Incidental Mutation 'R4157:Nup50l'
ID |
315577 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup50l
|
Ensembl Gene |
ENSMUSG00000072878 |
Gene Name |
nucleoporin 50 like |
Synonyms |
1700123L14Rik |
MMRRC Submission |
041000-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.229)
|
Stock # |
R4157 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
96141484-96143186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to G
at 96142264 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Serine
at position 260
(W260S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000087515
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075080]
[ENSMUST00000090061]
[ENSMUST00000122120]
|
AlphaFold |
Q3V2K7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000075080
|
SMART Domains |
Protein: ENSMUSP00000074589 Gene: ENSMUSG00000059187
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:TAFA
|
40 |
129 |
3.9e-60 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000090061
AA Change: W260S
PolyPhen 2
Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000087515 Gene: ENSMUSG00000072878 AA Change: W260S
Domain | Start | End | E-Value | Type |
Pfam:NUP50
|
2 |
73 |
1.8e-15 |
PFAM |
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
RanBD
|
315 |
438 |
2.69e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000122120
|
SMART Domains |
Protein: ENSMUSP00000113152 Gene: ENSMUSG00000059187
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
25 |
N/A |
INTRINSIC |
Pfam:TAFA
|
41 |
129 |
4e-50 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
95% (52/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts7 |
G |
T |
9: 90,070,414 (GRCm39) |
R585L |
probably damaging |
Het |
Adamtsl5 |
C |
T |
10: 80,181,156 (GRCm39) |
R75Q |
probably null |
Het |
Ankrd26 |
T |
A |
6: 118,484,782 (GRCm39) |
Q1485L |
probably damaging |
Het |
Apbb2 |
G |
A |
5: 66,459,947 (GRCm39) |
R717* |
probably null |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Atp8b5 |
A |
G |
4: 43,365,591 (GRCm39) |
E735G |
probably damaging |
Het |
Bcl11b |
A |
T |
12: 107,883,684 (GRCm39) |
|
probably null |
Het |
C4b |
A |
G |
17: 34,961,829 (GRCm39) |
I139T |
probably damaging |
Het |
Ccpg1 |
C |
A |
9: 72,919,449 (GRCm39) |
Q355K |
probably benign |
Het |
Cdk8 |
A |
T |
5: 146,236,259 (GRCm39) |
|
probably benign |
Het |
Ctif |
T |
C |
18: 75,568,341 (GRCm39) |
H599R |
probably benign |
Het |
Degs1 |
A |
G |
1: 182,110,192 (GRCm39) |
I26T |
possibly damaging |
Het |
Dnajc4 |
T |
C |
19: 6,967,208 (GRCm39) |
N72S |
probably damaging |
Het |
Ecd |
A |
G |
14: 20,374,632 (GRCm39) |
S503P |
probably damaging |
Het |
Gm3486 |
G |
A |
14: 41,208,343 (GRCm39) |
L123F |
probably benign |
Het |
Inpp5f |
C |
T |
7: 128,281,423 (GRCm39) |
|
probably benign |
Het |
Irx4 |
A |
T |
13: 73,413,662 (GRCm39) |
Q44L |
probably benign |
Het |
Krt9 |
T |
A |
11: 100,079,475 (GRCm39) |
Y639F |
unknown |
Het |
Lgals9 |
C |
A |
11: 78,863,933 (GRCm39) |
V71L |
possibly damaging |
Het |
Mdga1 |
T |
C |
17: 30,052,317 (GRCm39) |
N143S |
probably benign |
Het |
Ndufs4 |
A |
T |
13: 114,444,390 (GRCm39) |
S129R |
probably benign |
Het |
Oog2 |
A |
G |
4: 143,920,523 (GRCm39) |
|
probably benign |
Het |
Orm2 |
T |
A |
4: 63,282,222 (GRCm39) |
F133L |
probably null |
Het |
Pasd1 |
T |
C |
X: 70,983,161 (GRCm39) |
C378R |
possibly damaging |
Het |
Pidd1 |
A |
G |
7: 141,021,279 (GRCm39) |
V333A |
possibly damaging |
Het |
Ppp4r3a |
A |
G |
12: 101,021,878 (GRCm39) |
F341L |
probably damaging |
Het |
Rab11fip1 |
A |
T |
8: 27,642,175 (GRCm39) |
S875T |
probably damaging |
Het |
Rpap1 |
C |
T |
2: 119,604,660 (GRCm39) |
R416H |
probably damaging |
Het |
Rpl31-ps17 |
C |
T |
12: 54,748,397 (GRCm39) |
|
noncoding transcript |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Snx22 |
T |
C |
9: 65,975,493 (GRCm39) |
Y92C |
probably damaging |
Het |
Srgn |
A |
G |
10: 62,333,613 (GRCm39) |
F55L |
possibly damaging |
Het |
Swt1 |
A |
T |
1: 151,278,795 (GRCm39) |
V454E |
probably damaging |
Het |
Tmem54 |
G |
A |
4: 129,004,504 (GRCm39) |
R151Q |
probably damaging |
Het |
Tns1 |
T |
A |
1: 73,953,790 (GRCm39) |
N1848Y |
probably damaging |
Het |
Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
Top2b |
A |
G |
14: 16,384,491 (GRCm38) |
N80S |
probably benign |
Het |
Trim7 |
T |
C |
11: 48,738,920 (GRCm39) |
V313A |
probably benign |
Het |
Uaca |
A |
G |
9: 60,779,035 (GRCm39) |
S1141G |
probably benign |
Het |
Ubr3 |
T |
C |
2: 69,790,013 (GRCm39) |
|
probably null |
Het |
Utp20 |
A |
G |
10: 88,597,729 (GRCm39) |
V121A |
probably benign |
Het |
Wdr20 |
G |
A |
12: 110,704,608 (GRCm39) |
R49H |
possibly damaging |
Het |
Ylpm1 |
T |
C |
12: 85,104,177 (GRCm39) |
|
probably benign |
Het |
Zfp398 |
A |
T |
6: 47,812,843 (GRCm39) |
T5S |
probably benign |
Het |
Zfp410 |
G |
A |
12: 84,374,206 (GRCm39) |
R181H |
probably damaging |
Het |
Zfp523 |
C |
T |
17: 28,421,257 (GRCm39) |
A367V |
probably benign |
Het |
Zfp748 |
G |
A |
13: 67,690,225 (GRCm39) |
S345L |
possibly damaging |
Het |
|
Other mutations in Nup50l |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01656:Nup50l
|
APN |
6 |
96,142,675 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02347:Nup50l
|
APN |
6 |
96,142,511 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02532:Nup50l
|
APN |
6 |
96,141,771 (GRCm39) |
missense |
probably damaging |
0.99 |
PIT4283001:Nup50l
|
UTSW |
6 |
96,142,696 (GRCm39) |
missense |
probably benign |
|
R0282:Nup50l
|
UTSW |
6 |
96,141,797 (GRCm39) |
missense |
probably benign |
0.02 |
R0946:Nup50l
|
UTSW |
6 |
96,142,677 (GRCm39) |
missense |
possibly damaging |
0.68 |
R1275:Nup50l
|
UTSW |
6 |
96,142,099 (GRCm39) |
missense |
probably benign |
0.03 |
R1605:Nup50l
|
UTSW |
6 |
96,141,793 (GRCm39) |
missense |
probably benign |
0.34 |
R1610:Nup50l
|
UTSW |
6 |
96,142,270 (GRCm39) |
missense |
probably damaging |
0.98 |
R1959:Nup50l
|
UTSW |
6 |
96,142,250 (GRCm39) |
missense |
possibly damaging |
0.73 |
R1961:Nup50l
|
UTSW |
6 |
96,142,250 (GRCm39) |
missense |
possibly damaging |
0.73 |
R2116:Nup50l
|
UTSW |
6 |
96,141,841 (GRCm39) |
missense |
probably damaging |
0.99 |
R3708:Nup50l
|
UTSW |
6 |
96,142,933 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4285:Nup50l
|
UTSW |
6 |
96,142,733 (GRCm39) |
missense |
probably benign |
0.07 |
R4571:Nup50l
|
UTSW |
6 |
96,141,862 (GRCm39) |
missense |
probably damaging |
1.00 |
R4884:Nup50l
|
UTSW |
6 |
96,141,793 (GRCm39) |
missense |
probably damaging |
1.00 |
R4905:Nup50l
|
UTSW |
6 |
96,142,911 (GRCm39) |
missense |
possibly damaging |
0.77 |
R6454:Nup50l
|
UTSW |
6 |
96,142,609 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6755:Nup50l
|
UTSW |
6 |
96,141,953 (GRCm39) |
missense |
probably benign |
0.06 |
R6790:Nup50l
|
UTSW |
6 |
96,142,304 (GRCm39) |
missense |
probably benign |
|
R6792:Nup50l
|
UTSW |
6 |
96,142,096 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6931:Nup50l
|
UTSW |
6 |
96,142,529 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7081:Nup50l
|
UTSW |
6 |
96,142,798 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7194:Nup50l
|
UTSW |
6 |
96,141,756 (GRCm39) |
missense |
probably benign |
0.04 |
R7584:Nup50l
|
UTSW |
6 |
96,142,373 (GRCm39) |
missense |
probably benign |
0.41 |
R7938:Nup50l
|
UTSW |
6 |
96,141,866 (GRCm39) |
missense |
possibly damaging |
0.66 |
R7983:Nup50l
|
UTSW |
6 |
96,142,888 (GRCm39) |
missense |
probably damaging |
0.96 |
R8052:Nup50l
|
UTSW |
6 |
96,142,084 (GRCm39) |
intron |
probably benign |
|
R8052:Nup50l
|
UTSW |
6 |
96,142,078 (GRCm39) |
intron |
probably benign |
|
R8303:Nup50l
|
UTSW |
6 |
96,142,702 (GRCm39) |
missense |
probably benign |
0.41 |
R8351:Nup50l
|
UTSW |
6 |
96,142,655 (GRCm39) |
missense |
probably benign |
0.12 |
R8785:Nup50l
|
UTSW |
6 |
96,141,871 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8827:Nup50l
|
UTSW |
6 |
96,142,293 (GRCm39) |
missense |
probably benign |
0.00 |
R9280:Nup50l
|
UTSW |
6 |
96,141,982 (GRCm39) |
missense |
probably damaging |
1.00 |
R9403:Nup50l
|
UTSW |
6 |
96,142,280 (GRCm39) |
missense |
probably benign |
0.01 |
R9470:Nup50l
|
UTSW |
6 |
96,142,474 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9600:Nup50l
|
UTSW |
6 |
96,142,156 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
Predicted Primers |
PCR Primer
(F):5'- ACACTTCTTGCAGTAGAAAGCAC -3'
(R):5'- TCTCAGAAAGCGAGCCTAAC -3'
Sequencing Primer
(F):5'- GAAAGCACTTTCCTCCTCCTC -3'
(R):5'- CCTAACCGGGGCTTTGTTGC -3'
|
Posted On |
2015-05-14 |