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

045992-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119449205-119480646 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119477616 bp (GRCm39)

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: 88,555,938 (GRCm39)	T51A	probably benign	Het
Abcc8	A	G	7: 45,754,886 (GRCm39)		probably null	Het
Accs	A	T	2: 93,674,602 (GRCm39)	M123K	probably damaging	Het
Ace	G	A	11: 105,863,880 (GRCm39)	G443S	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Arhgap25	T	C	6: 87,440,069 (GRCm39)	D526G	probably benign	Het
Arhgef18	T	C	8: 3,482,775 (GRCm39)	L160P	probably damaging	Het
Arnt	T	G	3: 95,381,837 (GRCm39)		probably null	Het
Art3	A	G	5: 92,540,359 (GRCm39)	N34S	possibly damaging	Het
Avl9	A	T	6: 56,700,526 (GRCm39)	E53D	possibly damaging	Het
AW209491	A	T	13: 14,811,447 (GRCm39)	E100V	probably benign	Het
Axin2	T	C	11: 108,814,529 (GRCm39)	I139T	probably damaging	Het
Birc7	G	T	2: 180,575,103 (GRCm39)	V280L	probably damaging	Het
Bmal1	T	C	7: 112,886,353 (GRCm39)	Y137H	probably damaging	Het
C1ra	A	G	6: 124,494,338 (GRCm39)	N262D	probably benign	Het
Cacna1g	A	G	11: 94,348,001 (GRCm39)	F696L	probably benign	Het
Casp14	T	A	10: 78,550,079 (GRCm39)		probably null	Het
Ciao2a	A	G	9: 66,045,684 (GRCm39)	I151V	probably benign	Het
Crlf1	T	C	8: 70,951,862 (GRCm39)	Y176H	probably damaging	Het
Dnajb4	A	T	3: 151,892,468 (GRCm39)	S122T	probably benign	Het
Dthd1	G	A	5: 62,971,653 (GRCm39)	D159N	possibly damaging	Het
Erich6	A	T	3: 58,528,699 (GRCm39)	I517N	possibly damaging	Het
Fam118b	T	A	9: 35,129,239 (GRCm39)	H343L	probably benign	Het
Fat2	T	A	11: 55,178,560 (GRCm39)	D1500V	probably damaging	Het
Fcgbp	T	C	7: 27,803,595 (GRCm39)		probably null	Het
Fgfrl1	A	G	5: 108,853,142 (GRCm39)	D255G	probably damaging	Het
Gm9611	G	A	14: 42,118,087 (GRCm39)	Q82*	probably null	Het
Ifit3	G	T	19: 34,565,359 (GRCm39)	E302*	probably null	Het
Igkv3-9	G	A	6: 70,565,737 (GRCm39)	C112Y	probably damaging	Het
Ints4	A	G	7: 97,148,792 (GRCm39)	T233A	probably benign	Het
Khnyn	A	T	14: 56,125,059 (GRCm39)	S438C	probably damaging	Het
Kifc1	T	C	17: 34,102,849 (GRCm39)	R192G	probably benign	Het
Kntc1	T	C	5: 123,919,951 (GRCm39)	S98P	unknown	Het
Krt1c	A	T	15: 101,724,769 (GRCm39)	D280E	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Macf1	T	C	4: 123,295,200 (GRCm39)	I5344V	probably damaging	Het
Mcf2l	A	T	8: 13,053,529 (GRCm39)		probably null	Het
Mms22l	A	C	4: 24,505,373 (GRCm39)	H211P	probably damaging	Het
Nipsnap1	A	G	11: 4,839,145 (GRCm39)	R163G	possibly damaging	Het
Or51t4	A	G	7: 102,598,278 (GRCm39)	Y202C	probably damaging	Het
Or52e19b	A	T	7: 103,032,735 (GRCm39)	V158D	possibly damaging	Het
Or8g17	A	G	9: 38,930,747 (GRCm39)	L30P	probably damaging	Het
Phf14	G	A	6: 11,933,306 (GRCm39)	G56D	unknown	Het
Phykpl	G	A	11: 51,477,408 (GRCm39)	V67M	probably damaging	Het
Pigk	A	G	3: 152,453,404 (GRCm39)	D374G	probably benign	Het
Pirb	A	G	7: 3,722,857 (GRCm39)	V45A	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Rb1cc1	T	C	1: 6,318,786 (GRCm39)	V735A	probably damaging	Het
Rcor2	A	G	19: 7,251,225 (GRCm39)	T333A	possibly damaging	Het
Ret	A	G	6: 118,151,305 (GRCm39)	V593A	probably benign	Het
Scgb1b10	A	T	7: 31,800,570 (GRCm39)	D53V	probably damaging	Het
Sec61a2	G	A	2: 5,881,794 (GRCm39)	A212V	probably damaging	Het
Sgpl1	A	T	10: 60,942,121 (GRCm39)	F245I	probably damaging	Het
Sh2d4b	A	C	14: 40,542,723 (GRCm39)	V351G	probably damaging	Het
Shld2	C	T	14: 33,990,436 (GRCm39)	V157I	probably benign	Het
Slc22a1	T	A	17: 12,871,310 (GRCm39)	M484L	probably benign	Het
Slit1	C	G	19: 41,599,247 (GRCm39)	G1066R	probably damaging	Het
Slit1	A	T	19: 41,599,248 (GRCm39)	D1065E	probably benign	Het
Spg11	G	A	2: 121,922,803 (GRCm39)	A882V	probably damaging	Het
Stab2	A	C	10: 86,681,897 (GRCm39)	F2501L	probably benign	Het
Stim2	A	T	5: 54,275,671 (GRCm39)	K607N	probably damaging	Het
Syde1	C	T	10: 78,425,916 (GRCm39)	V84M	probably damaging	Het
Tepsin	A	T	11: 119,985,061 (GRCm39)	N202K	probably benign	Het
Tmem207	T	A	16: 26,335,495 (GRCm39)	I81F	possibly damaging	Het
Tnc	C	A	4: 63,935,580 (GRCm39)	G452V	probably damaging	Het
Tshz1	G	T	18: 84,033,782 (GRCm39)	Q209K	probably damaging	Het
Ttn	A	T	2: 76,773,696 (GRCm39)	N2308K	unknown	Het
Zfp266	A	G	9: 20,410,548 (GRCm39)	I543T	probably benign	Het
Zfp777	G	T	6: 48,001,645 (GRCm39)	P815Q	probably damaging	Het
Zhx3	A	G	2: 160,623,015 (GRCm39)	I384T	probably damaging	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
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	119,458,072 (GRCm39)	small insertion	probably benign
RF028:Nusap1	UTSW	2	119,458,059 (GRCm39)	small insertion	probably benign
RF029:Nusap1	UTSW	2	119,458,075 (GRCm39)	small insertion	probably benign
RF029:Nusap1	UTSW	2	119,458,086 (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	119,458,091 (GRCm39)	small insertion	probably benign
RF062:Nusap1	UTSW	2	119,458,082 (GRCm39)	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