Incidental Mutation 'RF036:Nusap1'
| ID |
604567 |
| 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 # |
RF036 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119449205-119480646 bp(+) (GRCm39) |
| Type of Mutation |
small insertion (10 aa in frame mutation) |
| DNA Base Change (assembly) |
TTAGCAGTGAGGAGCA to TTAGCAGTGAGGAGCACGCTGAGATACACGCTAGCAGTGAGGAGCA
at 119458068 bp (GRCm39)
|
| 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: 99.3%
- 20x: 98.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
T |
TCCCTG |
17: 24,506,701 (GRCm39) |
|
probably benign |
Het |
| Acap3 |
G |
GGGCTGCATCCTGGGC |
4: 155,989,544 (GRCm39) |
|
probably benign |
Het |
| Adgra3 |
GGCCGC |
GGC |
5: 50,215,983 (GRCm39) |
|
probably benign |
Het |
| Blm |
CCTCCTCCTCCT |
CCTCCTCCTCCTACTCCTCCTCCT |
7: 80,162,662 (GRCm39) |
|
probably null |
Het |
| Calhm1 |
C |
CTGTGGCTGTGGG |
19: 47,129,716 (GRCm39) |
|
probably benign |
Het |
| Cdx1 |
CTGCTG |
CTGCTGTTGCTG |
18: 61,152,942 (GRCm39) |
|
probably benign |
Het |
| Cherp |
ACCTGGACC |
AC |
8: 73,215,888 (GRCm39) |
|
probably null |
Het |
| Cherp |
TGGACC |
T |
8: 73,215,891 (GRCm39) |
|
probably null |
Het |
| Cyb5r4 |
CAGACACACTGCC |
CAGACACACTGCCTAGGGATGTGATAGACACACTGCC |
9: 86,922,483 (GRCm39) |
|
probably benign |
Het |
| Dcdc2b |
GCTGC |
GCTGCCAGGCCTGC |
4: 129,503,444 (GRCm39) |
|
probably benign |
Het |
| Fam171b |
GCAGC |
GCAGCAACAGC |
2: 83,643,236 (GRCm39) |
|
probably benign |
Het |
| Foxd3 |
GGACCCTACGGCCG |
GG |
4: 99,545,633 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
TTTT |
TTTTTCTTT |
2: 82,814,707 (GRCm39) |
|
probably benign |
Het |
| Gm8369 |
GTGTGT |
GTGTGTATGTGT |
19: 11,489,142 (GRCm39) |
|
probably benign |
Het |
| Il2 |
GTGG |
GTGGGGCTTGAATTGG |
3: 37,179,976 (GRCm39) |
|
probably benign |
Het |
| Iqcf4 |
TCCTTTTCCTTTT |
TCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTGCCTTTTCCTTTT |
9: 106,447,810 (GRCm39) |
|
probably benign |
Het |
| Ivl |
TGCTGCTGCTGCTGC |
T |
3: 92,479,648 (GRCm39) |
|
probably null |
Het |
| Kif12 |
C |
CCTCCACCCGGCGGGT |
4: 63,089,664 (GRCm39) |
|
probably benign |
Het |
| Lkaaear1 |
CCAGCTCCAGCT |
CCAGCTCCAGCTACAGCTCCAGCT |
2: 181,339,381 (GRCm39) |
|
probably benign |
Het |
| Lrtm1 |
TAGCCTCAGTGGCC |
T |
14: 28,743,400 (GRCm39) |
|
probably null |
Het |
| Mamld1 |
CAG |
CAGAAG |
X: 70,162,446 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
CAG |
CAGGAG |
X: 70,162,434 (GRCm39) |
|
probably benign |
Het |
| Mamld1 |
AGC |
AGCCGC |
X: 70,162,441 (GRCm39) |
|
probably benign |
Het |
| Morn4 |
GTGAG |
GTGAGTCAGGCAATGAG |
19: 42,064,553 (GRCm39) |
|
probably null |
Het |
| Nefh |
GGGAC |
GGGACGTGGCATCACCTGTGGAC |
11: 4,891,048 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
TGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,010 (GRCm39) |
|
probably benign |
Het |
| Nefh |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
CTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC |
11: 4,891,016 (GRCm39) |
|
probably benign |
Het |
| Nefh |
TGGCCTC |
TGGCCTCGCCTGGGGACTGGGCCTC |
11: 4,891,036 (GRCm39) |
|
probably benign |
Het |
| Or10j2 |
GTGACATC |
G |
1: 173,098,276 (GRCm39) |
|
probably null |
Het |
| Phc1 |
CTTGCTG |
CTTGCTGTTGCTG |
6: 122,300,539 (GRCm39) |
|
probably benign |
Het |
| Rassf6 |
TCATGGTCCTGTAGAGCAATGGGGATTC |
TCATGGTCCTGTAGAGCAATGGGGATTCTGCCTCACGCATGGTCCTGTAGAGCAATGGGGATTC |
5: 90,756,774 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
TCTCTCTCTC |
TCTCTCTCTCTCTCTCACTCTCTCTC |
12: 26,364,007 (GRCm39) |
|
probably benign |
Het |
| Rnf144a |
CTCTC |
CTCTCTCTCTCTCTCTATCTC |
12: 26,364,012 (GRCm39) |
|
probably benign |
Het |
| Rpgrip1 |
AGAGGAAG |
A |
14: 52,386,998 (GRCm39) |
|
probably null |
Het |
| Rsf1 |
CG |
CGATG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Setd1a |
GTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
GTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGG |
7: 127,384,472 (GRCm39) |
|
probably benign |
Het |
| Spmap2l |
G |
GCGATCCTCCCCAGTCCCGCAAGGCCAT |
5: 77,164,276 (GRCm39) |
|
probably benign |
Het |
| Stat1 |
G |
T |
1: 52,191,419 (GRCm39) |
E591D |
probably benign |
Het |
| Strn |
CTTACCCCAGTC |
CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCATTACCCCAGTC |
17: 78,984,706 (GRCm39) |
|
probably null |
Het |
| Tcof1 |
CT |
CTAGT |
18: 60,961,480 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
AGC |
AGCGGC |
18: 60,968,808 (GRCm39) |
|
probably benign |
Het |
| Tfeb |
GCA |
GCACCA |
17: 48,097,028 (GRCm39) |
|
probably benign |
Het |
| Tomm5 |
GCATCTTCC |
GCATCTTCCACATCTTCC |
4: 45,107,973 (GRCm39) |
|
probably benign |
Het |
| Trappc9 |
GCTGCTGCTGCT |
GCTGCTGCTGCTGCTTCTGCTGCTGCT |
15: 72,673,169 (GRCm39) |
|
probably benign |
Het |
| Ubtf |
CTTC |
CTTCTTC |
11: 102,197,771 (GRCm39) |
|
probably benign |
Het |
| Usp2 |
ACTTAC |
ACTTACTCATGTGACCCGTTCTTCCCTTAC |
9: 44,000,421 (GRCm39) |
|
probably benign |
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 |
|
R7947:Nusap1
|
UTSW |
2 |
119,477,616 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
119,458,059 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Nusap1
|
UTSW |
2 |
119,458,072 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Nusap1
|
UTSW |
2 |
119,458,086 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Nusap1
|
UTSW |
2 |
119,458,075 (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 |
|
|
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'- TCGGACCATCCTGTGTTCATAC -3'
(R):5'- CCAGTCATCTAGCATCATGAAGG -3'
Sequencing Primer
(F):5'- GGACCATCCTGTGTTCATACTGTAAC -3'
(R):5'- CACTAAAAGTGTGCCAGTTATGG -3'
|
| Posted On |
2019-12-04 |
Incidental Mutation