Mutagenetix > Incidental Mutation

Incidental Mutation 'R5818:Nusap1'

449142

Institutional Source

Beutler Lab

Gene Symbol

Nusap1

Ensembl Gene

ENSMUSG00000027306

Gene Name

nucleolar and spindle associated protein 1

Synonyms

2610201A12Rik, NuSAP

MMRRC Submission

043398-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5818 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

119618298-119651244 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 119635513 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 205 (M205L)

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: M172L

PolyPhen 2 Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: M172L

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: M205L

PolyPhen 2 Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: M205L

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: ENSMUST00000153036

Meta Mutation Damage Score

0.2867

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (64/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,219,643	V560D	probably damaging	Het
Actn4	A	G	7: 28,919,019	I72T	probably damaging	Het
Adam33	A	T	2: 131,054,358	C440S	possibly damaging	Het
Bace1	T	C	9: 45,859,049	I361T	possibly damaging	Het
Bend6	T	C	1: 33,883,573		probably benign	Het
Bpifb9a	T	G	2: 154,262,295	N219K	probably damaging	Het
Cacna1g	C	A	11: 94,418,120	K1634N	probably damaging	Het
Ccdc155	C	T	7: 45,193,959		probably null	Het
Cdk18	A	G	1: 132,119,098		probably null	Het
Chrng	G	A	1: 87,209,801	V320I	probably benign	Het
Corin	G	T	5: 72,435,395	H87N	probably benign	Het
Cps1	A	T	1: 67,166,488	I557F	possibly damaging	Het
Cyp4a29	T	C	4: 115,247,032	V99A	possibly damaging	Het
Dach1	T	C	14: 98,168,684	D209G	probably damaging	Het
Dgat1	G	A	15: 76,502,207		probably benign	Het
Fbxw26	G	T	9: 109,732,566	R187S	probably benign	Het
Gabrd	G	A	4: 155,388,361	P122S	probably damaging	Het
Gm11677	C	T	11: 111,724,711		noncoding transcript	Het
Gm8300	T	G	12: 87,517,060	V55G	possibly damaging	Het
Hif1a	A	G	12: 73,939,564	Q343R	possibly damaging	Het
Hyou1	G	A	9: 44,388,926		probably null	Het
Igfn1	A	T	1: 135,966,126	I2072K	possibly damaging	Het
Kctd8	C	T	5: 69,296,711	A328T	probably benign	Het
Krt10	A	G	11: 99,388,771	Y188H	probably damaging	Het
Krtap4-16	T	A	11: 99,851,523	Q17L	unknown	Het
Larp4b	T	A	13: 9,158,560	S416R	probably benign	Het
Lmtk2	G	A	5: 144,156,900	V232M	probably benign	Het
Mroh4	A	G	15: 74,611,982	I571T	probably damaging	Het
Myo15	G	A	11: 60,497,951	R2021Q	probably benign	Het
Npl	G	A	1: 153,535,915	R63C	probably damaging	Het
Ntn4	A	G	10: 93,644,764	I80V	probably benign	Het
Numb	C	T	12: 83,825,254		probably null	Het
Olfr149	T	C	9: 39,702,365	S135G	probably benign	Het
Onecut2	T	A	18: 64,340,975	M180K	possibly damaging	Het
Pmfbp1	T	C	8: 109,538,679		probably null	Het
Ppfia1	T	C	7: 144,520,568		probably benign	Het
Ppm1b	A	G	17: 84,993,719	K9R	probably benign	Het
Rab11fip3	T	C	17: 26,016,116	S608G	probably damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261		probably benign	Het
Sohlh2	A	G	3: 55,190,501	T125A	probably damaging	Het
Ssfa2	T	A	2: 79,644,593	S299T	probably damaging	Het
Tet1	C	A	10: 62,816,408	M1610I	possibly damaging	Het
Tgfbr3	A	T	5: 107,133,003	D630E	probably benign	Het
Thnsl2	T	C	6: 71,134,143	D247G	probably benign	Het
Tmem198b	G	A	10: 128,802,188	R169W	probably benign	Het
Tmem201	G	A	4: 149,727,392	A332V	probably benign	Het
Tsku	T	C	7: 98,352,098	D342G	possibly damaging	Het
Ucn2	A	T	9: 108,986,497	H109L	probably benign	Het
Virma	T	G	4: 11,513,319	L391R	possibly damaging	Het
Vmn1r60	T	A	7: 5,545,099	M1L	probably benign	Het
Vmn2r76	T	C	7: 86,229,934	H386R	probably benign	Het
Zfp608	C	T	18: 54,895,396	R1315Q	probably benign	Het
Zmym2	A	G	14: 56,946,529	T983A	probably benign	Het
Zscan26	A	G	13: 21,445,761	S65P	probably benign	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
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

PCR Primer
(F):5'- GGGAAGATTAAAACGGACTTTTAGC -3'
(R):5'- AACCTGACTCTCATCTCCATGG -3'

Sequencing Primer
(F):5'- CTGGAACTCACTTTGTAGACCAGG -3'
(R):5'- GAACCAGGCAGGTACATAT -3'

Posted On

2016-12-20