Incidental Mutation 'R3708:Nup50l'
ID |
259438 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup50l
|
Ensembl Gene |
ENSMUSG00000072878 |
Gene Name |
nucleoporin 50 like |
Synonyms |
1700123L14Rik |
MMRRC Submission |
040701-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.229)
|
Stock # |
R3708 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
96141484-96143186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 96142933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 37
(T37I)
|
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: T37I
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000087515 Gene: ENSMUSG00000072878 AA Change: T37I
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 |
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 92.1%
|
Validation Efficiency |
98% (51/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700012B07Rik |
G |
T |
11: 109,684,980 (GRCm39) |
C172* |
probably null |
Het |
Abcc5 |
G |
T |
16: 20,190,930 (GRCm39) |
Q807K |
probably benign |
Het |
Amfr |
T |
C |
8: 94,709,948 (GRCm39) |
H419R |
probably benign |
Het |
Atp8b2 |
A |
T |
3: 89,852,459 (GRCm39) |
F866I |
probably damaging |
Het |
Atxn7l3 |
G |
A |
11: 102,182,705 (GRCm39) |
|
probably benign |
Het |
Bcs1l |
A |
G |
1: 74,629,264 (GRCm39) |
|
probably benign |
Het |
Card11 |
G |
A |
5: 140,872,890 (GRCm39) |
R608C |
probably damaging |
Het |
Celf2 |
C |
A |
2: 6,629,489 (GRCm39) |
K137N |
probably damaging |
Het |
Cmya5 |
A |
T |
13: 93,231,874 (GRCm39) |
Y1071* |
probably null |
Het |
Cyp2d10 |
A |
G |
15: 82,287,217 (GRCm39) |
F469L |
possibly damaging |
Het |
Cyp3a41a |
A |
G |
5: 145,654,733 (GRCm39) |
|
probably null |
Het |
Dnah8 |
A |
T |
17: 30,958,631 (GRCm39) |
I2158L |
probably damaging |
Het |
Dtnb |
T |
A |
12: 3,639,156 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
T |
C |
12: 110,609,563 (GRCm39) |
F2782L |
probably damaging |
Het |
Ednrb |
A |
G |
14: 104,054,516 (GRCm39) |
Y439H |
probably damaging |
Het |
Ferd3l |
T |
C |
12: 33,978,748 (GRCm39) |
V87A |
probably benign |
Het |
Gphn |
T |
A |
12: 78,579,467 (GRCm39) |
S320T |
probably benign |
Het |
Gpr39 |
C |
T |
1: 125,800,349 (GRCm39) |
H367Y |
probably damaging |
Het |
Hspa4l |
A |
T |
3: 40,736,125 (GRCm39) |
N582I |
possibly damaging |
Het |
Ighv1-85 |
A |
T |
12: 115,963,836 (GRCm39) |
W55R |
probably damaging |
Het |
Lelp1 |
A |
C |
3: 92,042,714 (GRCm39) |
C112G |
unknown |
Het |
Lrba |
A |
G |
3: 86,192,331 (GRCm39) |
M82V |
possibly damaging |
Het |
Macrod2 |
C |
A |
2: 141,652,549 (GRCm39) |
T204K |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,455,714 (GRCm39) |
|
probably benign |
Het |
Ncor1 |
T |
C |
11: 62,235,513 (GRCm39) |
K647R |
probably damaging |
Het |
Nr4a3 |
A |
T |
4: 48,056,699 (GRCm39) |
Y417F |
probably damaging |
Het |
Obox7 |
C |
A |
7: 14,398,122 (GRCm39) |
S54* |
probably null |
Het |
Or2n1c |
A |
G |
17: 38,519,174 (GRCm39) |
I13V |
probably benign |
Het |
Or52r1c |
T |
G |
7: 102,735,501 (GRCm39) |
Y254D |
probably damaging |
Het |
Or8b101 |
T |
C |
9: 38,020,740 (GRCm39) |
S253P |
probably damaging |
Het |
Or9g20 |
T |
A |
2: 85,630,342 (GRCm39) |
I91L |
probably benign |
Het |
Pappa2 |
A |
T |
1: 158,662,488 (GRCm39) |
Y1162* |
probably null |
Het |
Pcdhb19 |
T |
A |
18: 37,630,442 (GRCm39) |
I79K |
probably benign |
Het |
Pi4k2a |
C |
T |
19: 42,079,370 (GRCm39) |
Q144* |
probably null |
Het |
Pigc |
T |
A |
1: 161,798,663 (GRCm39) |
M215K |
probably benign |
Het |
Pnma8a |
T |
A |
7: 16,694,150 (GRCm39) |
S2T |
probably damaging |
Het |
Ppfia4 |
T |
C |
1: 134,237,398 (GRCm39) |
E967G |
probably damaging |
Het |
Ptch1 |
T |
G |
13: 63,672,773 (GRCm39) |
E944A |
probably benign |
Het |
Rims3 |
A |
G |
4: 120,740,352 (GRCm39) |
T100A |
probably damaging |
Het |
Serpinb9 |
A |
T |
13: 33,192,002 (GRCm39) |
N61I |
possibly damaging |
Het |
Sis |
A |
G |
3: 72,850,856 (GRCm39) |
M614T |
probably benign |
Het |
Slc6a17 |
C |
T |
3: 107,400,401 (GRCm39) |
V243I |
probably benign |
Het |
Smad9 |
A |
T |
3: 54,693,602 (GRCm39) |
Y177F |
probably benign |
Het |
Vmn2r69 |
T |
C |
7: 85,061,029 (GRCm39) |
D185G |
probably damaging |
Het |
Vps36 |
G |
T |
8: 22,682,899 (GRCm39) |
V5L |
probably benign |
Het |
Vwa8 |
T |
A |
14: 79,300,136 (GRCm39) |
|
probably benign |
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 |
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'- TTGCAGTAACAGAACCCAAGG -3'
(R):5'- TGCTGACCACCAAATCTCTC -3'
Sequencing Primer
(F):5'- CTTGGGCTCTGCTGCAG -3'
(R):5'- TCTCTCCAGGCTCCCAATAGAG -3'
|
Posted On |
2015-01-23 |