Incidental Mutation 'IGL02732:Nusap1'
| ID |
305517 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02732
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
119449205-119480646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119466061 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 227
(E227G)
|
| 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: E194G
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: E194G
| 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 damaging
Transcript: ENSMUST00000068225
AA Change: E227G
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: E227G
| 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
|
| Coding Region Coverage |
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apoo-ps |
C |
A |
13: 107,551,123 (GRCm39) |
|
noncoding transcript |
Het |
| Ash1l |
T |
A |
3: 88,873,535 (GRCm39) |
V106E |
probably damaging |
Het |
| Baz2a |
A |
G |
10: 127,961,044 (GRCm39) |
T1618A |
possibly damaging |
Het |
| Brca1 |
A |
G |
11: 101,383,045 (GRCm39) |
S1732P |
probably benign |
Het |
| Cdh1 |
T |
A |
8: 107,392,955 (GRCm39) |
I813N |
probably damaging |
Het |
| Cdk5rap2 |
G |
A |
4: 70,184,902 (GRCm39) |
R1183* |
probably null |
Het |
| Cep170 |
C |
T |
1: 176,564,440 (GRCm39) |
E1479K |
probably damaging |
Het |
| Cep68 |
A |
T |
11: 20,186,109 (GRCm39) |
|
probably benign |
Het |
| Cog7 |
C |
T |
7: 121,522,590 (GRCm39) |
V750I |
probably benign |
Het |
| Cplane1 |
A |
G |
15: 8,209,375 (GRCm39) |
T271A |
probably benign |
Het |
| Cyb5d1 |
A |
C |
11: 69,284,635 (GRCm39) |
|
probably null |
Het |
| Dlgap4 |
A |
G |
2: 156,591,243 (GRCm39) |
K120E |
probably benign |
Het |
| Dmtf1 |
T |
C |
5: 9,186,098 (GRCm39) |
I75V |
possibly damaging |
Het |
| Fnip2 |
T |
C |
3: 79,373,004 (GRCm39) |
T995A |
probably damaging |
Het |
| Hecw2 |
G |
A |
1: 53,965,847 (GRCm39) |
|
probably benign |
Het |
| Il17rd |
T |
A |
14: 26,809,376 (GRCm39) |
F111I |
probably damaging |
Het |
| Itgb8 |
A |
C |
12: 119,127,088 (GRCm39) |
M722R |
probably benign |
Het |
| Maip1 |
A |
G |
1: 57,449,114 (GRCm39) |
D165G |
probably damaging |
Het |
| Mcm6 |
A |
T |
1: 128,287,227 (GRCm39) |
C26S |
probably benign |
Het |
| Mdp1 |
T |
C |
14: 55,896,678 (GRCm39) |
I128V |
possibly damaging |
Het |
| Myof |
A |
T |
19: 37,966,164 (GRCm39) |
F385L |
possibly damaging |
Het |
| Nebl |
C |
T |
2: 17,457,295 (GRCm39) |
|
probably benign |
Het |
| Or4b13 |
A |
G |
2: 90,082,652 (GRCm39) |
S227P |
probably damaging |
Het |
| Or51m1 |
T |
G |
7: 103,578,336 (GRCm39) |
M102R |
probably damaging |
Het |
| Or52e3 |
A |
C |
7: 102,869,447 (GRCm39) |
N174T |
probably benign |
Het |
| Pamr1 |
A |
T |
2: 102,472,486 (GRCm39) |
H595L |
probably benign |
Het |
| Pate5 |
C |
T |
9: 35,750,345 (GRCm39) |
G109D |
probably damaging |
Het |
| Pdgfc |
G |
A |
3: 80,944,864 (GRCm39) |
|
probably benign |
Het |
| Pierce1 |
T |
C |
2: 28,355,192 (GRCm39) |
N91S |
probably damaging |
Het |
| Ptpn22 |
A |
T |
3: 103,793,349 (GRCm39) |
E500V |
probably damaging |
Het |
| Ptprg |
G |
T |
14: 12,225,617 (GRCm38) |
|
probably null |
Het |
| R3hdm2 |
T |
C |
10: 127,319,929 (GRCm39) |
F513L |
probably benign |
Het |
| Ramac |
T |
C |
7: 81,417,473 (GRCm39) |
|
probably null |
Het |
| Rhobtb3 |
C |
A |
13: 76,059,056 (GRCm39) |
L247F |
probably damaging |
Het |
| Scfd1 |
T |
C |
12: 51,469,756 (GRCm39) |
S434P |
probably benign |
Het |
| Serpinb3d |
T |
A |
1: 107,010,526 (GRCm39) |
|
probably null |
Het |
| Sin3b |
T |
C |
8: 73,460,081 (GRCm39) |
F223L |
possibly damaging |
Het |
| Slc9c1 |
T |
C |
16: 45,370,548 (GRCm39) |
V263A |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,655,596 (GRCm39) |
S207P |
possibly damaging |
Het |
| Sqor |
A |
T |
2: 122,641,682 (GRCm39) |
T1S |
possibly damaging |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Ssh2 |
A |
G |
11: 77,328,602 (GRCm39) |
|
probably null |
Het |
| Tasor2 |
A |
G |
13: 3,623,626 (GRCm39) |
V2108A |
probably benign |
Het |
| Tmod2 |
A |
G |
9: 75,493,454 (GRCm39) |
V167A |
possibly damaging |
Het |
| Trak2 |
G |
A |
1: 58,949,222 (GRCm39) |
T526M |
probably benign |
Het |
| Trdn |
G |
A |
10: 33,344,195 (GRCm39) |
|
probably null |
Het |
| Trim5 |
T |
A |
7: 103,927,672 (GRCm39) |
E156V |
probably benign |
Het |
| Twf1 |
A |
G |
15: 94,478,890 (GRCm39) |
S273P |
probably damaging |
Het |
| Xylt1 |
T |
C |
7: 117,191,164 (GRCm39) |
V320A |
possibly damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
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 |
|
|
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 |
119,458,072 (GRCm39) |
small insertion |
probably benign |
|
|
RF028:Nusap1
|
UTSW |
2 |
119,458,059 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Nusap1
|
UTSW |
2 |
119,458,075 (GRCm39) |
small insertion |
probably benign |
|
|
RF029:Nusap1
|
UTSW |
2 |
119,458,086 (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 |
|
|
RF036:Nusap1
|
UTSW |
2 |
119,458,068 (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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation