Incidental Mutation 'R6792:Nup50l'
| ID |
532642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup50l
|
| Ensembl Gene |
ENSMUSG00000072878 |
| Gene Name |
nucleoporin 50 like |
| Synonyms |
1700123L14Rik |
| MMRRC Submission |
044905-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R6792 (G1)
|
| Quality Score |
148.008 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
96141484-96143186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96142096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 316
(E316G)
|
| 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: E316G
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: E316G
| 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: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.7%
|
| Validation Efficiency |
98% (51/52) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
A |
6: 128,523,292 (GRCm39) |
Q1215* |
probably null |
Het |
| Aldh2 |
C |
T |
5: 121,718,712 (GRCm39) |
G64R |
probably damaging |
Het |
| Atp11a |
G |
A |
8: 12,911,939 (GRCm39) |
|
probably benign |
Het |
| Bcl11b |
T |
C |
12: 107,955,993 (GRCm39) |
D52G |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,065,715 (GRCm39) |
|
probably null |
Het |
| Capg |
T |
A |
6: 72,532,537 (GRCm39) |
I34K |
possibly damaging |
Het |
| Card11 |
T |
A |
5: 140,899,064 (GRCm39) |
I37F |
probably damaging |
Het |
| Col27a1 |
G |
T |
4: 63,235,740 (GRCm39) |
R724L |
unknown |
Het |
| Cryl1 |
T |
C |
14: 57,620,224 (GRCm39) |
E47G |
probably damaging |
Het |
| Dgkb |
A |
T |
12: 38,150,424 (GRCm39) |
D70V |
possibly damaging |
Het |
| Dscam |
T |
C |
16: 96,394,455 (GRCm39) |
E1949G |
probably damaging |
Het |
| Dscam |
A |
G |
16: 96,449,437 (GRCm39) |
V1387A |
probably damaging |
Het |
| Exph5 |
G |
A |
9: 53,286,617 (GRCm39) |
V1233M |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 16,286,940 (GRCm39) |
V861E |
probably damaging |
Het |
| Fgfr4 |
T |
G |
13: 55,304,711 (GRCm39) |
D184E |
possibly damaging |
Het |
| Fkbp14 |
G |
T |
6: 54,562,837 (GRCm39) |
S49* |
probably null |
Het |
| Ginm1 |
T |
C |
10: 7,649,747 (GRCm39) |
D182G |
probably damaging |
Het |
| Gk2 |
T |
C |
5: 97,603,588 (GRCm39) |
I417V |
probably benign |
Het |
| Kmt2e |
TGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCACCGCCGCCGCCGC |
5: 23,704,474 (GRCm39) |
|
probably benign |
Het |
| Malrd1 |
C |
T |
2: 16,155,567 (GRCm39) |
P1992L |
unknown |
Het |
| Mapk6 |
A |
T |
9: 75,302,830 (GRCm39) |
I221N |
probably damaging |
Het |
| Mup9 |
A |
G |
4: 60,377,354 (GRCm39) |
V65A |
possibly damaging |
Het |
| Myo15b |
A |
G |
11: 115,775,923 (GRCm39) |
D805G |
probably damaging |
Het |
| Or52a5b |
A |
G |
7: 103,417,346 (GRCm39) |
I86T |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,283 (GRCm39) |
D296E |
probably benign |
Het |
| Otof |
T |
A |
5: 30,532,978 (GRCm39) |
H1588L |
probably damaging |
Het |
| Pakap |
A |
G |
4: 57,855,880 (GRCm39) |
D403G |
possibly damaging |
Het |
| Pde4a |
A |
G |
9: 21,103,886 (GRCm39) |
K145R |
probably benign |
Het |
| Pik3ap1 |
A |
T |
19: 41,310,065 (GRCm39) |
D418E |
probably benign |
Het |
| Pilrb2 |
C |
A |
5: 137,866,852 (GRCm39) |
R217M |
possibly damaging |
Het |
| Plcb2 |
T |
C |
2: 118,549,922 (GRCm39) |
N232S |
probably damaging |
Het |
| Ppargc1b |
C |
A |
18: 61,440,747 (GRCm39) |
G724W |
probably damaging |
Het |
| Ppp2r5d |
A |
G |
17: 47,015,782 (GRCm39) |
S2P |
probably benign |
Het |
| Prr5l |
T |
G |
2: 101,547,769 (GRCm39) |
N252T |
probably benign |
Het |
| Rbmyf5 |
A |
G |
Y: 3,298,867 (GRCm39) |
Y206H |
possibly damaging |
Homo |
| Rilp |
A |
T |
11: 75,403,601 (GRCm39) |
K348* |
probably null |
Het |
| Slc17a7 |
A |
G |
7: 44,824,299 (GRCm39) |
E505G |
possibly damaging |
Het |
| Slc6a21 |
T |
A |
7: 44,929,309 (GRCm39) |
M1K |
probably null |
Het |
| Sorcs1 |
T |
C |
19: 50,666,606 (GRCm39) |
T101A |
probably benign |
Het |
| Sorl1 |
A |
T |
9: 42,010,559 (GRCm39) |
V137E |
probably damaging |
Het |
| Stam2 |
T |
C |
2: 52,597,993 (GRCm39) |
I270V |
probably benign |
Het |
| Synj2 |
G |
A |
17: 6,040,565 (GRCm39) |
A214T |
probably benign |
Het |
| Tars3 |
G |
T |
7: 65,312,051 (GRCm39) |
C321F |
probably damaging |
Het |
| Tcea1 |
T |
A |
1: 4,962,268 (GRCm39) |
D229E |
probably benign |
Het |
| Tdrd9 |
C |
T |
12: 111,993,547 (GRCm39) |
R692W |
probably benign |
Het |
| Tkfc |
T |
C |
19: 10,571,888 (GRCm39) |
T383A |
probably benign |
Het |
| Traf1 |
T |
C |
2: 34,846,287 (GRCm39) |
D43G |
probably benign |
Het |
| Tubgcp6 |
C |
T |
15: 89,007,080 (GRCm39) |
|
probably benign |
Het |
| Vit |
A |
T |
17: 78,886,828 (GRCm39) |
Y152F |
probably damaging |
Het |
| Vmn1r66 |
A |
T |
7: 10,008,412 (GRCm39) |
M207K |
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 |
|
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 |
|
|
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'- AACATGGCATATCGGGTGGG -3'
(R):5'- AACACTGAAACCCCGGCTTG -3'
Sequencing Primer
(F):5'- CAGGAGTATGCTGCCTAACTTAG -3'
(R):5'- TGGGGTTCCCTCAACTCTGG -3'
|
| Posted On |
2018-08-29 |
Incidental Mutation