Incidental Mutation 'R3124:Tnpo1'
ID |
264208 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnpo1
|
Ensembl Gene |
ENSMUSG00000009470 |
Gene Name |
transportin 1 |
Synonyms |
D13Ertd688e, Kpnb2 |
MMRRC Submission |
040597-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
R3124 (G1)
|
Quality Score |
138 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
98975527-99062892 bp(-) (GRCm39) |
Type of Mutation |
frame shift |
DNA Base Change (assembly) |
GCACCTCTGCTTCCTC to GCACCTCTGCTTCCTCACCTCTGCTTCCTC
at 99003637 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000136917
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109399]
[ENSMUST00000109401]
[ENSMUST00000179301]
|
AlphaFold |
Q8BFY9 |
Predicted Effect |
probably null
Transcript: ENSMUST00000109399
|
SMART Domains |
Protein: ENSMUSP00000105026 Gene: ENSMUSG00000009470
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 null
Transcript: ENSMUST00000109401
AA Change: 241
|
SMART Domains |
Protein: ENSMUSP00000105028 Gene: ENSMUSG00000009470 AA Change: 241
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 |
probably null
Transcript: ENSMUST00000179301
|
SMART Domains |
Protein: ENSMUSP00000136917 Gene: ENSMUSG00000009470
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
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (40/40) |
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd16b |
G |
A |
2: 181,136,319 (GRCm39) |
R407H |
possibly damaging |
Het |
Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
Cadm1 |
A |
G |
9: 47,710,775 (GRCm39) |
E226G |
possibly damaging |
Het |
Caskin2 |
T |
C |
11: 115,695,623 (GRCm39) |
D246G |
probably damaging |
Het |
Cd80 |
T |
A |
16: 38,294,255 (GRCm39) |
V46E |
probably damaging |
Het |
Ctr9 |
C |
T |
7: 110,652,653 (GRCm39) |
R984C |
unknown |
Het |
Dach2 |
T |
C |
X: 112,729,664 (GRCm39) |
I417T |
possibly damaging |
Het |
Dcaf8l |
A |
T |
X: 88,448,327 (GRCm39) |
Y601N |
probably benign |
Het |
Drd3 |
T |
C |
16: 43,643,155 (GRCm39) |
F464L |
probably damaging |
Het |
Dyrk1a |
G |
A |
16: 94,469,660 (GRCm39) |
|
probably benign |
Het |
Fam227b |
T |
C |
2: 125,966,006 (GRCm39) |
T140A |
probably benign |
Het |
Fam91a1 |
A |
G |
15: 58,293,738 (GRCm39) |
I101V |
probably benign |
Het |
Fem1b |
T |
C |
9: 62,703,836 (GRCm39) |
I475V |
probably benign |
Het |
Glra3 |
A |
G |
8: 56,578,244 (GRCm39) |
R434G |
possibly damaging |
Het |
Hsd17b12 |
C |
T |
2: 93,864,303 (GRCm39) |
R268Q |
probably benign |
Het |
Iglc3 |
T |
C |
16: 18,884,345 (GRCm39) |
|
probably benign |
Het |
Khdrbs2 |
C |
A |
1: 32,558,858 (GRCm39) |
R408L |
probably damaging |
Het |
Loxhd1 |
A |
G |
18: 77,518,774 (GRCm39) |
D1860G |
probably damaging |
Het |
Mcpt8 |
A |
T |
14: 56,321,398 (GRCm39) |
I22K |
probably damaging |
Het |
Myo1h |
A |
G |
5: 114,466,860 (GRCm39) |
I303V |
probably benign |
Het |
Nipsnap2 |
G |
A |
5: 129,825,098 (GRCm39) |
|
probably null |
Het |
Nop2 |
G |
A |
6: 125,109,164 (GRCm39) |
|
probably benign |
Het |
Polr2a |
A |
T |
11: 69,626,536 (GRCm39) |
S1566T |
possibly damaging |
Het |
Pthlh |
A |
T |
6: 147,164,789 (GRCm39) |
V27E |
probably damaging |
Het |
Ralgps1 |
T |
C |
2: 33,048,968 (GRCm39) |
T314A |
possibly damaging |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Skil |
A |
G |
3: 31,151,487 (GRCm39) |
N3S |
probably benign |
Het |
Tas2r129 |
A |
G |
6: 132,928,411 (GRCm39) |
N116S |
probably damaging |
Het |
Tas2r140 |
T |
A |
6: 133,032,204 (GRCm39) |
I185L |
probably benign |
Het |
Togaram1 |
G |
T |
12: 65,013,118 (GRCm39) |
R123L |
probably damaging |
Het |
Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
Trim12a |
G |
T |
7: 103,950,063 (GRCm39) |
T292K |
probably benign |
Het |
Trim9 |
C |
T |
12: 70,295,167 (GRCm39) |
G648R |
probably damaging |
Het |
Trmt13 |
T |
C |
3: 116,383,893 (GRCm39) |
I104V |
probably benign |
Het |
Vav3 |
G |
A |
3: 109,535,484 (GRCm39) |
|
probably null |
Het |
Vmn1r87 |
A |
G |
7: 12,865,493 (GRCm39) |
Y265H |
probably damaging |
Het |
Zfp574 |
G |
T |
7: 24,781,026 (GRCm39) |
A683S |
possibly damaging |
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 |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATGAGCAAAACCTAGTCTCTATG -3'
(R):5'- CCCCAGATGTGTATGTGCAC -3'
Sequencing Primer
(F):5'- GTTTAAATAATTCCTCCACCGGGCAG -3'
(R):5'- TGTATGTGCACAAAGGAGTTCC -3'
|
Posted On |
2015-02-05 |