Incidental Mutation 'R2080:Nup98'
| ID |
229416 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup98
|
| Ensembl Gene |
ENSMUSG00000063550 |
| Gene Name |
nucleoporin 98 |
| Synonyms |
Nup96 |
| MMRRC Submission |
040085-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2080 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
101768607-101859359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101829631 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 393
(N393S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148115
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070165]
[ENSMUST00000210682]
[ENSMUST00000211005]
[ENSMUST00000211022]
[ENSMUST00000211235]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000070165
AA Change: N393S
PolyPhen 2
Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000068530
Gene: ENSMUSG00000063550
AA Change: N393S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Nucleoporin_FG
|
3 |
88 |
4.6e-4 |
PFAM |
|
Pfam:Nucleoporin_FG
|
69 |
170 |
3.4e-6 |
PFAM |
|
Pfam:Nucleoporin_FG
|
210 |
307 |
6.1e-5 |
PFAM |
|
Pfam:Nucleoporin_FG
|
246 |
332 |
2.2e-7 |
PFAM |
|
Pfam:Nucleoporin_FG
|
266 |
359 |
1.2e-7 |
PFAM |
|
Pfam:Nucleoporin_FG
|
309 |
425 |
1.8e-2 |
PFAM |
|
Pfam:Nucleoporin_FG
|
398 |
497 |
2.2e-2 |
PFAM |
|
low complexity region
|
594 |
610 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
684 |
N/A |
INTRINSIC |
|
Pfam:Nucleoporin2
|
740 |
880 |
5.4e-45 |
PFAM |
|
PDB:1KO6|D
|
881 |
925 |
1e-16 |
PDB |
|
low complexity region
|
926 |
935 |
N/A |
INTRINSIC |
|
low complexity region
|
1033 |
1042 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209242
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210682
AA Change: N393S
PolyPhen 2
Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000211005
AA Change: N393S
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211022
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211235
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000211764
AA Change: N65S
|
| Meta Mutation Damage Score |
0.0634 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
100% (55/55) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes (NPCs) regulate the transport of macromolecules between the nucleus and cytoplasm, and are composed of many polypeptide subunits, many of which belong to the nucleoporin family. This gene belongs to the nucleoporin gene family and encodes a 186 kDa precursor protein that undergoes autoproteolytic cleavage to generate a 98 kDa nucleoporin and 96 kDa nucleoporin. The 98 kDa nucleoporin contains a Gly-Leu-Phe-Gly (GLGF) repeat domain and participates in many cellular processes, including nuclear import, nuclear export, mitotic progression, and regulation of gene expression. The 96 kDa nucleoporin is a scaffold component of the NPC. Proteolytic cleavage is important for targeting of the proteins to the NPC. Translocations between this gene and many other partner genes have been observed in different leukemias. Rearrangements typically result in chimeras with the N-terminal GLGF domain of this gene to the C-terminus of the partner gene. Alternative splicing results in multiple transcript variants encoding different isoforms, at least two of which are proteolytically processed. Some variants lack the region that encodes the 96 kDa nucleoporin. [provided by RefSeq, Feb 2016]
PHENOTYPE: Homozygotes for a null allele die in utero with a severe growth delay and improper gastrulation and nuclear pore complex assembly/function. Heterozygotes for another null allele show impaired IFN-mediated responses, reduced T and B cell subsets in lymphoid organs and altered T and B cell functions. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310003L06Rik |
A |
T |
5: 88,119,792 (GRCm39) |
D183V |
probably damaging |
Het |
| Ambra1 |
T |
A |
2: 91,716,064 (GRCm39) |
D858E |
probably damaging |
Het |
| Amdhd2 |
T |
C |
17: 24,375,578 (GRCm39) |
T370A |
probably benign |
Het |
| Amy1 |
A |
G |
3: 113,351,743 (GRCm39) |
W449R |
probably benign |
Het |
| Aox3 |
A |
T |
1: 58,225,439 (GRCm39) |
I1179F |
probably benign |
Het |
| Atp10a |
C |
A |
7: 58,474,075 (GRCm39) |
Q1121K |
probably damaging |
Het |
| Btaf1 |
C |
T |
19: 36,928,548 (GRCm39) |
A123V |
probably benign |
Het |
| Car6 |
T |
C |
4: 150,282,598 (GRCm39) |
K16E |
probably benign |
Het |
| Cgnl1 |
C |
T |
9: 71,563,378 (GRCm39) |
D779N |
probably benign |
Het |
| Cyp2a4 |
G |
A |
7: 26,007,962 (GRCm39) |
R123Q |
possibly damaging |
Het |
| D430041D05Rik |
C |
T |
2: 103,987,161 (GRCm39) |
R1895Q |
probably damaging |
Het |
| D5Ertd579e |
T |
A |
5: 36,773,550 (GRCm39) |
T282S |
probably benign |
Het |
| Dsel |
T |
C |
1: 111,787,692 (GRCm39) |
T948A |
probably benign |
Het |
| Ednrb |
A |
T |
14: 104,080,536 (GRCm39) |
I126N |
probably damaging |
Het |
| Egln1 |
A |
G |
8: 125,675,045 (GRCm39) |
M250T |
probably benign |
Het |
| Epb41l3 |
A |
T |
17: 69,560,463 (GRCm39) |
I337L |
possibly damaging |
Het |
| Epg5 |
T |
C |
18: 77,991,960 (GRCm39) |
I219T |
probably benign |
Het |
| Gm13030 |
T |
C |
4: 138,600,730 (GRCm39) |
|
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,980,810 (GRCm39) |
C637S |
probably benign |
Het |
| H1f1 |
A |
G |
13: 23,947,932 (GRCm39) |
N78S |
possibly damaging |
Het |
| Insrr |
T |
C |
3: 87,721,598 (GRCm39) |
I1168T |
possibly damaging |
Het |
| Ireb2 |
T |
C |
9: 54,803,836 (GRCm39) |
V509A |
possibly damaging |
Het |
| Kmt2c |
T |
C |
5: 25,559,715 (GRCm39) |
D981G |
probably damaging |
Het |
| Ktn1 |
A |
G |
14: 47,963,417 (GRCm39) |
E1164G |
probably damaging |
Het |
| L3hypdh |
A |
T |
12: 72,126,301 (GRCm39) |
V213E |
probably damaging |
Het |
| Masp1 |
T |
G |
16: 23,310,709 (GRCm39) |
D241A |
probably damaging |
Het |
| Mfsd13b |
A |
G |
7: 120,591,047 (GRCm39) |
I1V |
probably null |
Het |
| Muc5b |
T |
C |
7: 141,423,491 (GRCm39) |
V4531A |
probably benign |
Het |
| Myh2 |
A |
T |
11: 67,065,767 (GRCm39) |
|
probably null |
Het |
| Naip5 |
A |
G |
13: 100,358,041 (GRCm39) |
L1065P |
probably damaging |
Het |
| Necab1 |
T |
C |
4: 15,140,219 (GRCm39) |
|
probably benign |
Het |
| Nemf |
A |
G |
12: 69,400,560 (GRCm39) |
|
probably benign |
Het |
| Nfil3 |
A |
T |
13: 53,122,069 (GRCm39) |
D278E |
possibly damaging |
Het |
| Ogdh |
T |
A |
11: 6,299,393 (GRCm39) |
M753K |
probably benign |
Het |
| Or13c3 |
T |
C |
4: 52,855,568 (GRCm39) |
Y315C |
probably benign |
Het |
| Or2b6 |
A |
T |
13: 21,823,606 (GRCm39) |
V29E |
probably damaging |
Het |
| Or4k47 |
C |
T |
2: 111,452,084 (GRCm39) |
V112M |
probably benign |
Het |
| Or51f5 |
T |
C |
7: 102,424,450 (GRCm39) |
F240L |
probably benign |
Het |
| Or8b42 |
T |
A |
9: 38,342,378 (GRCm39) |
S267T |
probably benign |
Het |
| Pkd2 |
A |
G |
5: 104,624,989 (GRCm39) |
K262E |
probably benign |
Het |
| Plce1 |
C |
T |
19: 38,715,457 (GRCm39) |
|
probably benign |
Het |
| Ppm1f |
T |
A |
16: 16,741,744 (GRCm39) |
M406K |
possibly damaging |
Het |
| Ptgs1 |
C |
T |
2: 36,132,859 (GRCm39) |
Q286* |
probably null |
Het |
| Scube2 |
T |
C |
7: 109,407,712 (GRCm39) |
T743A |
possibly damaging |
Het |
| Tipin |
T |
A |
9: 64,197,658 (GRCm39) |
L69* |
probably null |
Het |
| Tlk1 |
T |
A |
2: 70,568,789 (GRCm39) |
K404N |
probably damaging |
Het |
| Tmem59 |
C |
A |
4: 107,035,971 (GRCm39) |
L16I |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,612,826 (GRCm39) |
E426G |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,216,320 (GRCm39) |
S709T |
probably damaging |
Het |
| Yjefn3 |
T |
C |
8: 70,342,137 (GRCm39) |
N28D |
probably damaging |
Het |
| Zfp598 |
A |
C |
17: 24,898,641 (GRCm39) |
D480A |
probably damaging |
Het |
|
| Other mutations in Nup98 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00662:Nup98
|
APN |
7 |
101,844,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00789:Nup98
|
APN |
7 |
101,803,178 (GRCm39) |
missense |
probably benign |
|
|
IGL00798:Nup98
|
APN |
7 |
101,796,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01562:Nup98
|
APN |
7 |
101,835,125 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01942:Nup98
|
APN |
7 |
101,843,918 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02109:Nup98
|
APN |
7 |
101,832,693 (GRCm39) |
missense |
probably benign |
0.37 |
|
IGL02490:Nup98
|
APN |
7 |
101,801,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03184:Nup98
|
APN |
7 |
101,832,752 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4519001:Nup98
|
UTSW |
7 |
101,784,171 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0040:Nup98
|
UTSW |
7 |
101,841,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0133:Nup98
|
UTSW |
7 |
101,788,859 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0309:Nup98
|
UTSW |
7 |
101,801,635 (GRCm39) |
missense |
probably null |
|
|
R0471:Nup98
|
UTSW |
7 |
101,788,004 (GRCm39) |
missense |
probably benign |
0.13 |
|
R0538:Nup98
|
UTSW |
7 |
101,835,892 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0650:Nup98
|
UTSW |
7 |
101,801,660 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Nup98
|
UTSW |
7 |
101,809,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0881:Nup98
|
UTSW |
7 |
101,809,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0900:Nup98
|
UTSW |
7 |
101,809,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1120:Nup98
|
UTSW |
7 |
101,809,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1159:Nup98
|
UTSW |
7 |
101,809,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1469:Nup98
|
UTSW |
7 |
101,788,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1469:Nup98
|
UTSW |
7 |
101,788,008 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1470:Nup98
|
UTSW |
7 |
101,796,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1470:Nup98
|
UTSW |
7 |
101,796,513 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1545:Nup98
|
UTSW |
7 |
101,784,087 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1775:Nup98
|
UTSW |
7 |
101,784,144 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1889:Nup98
|
UTSW |
7 |
101,809,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3423:Nup98
|
UTSW |
7 |
101,834,084 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4361:Nup98
|
UTSW |
7 |
101,794,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4678:Nup98
|
UTSW |
7 |
101,834,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4864:Nup98
|
UTSW |
7 |
101,802,403 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R4910:Nup98
|
UTSW |
7 |
101,845,007 (GRCm39) |
missense |
unknown |
|
|
R4924:Nup98
|
UTSW |
7 |
101,784,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5068:Nup98
|
UTSW |
7 |
101,794,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5069:Nup98
|
UTSW |
7 |
101,794,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5233:Nup98
|
UTSW |
7 |
101,845,029 (GRCm39) |
missense |
unknown |
|
|
R5779:Nup98
|
UTSW |
7 |
101,801,568 (GRCm39) |
missense |
probably benign |
|
|
R5922:Nup98
|
UTSW |
7 |
101,803,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6010:Nup98
|
UTSW |
7 |
101,829,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Nup98
|
UTSW |
7 |
101,784,002 (GRCm39) |
missense |
probably benign |
|
|
R6039:Nup98
|
UTSW |
7 |
101,784,002 (GRCm39) |
missense |
probably benign |
|
|
R6343:Nup98
|
UTSW |
7 |
101,843,957 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6364:Nup98
|
UTSW |
7 |
101,825,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6462:Nup98
|
UTSW |
7 |
101,844,223 (GRCm39) |
missense |
probably benign |
0.03 |
|
R6577:Nup98
|
UTSW |
7 |
101,778,053 (GRCm39) |
splice site |
probably null |
|
|
R6900:Nup98
|
UTSW |
7 |
101,835,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7205:Nup98
|
UTSW |
7 |
101,844,248 (GRCm39) |
missense |
unknown |
|
|
R7218:Nup98
|
UTSW |
7 |
101,841,107 (GRCm39) |
splice site |
probably null |
|
|
R7235:Nup98
|
UTSW |
7 |
101,774,491 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7307:Nup98
|
UTSW |
7 |
101,784,002 (GRCm39) |
missense |
probably benign |
|
|
R7402:Nup98
|
UTSW |
7 |
101,784,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7427:Nup98
|
UTSW |
7 |
101,784,208 (GRCm39) |
splice site |
probably null |
|
|
R7428:Nup98
|
UTSW |
7 |
101,784,208 (GRCm39) |
splice site |
probably null |
|
|
R7584:Nup98
|
UTSW |
7 |
101,825,596 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7646:Nup98
|
UTSW |
7 |
101,803,242 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7648:Nup98
|
UTSW |
7 |
101,773,404 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7742:Nup98
|
UTSW |
7 |
101,802,464 (GRCm39) |
splice site |
probably null |
|
|
R7827:Nup98
|
UTSW |
7 |
101,773,569 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7884:Nup98
|
UTSW |
7 |
101,825,556 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7943:Nup98
|
UTSW |
7 |
101,844,029 (GRCm39) |
missense |
probably benign |
0.10 |
|
R8034:Nup98
|
UTSW |
7 |
101,794,930 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R8952:Nup98
|
UTSW |
7 |
101,835,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9060:Nup98
|
UTSW |
7 |
101,783,895 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9099:Nup98
|
UTSW |
7 |
101,844,173 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9146:Nup98
|
UTSW |
7 |
101,788,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9148:Nup98
|
UTSW |
7 |
101,788,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9223:Nup98
|
UTSW |
7 |
101,834,167 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R9246:Nup98
|
UTSW |
7 |
101,788,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9249:Nup98
|
UTSW |
7 |
101,788,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9272:Nup98
|
UTSW |
7 |
101,788,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9274:Nup98
|
UTSW |
7 |
101,788,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9283:Nup98
|
UTSW |
7 |
101,788,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9326:Nup98
|
UTSW |
7 |
101,788,037 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9466:Nup98
|
UTSW |
7 |
101,818,611 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9492:Nup98
|
UTSW |
7 |
101,778,252 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9661:Nup98
|
UTSW |
7 |
101,782,019 (GRCm39) |
nonsense |
probably null |
|
|
T0970:Nup98
|
UTSW |
7 |
101,835,959 (GRCm39) |
unclassified |
probably benign |
|
|
X0054:Nup98
|
UTSW |
7 |
101,796,415 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATCAGGCTACAGCTTACC -3'
(R):5'- TTACAAGCAGTTGTGAGCTGC -3'
Sequencing Primer
(F):5'- CAGGAGAATGATGTGTGGTAT -3'
(R):5'- CTTGAGTCCTCTGAAAGAGCAGTC -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation