Mutagenetix > Incidental Mutation

Incidental Mutation 'R7947:Nusap1'

649380

Institutional Source

Beutler Lab

Gene Symbol

Nusap1

Ensembl Gene

ENSMUSG00000027306

Gene Name

nucleolar and spindle associated protein 1

Synonyms

2610201A12Rik, NuSAP

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119618298-119651244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119647135 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 375 (N375S)

Ref Sequence

ENSEMBL: ENSMUSP00000068713 (fasta)

Gene Model

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

AlphaFold

Q9ERH4

Predicted Effect

probably benign
Transcript: ENSMUST00000028771
AA Change: N342S

PolyPhen 2 Score 0.125 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: N342S

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: N375S

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: N375S

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

Meta Mutation Damage Score

0.0847

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (60/61)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,759,050	T51A	probably benign	Het
Abcc8	A	G	7: 46,105,462		probably null	Het
Accs	A	T	2: 93,844,257	M123K	probably damaging	Het
Ace	G	A	11: 105,973,054	G443S	possibly damaging	Het
Adprhl1	C	T	8: 13,248,682	V83I	probably damaging	Het
Arhgap25	T	C	6: 87,463,087	D526G	probably benign	Het
Arhgef18	T	C	8: 3,432,775	L160P	probably damaging	Het
Arnt	T	G	3: 95,474,526		probably null	Het
Arntl	T	C	7: 113,287,146	Y137H	probably damaging	Het
Art3	A	G	5: 92,392,500	N34S	possibly damaging	Het
Avl9	A	T	6: 56,723,541	E53D	possibly damaging	Het
AW209491	A	T	13: 14,636,862	E100V	probably benign	Het
Axin2	T	C	11: 108,923,703	I139T	probably damaging	Het
Birc7	G	T	2: 180,933,310	V280L	probably damaging	Het
C1ra	A	G	6: 124,517,379	N262D	probably benign	Het
Cacna1g	A	G	11: 94,457,175	F696L	probably benign	Het
Casp14	T	A	10: 78,714,245		probably null	Het
Crlf1	T	C	8: 70,499,212	Y176H	probably damaging	Het
Dnajb4	A	T	3: 152,186,831	S122T	probably benign	Het
Dthd1	G	A	5: 62,814,310	D159N	possibly damaging	Het
Erich6	A	T	3: 58,621,278	I517N	possibly damaging	Het
Fam118b	T	A	9: 35,217,943	H343L	probably benign	Het
Fam35a	C	T	14: 34,268,479	V157I	probably benign	Het
Fam96a	A	G	9: 66,138,402	I151V	probably benign	Het
Fat2	T	A	11: 55,287,734	D1500V	probably damaging	Het
Fcgbp	T	C	7: 28,104,170		probably null	Het
Fgfrl1	A	G	5: 108,705,276	D255G	probably damaging	Het
Gm9611	G	A	14: 42,296,130	Q82*	probably null	Het
Ifit3	G	T	19: 34,587,959	E302*	probably null	Het
Igkv3-9	G	A	6: 70,588,753	C112Y	probably damaging	Het
Ints4	A	G	7: 97,499,585	T233A	probably benign	Het
Khnyn	A	T	14: 55,887,602	S438C	probably damaging	Het
Kifc1	T	C	17: 33,883,875	R192G	probably benign	Het
Kntc1	T	C	5: 123,781,888	S98P	unknown	Het
Krt2	A	T	15: 101,816,334	D280E	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,189,077		probably benign	Het
Macf1	T	C	4: 123,401,407	I5344V	probably damaging	Het
Mcf2l	A	T	8: 13,003,529		probably null	Het
Mms22l	A	C	4: 24,505,373	H211P	probably damaging	Het
Nipsnap1	A	G	11: 4,889,145	R163G	possibly damaging	Het
Olfr146	A	G	9: 39,019,451	L30P	probably damaging	Het
Olfr574	A	G	7: 102,949,071	Y202C	probably damaging	Het
Olfr603	A	T	7: 103,383,528	V158D	possibly damaging	Het
Phf14	G	A	6: 11,933,307	G56D	unknown	Het
Phykpl	G	A	11: 51,586,581	V67M	probably damaging	Het
Pigk	A	G	3: 152,747,767	D374G	probably benign	Het
Pirb	A	G	7: 3,719,858	V45A	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,790,701		probably benign	Het
Rb1cc1	T	C	1: 6,248,562	V735A	probably damaging	Het
Rcor2	A	G	19: 7,273,860	T333A	possibly damaging	Het
Ret	A	G	6: 118,174,344	V593A	probably benign	Het
Scgb1b10	A	T	7: 32,101,145	D53V	probably damaging	Het
Sec61a2	G	A	2: 5,876,983	A212V	probably damaging	Het
Sgpl1	A	T	10: 61,106,342	F245I	probably damaging	Het
Sh2d4b	A	C	14: 40,820,766	V351G	probably damaging	Het
Slc22a1	T	A	17: 12,652,423	M484L	probably benign	Het
Slit1	C	G	19: 41,610,808	G1066R	probably damaging	Het
Slit1	A	T	19: 41,610,809	D1065E	probably benign	Het
Spg11	G	A	2: 122,092,322	A882V	probably damaging	Het
Stab2	A	C	10: 86,846,033	F2501L	probably benign	Het
Stim2	A	T	5: 54,118,329	K607N	probably damaging	Het
Syde1	C	T	10: 78,590,082	V84M	probably damaging	Het
Tepsin	A	T	11: 120,094,235	N202K	probably benign	Het
Tmem207	T	A	16: 26,516,745	I81F	possibly damaging	Het
Tnc	C	A	4: 64,017,343	G452V	probably damaging	Het
Tshz1	G	T	18: 84,015,657	Q209K	probably damaging	Het
Ttn	A	T	2: 76,943,352	N2308K	unknown	Het
Zfp266	A	G	9: 20,499,252	I543T	probably benign	Het
Zfp777	G	T	6: 48,024,711	P815Q	probably damaging	Het
Zhx3	A	G	2: 160,781,095	I384T	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
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
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	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'- AGACTCACTGCAGGATATACATG -3'
(R):5'- CCATCTTGTGACACAGCAGAAG -3'

Sequencing Primer
(F):5'- GAGCTGTGAATGATAGGTTG -3'
(R):5'- CACCTGGGGCTTCTAGAATTGTAAG -3'

Posted On

2020-09-15