Incidental Mutation 'PIT4283001:Nup50l'
ID |
554362 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup50l
|
Ensembl Gene |
ENSMUSG00000072878 |
Gene Name |
nucleoporin 50 like |
Synonyms |
1700123L14Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.229)
|
Stock # |
PIT4283001 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
96141484-96143186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96142696 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 116
(I116T)
|
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 |
probably benign
Transcript: ENSMUST00000090061
AA Change: I116T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000087515 Gene: ENSMUSG00000072878 AA Change: I116T
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: 93.2%
- 3x: 91.1%
- 10x: 86.5%
- 20x: 76.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610028H24Rik |
A |
C |
10: 76,285,093 (GRCm39) |
M1L |
probably benign |
Het |
Aacs |
C |
A |
5: 125,561,719 (GRCm39) |
A119D |
probably damaging |
Het |
Abcb1b |
T |
A |
5: 8,863,693 (GRCm39) |
V216D |
probably damaging |
Het |
Adap2 |
T |
A |
11: 80,068,089 (GRCm39) |
L367H |
probably damaging |
Het |
Adcy7 |
T |
A |
8: 89,042,120 (GRCm39) |
M373K |
probably damaging |
Het |
Arhgap31 |
A |
G |
16: 38,429,354 (GRCm39) |
L507P |
probably damaging |
Het |
Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
Cacna1b |
T |
C |
2: 24,521,953 (GRCm39) |
D1718G |
probably damaging |
Het |
Cacna2d1 |
A |
C |
5: 16,507,292 (GRCm39) |
Y347S |
probably benign |
Het |
Carf |
C |
A |
1: 60,167,161 (GRCm39) |
P165T |
probably benign |
Het |
Cplx3 |
T |
C |
9: 57,523,359 (GRCm39) |
E66G |
probably damaging |
Het |
Dnaaf5 |
A |
G |
5: 139,151,917 (GRCm39) |
T523A |
probably benign |
Het |
Dnajc10 |
T |
C |
2: 80,161,739 (GRCm39) |
S326P |
probably benign |
Het |
Eif4enif1 |
A |
T |
11: 3,184,464 (GRCm39) |
E528D |
probably damaging |
Het |
Elp2 |
G |
A |
18: 24,755,187 (GRCm39) |
D392N |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,482,577 (GRCm39) |
S3079P |
probably damaging |
Het |
Fat1 |
G |
T |
8: 45,490,244 (GRCm39) |
V3719F |
probably damaging |
Het |
Fat3 |
T |
A |
9: 15,917,897 (GRCm39) |
S1509C |
possibly damaging |
Het |
Fcsk |
A |
G |
8: 111,614,064 (GRCm39) |
V693A |
probably benign |
Het |
Frmpd4 |
C |
T |
X: 166,512,030 (GRCm39) |
R8H |
possibly damaging |
Het |
Glud1 |
T |
A |
14: 34,058,129 (GRCm39) |
I380N |
probably damaging |
Het |
Gnl2 |
A |
G |
4: 124,940,099 (GRCm39) |
S324G |
probably damaging |
Het |
Gramd1b |
C |
T |
9: 40,366,752 (GRCm39) |
G72D |
probably benign |
Het |
Gramd2b |
A |
T |
18: 56,622,735 (GRCm39) |
E299V |
probably damaging |
Het |
Grin1 |
C |
T |
2: 25,187,864 (GRCm39) |
R544H |
probably damaging |
Het |
Ifitm7 |
A |
T |
16: 13,801,471 (GRCm39) |
V96E |
probably damaging |
Het |
Lsm14b |
T |
A |
2: 179,674,336 (GRCm39) |
M293K |
probably benign |
Het |
Marf1 |
T |
A |
16: 13,946,432 (GRCm39) |
T1230S |
probably benign |
Het |
Morc2b |
T |
A |
17: 33,355,042 (GRCm39) |
H910L |
probably benign |
Het |
Mylip |
A |
G |
13: 45,560,110 (GRCm39) |
N247S |
possibly damaging |
Het |
Or4a73 |
T |
C |
2: 89,420,572 (GRCm39) |
M296V |
probably benign |
Het |
Osbpl3 |
T |
C |
6: 50,323,068 (GRCm39) |
S264G |
probably benign |
Het |
Pds5b |
C |
T |
5: 150,701,774 (GRCm39) |
R802W |
probably damaging |
Het |
Pik3cg |
T |
C |
12: 32,255,864 (GRCm39) |
E41G |
probably damaging |
Het |
Plk3 |
A |
G |
4: 116,990,489 (GRCm39) |
I112T |
probably damaging |
Het |
Pwp2 |
A |
G |
10: 78,020,921 (GRCm39) |
M1T |
probably null |
Het |
Rtel1 |
T |
C |
2: 180,988,683 (GRCm39) |
I417T |
probably benign |
Het |
Sirt1 |
A |
T |
10: 63,157,565 (GRCm39) |
N616K |
probably benign |
Het |
Sirt6 |
T |
C |
10: 81,458,252 (GRCm39) |
S334G |
possibly damaging |
Het |
Strc |
T |
C |
2: 121,205,788 (GRCm39) |
Y827C |
probably damaging |
Het |
Taf1b |
T |
C |
12: 24,597,594 (GRCm39) |
Y385H |
possibly damaging |
Het |
Tgm5 |
T |
C |
2: 120,902,066 (GRCm39) |
E201G |
possibly damaging |
Het |
Thbd |
G |
C |
2: 148,249,003 (GRCm39) |
N288K |
probably benign |
Het |
Ush2a |
T |
A |
1: 188,169,064 (GRCm39) |
N1068K |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,904,756 (GRCm39) |
E361G |
possibly damaging |
Het |
Vps13d |
T |
C |
4: 144,835,158 (GRCm39) |
N2736S |
|
Het |
Vwa5b1 |
A |
G |
4: 138,327,574 (GRCm39) |
L334P |
probably damaging |
Het |
Zan |
A |
G |
5: 137,398,355 (GRCm39) |
S4226P |
unknown |
Het |
Zdhhc24 |
T |
C |
19: 4,928,778 (GRCm39) |
M1T |
probably null |
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 |
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 |
R4157:Nup50l
|
UTSW |
6 |
96,142,264 (GRCm39) |
missense |
possibly damaging |
0.86 |
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'- GTTGCTTTTCGATGGCAGCC -3'
(R):5'- TCCAAAGGGATTAAAAGTTTGGCTG -3'
Sequencing Primer
(F):5'- CGATGGCAGCCAAGTATTTC -3'
(R):5'- TGTGCCTTCCGGGAGAG -3'
|
Posted On |
2019-06-07 |