Incidental Mutation 'R2567:Nusap1'
| ID |
254529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nusap1
|
| Ensembl Gene |
ENSMUSG00000027306 |
| Gene Name |
nucleolar and spindle associated protein 1 |
| Synonyms |
2610201A12Rik, NuSAP |
| MMRRC Submission |
040426-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2567 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
119618298-119651244 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 119643830 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 336
(S336R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028771]
[ENSMUST00000068225]
|
| AlphaFold |
Q9ERH4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028771
AA Change: S303R
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: S303R
| 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: S336R
PolyPhen 2
Score 0.703 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: S336R
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
A |
G |
3: 59,929,054 (GRCm38) |
|
probably benign |
Het |
| Aebp1 |
A |
G |
11: 5,870,251 (GRCm38) |
D409G |
probably benign |
Het |
| Akap10 |
A |
G |
11: 61,893,349 (GRCm38) |
|
probably benign |
Het |
| Akap6 |
G |
T |
12: 52,938,373 (GRCm38) |
S863I |
probably damaging |
Het |
| Ap1s3 |
T |
C |
1: 79,625,204 (GRCm38) |
K29E |
possibly damaging |
Het |
| Atm |
T |
A |
9: 53,457,470 (GRCm38) |
I2341L |
possibly damaging |
Het |
| Atp12a |
A |
T |
14: 56,386,927 (GRCm38) |
D944V |
probably damaging |
Het |
| Baz2b |
A |
T |
2: 59,913,911 (GRCm38) |
S1417T |
possibly damaging |
Het |
| Cacna1a |
T |
A |
8: 84,549,725 (GRCm38) |
M613K |
probably damaging |
Het |
| Ccdc191 |
A |
C |
16: 43,943,967 (GRCm38) |
|
probably null |
Het |
| Cd209d |
T |
A |
8: 3,876,327 (GRCm38) |
N96I |
probably damaging |
Het |
| Cdh15 |
G |
A |
8: 122,862,024 (GRCm38) |
R279Q |
probably damaging |
Het |
| Cdk4 |
T |
G |
10: 127,064,276 (GRCm38) |
V14G |
probably benign |
Het |
| Chrna10 |
C |
A |
7: 102,112,069 (GRCm38) |
M438I |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,169,532 (GRCm38) |
|
probably null |
Het |
| Cog3 |
A |
G |
14: 75,754,290 (GRCm38) |
V40A |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 81,086,049 (GRCm38) |
H315R |
probably benign |
Het |
| Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,741,236 (GRCm38) |
|
probably null |
Het |
| Cubn |
A |
G |
2: 13,278,356 (GRCm38) |
|
probably null |
Het |
| Cygb |
T |
C |
11: 116,649,866 (GRCm38) |
D98G |
probably damaging |
Het |
| Dmbx1 |
T |
C |
4: 115,920,292 (GRCm38) |
K120E |
probably damaging |
Het |
| Dnah3 |
T |
A |
7: 119,952,697 (GRCm38) |
I2800F |
possibly damaging |
Het |
| Dntt |
G |
T |
19: 41,041,336 (GRCm38) |
R245L |
possibly damaging |
Het |
| Dock1 |
T |
G |
7: 135,145,484 (GRCm38) |
V1508G |
probably damaging |
Het |
| Enpp4 |
A |
C |
17: 44,101,845 (GRCm38) |
I266R |
probably damaging |
Het |
| Fhl4 |
T |
C |
10: 85,098,780 (GRCm38) |
I46V |
possibly damaging |
Het |
| Fn1 |
G |
A |
1: 71,597,736 (GRCm38) |
Q1995* |
probably null |
Het |
| Foxl3 |
A |
G |
5: 138,820,185 (GRCm38) |
S36G |
probably null |
Het |
| Foxo1 |
T |
A |
3: 52,269,334 (GRCm38) |
L178H |
probably damaging |
Het |
| Galnt18 |
C |
T |
7: 111,554,616 (GRCm38) |
R267H |
probably damaging |
Het |
| Gm1110 |
T |
C |
9: 26,920,696 (GRCm38) |
D53G |
probably benign |
Het |
| Gm7104 |
A |
T |
12: 88,285,472 (GRCm38) |
|
noncoding transcript |
Het |
| H2-M11 |
C |
T |
17: 36,548,150 (GRCm38) |
T194I |
possibly damaging |
Het |
| Haus6 |
C |
A |
4: 86,585,885 (GRCm38) |
E501* |
probably null |
Het |
| Ifna5 |
T |
C |
4: 88,835,910 (GRCm38) |
V129A |
probably benign |
Het |
| Kdelr3 |
A |
G |
15: 79,522,831 (GRCm38) |
I38V |
probably benign |
Het |
| Lamb1 |
A |
G |
12: 31,269,055 (GRCm38) |
|
probably null |
Het |
| Larp7-ps |
T |
C |
4: 92,191,323 (GRCm38) |
E87G |
probably benign |
Het |
| Mgat4c |
T |
A |
10: 102,378,262 (GRCm38) |
F35L |
probably benign |
Het |
| Mmab |
A |
T |
5: 114,433,317 (GRCm38) |
M166K |
probably benign |
Het |
| Mrpl2 |
A |
G |
17: 46,647,501 (GRCm38) |
T70A |
probably benign |
Het |
| Naa11 |
C |
T |
5: 97,391,759 (GRCm38) |
G180D |
probably benign |
Het |
| Npy6r |
T |
C |
18: 44,275,821 (GRCm38) |
V103A |
possibly damaging |
Het |
| Nup188 |
A |
T |
2: 30,341,782 (GRCm38) |
R1463W |
possibly damaging |
Het |
| Or8b12c |
T |
A |
9: 37,804,213 (GRCm38) |
F101I |
probably damaging |
Het |
| Pabpc4 |
T |
A |
4: 123,297,951 (GRCm38) |
L589Q |
probably damaging |
Het |
| Pcdh12 |
T |
A |
18: 38,282,096 (GRCm38) |
N659Y |
probably damaging |
Het |
| Perm1 |
T |
C |
4: 156,217,118 (GRCm38) |
S40P |
probably damaging |
Het |
| Phldb1 |
T |
C |
9: 44,726,025 (GRCm38) |
T114A |
probably damaging |
Het |
| Pirt |
C |
T |
11: 66,926,159 (GRCm38) |
L99F |
probably damaging |
Het |
| Plxdc2 |
A |
G |
2: 16,712,184 (GRCm38) |
R360G |
probably benign |
Het |
| Rhpn2 |
G |
A |
7: 35,381,532 (GRCm38) |
|
probably null |
Het |
| Rpusd2 |
T |
A |
2: 119,037,075 (GRCm38) |
I268N |
probably damaging |
Het |
| Sds |
G |
T |
5: 120,481,581 (GRCm38) |
W185L |
probably damaging |
Het |
| Serpinb5 |
A |
G |
1: 106,875,146 (GRCm38) |
K137R |
probably benign |
Het |
| Sh3pxd2a |
A |
G |
19: 47,424,569 (GRCm38) |
V25A |
possibly damaging |
Het |
| Slc1a2 |
C |
T |
2: 102,767,010 (GRCm38) |
T454I |
probably damaging |
Het |
| Slc25a40 |
T |
C |
5: 8,430,459 (GRCm38) |
C70R |
probably damaging |
Het |
| Smoc1 |
G |
A |
12: 81,167,590 (GRCm38) |
E260K |
probably damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,085,088 (GRCm38) |
F616I |
probably damaging |
Het |
| Ssc5d |
A |
T |
7: 4,936,335 (GRCm38) |
D590V |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,108,934 (GRCm38) |
R281C |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,941,174 (GRCm38) |
V430M |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,744,328 (GRCm38) |
D25407G |
probably damaging |
Het |
| Vmn2r68 |
T |
C |
7: 85,234,595 (GRCm38) |
I101V |
probably benign |
Het |
| Xrcc4 |
A |
T |
13: 90,062,142 (GRCm38) |
M61K |
probably damaging |
Het |
| Zfp648 |
A |
G |
1: 154,204,949 (GRCm38) |
T285A |
probably damaging |
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 |
|
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 |
119,627,591 (GRCm38) |
small insertion |
probably benign |
|
|
RF028:Nusap1
|
UTSW |
2 |
119,627,578 (GRCm38) |
small insertion |
probably benign |
|
|
RF029:Nusap1
|
UTSW |
2 |
119,627,594 (GRCm38) |
small insertion |
probably benign |
|
|
RF029:Nusap1
|
UTSW |
2 |
119,627,605 (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 |
119,627,607 (GRCm38) |
nonsense |
probably null |
|
|
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'- CTACAGAGTGAGTTCCAGGAC -3'
(R):5'- TGCCAGGAAGCACTTTACTAG -3'
Sequencing Primer
(F):5'- TGAGTTCCAGGACAGCCAG -3'
(R):5'- GTGTATACACTGTAACAGCACAC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation