Incidental Mutation 'R6790:Nup50l'
ID |
532550 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nup50l
|
Ensembl Gene |
ENSMUSG00000072878 |
Gene Name |
nucleoporin 50 like |
Synonyms |
1700123L14Rik |
MMRRC Submission |
044903-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.274)
|
Stock # |
R6790 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
96141484-96143186 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 96142304 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 247
(T247A)
|
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: T247A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000087515 Gene: ENSMUSG00000072878 AA Change: T247A
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: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.9%
|
Validation Efficiency |
100% (32/32) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap3 |
T |
A |
4: 155,987,448 (GRCm39) |
S457T |
probably damaging |
Het |
Adgrf3 |
A |
G |
5: 30,401,385 (GRCm39) |
V881A |
probably benign |
Het |
Ankrd65 |
T |
G |
4: 155,877,260 (GRCm39) |
|
probably null |
Het |
Ascc3 |
A |
G |
10: 50,521,808 (GRCm39) |
E441G |
probably damaging |
Het |
Atf5 |
A |
T |
7: 44,462,679 (GRCm39) |
|
probably null |
Het |
Cfap97 |
G |
T |
8: 46,623,113 (GRCm39) |
V168L |
possibly damaging |
Het |
Crh |
T |
G |
3: 19,748,459 (GRCm39) |
E61A |
probably damaging |
Het |
Cx3cr1 |
C |
T |
9: 119,880,833 (GRCm39) |
V190M |
probably damaging |
Het |
Cyp3a59 |
A |
C |
5: 146,033,143 (GRCm39) |
M172L |
probably benign |
Het |
Dnm1 |
T |
C |
2: 32,223,079 (GRCm39) |
K445R |
probably damaging |
Het |
Eng |
C |
A |
2: 32,559,457 (GRCm39) |
T82N |
probably damaging |
Het |
Fkbp15 |
T |
C |
4: 62,222,996 (GRCm39) |
T968A |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,821,283 (GRCm39) |
N5672S |
possibly damaging |
Het |
Gm21149 |
A |
C |
5: 15,677,103 (GRCm39) |
D250E |
unknown |
Het |
Gon4l |
A |
G |
3: 88,766,305 (GRCm39) |
E448G |
probably damaging |
Het |
Hrnr |
T |
C |
3: 93,236,382 (GRCm39) |
S2207P |
unknown |
Het |
Itga4 |
C |
A |
2: 79,155,958 (GRCm39) |
H975N |
probably benign |
Het |
Kdm4c |
A |
G |
4: 74,309,698 (GRCm39) |
K954E |
probably damaging |
Het |
Lrrc20 |
G |
T |
10: 61,362,898 (GRCm39) |
V48F |
probably damaging |
Het |
Mga |
A |
G |
2: 119,754,235 (GRCm39) |
I915V |
probably damaging |
Het |
Npc1l1 |
C |
T |
11: 6,164,260 (GRCm39) |
|
probably null |
Het |
Or3a1b |
T |
A |
11: 74,012,427 (GRCm39) |
L104H |
probably damaging |
Het |
Pate13 |
G |
T |
9: 35,820,127 (GRCm39) |
|
probably benign |
Het |
Per2 |
C |
T |
1: 91,373,261 (GRCm39) |
V176I |
probably benign |
Het |
Pira2 |
A |
C |
7: 3,845,442 (GRCm39) |
V314G |
probably damaging |
Het |
Potefam3e |
A |
T |
8: 19,779,801 (GRCm39) |
I14F |
probably benign |
Het |
Rims1 |
T |
C |
1: 22,507,278 (GRCm39) |
D624G |
probably damaging |
Het |
Secisbp2 |
A |
G |
13: 51,824,939 (GRCm39) |
T396A |
probably benign |
Het |
Slc28a3 |
T |
C |
13: 58,730,464 (GRCm39) |
D84G |
probably benign |
Het |
Slc8a3 |
T |
C |
12: 81,361,206 (GRCm39) |
T538A |
probably benign |
Het |
Slk |
T |
A |
19: 47,624,007 (GRCm39) |
C991S |
probably damaging |
Het |
Stmn1 |
T |
C |
4: 134,198,125 (GRCm39) |
L54S |
probably damaging |
Het |
Tuft1 |
C |
G |
3: 94,535,537 (GRCm39) |
E128D |
possibly damaging |
Het |
Ugt8a |
T |
C |
3: 125,665,340 (GRCm39) |
T386A |
possibly damaging |
Het |
Zdhhc20 |
A |
G |
14: 58,127,600 (GRCm39) |
V13A |
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 |
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 |
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'- ATCACTGTTGCCTTGTGCTG -3'
(R):5'- TCTGACGCCGGTGTTTAAG -3'
Sequencing Primer
(F):5'- CTGGACTCTCTAGAGCTTTGGCAG -3'
(R):5'- GAAATACTTGGCTGCCATCG -3'
|
Posted On |
2018-08-29 |