Incidental Mutation 'R3895:Nusap1'
ID |
310482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nusap1
|
Ensembl Gene |
ENSMUSG00000027306 |
Gene Name |
nucleolar and spindle associated protein 1 |
Synonyms |
2610201A12Rik, NuSAP |
MMRRC Submission |
040806-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3895 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
119449205-119480646 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 119458172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Lysine
at position 103
(Q103K)
|
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: Q103K
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000028771 Gene: ENSMUSG00000027306 AA Change: Q103K
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 |
possibly damaging
Transcript: ENSMUST00000068225
AA Change: Q103K
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000068713 Gene: ENSMUSG00000027306 AA Change: Q103K
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: ENSMUST00000125491
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153036
|
Meta Mutation Damage Score |
0.0744 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
96% (45/47) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acoxl |
T |
C |
2: 127,814,445 (GRCm39) |
|
probably benign |
Het |
C6 |
T |
C |
15: 4,837,952 (GRCm39) |
V854A |
probably benign |
Het |
Ccnd1 |
T |
C |
7: 144,491,631 (GRCm39) |
E136G |
probably damaging |
Het |
CK137956 |
A |
T |
4: 127,840,441 (GRCm39) |
F422I |
probably benign |
Het |
Csta1 |
T |
C |
16: 35,951,402 (GRCm39) |
T7A |
probably benign |
Het |
Dock8 |
A |
G |
19: 25,028,865 (GRCm39) |
E23G |
probably benign |
Het |
Fbxo8 |
A |
T |
8: 57,044,556 (GRCm39) |
R286S |
probably damaging |
Het |
Gm12258 |
T |
G |
11: 58,749,375 (GRCm39) |
Y183* |
probably null |
Het |
Gvin-ps6 |
T |
A |
7: 106,022,621 (GRCm39) |
H127L |
probably damaging |
Het |
Hectd3 |
A |
G |
4: 116,853,286 (GRCm39) |
D171G |
probably damaging |
Het |
Hoxd11 |
C |
T |
2: 74,513,136 (GRCm39) |
R134W |
probably damaging |
Het |
Ighg2c |
T |
C |
12: 113,251,278 (GRCm39) |
T246A |
unknown |
Het |
Ints6 |
T |
C |
14: 62,934,060 (GRCm39) |
I816V |
probably damaging |
Het |
Lrp4 |
G |
A |
2: 91,304,294 (GRCm39) |
G158S |
probably damaging |
Het |
Mast1 |
G |
A |
8: 85,662,352 (GRCm39) |
P52L |
probably damaging |
Het |
Med13l |
A |
G |
5: 118,899,388 (GRCm39) |
D2148G |
probably null |
Het |
Med24 |
A |
G |
11: 98,597,214 (GRCm39) |
S889P |
probably benign |
Het |
Mgam |
T |
A |
6: 40,736,054 (GRCm39) |
M851K |
probably damaging |
Het |
Mkln1 |
T |
A |
6: 31,484,602 (GRCm39) |
L710H |
probably damaging |
Het |
Morf4l1 |
A |
T |
9: 89,976,501 (GRCm39) |
F276I |
possibly damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myt1 |
T |
A |
2: 181,461,863 (GRCm39) |
S574R |
probably damaging |
Het |
Nol11 |
C |
A |
11: 107,059,173 (GRCm39) |
V644F |
probably damaging |
Het |
Ovgp1 |
A |
G |
3: 105,893,912 (GRCm39) |
|
probably benign |
Het |
Pcdh9 |
C |
T |
14: 94,124,974 (GRCm39) |
V399M |
probably damaging |
Het |
Plekhh1 |
T |
C |
12: 79,102,006 (GRCm39) |
S359P |
probably benign |
Het |
Prg4 |
G |
C |
1: 150,330,510 (GRCm39) |
|
probably benign |
Het |
Ptpn14 |
C |
T |
1: 189,582,743 (GRCm39) |
A530V |
probably benign |
Het |
Rho |
A |
G |
6: 115,910,863 (GRCm39) |
Y136C |
probably damaging |
Het |
Rps3 |
C |
T |
7: 99,129,103 (GRCm39) |
R173H |
probably benign |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Sall2 |
T |
C |
14: 52,551,504 (GRCm39) |
N564D |
probably damaging |
Het |
Sart3 |
G |
A |
5: 113,890,488 (GRCm39) |
R452* |
probably null |
Het |
Sbf2 |
T |
C |
7: 110,046,298 (GRCm39) |
I300V |
probably damaging |
Het |
Sgo2b |
A |
T |
8: 64,381,767 (GRCm39) |
V355E |
possibly damaging |
Het |
Slc22a5 |
T |
C |
11: 53,756,651 (GRCm39) |
K553R |
possibly damaging |
Het |
Syne1 |
A |
G |
10: 5,355,456 (GRCm39) |
V375A |
probably damaging |
Het |
Trafd1 |
T |
C |
5: 121,516,804 (GRCm39) |
E28G |
probably benign |
Het |
Tsc2 |
T |
C |
17: 24,818,786 (GRCm39) |
K1292R |
probably damaging |
Het |
Twnk |
A |
G |
19: 44,995,890 (GRCm39) |
T108A |
probably damaging |
Het |
Unc13c |
A |
T |
9: 73,840,805 (GRCm39) |
H15Q |
probably benign |
Het |
Vps16 |
T |
C |
2: 130,280,596 (GRCm39) |
S208P |
possibly 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 |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTGCAGGATCTGGCACATACTG -3'
(R):5'- TCATTTCTTCCCGAGTGCTAGG -3'
Sequencing Primer
(F):5'- AGGATCTGGCACATACTGTCTCC -3'
(R):5'- TCTTCCCGAGTGCTAGGATCAG -3'
|
Posted On |
2015-04-17 |