Incidental Mutation 'RF062:Nusap1'
ID |
605432 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nusap1
|
Ensembl Gene |
ENSMUSG00000027306 |
Gene Name |
nucleolar and spindle associated protein 1 |
Synonyms |
2610201A12Rik, NuSAP |
Accession Numbers |
|
Is this an essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
RF062 (G1)
|
Quality Score |
217.468 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
119618298-119651244 bp(+) (GRCm38) |
Type of Mutation |
small insertion (10 aa in frame mutation) |
DNA Base Change (assembly) |
A to ATACACGTTAGCAGTGAGGAGCAAGCTGAGG
at 119627610 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000068713
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028771]
[ENSMUST00000068225]
|
AlphaFold |
Q9ERH4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000028771
|
SMART Domains |
Protein: ENSMUSP00000028771 Gene: ENSMUSG00000027306
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 benign
Transcript: ENSMUST00000068225
|
SMART Domains |
Protein: ENSMUSP00000068713 Gene: ENSMUSG00000027306
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 |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 99.3%
- 20x: 98.6%
|
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: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anapc2 |
GTGGCGGCGGCGGC |
G |
2: 25,272,537 |
|
probably null |
Het |
Ankhd1 |
GGCGGC |
GGCGGCAGCGGC |
18: 36,560,918 |
|
probably benign |
Het |
Cckbr |
CAG |
C |
7: 105,434,687 |
|
probably null |
Het |
Defb22 |
TGGCCT |
TGGCCTCTGCGGCAGAGCCGGCCT |
2: 152,485,825 |
|
probably benign |
Het |
Dmkn |
GGTGGAAGTGGTGGAAGTGGTGGAAGT |
GGTGGAAGTGGTGGAAGTGGTGGAAGTCGTGGAAGTGGTGGAAGTGGTGGAAGT |
7: 30,767,175 |
|
probably benign |
Het |
Efhd2 |
GCCGCC |
GCCGCCTCCGCC |
4: 141,874,755 |
|
probably benign |
Het |
Efhd2 |
CC |
CCGCCGAC |
4: 141,874,774 |
|
probably benign |
Het |
Fsip2 |
TTTT |
TTTTGTTT |
2: 82,984,363 |
|
probably benign |
Het |
Gm11060 |
CTGTGTG |
CTG |
2: 105,092,040 |
|
probably null |
Het |
Gm5591 |
GC |
G |
7: 38,522,335 |
|
probably null |
Het |
Krt10 |
CGCC |
CGCCGCC |
11: 99,386,199 |
|
probably benign |
Het |
Krt10 |
ACCACCGCC |
ACCACCGCCACCGCC |
11: 99,389,264 |
|
probably benign |
Het |
Nefh |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGGGACTTGGCCTCACCGGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,941,028 |
|
probably benign |
Het |
Rfx4 |
CTCTCTCTCTCTCT |
CTCTCTCTCTCTCTCTATCTCTCTCTCTCT |
10: 84,858,481 |
|
probably benign |
Het |
St5 |
GGGCAGCCCTCACTGA |
G |
7: 109,556,946 |
|
probably benign |
Het |
Tfeb |
GCA |
GCATCA |
17: 47,786,100 |
|
probably benign |
Het |
Tnfaip8 |
ACACACACACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
AC |
18: 50,046,831 |
|
probably benign |
Het |
Zfp384 |
CCCAGGCCCAGGCCCAGGCCCAGG |
CCCAGGCCCAGGACCAGGCCCAGGCCCAGGCCCAGG |
6: 125,036,466 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ATTGCAAGTGCTAGTTCGTTATCTG -3'
(R):5'- TCTACTTCTGAGGAGCCTGC -3'
Sequencing Primer
(F):5'- AGTTCGTTATCTGTGACAAGTTCC -3'
(R):5'- TACTTCTGAGGAGCCTGCAGAAC -3'
|
Posted On |
2019-12-04 |