Incidental Mutation 'IGL03405:Tnpo1'
| ID |
421557 |
| 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 # |
IGL03405
|
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
A |
G |
11: 119,907,229 (GRCm39) |
V101A |
probably benign |
Het |
| Btbd3 |
G |
A |
2: 138,121,681 (GRCm39) |
M121I |
probably damaging |
Het |
| Caprin1 |
G |
A |
2: 103,609,850 (GRCm39) |
R143C |
probably damaging |
Het |
| Cfap206 |
A |
G |
4: 34,716,445 (GRCm39) |
I340T |
possibly damaging |
Het |
| Chmp6 |
A |
G |
11: 119,806,273 (GRCm39) |
Y33C |
probably damaging |
Het |
| Clstn3 |
T |
C |
6: 124,415,327 (GRCm39) |
D679G |
possibly damaging |
Het |
| Col24a1 |
G |
A |
3: 145,020,918 (GRCm39) |
A430T |
possibly damaging |
Het |
| Commd6 |
A |
T |
14: 101,874,508 (GRCm39) |
V28E |
probably damaging |
Het |
| Eno2 |
T |
A |
6: 124,740,848 (GRCm39) |
Y236F |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,369,397 (GRCm39) |
S415G |
probably benign |
Het |
| Evpl |
A |
G |
11: 116,118,753 (GRCm39) |
I648T |
possibly damaging |
Het |
| Fat1 |
T |
A |
8: 45,478,278 (GRCm39) |
D2441E |
probably damaging |
Het |
| Fat4 |
T |
C |
3: 39,012,599 (GRCm39) |
V2298A |
probably benign |
Het |
| Fbxl8 |
C |
A |
8: 105,994,752 (GRCm39) |
T88K |
probably benign |
Het |
| Ganc |
A |
G |
2: 120,264,247 (GRCm39) |
H400R |
probably damaging |
Het |
| Helb |
G |
A |
10: 119,925,701 (GRCm39) |
T892I |
probably damaging |
Het |
| Jaml |
A |
T |
9: 45,005,107 (GRCm39) |
K124N |
possibly damaging |
Het |
| Llgl2 |
G |
T |
11: 115,741,668 (GRCm39) |
E599D |
probably benign |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,444,377 (GRCm39) |
A244V |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,890,950 (GRCm39) |
K7194R |
unknown |
Het |
| Or2o1 |
A |
G |
11: 49,051,713 (GRCm39) |
|
probably null |
Het |
| Or5m8 |
A |
G |
2: 85,822,230 (GRCm39) |
Q23R |
possibly damaging |
Het |
| Rasgrf2 |
A |
T |
13: 92,044,170 (GRCm39) |
I961N |
probably damaging |
Het |
| Retreg3 |
T |
C |
11: 100,991,795 (GRCm39) |
D46G |
probably damaging |
Het |
| Rtp2 |
A |
C |
16: 23,746,326 (GRCm39) |
S122A |
probably benign |
Het |
| Sbf2 |
T |
A |
7: 110,062,139 (GRCm39) |
D146V |
probably damaging |
Het |
| Slc39a13 |
A |
G |
2: 90,893,448 (GRCm39) |
V324A |
probably damaging |
Het |
| Sptan1 |
A |
G |
2: 29,915,593 (GRCm39) |
T2013A |
probably damaging |
Het |
| Tnni3k |
A |
G |
3: 154,498,404 (GRCm39) |
|
probably benign |
Het |
| Trpm2 |
G |
A |
10: 77,801,906 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,539,276 (GRCm39) |
L34570P |
possibly damaging |
Het |
| Vmn2r100 |
T |
C |
17: 19,752,186 (GRCm39) |
V806A |
probably damaging |
Het |
| Wdr70 |
A |
G |
15: 8,065,352 (GRCm39) |
S237P |
possibly damaging |
Het |
| Wnk1 |
T |
C |
6: 119,930,856 (GRCm39) |
N896S |
probably benign |
Het |
| Zan |
T |
A |
5: 137,422,859 (GRCm39) |
D2718V |
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 |
|
IGL03379: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 |
|
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 |
Incidental Mutation