Incidental Mutation 'RF041:Nusap1'
| ID |
604804 |
| 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 # |
RF041 (G1)
|
| Quality Score |
194.468 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119618298-119651244 bp(+) (GRCm38) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
GAGA to GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA
at 119627607 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 null
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 null
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: 99.4%
- 20x: 98.7%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
TGAGGA |
TGA |
12: 72,881,276 (GRCm38) |
|
probably benign |
Het |
| 5430401F13Rik |
CCAGCAAAAACAGAAAGGAAAAGG |
CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG |
6: 131,552,873 (GRCm38) |
|
probably benign |
Het |
| 5430401F13Rik |
AGGTGGCCAG |
AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG |
6: 131,552,894 (GRCm38) |
|
probably benign |
Het |
| 5430401F13Rik |
AAAGGTGGC |
AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC |
6: 131,552,892 (GRCm38) |
|
probably benign |
Het |
| Abcf1 |
CTCTTC |
CTC |
17: 35,963,201 (GRCm38) |
|
probably benign |
Het |
| Acap3 |
GGCTGC |
GGCTGCGGCATCCTGTGCTGC |
4: 155,905,100 (GRCm38) |
|
probably benign |
Het |
| AI837181 |
GGC |
GGCTGC |
19: 5,425,229 (GRCm38) |
|
probably benign |
Het |
| Arid1b |
CGG |
CGGTGG |
17: 4,995,595 (GRCm38) |
|
probably benign |
Het |
| AY761185 |
CACTGTGGG |
C |
8: 20,943,912 (GRCm38) |
|
probably null |
Het |
| Btnl1 |
C |
T |
17: 34,381,368 (GRCm38) |
T246M |
probably benign |
Het |
| Cdc40 |
C |
T |
10: 40,843,123 (GRCm38) |
D337N |
probably damaging |
Het |
| Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 104,309,470 (GRCm38) |
|
probably benign |
Het |
| Cul9 |
CCT |
CCTACT |
17: 46,500,854 (GRCm38) |
|
probably null |
Het |
| Defb22 |
GCTGGCCTTTGC |
GCTGGCCTTTGCCGCAGACCTGGCCTTTGC |
2: 152,485,823 (GRCm38) |
|
probably benign |
Het |
| Dmkn |
GGGGTGGAAG |
GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG |
7: 30,767,173 (GRCm38) |
|
probably benign |
Het |
| Flywch1 |
CTCACCCACTCCTGGTGT |
CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT |
17: 23,762,161 (GRCm38) |
|
probably null |
Het |
| Flywch1 |
GT |
GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT |
17: 23,762,177 (GRCm38) |
|
probably null |
Het |
| Gabre |
CTCCGG |
CTCCGGATCCGG |
X: 72,270,049 (GRCm38) |
|
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,511,758 (GRCm38) |
|
probably benign |
Het |
| Gykl1 |
G |
A |
18: 52,694,416 (GRCm38) |
R232Q |
probably benign |
Het |
| Il2 |
GG |
GGGCTTGAAGTGCG |
3: 37,125,842 (GRCm38) |
|
probably benign |
Het |
| Iqcf4 |
CTTTTCCTTTT |
CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT |
9: 106,570,613 (GRCm38) |
|
probably null |
Het |
| Kif12 |
GGC |
GGCCTCCACCCGGCGTGC |
4: 63,171,425 (GRCm38) |
|
probably benign |
Het |
| Kmt2c |
TG |
TGTTGCAG |
5: 25,315,775 (GRCm38) |
|
probably benign |
Het |
| Lce1m |
CTGCTGCTGCC |
CTGCTGCTGCCCTTGCTGCTGCC |
3: 93,018,141 (GRCm38) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 71,118,829 (GRCm38) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 71,118,826 (GRCm38) |
|
probably benign |
Het |
| Med12l |
GC |
GCACC |
3: 59,275,995 (GRCm38) |
|
probably benign |
Het |
| Med12l |
AGC |
AGCTGC |
3: 59,275,985 (GRCm38) |
|
probably benign |
Het |
| Nefh |
CCTCACCTGGGG |
CCTCACCTGGGGCCTTGGGCTCACCTGGGG |
11: 4,941,039 (GRCm38) |
|
probably benign |
Het |
| Nf2 |
AAAAG |
A |
11: 4,829,936 (GRCm38) |
|
probably null |
Het |
| Ngfr |
CAGG |
C |
11: 95,587,511 (GRCm38) |
|
probably benign |
Het |
| Phc1 |
TG |
TGCTGCGG |
6: 122,323,600 (GRCm38) |
|
probably benign |
Het |
| Pnmal1 |
CAACATC |
CAACATCTCATGATGCACCTGCTTAAACATC |
7: 16,961,444 (GRCm38) |
|
probably null |
Het |
| Ptprb |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT |
10: 116,283,677 (GRCm38) |
|
probably benign |
Het |
| Setd1a |
GGTGGTGGT |
GGTGGTGGTCGTGGTGGT |
7: 127,785,332 (GRCm38) |
|
probably benign |
Het |
| Sfr1 |
ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC |
ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC |
19: 47,732,868 (GRCm38) |
|
probably benign |
Het |
| Slc39a4 |
TGTGGTC |
TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC |
15: 76,614,866 (GRCm38) |
|
probably benign |
Het |
| Smarca2 |
AGC |
AGCCCCTGC |
19: 26,631,021 (GRCm38) |
|
probably benign |
Het |
| Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,656,691 (GRCm38) |
|
probably benign |
Het |
| Tcof1 |
AGATCCCCTTGGC |
AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC |
18: 60,833,572 (GRCm38) |
|
probably benign |
Het |
| Tcof1 |
CCCCTTG |
CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG |
18: 60,833,576 (GRCm38) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCATCA |
17: 47,786,100 (GRCm38) |
|
probably benign |
Het |
| Tmem59 |
T |
TGTTTGTTG |
4: 107,190,532 (GRCm38) |
|
probably benign |
Het |
| Tob1 |
CACA |
CACAACA |
11: 94,214,451 (GRCm38) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,306,945 (GRCm38) |
|
probably benign |
Het |
| Unc13b |
AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG |
AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG |
4: 43,177,338 (GRCm38) |
|
probably benign |
Het |
| Usp19 |
GTGTGTGTGTGTGTGTGTGTGTGTGT |
GTGTGTGTGTGTGTGTGTGTGTGTGTGT |
9: 108,493,988 (GRCm38) |
|
unknown |
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 |
119,627,605 (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 |
119,627,593 (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'- TTGCAAGTGCTAGTTCGTTATC -3'
(R):5'- GAGCACAGCAGACATGGATC -3'
Sequencing Primer
(F):5'- AGTTCGTTATCTGTGACAAGTTCC -3'
(R):5'- CAGACATGGATCTCTACTTCTGAGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation