Incidental Mutation 'IGL03379:Tnpo1'
ID |
420602 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tnpo1
|
Ensembl Gene |
ENSMUSG00000009470 |
Gene Name |
transportin 1 |
Synonyms |
D13Ertd688e, Kpnb2 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
IGL03379
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
98975527-99062892 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 99000348 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Lysine
at position 340
(E340K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105028
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109399]
[ENSMUST00000109401]
[ENSMUST00000179301]
|
AlphaFold |
Q8BFY9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109399
AA Change: E332K
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000105026 Gene: ENSMUSG00000009470 AA Change: E332K
Domain | Start | End | E-Value | Type |
IBN_N
|
33 |
101 |
1.53e-6 |
SMART |
low complexity region
|
350 |
368 |
N/A |
INTRINSIC |
low complexity region
|
393 |
410 |
N/A |
INTRINSIC |
Pfam:HEAT_EZ
|
411 |
465 |
4.7e-12 |
PFAM |
Pfam:HEAT
|
439 |
469 |
6.8e-5 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000109401
AA Change: E340K
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000105028 Gene: ENSMUSG00000009470 AA Change: E340K
Domain | Start | End | E-Value | Type |
IBN_N
|
41 |
109 |
1.53e-6 |
SMART |
low complexity region
|
358 |
376 |
N/A |
INTRINSIC |
low complexity region
|
401 |
418 |
N/A |
INTRINSIC |
Pfam:HEAT_EZ
|
419 |
473 |
6.6e-15 |
PFAM |
Pfam:HEAT
|
447 |
477 |
1.3e-5 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000179301
AA Change: E332K
PolyPhen 2
Score 0.453 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000136917 Gene: ENSMUSG00000009470 AA Change: E332K
Domain | Start | End | E-Value | Type |
IBN_N
|
33 |
101 |
1.53e-6 |
SMART |
low complexity region
|
350 |
368 |
N/A |
INTRINSIC |
low complexity region
|
393 |
410 |
N/A |
INTRINSIC |
Pfam:HEAT_EZ
|
411 |
465 |
4.2e-12 |
PFAM |
Pfam:HEAT
|
439 |
469 |
6.1e-5 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224022
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224099
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the beta subunit of the karyopherin receptor complex which interacts with nuclear localization signals to target nuclear proteins to the nucleus. The karyopherin receptor complex is a heterodimer of an alpha subunit which recognizes the nuclear localization signal and a beta subunit which docks the complex at nucleoporins. Alternate splicing of this gene results in two transcript variants encoding different proteins. [provided by RefSeq, Jul 2008]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
A |
G |
10: 69,809,602 (GRCm39) |
T260A |
probably damaging |
Het |
Arhgap21 |
A |
G |
2: 20,885,500 (GRCm39) |
V559A |
probably benign |
Het |
Arrdc5 |
G |
A |
17: 56,601,589 (GRCm39) |
Q179* |
probably null |
Het |
Atrnl1 |
T |
C |
19: 57,630,973 (GRCm39) |
Y247H |
probably benign |
Het |
Bend5 |
T |
A |
4: 111,311,468 (GRCm39) |
S361T |
probably benign |
Het |
Cdc20b |
A |
G |
13: 113,217,736 (GRCm39) |
D385G |
probably damaging |
Het |
Cep120 |
C |
T |
18: 53,842,208 (GRCm39) |
S709N |
probably benign |
Het |
Eif2b4 |
A |
G |
5: 31,347,355 (GRCm39) |
|
probably benign |
Het |
Eif2s1 |
T |
A |
12: 78,913,354 (GRCm39) |
D18E |
probably benign |
Het |
Etl4 |
G |
A |
2: 20,666,827 (GRCm39) |
S209N |
possibly damaging |
Het |
Farp2 |
T |
A |
1: 93,535,160 (GRCm39) |
F636L |
probably benign |
Het |
Fcgbp |
A |
T |
7: 27,789,342 (GRCm39) |
D636V |
possibly damaging |
Het |
Gm5082 |
T |
C |
13: 41,809,902 (GRCm39) |
|
noncoding transcript |
Het |
Gtf2ird1 |
C |
T |
5: 134,411,392 (GRCm39) |
G672D |
possibly damaging |
Het |
Heatr3 |
A |
G |
8: 88,876,738 (GRCm39) |
K143R |
probably benign |
Het |
Hrc |
A |
G |
7: 44,986,679 (GRCm39) |
E610G |
probably benign |
Het |
Ica1l |
G |
A |
1: 60,036,780 (GRCm39) |
S337F |
probably benign |
Het |
Ighv1-43 |
T |
C |
12: 114,909,625 (GRCm39) |
Y99C |
probably benign |
Het |
Kcna3 |
T |
A |
3: 106,944,521 (GRCm39) |
F261L |
probably benign |
Het |
Kdm4d |
T |
C |
9: 14,375,139 (GRCm39) |
R240G |
probably damaging |
Het |
Kidins220 |
T |
A |
12: 25,058,447 (GRCm39) |
I620N |
probably damaging |
Het |
Kif5c |
A |
G |
2: 49,591,104 (GRCm39) |
M55V |
probably damaging |
Het |
Oas1a |
A |
T |
5: 121,035,062 (GRCm39) |
L366Q |
possibly damaging |
Het |
Or5p68 |
T |
C |
7: 107,946,196 (GRCm39) |
|
probably benign |
Het |
Pds5b |
T |
C |
5: 150,711,796 (GRCm39) |
V918A |
probably damaging |
Het |
Plcz1 |
G |
A |
6: 139,936,490 (GRCm39) |
L580F |
possibly damaging |
Het |
Prlr |
C |
A |
15: 10,319,403 (GRCm39) |
P147T |
possibly damaging |
Het |
Ptpn18 |
A |
T |
1: 34,509,338 (GRCm39) |
|
probably null |
Het |
Ptprt |
A |
T |
2: 161,397,379 (GRCm39) |
C1109* |
probably null |
Het |
Ralgapa2 |
A |
T |
2: 146,199,907 (GRCm39) |
S1212R |
probably benign |
Het |
Scn2b |
T |
A |
9: 45,037,498 (GRCm39) |
C182S |
probably damaging |
Het |
Slc7a14 |
A |
T |
3: 31,277,664 (GRCm39) |
M647K |
probably damaging |
Het |
Sult2a6 |
G |
A |
7: 13,956,511 (GRCm39) |
T250I |
probably benign |
Het |
Syn3 |
A |
T |
10: 85,900,736 (GRCm39) |
M384K |
possibly damaging |
Het |
Tmem8b |
A |
G |
4: 43,685,561 (GRCm39) |
T596A |
probably benign |
Het |
Vat1l |
A |
T |
8: 115,009,006 (GRCm39) |
I247F |
probably damaging |
Het |
Vmn2r110 |
T |
C |
17: 20,803,906 (GRCm39) |
D223G |
probably damaging |
Het |
Wdr11 |
T |
A |
7: 129,200,847 (GRCm39) |
D99E |
probably damaging |
Het |
Zan |
C |
T |
5: 137,462,477 (GRCm39) |
V901I |
unknown |
Het |
|
Other mutations in Tnpo1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00765:Tnpo1
|
APN |
13 |
98,986,612 (GRCm39) |
splice site |
probably benign |
|
IGL02572:Tnpo1
|
APN |
13 |
98,985,667 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03040:Tnpo1
|
APN |
13 |
98,996,463 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03237:Tnpo1
|
APN |
13 |
99,000,348 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03393:Tnpo1
|
APN |
13 |
99,024,981 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03405:Tnpo1
|
APN |
13 |
99,000,348 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03407:Tnpo1
|
APN |
13 |
99,000,348 (GRCm39) |
missense |
probably damaging |
0.98 |
Domineight
|
UTSW |
13 |
99,003,637 (GRCm39) |
frame shift |
probably null |
|
invert
|
UTSW |
13 |
98,991,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R0308:Tnpo1
|
UTSW |
13 |
98,983,011 (GRCm39) |
missense |
probably damaging |
0.97 |
R0465:Tnpo1
|
UTSW |
13 |
99,021,142 (GRCm39) |
missense |
probably damaging |
0.97 |
R0492:Tnpo1
|
UTSW |
13 |
98,991,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R0707:Tnpo1
|
UTSW |
13 |
98,991,954 (GRCm39) |
missense |
probably damaging |
1.00 |
R0732:Tnpo1
|
UTSW |
13 |
99,000,320 (GRCm39) |
missense |
probably damaging |
0.99 |
R1314:Tnpo1
|
UTSW |
13 |
98,997,230 (GRCm39) |
missense |
probably damaging |
0.99 |
R1449:Tnpo1
|
UTSW |
13 |
99,015,220 (GRCm39) |
missense |
probably damaging |
0.99 |
R1468:Tnpo1
|
UTSW |
13 |
98,986,665 (GRCm39) |
missense |
probably benign |
0.25 |
R1468:Tnpo1
|
UTSW |
13 |
98,986,665 (GRCm39) |
missense |
probably benign |
0.25 |
R1488:Tnpo1
|
UTSW |
13 |
98,993,415 (GRCm39) |
missense |
probably damaging |
0.98 |
R1961:Tnpo1
|
UTSW |
13 |
98,989,440 (GRCm39) |
missense |
probably damaging |
1.00 |
R3123:Tnpo1
|
UTSW |
13 |
99,003,637 (GRCm39) |
frame shift |
probably null |
|
R3124:Tnpo1
|
UTSW |
13 |
99,003,637 (GRCm39) |
frame shift |
probably null |
|
R4151:Tnpo1
|
UTSW |
13 |
98,989,407 (GRCm39) |
missense |
probably damaging |
1.00 |
R4272:Tnpo1
|
UTSW |
13 |
99,003,637 (GRCm39) |
frame shift |
probably null |
|
R4274:Tnpo1
|
UTSW |
13 |
99,003,637 (GRCm39) |
frame shift |
probably null |
|
R5154:Tnpo1
|
UTSW |
13 |
99,006,813 (GRCm39) |
missense |
possibly damaging |
0.84 |
R5763:Tnpo1
|
UTSW |
13 |
98,996,445 (GRCm39) |
missense |
possibly damaging |
0.54 |
R5765:Tnpo1
|
UTSW |
13 |
98,996,349 (GRCm39) |
missense |
probably benign |
0.08 |
R5827:Tnpo1
|
UTSW |
13 |
98,993,416 (GRCm39) |
missense |
probably damaging |
1.00 |
R6240:Tnpo1
|
UTSW |
13 |
99,000,337 (GRCm39) |
missense |
probably damaging |
1.00 |
R6279:Tnpo1
|
UTSW |
13 |
99,027,216 (GRCm39) |
missense |
possibly damaging |
0.90 |
R6294:Tnpo1
|
UTSW |
13 |
99,027,282 (GRCm39) |
missense |
probably benign |
0.03 |
R7055:Tnpo1
|
UTSW |
13 |
98,991,987 (GRCm39) |
missense |
possibly damaging |
0.85 |
R7509:Tnpo1
|
UTSW |
13 |
99,006,751 (GRCm39) |
missense |
probably benign |
0.00 |
R7707:Tnpo1
|
UTSW |
13 |
99,027,295 (GRCm39) |
missense |
probably benign |
0.00 |
R8314:Tnpo1
|
UTSW |
13 |
99,021,133 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8730:Tnpo1
|
UTSW |
13 |
98,989,916 (GRCm39) |
missense |
probably benign |
0.00 |
R9488:Tnpo1
|
UTSW |
13 |
98,990,003 (GRCm39) |
missense |
probably damaging |
1.00 |
R9511:Tnpo1
|
UTSW |
13 |
99,003,621 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Tnpo1
|
UTSW |
13 |
98,997,178 (GRCm39) |
missense |
probably benign |
0.02 |
|
Posted On |
2016-08-02 |