Incidental Mutation 'IGL01656:Nup50l'
| ID |
102996 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nup50l
|
| Ensembl Gene |
ENSMUSG00000072878 |
| Gene Name |
nucleoporin 50 like |
| Synonyms |
1700123L14Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
IGL01656
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
96141484-96143186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 96142675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 123
(V123A)
|
| 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: V123A
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: V123A
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acrbp |
A |
C |
6: 125,030,675 (GRCm39) |
E232A |
possibly damaging |
Het |
| Anapc11 |
T |
A |
11: 120,490,173 (GRCm39) |
F30I |
possibly damaging |
Het |
| Ap5z1 |
A |
G |
5: 142,456,069 (GRCm39) |
D318G |
probably benign |
Het |
| Cfap43 |
T |
C |
19: 47,740,339 (GRCm39) |
E1278G |
possibly damaging |
Het |
| Cylc1 |
A |
G |
X: 110,167,485 (GRCm39) |
T589A |
probably benign |
Het |
| Dcaf15 |
T |
C |
8: 84,824,617 (GRCm39) |
I527V |
probably benign |
Het |
| Ddhd2 |
C |
T |
8: 26,217,739 (GRCm39) |
V713I |
probably benign |
Het |
| Edc4 |
T |
C |
8: 106,613,009 (GRCm39) |
V283A |
possibly damaging |
Het |
| Elf5 |
A |
G |
2: 103,273,206 (GRCm39) |
|
probably benign |
Het |
| Flnb |
C |
T |
14: 7,902,010 (GRCm38) |
|
probably benign |
Het |
| Flnc |
C |
T |
6: 29,443,507 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,891,201 (GRCm39) |
L113P |
probably damaging |
Het |
| Gemin4 |
C |
T |
11: 76,104,636 (GRCm39) |
V42M |
probably damaging |
Het |
| Gm10076 |
A |
G |
14: 105,919,354 (GRCm39) |
|
noncoding transcript |
Het |
| Grina |
A |
G |
15: 76,132,501 (GRCm39) |
Y116C |
probably damaging |
Het |
| Hectd4 |
T |
A |
5: 121,460,763 (GRCm39) |
L914H |
probably damaging |
Het |
| Il17re |
T |
C |
6: 113,439,934 (GRCm39) |
|
probably benign |
Het |
| Ivl |
G |
A |
3: 92,478,962 (GRCm39) |
Q368* |
probably null |
Het |
| Kbtbd8 |
A |
G |
6: 95,095,657 (GRCm39) |
H73R |
probably benign |
Het |
| Krt90 |
T |
A |
15: 101,463,878 (GRCm39) |
Q392L |
probably damaging |
Het |
| Magea3 |
A |
T |
X: 153,732,137 (GRCm39) |
M122K |
probably damaging |
Het |
| Mapk8ip3 |
T |
C |
17: 25,137,003 (GRCm39) |
D237G |
probably damaging |
Het |
| Nln |
T |
C |
13: 104,198,249 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
C |
7: 10,098,074 (GRCm39) |
Y853C |
noncoding transcript |
Het |
| Nol11 |
T |
C |
11: 107,079,998 (GRCm39) |
D29G |
probably benign |
Het |
| Nr3c2 |
C |
T |
8: 77,914,166 (GRCm39) |
L791F |
probably damaging |
Het |
| Olfm3 |
T |
C |
3: 114,916,282 (GRCm39) |
Y385H |
probably damaging |
Het |
| Or14j5 |
C |
T |
17: 38,162,029 (GRCm39) |
P182L |
possibly damaging |
Het |
| Or51a8 |
A |
G |
7: 102,550,472 (GRCm39) |
I299M |
possibly damaging |
Het |
| Or5b119 |
G |
A |
19: 13,457,454 (GRCm39) |
A36V |
probably benign |
Het |
| Pklr |
G |
T |
3: 89,052,302 (GRCm39) |
G505C |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,472,469 (GRCm39) |
E1071G |
possibly damaging |
Het |
| Prkcq |
G |
T |
2: 11,231,766 (GRCm39) |
A30S |
probably damaging |
Het |
| Rilpl1 |
A |
G |
5: 124,641,712 (GRCm39) |
F104L |
probably damaging |
Het |
| Rsph6a |
C |
T |
7: 18,788,770 (GRCm39) |
T34I |
probably benign |
Het |
| Sec23ip |
C |
T |
7: 128,351,969 (GRCm39) |
P12L |
probably damaging |
Het |
| Slc25a21 |
A |
C |
12: 56,785,280 (GRCm39) |
V199G |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,998,977 (GRCm39) |
E483G |
probably damaging |
Het |
| Sucnr1 |
T |
C |
3: 59,993,832 (GRCm39) |
M120T |
possibly damaging |
Het |
| Tas2r116 |
T |
C |
6: 132,832,396 (GRCm39) |
|
probably benign |
Het |
| Tbrg4 |
T |
A |
11: 6,568,522 (GRCm39) |
Q419L |
possibly damaging |
Het |
| Tc2n |
A |
G |
12: 101,615,348 (GRCm39) |
|
probably benign |
Het |
| Tgfbr2 |
A |
C |
9: 115,938,737 (GRCm39) |
S388R |
probably damaging |
Het |
| Vmn2r1 |
A |
G |
3: 63,989,274 (GRCm39) |
E71G |
probably damaging |
Het |
| Xpc |
A |
T |
6: 91,482,449 (GRCm39) |
I176K |
probably damaging |
Het |
| Xylt1 |
G |
T |
7: 117,148,228 (GRCm39) |
R264L |
probably damaging |
Het |
|
| Other mutations in Nup50l |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2014-01-21 |
Incidental Mutation