Incidental Mutation 'R4274:Tnpo1'
ID |
324728 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnpo1
|
Ensembl Gene |
ENSMUSG00000009470 |
Gene Name |
transportin 1 |
Synonyms |
D13Ertd688e, Kpnb2 |
MMRRC Submission |
041077-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.969)
|
Stock # |
R4274 (G1)
|
Quality Score |
217 |
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: 99.3%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
Validation Efficiency |
98% (55/56) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
T |
C |
11: 109,980,930 (GRCm39) |
Y36C |
probably damaging |
Het |
Abcc4 |
T |
C |
14: 118,867,034 (GRCm39) |
R228G |
probably damaging |
Het |
Acap2 |
A |
T |
16: 30,926,932 (GRCm39) |
S528T |
probably benign |
Het |
Adamts6 |
T |
A |
13: 104,450,787 (GRCm39) |
D323E |
possibly damaging |
Het |
Ano8 |
G |
T |
8: 71,931,385 (GRCm39) |
|
probably benign |
Het |
Ano9 |
T |
G |
7: 140,690,608 (GRCm39) |
Q48P |
probably benign |
Het |
Atp13a1 |
T |
G |
8: 70,257,942 (GRCm39) |
L899R |
probably benign |
Het |
Card10 |
G |
A |
15: 78,664,714 (GRCm39) |
R747W |
probably damaging |
Het |
Csn1s1 |
T |
C |
5: 87,828,820 (GRCm39) |
*295R |
probably null |
Het |
Dhx9 |
A |
G |
1: 153,344,672 (GRCm39) |
I505T |
probably damaging |
Het |
Dnajc17 |
A |
T |
2: 119,016,866 (GRCm39) |
S37T |
probably benign |
Het |
Dot1l |
T |
A |
10: 80,619,822 (GRCm39) |
|
probably null |
Het |
Dph7 |
A |
G |
2: 24,853,512 (GRCm39) |
N109S |
possibly damaging |
Het |
Ednra |
C |
T |
8: 78,446,931 (GRCm39) |
G49D |
probably benign |
Het |
Fam83g |
T |
C |
11: 61,592,554 (GRCm39) |
M259T |
probably damaging |
Het |
Fer1l4 |
A |
T |
2: 155,862,464 (GRCm39) |
D1736E |
probably damaging |
Het |
Fetub |
T |
C |
16: 22,754,429 (GRCm39) |
I212T |
probably damaging |
Het |
Foxc2 |
C |
A |
8: 121,844,439 (GRCm39) |
S362R |
probably benign |
Het |
Gm8444 |
A |
G |
15: 81,727,734 (GRCm39) |
|
probably benign |
Het |
Gpank1 |
G |
A |
17: 35,343,245 (GRCm39) |
E242K |
probably benign |
Het |
Hps4 |
G |
A |
5: 112,522,896 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
Ighv1-20 |
A |
T |
12: 114,687,819 (GRCm39) |
W3R |
probably damaging |
Het |
Kcnq1 |
T |
C |
7: 142,738,179 (GRCm39) |
I209T |
probably damaging |
Het |
Me3 |
A |
T |
7: 89,455,934 (GRCm39) |
E262V |
probably damaging |
Het |
Mei1 |
G |
A |
15: 82,009,064 (GRCm39) |
R1233Q |
possibly damaging |
Het |
Mrc2 |
G |
A |
11: 105,239,257 (GRCm39) |
|
probably null |
Het |
Mrgprx3-ps |
T |
C |
7: 46,959,574 (GRCm39) |
|
noncoding transcript |
Het |
Or4k37 |
A |
T |
2: 111,159,160 (GRCm39) |
Y132F |
probably damaging |
Het |
Or5p6 |
C |
A |
7: 107,630,751 (GRCm39) |
K266N |
probably benign |
Het |
Or8a1b |
A |
T |
9: 37,623,364 (GRCm39) |
D70E |
probably damaging |
Het |
Ostm1 |
T |
C |
10: 42,574,230 (GRCm39) |
F153L |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,350,751 (GRCm39) |
T532I |
possibly damaging |
Het |
Prpf40a |
G |
A |
2: 53,036,184 (GRCm39) |
H624Y |
probably damaging |
Het |
Rtn2 |
T |
C |
7: 19,021,249 (GRCm39) |
S210P |
probably benign |
Het |
Siglec1 |
T |
C |
2: 130,927,734 (GRCm39) |
Q24R |
probably benign |
Het |
Smurf1 |
T |
C |
5: 144,833,585 (GRCm39) |
|
probably benign |
Het |
Ssr1 |
G |
A |
13: 38,169,266 (GRCm39) |
L225F |
possibly damaging |
Het |
Tlr6 |
A |
G |
5: 65,110,981 (GRCm39) |
I642T |
probably benign |
Het |
Tnrc18 |
T |
C |
5: 142,729,405 (GRCm39) |
K1674R |
unknown |
Het |
Tns1 |
T |
A |
1: 73,967,257 (GRCm39) |
Y1115F |
probably damaging |
Het |
Trim56 |
T |
A |
5: 137,142,541 (GRCm39) |
E325V |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,606,318 (GRCm39) |
T18164A |
possibly damaging |
Het |
Ugt2a3 |
A |
T |
5: 87,475,548 (GRCm39) |
D361E |
probably damaging |
Het |
Vmn2r125 |
T |
C |
4: 156,702,382 (GRCm39) |
I56T |
probably benign |
Het |
Xkr5 |
T |
A |
8: 18,984,183 (GRCm39) |
H453L |
probably benign |
Het |
Zcchc7 |
C |
T |
4: 44,931,335 (GRCm39) |
H496Y |
possibly damaging |
Het |
Zfp82 |
C |
T |
7: 29,755,792 (GRCm39) |
R430H |
probably damaging |
Het |
Zscan22 |
T |
C |
7: 12,640,251 (GRCm39) |
V6A |
probably benign |
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 |
|
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 |
|
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'- TCATGATGAGCAAAACCTAGTCTC -3'
(R):5'- CCCCAGATGTGTATGTGCAC -3'
Sequencing Primer
(F):5'- GTTTAAATAATTCCTCCACCGGGCAG -3'
(R):5'- TGTATGTGCACAAAGGAGTTCC -3'
|
Posted On |
2015-06-24 |