Incidental Mutation 'R4285:Nup50l'
| ID |
322026 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nup50l
|
| Ensembl Gene |
ENSMUSG00000072878 |
| Gene Name |
nucleoporin 50 like |
| Synonyms |
1700123L14Rik |
| MMRRC Submission |
041080-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R4285 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
96141484-96143186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96142733 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 104
(T104A)
|
| 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: T104A
PolyPhen 2
Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000087515
Gene: ENSMUSG00000072878
AA Change: T104A
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
98% (42/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
G |
A |
3: 116,545,827 (GRCm39) |
S1323L |
possibly damaging |
Het |
| Ahnak |
T |
A |
19: 8,994,203 (GRCm39) |
C5162* |
probably null |
Het |
| Carmil3 |
GGACGA |
GGA |
14: 55,736,933 (GRCm39) |
|
probably benign |
Het |
| Cfap73 |
T |
C |
5: 120,770,654 (GRCm39) |
K39E |
possibly damaging |
Het |
| Coq6 |
C |
T |
12: 84,417,178 (GRCm39) |
|
probably benign |
Het |
| Dlc1 |
C |
T |
8: 37,041,282 (GRCm39) |
E1316K |
possibly damaging |
Het |
| Dscam |
A |
G |
16: 96,510,309 (GRCm39) |
|
probably null |
Het |
| Eya2 |
T |
A |
2: 165,566,700 (GRCm39) |
N250K |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,320 (GRCm39) |
I738V |
probably benign |
Het |
| Gria2 |
T |
G |
3: 80,614,969 (GRCm39) |
|
probably benign |
Het |
| Hnrnph3 |
A |
T |
10: 62,852,247 (GRCm39) |
D238E |
probably damaging |
Het |
| Il1rn |
T |
C |
2: 24,239,557 (GRCm39) |
L151P |
probably damaging |
Het |
| Kctd19 |
G |
A |
8: 106,109,581 (GRCm39) |
|
probably benign |
Het |
| Kdm1a |
T |
C |
4: 136,309,347 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lamc1 |
C |
A |
1: 153,110,298 (GRCm39) |
G1126W |
probably damaging |
Het |
| Magi3 |
C |
A |
3: 103,923,184 (GRCm39) |
G1178* |
probably null |
Het |
| Man2a2 |
T |
C |
7: 80,018,367 (GRCm39) |
D141G |
probably damaging |
Het |
| Map2k1 |
C |
A |
9: 64,119,925 (GRCm39) |
V127L |
probably damaging |
Het |
| Memo1 |
T |
C |
17: 74,562,293 (GRCm39) |
|
probably null |
Het |
| Mxd3 |
A |
G |
13: 55,477,167 (GRCm39) |
S31P |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,847,920 (GRCm39) |
E1053K |
probably benign |
Het |
| Or2m12 |
A |
C |
16: 19,104,714 (GRCm39) |
F260V |
probably damaging |
Het |
| Or51a5 |
G |
T |
7: 102,771,867 (GRCm39) |
Y37* |
probably null |
Het |
| Pex5l |
A |
G |
3: 33,061,336 (GRCm39) |
I171T |
probably damaging |
Het |
| Plag1 |
A |
G |
4: 3,905,654 (GRCm39) |
V12A |
probably benign |
Het |
| Podn |
C |
A |
4: 107,878,893 (GRCm39) |
V180L |
possibly damaging |
Het |
| Prox2 |
T |
A |
12: 85,141,698 (GRCm39) |
R168S |
probably benign |
Het |
| Prss29 |
A |
G |
17: 25,541,231 (GRCm39) |
Y225C |
probably damaging |
Het |
| Rassf2 |
G |
A |
2: 131,847,314 (GRCm39) |
T97I |
probably benign |
Het |
| Samm50 |
T |
C |
15: 84,081,213 (GRCm39) |
V47A |
probably damaging |
Het |
| Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
| Slc20a2 |
G |
A |
8: 23,051,365 (GRCm39) |
R466Q |
probably benign |
Het |
| Slc25a51 |
C |
T |
4: 45,399,768 (GRCm39) |
V141M |
probably benign |
Het |
| St6galnac3 |
A |
C |
3: 152,912,360 (GRCm39) |
V161G |
probably benign |
Het |
| Unc5c |
T |
C |
3: 141,420,435 (GRCm39) |
I52T |
probably damaging |
Het |
| Vat1l |
A |
G |
8: 114,932,523 (GRCm39) |
E23G |
probably damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,356,030 (GRCm39) |
T566A |
probably benign |
Het |
| Wls |
A |
T |
3: 159,639,902 (GRCm39) |
H511L |
probably benign |
Het |
| Zfp644 |
G |
A |
5: 106,782,984 (GRCm39) |
T1130I |
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 |
|
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'- GATTGGCGTTCACGTGCTTC -3'
(R):5'- GACGTCCTGAGGAATAGAACC -3'
Sequencing Primer
(F):5'- TCACTATCCAGTCTCGGACAG -3'
(R):5'- AGCCAAGCGGAGACATGCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation