Mutagenetix > Incidental Mutation

Incidental Mutation 'R3162:Nusap1'

500434

Institutional Source

Beutler Lab

Gene Symbol

Nusap1

Ensembl Gene

ENSMUSG00000027306

Gene Name

nucleolar and spindle associated protein 1

Synonyms

2610201A12Rik, NuSAP

MMRRC Submission

040613-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R3162 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119618298-119651244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119630404 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 126 (Q126L)

Ref Sequence

ENSEMBL: ENSMUSP00000068713 (fasta)

Gene Model

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

AlphaFold

Q9ERH4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028771
AA Change: Q126L

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: Q126L

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

possibly damaging
Transcript: ENSMUST00000068225
AA Change: Q126L

PolyPhen 2 Score 0.858 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: Q126L

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: ENSMUST00000082972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125491

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153036

Meta Mutation Damage Score

0.1275

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (49/50)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 63,896,490		probably benign	Het
1700074P13Rik	A	G	6: 40,926,069	M123T	probably benign	Het
4933412E24Rik	T	A	15: 60,016,285	E102V	probably damaging	Het
Adcy9	A	G	16: 4,311,588	L715P	probably damaging	Het
Adgre4	T	C	17: 55,802,218		probably benign	Het
Amer2	A	G	14: 60,378,551	D65G	probably damaging	Het
Atad2b	C	A	12: 4,939,689	N133K	possibly damaging	Het
AW551984	C	A	9: 39,593,029	R547L	probably damaging	Het
B3galt6	A	G	4: 155,992,007	Y204H	probably benign	Het
Btnl2	T	C	17: 34,358,065	W65R	probably damaging	Het
Camk1g	T	C	1: 193,359,807	T45A	possibly damaging	Het
Caps2	C	A	10: 112,182,486	Y180*	probably null	Het
Ccdc181	T	A	1: 164,280,296	S183T	probably damaging	Het
Cdc14b	A	G	13: 64,246,608		probably benign	Het
Cep350	T	C	1: 155,863,164	H2311R	probably benign	Het
Cfap54	T	A	10: 93,045,278	K349N	probably damaging	Het
Copa	T	A	1: 172,091,233	C127S	probably damaging	Het
Crbn	T	C	6: 106,790,866	Q221R	probably benign	Het
Dapk2	T	G	9: 66,254,611	V267G	probably damaging	Het
Ddb1	T	C	19: 10,625,971	L881P	probably damaging	Het
Decr1	T	A	4: 15,930,972	D120V	probably damaging	Het
Dennd1c	C	T	17: 57,066,562	G637D	possibly damaging	Het
Dhrs3	A	G	4: 144,919,446	D108G	possibly damaging	Het
Disp1	T	C	1: 183,087,242	K1205E	probably benign	Het
Dnajc13	G	T	9: 104,219,898	N510K	possibly damaging	Het
Dusp6	T	C	10: 99,264,082	Y131H	probably damaging	Het
Eif2b2	A	T	12: 85,219,661	M34L	probably benign	Het
Epsti1	A	T	14: 77,974,513		probably benign	Het
Errfi1	G	A	4: 150,867,359	E415K	probably damaging	Het
Ext1	T	C	15: 53,344,604	N254D	possibly damaging	Het
Fam84b	A	T	15: 60,823,447	V150E	probably damaging	Het
Gm7337	A	C	5: 87,851,557		noncoding transcript	Het
Hnrnpu	T	C	1: 178,331,125		probably benign	Het
Hyal3	T	A	9: 107,586,806	C407S	probably damaging	Het
Insr	T	G	8: 3,161,416	N1141T	possibly damaging	Het
Ipo9	T	C	1: 135,409,476	T174A	probably benign	Het
Iqgap1	G	A	7: 80,752,338	A393V	probably benign	Het
Irak2	G	T	6: 113,672,760	A119S	probably benign	Het
Itgb2l	A	G	16: 96,437,389	L70P	probably damaging	Het
Itsn1	C	A	16: 91,853,044	S202*	probably null	Het
Ivd	T	C	2: 118,862,169		probably null	Het
Leprot	C	T	4: 101,657,893	T89I	probably damaging	Het
Mill2	A	C	7: 18,856,174	E127A	probably benign	Het
Msh6	T	C	17: 87,985,481	Y555H	probably damaging	Het
Myo18b	A	C	5: 112,692,728	S2400A	probably damaging	Het
Naa25	A	G	5: 121,435,072		probably null	Het
Nop2	A	G	6: 125,134,592	N96S	probably benign	Het
Nup155	G	T	15: 8,148,383	R1083S	possibly damaging	Het
Olfr1042	T	C	2: 86,160,095	I92V	probably benign	Het
Olfr1263	T	G	2: 90,015,021	Y30*	probably null	Het
Olfr1351	C	A	10: 79,017,604	T94N	probably benign	Het
Olfr156	T	A	4: 43,820,544	K272N	probably benign	Het
Olfr30	T	C	11: 58,455,227	T241A	probably damaging	Het
Olfr739	T	A	14: 50,425,031	C171S	probably damaging	Het
Olfr986	G	T	9: 40,187,605	Q163H	probably benign	Het
Pde5a	T	A	3: 122,781,628	L356*	probably null	Het
Pdik1l	A	G	4: 134,284,250	L94S	probably damaging	Het
Pkdrej	T	A	15: 85,816,617	D1706V	probably damaging	Het
Pkhd1l1	A	G	15: 44,505,528	I856M	probably damaging	Het
Prkcz	A	T	4: 155,290,524	D114E	probably benign	Het
Psap	T	C	10: 60,277,753	L4P	possibly damaging	Het
Ptprk	T	C	10: 28,592,826	V1402A	probably benign	Het
Rai14	T	C	15: 10,633,164	T47A	possibly damaging	Het
Ralgapa1	A	T	12: 55,709,586	N1075K	probably damaging	Het
Rlf	A	G	4: 121,148,847	S979P	probably damaging	Het
Rps2	G	T	17: 24,720,978	A129S	probably benign	Het
Serinc2	A	G	4: 130,260,735	S175P	probably benign	Het
Skiv2l	C	T	17: 34,847,813	W88*	probably null	Het
Socs5	A	T	17: 87,134,718	Q362L	probably damaging	Het
Srbd1	A	T	17: 86,130,215	D233E	probably benign	Het
Srgap3	A	G	6: 112,729,658	V826A	probably benign	Het
Tacr2	A	G	10: 62,265,245	D378G	probably benign	Het
Taok2	A	G	7: 126,875,175	I294T	possibly damaging	Het
Tert	A	G	13: 73,627,409	E93G	possibly damaging	Het
Tns2	A	G	15: 102,113,336	E1118G	possibly damaging	Het
Topaz1	T	C	9: 122,749,381	I452T	probably benign	Het
Trak1	C	T	9: 121,451,734		probably benign	Het
Ttc22	A	T	4: 106,623,079	I177F	probably damaging	Het
Tuba8	A	G	6: 121,222,738	D127G	possibly damaging	Het
Tulp4	A	G	17: 6,198,708	M1V	probably null	Het
Urb1	A	G	16: 90,797,903	L247P	probably damaging	Het
Usp32	A	G	11: 85,025,536	W861R	probably damaging	Het
Vmn1r48	G	A	6: 90,036,378	T155I	probably benign	Het
Vmn2r117	A	G	17: 23,460,378	L624P	probably damaging	Het
Vmn2r86	T	C	10: 130,455,804	R31G	probably damaging	Het
Vstm5	T	G	9: 15,257,298	S53A	probably benign	Het
Wnt5a	T	C	14: 28,522,488	Y231H	probably benign	Het
Yeats2	T	C	16: 20,193,645	V531A	probably damaging	Het
Zw10	T	C	9: 49,077,560	Y709H	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
R3895:Nusap1	UTSW	2	119627691	missense	possibly damaging	0.94
R4296:Nusap1	UTSW	2	119639648	missense	probably damaging	1.00
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
R9010:Nusap1	UTSW	2	119648975	missense	possibly damaging	0.91
R9312:Nusap1	UTSW	2	119627638	small deletion	probably benign
R9556:Nusap1	UTSW	2	119648963	missense	not run
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

Posted On

2017-12-01