Incidental Mutation 'R6721:Nup153'
| ID |
529601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup153
|
| Ensembl Gene |
ENSMUSG00000021374 |
| Gene Name |
nucleoporin 153 |
| Synonyms |
B130015D15Rik |
| MMRRC Submission |
044839-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.930)
|
| Stock # |
R6721 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
46833381-46881416 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 46854502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 530
(V530A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021803
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021803]
|
| AlphaFold |
E9Q3G8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021803
AA Change: V530A
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000021803
Gene: ENSMUSG00000021374
AA Change: V530A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
15 |
N/A |
INTRINSIC |
|
Pfam:Nup153
|
114 |
627 |
6e-236 |
PFAM |
|
ZnF_RBZ
|
656 |
680 |
6.56e-6 |
SMART |
|
ZnF_RBZ
|
719 |
743 |
5.89e-8 |
SMART |
|
low complexity region
|
756 |
775 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
787 |
811 |
7.2e-3 |
SMART |
|
low complexity region
|
815 |
830 |
N/A |
INTRINSIC |
|
ZnF_RBZ
|
844 |
868 |
1.64e-6 |
SMART |
|
low complexity region
|
898 |
911 |
N/A |
INTRINSIC |
|
low complexity region
|
1078 |
1085 |
N/A |
INTRINSIC |
|
low complexity region
|
1183 |
1207 |
N/A |
INTRINSIC |
|
low complexity region
|
1248 |
1260 |
N/A |
INTRINSIC |
|
low complexity region
|
1271 |
1296 |
N/A |
INTRINSIC |
|
Pfam:Nup_retrotrp_bd
|
1372 |
1462 |
4.4e-24 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182358
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224186
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000225894
AA Change: V145A
|
| Meta Mutation Damage Score |
0.1240 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (44/44) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nuclear pore complexes regulate the transport of macromolecules between the nucleus and cytoplasm. They are composed of at least 100 different polypeptide subunits, many of which belong to the nucleoporin family. Nucleoporins are glycoproteins found in nuclear pores and contain characteristic pentapeptide XFXFG repeats as well as O-linked N-acetylglucosamine residues oriented towards the cytoplasm. The protein encoded by this gene has three distinct domains: a N-terminal region containing a pore targeting and an RNA-binding domain domain, a central region containing multiple zinc finger motifs, and a C-terminal region containing multiple XFXFG repeats. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, May 2013]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
A |
G |
13: 81,629,634 (GRCm39) |
L3588S |
probably benign |
Het |
| Ankrd27 |
T |
C |
7: 35,311,976 (GRCm39) |
F402S |
probably damaging |
Het |
| Aplp1 |
T |
C |
7: 30,139,720 (GRCm39) |
Q359R |
probably null |
Het |
| Arhgef10l |
T |
C |
4: 140,297,655 (GRCm39) |
Y546C |
probably damaging |
Het |
| Bltp2 |
T |
C |
11: 78,170,625 (GRCm39) |
Y1615H |
probably damaging |
Het |
| Cd46 |
T |
C |
1: 194,765,939 (GRCm39) |
Y142C |
probably damaging |
Het |
| Cfap418 |
A |
G |
4: 10,874,744 (GRCm39) |
N44D |
probably benign |
Het |
| Chd3 |
T |
C |
11: 69,260,045 (GRCm39) |
|
probably benign |
Het |
| Cmtm2b |
A |
G |
8: 105,049,077 (GRCm39) |
S31G |
possibly damaging |
Het |
| CN725425 |
A |
G |
15: 91,115,821 (GRCm39) |
K21R |
possibly damaging |
Het |
| Cngb1 |
T |
C |
8: 95,997,516 (GRCm39) |
T560A |
probably benign |
Het |
| Creb3l3 |
T |
C |
10: 80,926,977 (GRCm39) |
D151G |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,504,108 (GRCm39) |
V124E |
probably damaging |
Het |
| Ctsd |
G |
A |
7: 141,930,590 (GRCm39) |
P349S |
possibly damaging |
Het |
| Ern1 |
A |
G |
11: 106,302,478 (GRCm39) |
W459R |
probably damaging |
Het |
| Faxc |
A |
T |
4: 21,982,672 (GRCm39) |
|
probably null |
Het |
| Gabbr1 |
T |
C |
17: 37,365,084 (GRCm39) |
I239T |
probably damaging |
Het |
| Galnt12 |
T |
A |
4: 47,122,529 (GRCm39) |
C269* |
probably null |
Het |
| Gmpr2 |
A |
T |
14: 55,910,191 (GRCm39) |
D7V |
probably damaging |
Het |
| Hivep3 |
T |
A |
4: 119,952,296 (GRCm39) |
I204N |
possibly damaging |
Het |
| Il16 |
A |
T |
7: 83,312,270 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
C |
2: 136,936,394 (GRCm39) |
T367A |
probably benign |
Het |
| Lefty2 |
T |
C |
1: 180,722,166 (GRCm39) |
V168A |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,034,023 (GRCm39) |
E227G |
probably damaging |
Het |
| Muc5ac |
T |
A |
7: 141,352,729 (GRCm39) |
C739S |
possibly damaging |
Het |
| Npy1r |
T |
A |
8: 67,156,941 (GRCm39) |
C120* |
probably null |
Het |
| Ogfr |
T |
A |
2: 180,237,221 (GRCm39) |
L602Q |
possibly damaging |
Het |
| Or10g7 |
C |
T |
9: 39,905,603 (GRCm39) |
P166S |
possibly damaging |
Het |
| Or10h5 |
C |
T |
17: 33,434,508 (GRCm39) |
G270E |
probably benign |
Het |
| Or7e178 |
A |
C |
9: 20,225,576 (GRCm39) |
D213E |
probably benign |
Het |
| Perm1 |
G |
T |
4: 156,302,776 (GRCm39) |
R440L |
probably benign |
Het |
| Plcb4 |
T |
C |
2: 135,752,157 (GRCm39) |
V121A |
probably benign |
Het |
| Plxna4 |
C |
T |
6: 32,177,794 (GRCm39) |
V1036M |
probably benign |
Het |
| Ppl |
A |
T |
16: 4,925,333 (GRCm39) |
M102K |
probably damaging |
Het |
| Prop1 |
T |
C |
11: 50,844,213 (GRCm39) |
S7G |
probably benign |
Het |
| Rabggta |
A |
G |
14: 55,954,660 (GRCm39) |
L507P |
probably damaging |
Het |
| Sfmbt2 |
A |
G |
2: 10,547,836 (GRCm39) |
T473A |
probably damaging |
Het |
| Spc25 |
A |
C |
2: 69,027,517 (GRCm39) |
M125R |
possibly damaging |
Het |
| Taok3 |
T |
C |
5: 117,393,928 (GRCm39) |
M567T |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,851,917 (GRCm39) |
Y327H |
probably benign |
Het |
| Tmem209 |
A |
G |
6: 30,497,174 (GRCm39) |
F339L |
probably benign |
Het |
| U2surp |
T |
C |
9: 95,373,157 (GRCm39) |
N279S |
probably damaging |
Het |
| Ythdf3 |
G |
A |
3: 16,258,025 (GRCm39) |
M61I |
possibly damaging |
Het |
| Zfp647 |
T |
C |
15: 76,796,076 (GRCm39) |
I195V |
probably benign |
Het |
|
| Other mutations in Nup153 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00657:Nup153
|
APN |
13 |
46,834,626 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01312:Nup153
|
APN |
13 |
46,840,300 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01459:Nup153
|
APN |
13 |
46,866,402 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
IGL01646:Nup153
|
APN |
13 |
46,837,583 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03064:Nup153
|
APN |
13 |
46,847,315 (GRCm39) |
missense |
probably benign |
|
|
IGL03288:Nup153
|
APN |
13 |
46,858,681 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03369:Nup153
|
APN |
13 |
46,854,459 (GRCm39) |
splice site |
probably null |
|
|
IGL03371:Nup153
|
APN |
13 |
46,836,628 (GRCm39) |
missense |
probably benign |
0.34 |
|
R0193:Nup153
|
UTSW |
13 |
46,863,130 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0244:Nup153
|
UTSW |
13 |
46,847,412 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0448:Nup153
|
UTSW |
13 |
46,870,657 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0943:Nup153
|
UTSW |
13 |
46,850,248 (GRCm39) |
splice site |
probably benign |
|
|
R1219:Nup153
|
UTSW |
13 |
46,840,695 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1381:Nup153
|
UTSW |
13 |
46,842,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1709:Nup153
|
UTSW |
13 |
46,847,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1727:Nup153
|
UTSW |
13 |
46,847,261 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1818:Nup153
|
UTSW |
13 |
46,835,113 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1824:Nup153
|
UTSW |
13 |
46,867,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1928:Nup153
|
UTSW |
13 |
46,854,502 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2108:Nup153
|
UTSW |
13 |
46,846,986 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2110:Nup153
|
UTSW |
13 |
46,837,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2111:Nup153
|
UTSW |
13 |
46,837,404 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2173:Nup153
|
UTSW |
13 |
46,855,076 (GRCm39) |
splice site |
probably benign |
|
|
R2231:Nup153
|
UTSW |
13 |
46,863,103 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3879:Nup153
|
UTSW |
13 |
46,837,436 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4634:Nup153
|
UTSW |
13 |
46,840,706 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4662:Nup153
|
UTSW |
13 |
46,840,750 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4932:Nup153
|
UTSW |
13 |
46,866,213 (GRCm39) |
nonsense |
probably null |
|
|
R5011:Nup153
|
UTSW |
13 |
46,840,879 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R5023:Nup153
|
UTSW |
13 |
46,834,585 (GRCm39) |
unclassified |
probably benign |
|
|
R5069:Nup153
|
UTSW |
13 |
46,863,268 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5137:Nup153
|
UTSW |
13 |
46,837,629 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5323:Nup153
|
UTSW |
13 |
46,870,682 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5345:Nup153
|
UTSW |
13 |
46,840,341 (GRCm39) |
nonsense |
probably null |
|
|
R5536:Nup153
|
UTSW |
13 |
46,836,485 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5613:Nup153
|
UTSW |
13 |
46,840,747 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R5620:Nup153
|
UTSW |
13 |
46,837,482 (GRCm39) |
nonsense |
probably null |
|
|
R5764:Nup153
|
UTSW |
13 |
46,840,803 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5849:Nup153
|
UTSW |
13 |
46,840,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6454:Nup153
|
UTSW |
13 |
46,863,136 (GRCm39) |
splice site |
probably null |
|
|
R6701:Nup153
|
UTSW |
13 |
46,840,541 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6737:Nup153
|
UTSW |
13 |
46,842,682 (GRCm39) |
missense |
probably benign |
0.08 |
|
R6789:Nup153
|
UTSW |
13 |
46,870,792 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6820:Nup153
|
UTSW |
13 |
46,863,459 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6837:Nup153
|
UTSW |
13 |
46,847,527 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6913:Nup153
|
UTSW |
13 |
46,853,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7052:Nup153
|
UTSW |
13 |
46,840,949 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7091:Nup153
|
UTSW |
13 |
46,837,404 (GRCm39) |
missense |
probably benign |
|
|
R7357:Nup153
|
UTSW |
13 |
46,870,642 (GRCm39) |
missense |
probably benign |
0.32 |
|
R7389:Nup153
|
UTSW |
13 |
46,854,463 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7423:Nup153
|
UTSW |
13 |
46,850,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7453:Nup153
|
UTSW |
13 |
46,834,657 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7611:Nup153
|
UTSW |
13 |
46,840,798 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7876:Nup153
|
UTSW |
13 |
46,835,084 (GRCm39) |
missense |
probably benign |
|
|
R7909:Nup153
|
UTSW |
13 |
46,847,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7938:Nup153
|
UTSW |
13 |
46,842,855 (GRCm39) |
splice site |
probably null |
|
|
R8735:Nup153
|
UTSW |
13 |
46,881,027 (GRCm39) |
start gained |
probably benign |
|
|
R8804:Nup153
|
UTSW |
13 |
46,840,635 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8916:Nup153
|
UTSW |
13 |
46,863,462 (GRCm39) |
nonsense |
probably null |
|
|
R9025:Nup153
|
UTSW |
13 |
46,837,709 (GRCm39) |
missense |
probably benign |
0.36 |
|
R9217:Nup153
|
UTSW |
13 |
46,835,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9390:Nup153
|
UTSW |
13 |
46,840,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9701:Nup153
|
UTSW |
13 |
46,840,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9714:Nup153
|
UTSW |
13 |
46,866,435 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTAACTGCCCAACTTACACAGAAG -3'
(R):5'- GTGGGGCACTTACTAGTCAATG -3'
Sequencing Primer
(F):5'- ACATTTGTTTCCTGTAACACTATCTG -3'
(R):5'- GGGCACTTACTAGTCAATGTTTTG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation