Incidental Mutation 'R5754:Nusap1'
| ID |
444935 |
| 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 # |
R5754 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119449205-119480646 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119477580 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 363
(K363R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028771]
[ENSMUST00000068225]
|
| AlphaFold |
Q9ERH4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000028771
AA Change: K330R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: K330R
| 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: K363R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: K363R
| 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 |
|
| Meta Mutation Damage Score |
0.4350 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.8%
|
| Validation Efficiency |
98% (61/62) |
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb4 |
T |
A |
5: 8,984,320 (GRCm39) |
N683K |
probably benign |
Het |
| Atad2b |
T |
A |
12: 5,060,351 (GRCm39) |
H915Q |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,160,367 (GRCm39) |
S609P |
probably damaging |
Het |
| Camk1d |
G |
T |
2: 5,449,908 (GRCm39) |
P91Q |
probably benign |
Het |
| Camk1d |
G |
C |
2: 5,449,910 (GRCm39) |
S90R |
probably damaging |
Het |
| Card11 |
T |
C |
5: 140,885,524 (GRCm39) |
E345G |
probably damaging |
Het |
| Ccpg1 |
G |
T |
9: 72,920,526 (GRCm39) |
V714L |
possibly damaging |
Het |
| Chst9 |
T |
C |
18: 15,586,254 (GRCm39) |
E103G |
possibly damaging |
Het |
| Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
| Crb1 |
T |
C |
1: 139,159,337 (GRCm39) |
Y1295C |
probably damaging |
Het |
| Dnah5 |
A |
G |
15: 28,402,014 (GRCm39) |
T3392A |
probably benign |
Het |
| Elp3 |
C |
A |
14: 65,785,439 (GRCm39) |
R473L |
probably damaging |
Het |
| Epgn |
T |
A |
5: 91,181,807 (GRCm39) |
I145N |
probably benign |
Het |
| Fam107b |
G |
A |
2: 3,779,457 (GRCm39) |
G220D |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,257,383 (GRCm39) |
V328A |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,639,481 (GRCm39) |
I1770N |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,988,585 (GRCm39) |
Y1159F |
unknown |
Het |
| Frem2 |
A |
G |
3: 53,444,679 (GRCm39) |
L2484P |
probably damaging |
Het |
| Grk2 |
C |
T |
19: 4,340,496 (GRCm39) |
R295H |
probably damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,243,237 (GRCm39) |
V1789D |
possibly damaging |
Het |
| Hmgcl |
T |
C |
4: 135,677,898 (GRCm39) |
V33A |
probably damaging |
Het |
| Ighv7-1 |
A |
G |
12: 113,860,239 (GRCm39) |
F51S |
probably damaging |
Het |
| Kcna6 |
A |
G |
6: 126,716,688 (GRCm39) |
L67P |
probably damaging |
Het |
| Lamc1 |
A |
T |
1: 153,123,030 (GRCm39) |
V720E |
probably benign |
Het |
| Lrch1 |
T |
C |
14: 75,054,558 (GRCm39) |
D312G |
probably damaging |
Het |
| Mix23 |
A |
G |
16: 35,905,427 (GRCm39) |
N63S |
probably benign |
Het |
| Nav2 |
A |
G |
7: 49,206,794 (GRCm39) |
T1540A |
probably damaging |
Het |
| Nisch |
A |
T |
14: 30,913,373 (GRCm39) |
|
probably benign |
Het |
| Nos1ap |
T |
A |
1: 170,176,968 (GRCm39) |
K145M |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,177,839 (GRCm39) |
Y524H |
probably damaging |
Het |
| Nrap |
T |
C |
19: 56,377,916 (GRCm39) |
T25A |
possibly damaging |
Het |
| Or5ar1 |
T |
C |
2: 85,671,656 (GRCm39) |
T160A |
probably damaging |
Het |
| Or5b124 |
A |
G |
19: 13,611,357 (GRCm39) |
E294G |
probably damaging |
Het |
| Or7e177 |
T |
A |
9: 20,212,390 (GRCm39) |
L298Q |
probably damaging |
Het |
| Pde4d |
T |
C |
13: 110,074,547 (GRCm39) |
I384T |
probably damaging |
Het |
| Pkhd1 |
T |
A |
1: 20,593,875 (GRCm39) |
R1413* |
probably null |
Het |
| Plcd3 |
T |
A |
11: 102,964,592 (GRCm39) |
Y593F |
possibly damaging |
Het |
| Plxna1 |
A |
T |
6: 89,310,087 (GRCm39) |
I1026N |
possibly damaging |
Het |
| Podxl |
T |
A |
6: 31,501,329 (GRCm39) |
I409F |
probably damaging |
Het |
| Polq |
A |
C |
16: 36,837,625 (GRCm39) |
Q179P |
probably benign |
Het |
| Pomt1 |
T |
C |
2: 32,137,602 (GRCm39) |
V401A |
probably damaging |
Het |
| Qdpr |
C |
T |
5: 45,596,727 (GRCm39) |
G146S |
probably damaging |
Het |
| Shc4 |
T |
A |
2: 125,512,218 (GRCm39) |
Q2L |
probably damaging |
Het |
| Skint8 |
T |
A |
4: 111,807,387 (GRCm39) |
C358S |
probably benign |
Het |
| Smc5 |
T |
C |
19: 23,221,467 (GRCm39) |
E354G |
possibly damaging |
Het |
| Snx30 |
T |
C |
4: 59,868,275 (GRCm39) |
V129A |
probably damaging |
Het |
| Sp110 |
G |
C |
1: 85,504,923 (GRCm39) |
|
probably benign |
Het |
| Spag6 |
T |
A |
2: 18,703,613 (GRCm39) |
|
probably benign |
Het |
| Trim28 |
T |
A |
7: 12,763,036 (GRCm39) |
Y450N |
probably benign |
Het |
| Trip11 |
C |
T |
12: 101,851,924 (GRCm39) |
W428* |
probably null |
Het |
| Umodl1 |
T |
A |
17: 31,213,761 (GRCm39) |
V966E |
probably damaging |
Het |
| Utf1 |
A |
G |
7: 139,524,704 (GRCm39) |
|
probably benign |
Het |
| Vmn1r72 |
T |
C |
7: 11,403,776 (GRCm39) |
Y224C |
probably damaging |
Het |
| Whrn |
A |
G |
4: 63,334,825 (GRCm39) |
S748P |
probably damaging |
Het |
| Zbtb41 |
T |
A |
1: 139,359,816 (GRCm39) |
|
probably null |
Het |
| Zfhx3 |
T |
C |
8: 109,526,964 (GRCm39) |
F954L |
probably damaging |
Het |
| Zfp456 |
A |
T |
13: 67,514,359 (GRCm39) |
I449K |
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 |
|
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'- TAACTAACACGGGGTTGGC -3'
(R):5'- AACCGAGCTTTCATATTCCACC -3'
Sequencing Primer
(F):5'- ATCAAGACTCACTGCAGG -3'
(R):5'- ACCCCTCGCATGCTCTGG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation