Incidental Mutation 'R8351:Nup50l'
ID |
660483 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup50l
|
Ensembl Gene |
ENSMUSG00000072878 |
Gene Name |
nucleoporin 50 like |
Synonyms |
1700123L14Rik |
MMRRC Submission |
067804-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.229)
|
Stock # |
R8351 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
96141484-96143186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 96142655 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 130
(S130A)
|
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: S130A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000087515 Gene: ENSMUSG00000072878 AA Change: S130A
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 |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (41/41) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agpat3 |
A |
T |
10: 78,110,086 (GRCm39) |
Y288N |
probably damaging |
Het |
Ano5 |
A |
G |
7: 51,203,626 (GRCm39) |
K225E |
probably benign |
Het |
Apob |
A |
G |
12: 8,056,356 (GRCm39) |
T1613A |
probably benign |
Het |
Ascc3 |
A |
G |
10: 50,725,693 (GRCm39) |
T2139A |
probably benign |
Het |
Asnsd1 |
A |
T |
1: 53,386,172 (GRCm39) |
|
probably null |
Het |
Atp23 |
C |
T |
10: 126,723,407 (GRCm39) |
A232T |
probably damaging |
Het |
Cd8b1 |
G |
A |
6: 71,306,777 (GRCm39) |
|
probably null |
Het |
Cep295 |
G |
A |
9: 15,234,202 (GRCm39) |
T2198I |
probably damaging |
Het |
Col12a1 |
G |
T |
9: 79,588,694 (GRCm39) |
N1140K |
probably damaging |
Het |
Cyp2f2 |
A |
G |
7: 26,821,294 (GRCm39) |
Y69C |
probably damaging |
Het |
Ep400 |
C |
T |
5: 110,887,200 (GRCm39) |
A628T |
probably damaging |
Het |
Faxc |
A |
T |
4: 21,932,046 (GRCm39) |
|
probably null |
Het |
Fpr3 |
T |
C |
17: 18,191,436 (GRCm39) |
S236P |
probably benign |
Het |
Fsip2 |
T |
C |
2: 82,822,239 (GRCm39) |
S5991P |
possibly damaging |
Het |
Gm3099 |
A |
T |
14: 15,345,347 (GRCm39) |
N58Y |
probably damaging |
Het |
Gmps |
T |
C |
3: 63,887,615 (GRCm39) |
V29A |
probably benign |
Het |
Gnptab |
T |
G |
10: 88,250,348 (GRCm39) |
D153E |
probably benign |
Het |
Kcnh6 |
A |
G |
11: 105,911,062 (GRCm39) |
H486R |
probably damaging |
Het |
Lama3 |
T |
C |
18: 12,673,670 (GRCm39) |
Y2571H |
probably damaging |
Het |
Lama5 |
C |
T |
2: 179,837,401 (GRCm39) |
V995M |
probably damaging |
Het |
Lrrc43 |
A |
G |
5: 123,632,328 (GRCm39) |
N157S |
probably damaging |
Het |
Mbtps1 |
G |
A |
8: 120,272,923 (GRCm39) |
S74L |
probably benign |
Het |
Muc16 |
A |
T |
9: 18,571,181 (GRCm39) |
V446D |
unknown |
Het |
Ncapg2 |
T |
C |
12: 116,403,647 (GRCm39) |
V853A |
possibly damaging |
Het |
Nkx2-6 |
T |
C |
14: 69,409,476 (GRCm39) |
S76P |
probably benign |
Het |
Nuak1 |
T |
C |
10: 84,229,981 (GRCm39) |
I131V |
probably damaging |
Het |
Oas1e |
A |
T |
5: 120,925,008 (GRCm39) |
|
probably null |
Het |
Or1n2 |
T |
C |
2: 36,797,149 (GRCm39) |
F64L |
probably benign |
Het |
Pde5a |
T |
C |
3: 122,542,128 (GRCm39) |
|
probably null |
Het |
Plin4 |
T |
C |
17: 56,413,861 (GRCm39) |
T255A |
probably benign |
Het |
Pygm |
A |
G |
19: 6,438,117 (GRCm39) |
T141A |
possibly damaging |
Het |
Rps2 |
T |
A |
17: 24,939,334 (GRCm39) |
|
probably benign |
Het |
Rptor |
A |
G |
11: 119,783,465 (GRCm39) |
D1153G |
probably benign |
Het |
Ryr2 |
A |
G |
13: 11,814,718 (GRCm39) |
F685L |
probably damaging |
Het |
Slc22a17 |
A |
G |
14: 55,146,051 (GRCm39) |
I356T |
probably benign |
Het |
Slc29a4 |
T |
G |
5: 142,703,584 (GRCm39) |
I286S |
probably benign |
Het |
Swap70 |
T |
C |
7: 109,821,105 (GRCm39) |
S30P |
possibly damaging |
Het |
Tbc1d10c |
A |
G |
19: 4,234,744 (GRCm39) |
F439S |
probably damaging |
Het |
Tbx3 |
T |
A |
5: 119,818,841 (GRCm39) |
L472Q |
probably damaging |
Het |
Tbxas1 |
A |
G |
6: 39,004,850 (GRCm39) |
R366G |
possibly damaging |
Het |
Ttll8 |
T |
C |
15: 88,798,638 (GRCm39) |
D699G |
probably benign |
Het |
Vmn1r128 |
A |
T |
7: 21,083,597 (GRCm39) |
R100S |
probably damaging |
Het |
Wdpcp |
A |
G |
11: 21,698,931 (GRCm39) |
D570G |
probably damaging |
Het |
Znfx1 |
A |
G |
2: 166,897,575 (GRCm39) |
S450P |
probably 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 |
|
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 |
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'- AGTTGCTTTTCGATGGCAGC -3'
(R):5'- CCAAAGGGATTAAAAGTTTGGCTG -3'
Sequencing Primer
(F):5'- CGATGGCAGCCAAGTATTTC -3'
(R):5'- CCTTCCGGGAGAGGAGAATTTAG -3'
|
Posted On |
2021-01-18 |