Incidental Mutation 'R5111:Nusap1'
| ID |
393839 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nusap1
|
| Ensembl Gene |
ENSMUSG00000027306 |
| Gene Name |
nucleolar and spindle associated protein 1 |
| Synonyms |
2610201A12Rik, NuSAP |
| MMRRC Submission |
042699-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5111 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
119449205-119480646 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 119460837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Stop codon
at position 110
(L110*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000068713
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028771]
[ENSMUST00000068225]
|
| AlphaFold |
Q9ERH4 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000028771
AA Change: L110*
|
| SMART Domains |
Protein: ENSMUSP00000028771
Gene: ENSMUSG00000027306
AA Change: L110*
| 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 null
Transcript: ENSMUST00000068225
AA Change: L110*
|
| SMART Domains |
Protein: ENSMUSP00000068713
Gene: ENSMUSG00000027306
AA Change: L110*
| 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 |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.0%
|
| Validation Efficiency |
100% (56/56) |
| 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 |
|---|
| Abhd17c |
A |
T |
7: 83,800,646 (GRCm39) |
L136* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,390,858 (GRCm39) |
S2271T |
possibly damaging |
Het |
| Arhgef10 |
A |
G |
8: 14,982,408 (GRCm39) |
D179G |
probably benign |
Het |
| Bcan |
G |
T |
3: 87,901,514 (GRCm39) |
S396Y |
probably damaging |
Het |
| Btbd3 |
T |
A |
2: 138,120,829 (GRCm39) |
M1K |
probably null |
Het |
| Capns1 |
A |
G |
7: 29,891,944 (GRCm39) |
V106A |
probably benign |
Het |
| Ccnjl |
A |
G |
11: 43,447,544 (GRCm39) |
T76A |
probably benign |
Het |
| Cdc23 |
C |
A |
18: 34,784,742 (GRCm39) |
V7L |
unknown |
Het |
| Col6a6 |
C |
T |
9: 105,586,673 (GRCm39) |
V1783I |
possibly damaging |
Het |
| Crisp3 |
T |
C |
17: 40,536,695 (GRCm39) |
T207A |
possibly damaging |
Het |
| Crxos |
G |
A |
7: 15,630,142 (GRCm39) |
|
probably benign |
Het |
| Csf3r |
T |
C |
4: 125,923,861 (GRCm39) |
|
probably null |
Het |
| Cyp2a12 |
A |
G |
7: 26,736,046 (GRCm39) |
Y485C |
possibly damaging |
Het |
| Echdc2 |
A |
T |
4: 108,026,994 (GRCm39) |
|
probably benign |
Het |
| Elp3 |
A |
C |
14: 65,797,685 (GRCm39) |
Y329D |
probably damaging |
Het |
| Fbxw16 |
T |
C |
9: 109,265,796 (GRCm39) |
D341G |
probably benign |
Het |
| H2-Ab1 |
T |
A |
17: 34,486,456 (GRCm39) |
S172T |
probably damaging |
Het |
| Hyal2 |
T |
C |
9: 107,448,310 (GRCm39) |
V321A |
probably benign |
Het |
| Ighv6-3 |
A |
T |
12: 114,355,394 (GRCm39) |
S98R |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,155 (GRCm39) |
E153G |
possibly damaging |
Het |
| Klrb1c |
C |
T |
6: 128,762,968 (GRCm39) |
R83H |
probably benign |
Het |
| Krtap16-1 |
T |
C |
11: 99,877,378 (GRCm39) |
K9E |
possibly damaging |
Het |
| Liph |
G |
A |
16: 21,802,820 (GRCm39) |
S83F |
probably damaging |
Het |
| Lnpep |
A |
G |
17: 17,798,872 (GRCm39) |
I261T |
possibly damaging |
Het |
| Mdm2 |
A |
T |
10: 117,527,126 (GRCm39) |
V273D |
possibly damaging |
Het |
| Mterf1a |
A |
G |
5: 3,941,860 (GRCm39) |
S3P |
probably benign |
Het |
| Myt1 |
A |
G |
2: 181,437,678 (GRCm39) |
T172A |
probably benign |
Het |
| Nufip2 |
T |
A |
11: 77,582,669 (GRCm39) |
S194R |
probably benign |
Het |
| Palb2 |
A |
T |
7: 121,716,528 (GRCm39) |
C488* |
probably null |
Het |
| Pcdhac1 |
A |
T |
18: 37,224,558 (GRCm39) |
N457I |
probably damaging |
Het |
| Per1 |
A |
T |
11: 68,991,612 (GRCm39) |
S49C |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,558 (GRCm39) |
I535N |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,284,858 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,601,728 (GRCm39) |
L744Q |
probably damaging |
Het |
| Sdk1 |
A |
G |
5: 142,113,600 (GRCm39) |
E1549G |
probably damaging |
Het |
| Tnr |
C |
T |
1: 159,713,798 (GRCm39) |
T742I |
probably benign |
Het |
| Trp53bp1 |
A |
T |
2: 121,041,868 (GRCm39) |
H1229Q |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,567,154 (GRCm39) |
H920R |
possibly damaging |
Het |
| Urb1 |
A |
C |
16: 90,548,905 (GRCm39) |
S2268A |
probably benign |
Het |
| Usp32 |
A |
T |
11: 84,968,157 (GRCm39) |
Y169N |
possibly damaging |
Het |
| Vmn2r18 |
A |
T |
5: 151,485,913 (GRCm39) |
M527K |
possibly damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,546,326 (GRCm39) |
I733F |
probably damaging |
Het |
| Vstm2l |
A |
G |
2: 157,777,389 (GRCm39) |
D89G |
probably damaging |
Het |
| Zdhhc8 |
G |
T |
16: 18,044,612 (GRCm39) |
Q303K |
probably benign |
Het |
| Zfand2a |
A |
G |
5: 139,459,509 (GRCm39) |
V159A |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,865,170 (GRCm39) |
|
noncoding transcript |
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 |
|
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'- TGACCTCTAGTGCCTGCTTG -3'
(R):5'- CTGGCTTGCATTCCTAGGAAAATAATC -3'
Sequencing Primer
(F):5'- TGGAAATTATAATTTGGAGCACTGGG -3'
(R):5'- ACATGGTCCCCCTAGCAGTTTTAG -3'
|
| Posted On |
2016-06-15 |
Incidental Mutation