damaging	Het
Oas1g	T	A	5: 120,879,167	T275S	probably damaging	Het
Ogdh	T	G	11: 6,349,374	F743V	probably damaging	Het
Olfr1109	T	C	2: 87,092,630	T256A	probably benign	Het
Olfr1505	A	G	19: 13,919,353	E111G	probably damaging	Het
Olfr192	G	A	16: 59,098,761	T77I	unknown	Het
Olfr790	C	A	10: 129,501,470	C195*	probably null	Het
Olfr811	C	A	10: 129,802,300	C75F	probably damaging	Het
Pdzd3	G	A	9: 44,248,861	R349C	probably benign	Het
Peg10	GGAT	GGATCCCCATCATGAT	6: 4,756,472		probably benign	Het
Piezo1	T	A	8: 122,491,127	Y819F	probably damaging	Het
Plekhg2	C	A	7: 28,371,166	G20C	probably damaging	Het
Polq	A	G	16: 37,061,301	T997A	possibly damaging	Het
Polr3a	T	A	14: 24,453,196	Q1190L	possibly damaging	Het
Ppp1r15a	T	A	7: 45,523,749	K800*	probably null	Het
Prkdc	T	A	16: 15,737,905	M2181K	probably damaging	Het
Pskh1	C	A	8: 105,912,904	A72E	probably benign	Het
Purg	T	C	8: 33,387,293	Y320H	probably damaging	Het
Rab3gap2	T	A	1: 185,255,837		probably null	Het
Rnps1	T	A	17: 24,425,115		probably benign	Het
Scgb2b21	A	T	7: 33,519,808	V57E	probably benign	Het
Sdhaf2	A	T	19: 10,525,075	I7N	probably benign	Het
Six4	A	G	12: 73,104,125	Y549H	probably damaging	Het
Slc4a10	G	T	2: 62,234,428	V209F	possibly damaging	Het
Slc4a11	C	A	2: 130,685,007	V734F	probably benign	Het
Stk4	T	A	2: 164,117,984	M27K	possibly damaging	Het
Tecrl	A	T	5: 83,313,327	C79*	probably null	Het
Tgm3	G	T	2: 130,038,413	V380L	possibly damaging	Het
Tiam2	A	T	17: 3,450,845	M920L	probably benign	Het
Tjp1	T	C	7: 65,318,489	N729S	probably damaging	Het
Tlr12	A	G	4: 128,617,788	L223P	probably damaging	Het
Tmem268	T	C	4: 63,565,768		probably null	Het
Tmpo	A	T	10: 91,162,956	I323K	possibly damaging	Het
Tmx4	T	C	2: 134,598,629	S302G	probably benign	Het
Trip11	C	A	12: 101,885,868	E361*	probably null	Het
Tspyl3	T	A	2: 153,225,156	N54I	possibly damaging	Het
Upp2	A	T	2: 58,778,009	Y220F	probably damaging	Het
Usp22	G	T	11: 61,161,464		probably null	Het
Vezt	ACTCCTCCT	ACTCCT	10: 93,973,931		probably benign	Het
Vmn1r235	G	T	17: 21,262,300	G296W	probably damaging	Het
Vmn1r89	T	C	7: 13,220,186	V94A	possibly damaging	Het
Zfp607a	A	T	7: 27,865,648	E80V	probably damaging	Het

Other mutations in Nusap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02580:Nusap1	APN	2	119648890	splice site	probably benign
IGL02582:Nusap1	APN	2	119648989	makesense	probably null
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
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
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

Predicted Primers

PCR Primer
(F):5'- TGAGATCATTCGAGGCAGCTG -3'
(R):5'- GCATTTCTTCCACCAGGGTAAATG -3'

Sequencing Primer
(F):5'- GCTGCTGCCACCAAAGC -3'
(R):5'- ATCCTATTGTGGTTTTGCACTTGAC -3'

Posted On

2015-06-20