Incidental Mutation 'RF029:Nusap1'
| ID |
604261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nusap1
|
| Ensembl Gene |
ENSMUSG00000027306 |
| Gene Name |
nucleolar and spindle associated protein 1 |
| Synonyms |
2610201A12Rik, NuSAP |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
RF029 (G1)
|
| Quality Score |
190.468 |
|
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) |
CTGAGA to CTGAGATACACGTTAGCAGTGAGGAGCAAGATGAGA
at 119627605 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: 99.7%
- 10x: 99.2%
- 20x: 98.3%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5430401F13Rik |
GGTGGCCAG |
GGTGGCCAGCAAAAACAGAAAGGAAAAAGTGGCCAG |
6: 131,552,895 (GRCm38) |
|
probably benign |
Het |
| Abca17 |
T |
TCCCTC |
17: 24,287,727 (GRCm38) |
|
probably benign |
Het |
| Amot |
GGAGCAGCAA |
G |
X: 145,450,988 (GRCm38) |
|
probably benign |
Het |
| C1s1 |
CCCATGGCTC |
CC |
6: 124,541,351 (GRCm38) |
|
probably null |
Het |
| Cacna1a |
CCA |
CCAACA |
8: 84,638,724 (GRCm38) |
|
probably benign |
Het |
| Ccdc170 |
ACC |
ACCGCC |
10: 4,561,026 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CAGA |
CAGAGACACTGACCAGGGATGTGATAGA |
9: 87,040,430 (GRCm38) |
|
probably benign |
Het |
| Cyb5r4 |
CCAGGGA |
CCAGGGATGTGACAGACACACTGCACAGGGA |
9: 87,040,442 (GRCm38) |
|
probably benign |
Het |
| Defb22 |
GCGGCA |
GCGGCAGAGCTGGCCTTTGCGGCA |
2: 152,485,833 (GRCm38) |
|
probably benign |
Het |
| Dnmt1 |
CGGAGCACAGTTCCTACCTCGTT |
CGGAGCACAGTTCCTACCTCGTTTTGGGGGAGGAGCACAGTTCCTACCTCGTT |
9: 20,910,123 (GRCm38) |
|
probably null |
Het |
| Eed |
C |
A |
7: 89,955,032 (GRCm38) |
A411S |
probably benign |
Het |
| Exd2 |
CCACAGC |
CC |
12: 80,475,946 (GRCm38) |
|
probably null |
Het |
| Fam171b |
GCAGC |
GCAGCATCAGC |
2: 83,812,892 (GRCm38) |
|
probably benign |
Het |
| Fbrsl1 |
GCGTGTGCTGGT |
GCGTGTGCTGGTTCGTGTGCTGGT |
5: 110,378,139 (GRCm38) |
|
probably benign |
Het |
| Fsip2 |
TAGATGTGAAACCCTTAGAGGTAAGATGTGAAACTCTTAGAGGTAAGA |
TAGATGTGAAACTCTTAGAGGTAAGA |
2: 82,994,008 (GRCm38) |
|
probably null |
Het |
| Gabre |
GGCTC |
GGCTCCTGCTC |
X: 72,270,059 (GRCm38) |
|
probably benign |
Het |
| Gm47955 |
G |
GTTGTGGCTT |
1: 82,960,527 (GRCm38) |
|
probably benign |
Het |
| Gm572 |
TGGGGGGGGGGGG |
TGGGGG |
4: 148,671,393 (GRCm38) |
|
probably null |
Het |
| Hic1 |
CGGGGGGGGGG |
CGGGGGGG |
11: 75,169,442 (GRCm38) |
|
probably benign |
Het |
| Ifi208 |
AGATG |
AG |
1: 173,677,696 (GRCm38) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAACTGG |
3: 37,125,827 (GRCm38) |
|
probably benign |
Het |
| Krtap28-10 |
CACAGCCACAGCCAC |
CACAGCCACAGCCACAACAGCCACAGCCAC |
1: 83,042,270 (GRCm38) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,697,588 (GRCm38) |
|
probably benign |
Het |
| Lkaaear1 |
GCTCCAGCTCCAGCTCCAGCTCCA |
GCTCCAGCTCCACCTCCAGCTCCAGCTCCAGCTCCA |
2: 181,697,579 (GRCm38) |
|
probably benign |
Het |
| Lrmp |
TG |
TGAGCACATGG |
6: 145,173,790 (GRCm38) |
|
probably benign |
Het |
| Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 109,624,195 (GRCm38) |
|
probably benign |
Het |
| Pnmal1 |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,961,444 (GRCm38) |
|
probably null |
Het |
| Rasa2 |
CGC |
CGCAGC |
9: 96,631,467 (GRCm38) |
|
probably benign |
Het |
| Rbm12 |
TATTGCGGGACCAGGTATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
TATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCGGGCATTGCGGGACCAGGCATTGCGGGACC |
2: 156,096,095 (GRCm38) |
|
probably benign |
Het |
| Reep1 |
CGCCA |
CGCCAGCCA |
6: 71,707,966 (GRCm38) |
|
probably null |
Het |
| Tcof1 |
CAG |
CAGAAG |
18: 60,835,735 (GRCm38) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,835,745 (GRCm38) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCT |
15: 72,801,323 (GRCm38) |
|
probably benign |
Het |
| Zfhx3 |
CAGCAACAG |
CAGCAACAGAAGCAACAG |
8: 108,956,092 (GRCm38) |
|
probably benign |
Het |
| Znrd1as |
CG |
CCACCACCACCACCCCCCCCAGG |
17: 36,965,071 (GRCm38) |
|
probably benign |
Het |
|
| Other mutations in Nusap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02580:Nusap1
|
APN |
2 |
119,648,890 (GRCm38) |
splice site |
probably benign |
|
|
IGL02582:Nusap1
|
APN |
2 |
119,648,989 (GRCm38) |
makesense |
probably null |
|
|
IGL02732:Nusap1
|
APN |
2 |
119,635,580 (GRCm38) |
missense |
probably damaging |
0.96 |
|
IGL02794:Nusap1
|
APN |
2 |
119,630,386 (GRCm38) |
missense |
possibly damaging |
0.80 |
|
R0635:Nusap1
|
UTSW |
2 |
119,627,667 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2567:Nusap1
|
UTSW |
2 |
119,643,830 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R3162:Nusap1
|
UTSW |
2 |
119,630,404 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3162:Nusap1
|
UTSW |
2 |
119,630,404 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R3895:Nusap1
|
UTSW |
2 |
119,627,691 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
R4296:Nusap1
|
UTSW |
2 |
119,639,648 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5111:Nusap1
|
UTSW |
2 |
119,630,356 (GRCm38) |
nonsense |
probably null |
|
|
R5417:Nusap1
|
UTSW |
2 |
119,647,143 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5754:Nusap1
|
UTSW |
2 |
119,647,099 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5818:Nusap1
|
UTSW |
2 |
119,635,513 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R6176:Nusap1
|
UTSW |
2 |
119,630,421 (GRCm38) |
missense |
probably benign |
0.01 |
|
R7947:Nusap1
|
UTSW |
2 |
119,647,135 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R9010:Nusap1
|
UTSW |
2 |
119,648,975 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9312:Nusap1
|
UTSW |
2 |
119,627,638 (GRCm38) |
small deletion |
probably benign |
|
|
R9556:Nusap1
|
UTSW |
2 |
119,648,963 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
RF003:Nusap1
|
UTSW |
2 |
119,627,603 (GRCm38) |
small insertion |
probably benign |
|
|
RF007:Nusap1
|
UTSW |
2 |
119,627,581 (GRCm38) |
small insertion |
probably benign |
|
|
RF010:Nusap1
|
UTSW |
2 |
119,627,584 (GRCm38) |
small insertion |
probably benign |
|
|
RF016:Nusap1
|
UTSW |
2 |
119,627,601 (GRCm38) |
small insertion |
probably benign |
|
|
RF018:Nusap1
|
UTSW |
2 |
119,627,578 (GRCm38) |
small insertion |
probably benign |
|
|
RF026:Nusap1
|
UTSW |
2 |
119,627,604 (GRCm38) |
small insertion |
probably benign |
|
|
RF026:Nusap1
|
UTSW |
2 |
119,627,590 (GRCm38) |
small insertion |
probably benign |
|
|
RF028:Nusap1
|
UTSW |
2 |
119,627,578 (GRCm38) |
small insertion |
probably benign |
|
|
RF028:Nusap1
|
UTSW |
2 |
119,627,591 (GRCm38) |
small insertion |
probably benign |
|
|
RF029:Nusap1
|
UTSW |
2 |
119,627,594 (GRCm38) |
small insertion |
probably benign |
|
|
RF032:Nusap1
|
UTSW |
2 |
119,627,587 (GRCm38) |
small insertion |
probably benign |
|
|
RF033:Nusap1
|
UTSW |
2 |
119,627,600 (GRCm38) |
small insertion |
probably benign |
|
|
RF035:Nusap1
|
UTSW |
2 |
119,627,579 (GRCm38) |
small insertion |
probably benign |
|
|
RF036:Nusap1
|
UTSW |
2 |
119,627,594 (GRCm38) |
small insertion |
probably benign |
|
|
RF036:Nusap1
|
UTSW |
2 |
119,627,587 (GRCm38) |
small insertion |
probably benign |
|
|
RF037:Nusap1
|
UTSW |
2 |
119,627,589 (GRCm38) |
small insertion |
probably benign |
|
|
RF040:Nusap1
|
UTSW |
2 |
119,627,587 (GRCm38) |
small insertion |
probably benign |
|
|
RF041:Nusap1
|
UTSW |
2 |
119,627,607 (GRCm38) |
nonsense |
probably null |
|
|
RF041:Nusap1
|
UTSW |
2 |
119,627,593 (GRCm38) |
small insertion |
probably benign |
|
|
RF041:Nusap1
|
UTSW |
2 |
119,627,579 (GRCm38) |
small insertion |
probably benign |
|
|
RF042:Nusap1
|
UTSW |
2 |
119,627,607 (GRCm38) |
nonsense |
probably null |
|
|
RF043:Nusap1
|
UTSW |
2 |
119,627,592 (GRCm38) |
small insertion |
probably benign |
|
|
RF045:Nusap1
|
UTSW |
2 |
119,627,610 (GRCm38) |
small insertion |
probably benign |
|
|
RF046:Nusap1
|
UTSW |
2 |
119,627,595 (GRCm38) |
nonsense |
probably null |
|
|
RF048:Nusap1
|
UTSW |
2 |
119,627,599 (GRCm38) |
small insertion |
probably benign |
|
|
RF049:Nusap1
|
UTSW |
2 |
119,627,583 (GRCm38) |
small insertion |
probably benign |
|
|
RF052:Nusap1
|
UTSW |
2 |
119,627,584 (GRCm38) |
small insertion |
probably benign |
|
|
RF056:Nusap1
|
UTSW |
2 |
119,627,591 (GRCm38) |
small insertion |
probably benign |
|
|
RF056:Nusap1
|
UTSW |
2 |
119,627,586 (GRCm38) |
small insertion |
probably benign |
|
|
RF056:Nusap1
|
UTSW |
2 |
119,627,581 (GRCm38) |
small insertion |
probably benign |
|
|
RF062:Nusap1
|
UTSW |
2 |
119,627,610 (GRCm38) |
small insertion |
probably benign |
|
|
RF062:Nusap1
|
UTSW |
2 |
119,627,601 (GRCm38) |
small insertion |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CGGACCATCCTGTGTTCATAC -3'
(R):5'- AGCATGTTTCCAGTCATCTAGC -3'
Sequencing Primer
(F):5'- GGACCATCCTGTGTTCATACTGTAAC -3'
(R):5'- TCCAGTCATCTAGCATCATGAAGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation