Incidental Mutation 'R4272:Tnpo1'
| ID |
322233 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo1
|
| Ensembl Gene |
ENSMUSG00000009470 |
| Gene Name |
transportin 1 |
| Synonyms |
D13Ertd688e, Kpnb2 |
| MMRRC Submission |
041644-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R4272 (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: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
98% (52/53) |
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
T |
A |
17: 43,021,013 (GRCm39) |
T604S |
probably damaging |
Het |
| Ago3 |
T |
A |
4: 126,248,884 (GRCm39) |
T556S |
possibly damaging |
Het |
| Arap2 |
T |
C |
5: 62,828,322 (GRCm39) |
I950V |
possibly damaging |
Het |
| Arl5b |
A |
G |
2: 15,077,990 (GRCm39) |
E105G |
probably damaging |
Het |
| Capza3 |
A |
G |
6: 139,988,264 (GRCm39) |
I288V |
probably benign |
Het |
| Chka |
G |
A |
19: 3,925,737 (GRCm39) |
|
probably benign |
Het |
| Cnpy4 |
G |
T |
5: 138,190,853 (GRCm39) |
V159F |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,251,049 (GRCm39) |
I301V |
probably benign |
Het |
| Disp1 |
T |
A |
1: 182,869,208 (GRCm39) |
I1071F |
possibly damaging |
Het |
| Dlec1 |
C |
T |
9: 118,972,231 (GRCm39) |
A1417V |
probably damaging |
Het |
| Dlgap1 |
T |
A |
17: 71,073,038 (GRCm39) |
S686T |
probably benign |
Het |
| Dync1li2 |
A |
G |
8: 105,149,775 (GRCm39) |
S411P |
probably damaging |
Het |
| Efnb2 |
T |
A |
8: 8,670,698 (GRCm39) |
S301C |
probably damaging |
Het |
| Enpp4 |
T |
C |
17: 44,412,698 (GRCm39) |
N279D |
probably benign |
Het |
| Exoc3 |
A |
G |
13: 74,340,763 (GRCm39) |
V347A |
probably damaging |
Het |
| Ezh1 |
A |
G |
11: 101,085,734 (GRCm39) |
F641S |
probably damaging |
Het |
| Gcgr |
T |
A |
11: 120,429,250 (GRCm39) |
|
probably benign |
Het |
| Gm4887 |
G |
T |
7: 104,470,535 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
C |
T |
4: 137,246,251 (GRCm39) |
R1010C |
probably damaging |
Het |
| Htt |
G |
A |
5: 35,006,413 (GRCm39) |
V1441I |
possibly damaging |
Het |
| Ift70a1 |
A |
G |
2: 75,810,818 (GRCm39) |
Y422H |
probably damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,120,044 (GRCm39) |
M1398V |
probably benign |
Het |
| Lrrc15 |
T |
C |
16: 30,092,673 (GRCm39) |
N222S |
probably benign |
Het |
| Mctp2 |
A |
T |
7: 71,909,079 (GRCm39) |
V78E |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,628 (GRCm39) |
Y103C |
probably damaging |
Het |
| Mphosph9 |
G |
A |
5: 124,442,266 (GRCm39) |
P361S |
probably damaging |
Het |
| Npffr2 |
G |
A |
5: 89,715,882 (GRCm39) |
V70M |
probably damaging |
Het |
| Obox3-ps8 |
A |
C |
17: 36,763,909 (GRCm39) |
|
noncoding transcript |
Het |
| Or4c117 |
A |
G |
2: 88,955,706 (GRCm39) |
V123A |
probably damaging |
Het |
| Pdgfra |
G |
A |
5: 75,343,731 (GRCm39) |
V751I |
probably benign |
Het |
| Phykpl |
T |
C |
11: 51,476,355 (GRCm39) |
L25P |
probably damaging |
Het |
| Rgl1 |
A |
T |
1: 152,412,040 (GRCm39) |
I443N |
probably benign |
Het |
| Riok3 |
AGAAGCGG |
AG |
18: 12,268,998 (GRCm39) |
|
probably benign |
Het |
| Rragd |
T |
C |
4: 32,996,099 (GRCm39) |
|
probably null |
Het |
| Rtcb |
A |
T |
10: 85,793,483 (GRCm39) |
M30K |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,415,533 (GRCm39) |
C280S |
probably damaging |
Het |
| Sall2 |
C |
A |
14: 52,551,260 (GRCm39) |
R643L |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,116,947 (GRCm39) |
|
probably null |
Het |
| Slc52a3 |
T |
A |
2: 151,847,660 (GRCm39) |
I256N |
possibly damaging |
Het |
| Sycp2 |
A |
T |
2: 178,000,017 (GRCm39) |
D986E |
probably benign |
Het |
| Tas1r1 |
T |
C |
4: 152,116,614 (GRCm39) |
E340G |
possibly damaging |
Het |
| Trhr |
G |
A |
15: 44,060,620 (GRCm39) |
V47I |
probably damaging |
Het |
| Trpm2 |
A |
T |
10: 77,769,476 (GRCm39) |
N749K |
probably damaging |
Het |
| Ttc27 |
T |
A |
17: 75,147,355 (GRCm39) |
W636R |
probably damaging |
Het |
| Ttn |
C |
A |
2: 76,608,691 (GRCm39) |
R17775L |
probably damaging |
Het |
| Vmn2r55 |
A |
G |
7: 12,402,106 (GRCm39) |
F394S |
probably benign |
Het |
| Zfp52 |
C |
A |
17: 21,780,459 (GRCm39) |
Y102* |
probably null |
Het |
| Zyx |
A |
G |
6: 42,327,880 (GRCm39) |
D70G |
probably 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 |
|
|
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 |
|
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'- CATGATGAGCAAAACCTAGTCTC -3'
(R):5'- CCCCAGATGTGTATGTGCAC -3'
Sequencing Primer
(F):5'- GTTTAAATAATTCCTCCACCGGGCAG -3'
(R):5'- TGTATGTGCACAAAGGAGTTCC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation