Incidental Mutation 'R6279:Tnpo1'
| ID |
507851 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo1
|
| Ensembl Gene |
ENSMUSG00000009470 |
| Gene Name |
transportin 1 |
| Synonyms |
D13Ertd688e, Kpnb2 |
| MMRRC Submission |
044449-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.969)
|
| Stock # |
R6279 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
98975527-99062892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 99027216 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 25
(P25L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136496
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109399]
[ENSMUST00000109401]
[ENSMUST00000179271]
[ENSMUST00000179301]
|
| AlphaFold |
Q8BFY9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000109399
AA Change: P25L
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105026
Gene: ENSMUSG00000009470
AA Change: P25L
| 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 |
possibly damaging
Transcript: ENSMUST00000109401
AA Change: P33L
PolyPhen 2
Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105028
Gene: ENSMUSG00000009470
AA Change: P33L
| 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: ENSMUST00000179271
AA Change: P25L
PolyPhen 2
Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000136496
Gene: ENSMUSG00000009470
AA Change: P25L
| Domain | Start | End | E-Value | Type |
|---|
|
IBN_N
|
33 |
101 |
1.53e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179301
AA Change: P25L
PolyPhen 2
Score 0.215 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136917
Gene: ENSMUSG00000009470
AA Change: P25L
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
97% (58/60) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap1s3 |
T |
C |
1: 79,602,840 (GRCm39) |
K56E |
probably damaging |
Het |
| Apob |
C |
T |
12: 8,057,769 (GRCm39) |
R2084* |
probably null |
Het |
| Arid1b |
C |
A |
17: 5,392,274 (GRCm39) |
L1935M |
probably damaging |
Het |
| Bag6 |
T |
C |
17: 35,357,577 (GRCm39) |
V122A |
probably damaging |
Het |
| Bmal2 |
A |
G |
6: 146,723,444 (GRCm39) |
Y258C |
probably damaging |
Het |
| Cacna1e |
T |
A |
1: 154,301,678 (GRCm39) |
T1685S |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,294,950 (GRCm39) |
C671* |
probably null |
Het |
| Cul3 |
A |
G |
1: 80,264,669 (GRCm39) |
V211A |
probably damaging |
Het |
| Cyp2d22 |
C |
A |
15: 82,258,169 (GRCm39) |
K150N |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,042,798 (GRCm39) |
I3208N |
probably damaging |
Het |
| Dnah7b |
T |
C |
1: 46,365,046 (GRCm39) |
F3609S |
probably damaging |
Het |
| Endod1 |
T |
C |
9: 14,268,166 (GRCm39) |
T440A |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,285,246 (GRCm39) |
T776A |
possibly damaging |
Het |
| Faap24 |
A |
C |
7: 35,095,709 (GRCm39) |
V12G |
possibly damaging |
Het |
| Gabrg2 |
T |
C |
11: 41,891,350 (GRCm39) |
|
probably null |
Het |
| Ggta1 |
A |
G |
2: 35,298,006 (GRCm39) |
Y148H |
probably damaging |
Het |
| Hspe1 |
T |
A |
1: 55,129,860 (GRCm39) |
|
probably null |
Het |
| Il12a |
A |
T |
3: 68,605,312 (GRCm39) |
I193F |
probably damaging |
Het |
| Il2rb |
T |
C |
15: 78,365,738 (GRCm39) |
N520D |
possibly damaging |
Het |
| Kat6a |
A |
G |
8: 23,429,628 (GRCm39) |
Q1661R |
unknown |
Het |
| Klhl18 |
T |
A |
9: 110,265,130 (GRCm39) |
N362I |
probably benign |
Het |
| Lrba |
A |
G |
3: 86,256,171 (GRCm39) |
D1171G |
probably benign |
Het |
| Mef2b |
C |
T |
8: 70,619,769 (GRCm39) |
T285I |
possibly damaging |
Het |
| Mmrn2 |
T |
C |
14: 34,119,614 (GRCm39) |
S198P |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,287,677 (GRCm39) |
W106R |
probably damaging |
Het |
| Nek5 |
T |
A |
8: 22,597,737 (GRCm39) |
M281L |
probably benign |
Het |
| Or10w3 |
A |
G |
19: 13,704,029 (GRCm39) |
I135V |
probably benign |
Het |
| Or2y15 |
T |
A |
11: 49,351,039 (GRCm39) |
C178S |
probably damaging |
Het |
| Or4c105 |
A |
T |
2: 88,647,719 (GRCm39) |
D68V |
probably damaging |
Het |
| Or52e19 |
A |
T |
7: 102,959,636 (GRCm39) |
H236L |
probably benign |
Het |
| Or52e7 |
G |
A |
7: 104,684,878 (GRCm39) |
V158M |
probably benign |
Het |
| Pcdhgb5 |
T |
A |
18: 37,865,752 (GRCm39) |
F516I |
probably damaging |
Het |
| Pde10a |
T |
C |
17: 9,197,789 (GRCm39) |
I1026T |
probably damaging |
Het |
| Pde4dip |
A |
C |
3: 97,606,496 (GRCm39) |
L2126R |
probably damaging |
Het |
| Pds5b |
T |
A |
5: 150,646,713 (GRCm39) |
N167K |
possibly damaging |
Het |
| Pkmyt1 |
C |
T |
17: 23,951,476 (GRCm39) |
P10L |
probably benign |
Het |
| Pphln1-ps1 |
T |
C |
16: 13,495,134 (GRCm39) |
S78P |
probably damaging |
Het |
| Prr5l |
A |
T |
2: 101,547,765 (GRCm39) |
Y253* |
probably null |
Het |
| Rdh9 |
A |
G |
10: 127,612,627 (GRCm39) |
T92A |
probably benign |
Het |
| Reln |
A |
G |
5: 22,101,839 (GRCm39) |
Y3364H |
probably damaging |
Het |
| Rufy4 |
T |
A |
1: 74,172,383 (GRCm39) |
S369T |
probably benign |
Het |
| Ryr1 |
A |
T |
7: 28,786,853 (GRCm39) |
M1587K |
possibly damaging |
Het |
| Ryr2 |
T |
A |
13: 11,695,885 (GRCm39) |
H2994L |
probably damaging |
Het |
| Safb2 |
T |
C |
17: 56,870,226 (GRCm39) |
H950R |
possibly damaging |
Het |
| Sez6 |
T |
C |
11: 77,867,367 (GRCm39) |
V788A |
possibly damaging |
Het |
| Sfrp4 |
G |
A |
13: 19,808,023 (GRCm39) |
A141T |
probably damaging |
Het |
| Sh3d19 |
A |
T |
3: 86,011,409 (GRCm39) |
I332F |
possibly damaging |
Het |
| Skor1 |
A |
T |
9: 63,052,596 (GRCm39) |
W458R |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,084,344 (GRCm39) |
T78M |
probably damaging |
Het |
| Slc8a3 |
T |
A |
12: 81,361,752 (GRCm39) |
I356F |
probably damaging |
Het |
| Slk |
A |
G |
19: 47,630,443 (GRCm39) |
T1205A |
probably damaging |
Het |
| Tcte1 |
T |
C |
17: 45,844,215 (GRCm39) |
S64P |
possibly damaging |
Het |
| Top3a |
T |
C |
11: 60,640,234 (GRCm39) |
D488G |
probably benign |
Het |
| Tshz1 |
A |
T |
18: 84,033,436 (GRCm39) |
V324D |
probably damaging |
Het |
| Ttc21a |
T |
C |
9: 119,790,905 (GRCm39) |
S884P |
possibly damaging |
Het |
| Usp17lb |
A |
G |
7: 104,489,898 (GRCm39) |
L342P |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,381,623 (GRCm39) |
N3S |
probably damaging |
Het |
| Zfp672 |
A |
T |
11: 58,208,094 (GRCm39) |
C76S |
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 |
|
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 |
|
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'- TCTCTCCCGACAGTTCAAAC -3'
(R):5'- AAATTCGCGGTGACTCAGTC -3'
Sequencing Primer
(F):5'- CCGCCGGTCATTGTGTG -3'
(R):5'- GTGACTCAGTCTGGTCAGCTC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation