Incidental Mutation 'R0597:Tnpo3'
| ID |
55113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
038786-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0597 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 29578564 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 303
(C303*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000012679
AA Change: C303*
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: C303*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IBN_N
|
30 |
96 |
6e-35 |
BLAST |
|
Pfam:Xpo1
|
101 |
249 |
3.5e-30 |
PFAM |
|
low complexity region
|
318 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
823 |
838 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000115251
AA Change: C303*
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: C303*
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:IBN_N
|
30 |
96 |
6e-35 |
BLAST |
|
Pfam:Xpo1
|
101 |
249 |
3e-30 |
PFAM |
|
low complexity region
|
318 |
328 |
N/A |
INTRINSIC |
|
low complexity region
|
829 |
844 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000164325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170634
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 99.0%
- 10x: 97.4%
- 20x: 94.1%
|
| Validation Efficiency |
97% (71/73) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a nuclear import receptor for serine/arginine-rich (SR) proteins such as the splicing factors SFRS1 and SFRS2. The encoded protein has also been shown to be involved in HIV-1 infection, apparently through interaction with the HIV-1 capsid protein. Two transcript variants encoding different isoforms as well as a noncoding transcript have been found for this gene.[provided by RefSeq, Jul 2010]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit embryonic lethality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy10 |
T |
C |
1: 165,352,631 (GRCm39) |
|
probably null |
Het |
| Anxa11 |
T |
C |
14: 25,874,652 (GRCm39) |
I221T |
probably damaging |
Het |
| Arhgap33 |
C |
G |
7: 30,225,871 (GRCm39) |
R565P |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,880,584 (GRCm39) |
|
probably benign |
Het |
| Btn2a2 |
T |
A |
13: 23,670,580 (GRCm39) |
H51L |
probably benign |
Het |
| Casz1 |
T |
C |
4: 149,028,851 (GRCm39) |
S1099P |
probably benign |
Het |
| Cnot4 |
A |
G |
6: 35,028,438 (GRCm39) |
S393P |
possibly damaging |
Het |
| Cntnap5a |
T |
C |
1: 116,112,191 (GRCm39) |
|
probably benign |
Het |
| Cobl |
T |
C |
11: 12,204,699 (GRCm39) |
T586A |
probably benign |
Het |
| Crocc |
T |
C |
4: 140,747,224 (GRCm39) |
K1528R |
probably benign |
Het |
| Crocc |
A |
G |
4: 140,744,382 (GRCm39) |
L1838P |
probably benign |
Het |
| Dact2 |
A |
G |
17: 14,417,303 (GRCm39) |
V299A |
probably benign |
Het |
| Dapk1 |
C |
A |
13: 60,909,198 (GRCm39) |
N1270K |
probably benign |
Het |
| Ddx41 |
T |
C |
13: 55,680,819 (GRCm39) |
Y375C |
probably damaging |
Het |
| Dock5 |
T |
A |
14: 68,022,383 (GRCm39) |
|
probably null |
Het |
| Dyrk4 |
T |
G |
6: 126,863,612 (GRCm39) |
|
probably null |
Het |
| Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
| Fam210b |
A |
G |
2: 172,187,773 (GRCm39) |
|
probably benign |
Het |
| Fbxl13 |
A |
G |
5: 21,819,712 (GRCm39) |
I229T |
probably benign |
Het |
| Fbxo39 |
A |
G |
11: 72,207,747 (GRCm39) |
D33G |
probably damaging |
Het |
| Fbxw11 |
A |
G |
11: 32,670,496 (GRCm39) |
E120G |
probably damaging |
Het |
| Fbxw2 |
A |
T |
2: 34,701,032 (GRCm39) |
L261Q |
probably damaging |
Het |
| Gm5800 |
A |
C |
14: 51,953,461 (GRCm39) |
N51K |
probably benign |
Het |
| Gm6899 |
A |
G |
11: 26,543,768 (GRCm39) |
|
probably benign |
Het |
| Gpx8 |
T |
C |
13: 113,182,035 (GRCm39) |
T133A |
possibly damaging |
Het |
| Grin3a |
C |
T |
4: 49,665,351 (GRCm39) |
V1095M |
probably damaging |
Het |
| Grip2 |
T |
C |
6: 91,773,178 (GRCm39) |
|
probably benign |
Het |
| Hacd4 |
A |
G |
4: 88,355,757 (GRCm39) |
F43L |
probably damaging |
Het |
| Hif1a |
T |
G |
12: 73,989,049 (GRCm39) |
S645R |
probably benign |
Het |
| Hipk3 |
A |
G |
2: 104,263,982 (GRCm39) |
S839P |
possibly damaging |
Het |
| Idi2l |
C |
A |
13: 8,990,802 (GRCm39) |
|
probably benign |
Het |
| Il16 |
A |
T |
7: 83,327,183 (GRCm39) |
|
probably benign |
Het |
| Il3ra |
T |
A |
14: 14,351,166 (GRCm38) |
|
probably null |
Het |
| Il5ra |
A |
G |
6: 106,721,296 (GRCm39) |
M1T |
probably null |
Het |
| Klra2 |
G |
A |
6: 131,197,148 (GRCm39) |
R251C |
probably benign |
Het |
| Lamc2 |
C |
T |
1: 153,009,367 (GRCm39) |
V813M |
probably benign |
Het |
| Lbr |
A |
G |
1: 181,659,778 (GRCm39) |
V139A |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,650,777 (GRCm39) |
D1219G |
possibly damaging |
Het |
| Map3k6 |
C |
T |
4: 132,972,863 (GRCm39) |
P341S |
possibly damaging |
Het |
| Mcts2 |
A |
G |
2: 152,529,609 (GRCm39) |
E140G |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,060,264 (GRCm39) |
M222V |
probably benign |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Muc19 |
A |
T |
15: 91,784,696 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h2 |
A |
G |
7: 44,201,684 (GRCm39) |
|
probably benign |
Het |
| Or13j1 |
A |
T |
4: 43,706,592 (GRCm39) |
|
probably null |
Het |
| Or2w6 |
C |
A |
13: 21,843,316 (GRCm39) |
R59L |
probably damaging |
Het |
| Or56a42-ps1 |
A |
G |
7: 104,777,425 (GRCm39) |
V73A |
possibly damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,123 (GRCm39) |
F250I |
probably damaging |
Het |
| P4hb |
G |
A |
11: 120,459,070 (GRCm39) |
T141I |
possibly damaging |
Het |
| Polr3a |
A |
G |
14: 24,534,202 (GRCm39) |
V101A |
probably benign |
Het |
| Pou4f2 |
A |
G |
8: 79,161,869 (GRCm39) |
S245P |
probably benign |
Het |
| Pramel26 |
G |
T |
4: 143,539,222 (GRCm39) |
N90K |
probably damaging |
Het |
| Rnpep |
A |
G |
1: 135,200,157 (GRCm39) |
V266A |
probably damaging |
Het |
| Scly |
G |
A |
1: 91,237,555 (GRCm39) |
G206R |
probably damaging |
Het |
| Sec14l3 |
A |
T |
11: 4,024,814 (GRCm39) |
K254N |
probably damaging |
Het |
| Sgpp1 |
A |
T |
12: 75,781,874 (GRCm39) |
I155N |
probably damaging |
Het |
| Slc22a14 |
A |
G |
9: 119,001,190 (GRCm39) |
L468P |
probably damaging |
Het |
| Slc22a27 |
A |
G |
19: 7,843,249 (GRCm39) |
F377L |
probably benign |
Het |
| Slc44a3 |
T |
C |
3: 121,253,719 (GRCm39) |
I625V |
probably benign |
Het |
| Slc47a2 |
A |
T |
11: 61,200,802 (GRCm39) |
I373N |
probably damaging |
Het |
| Slfn10-ps |
A |
T |
11: 82,926,479 (GRCm39) |
|
noncoding transcript |
Het |
| Smarcd1 |
T |
A |
15: 99,608,975 (GRCm39) |
I383N |
probably damaging |
Het |
| Sort1 |
A |
G |
3: 108,246,226 (GRCm39) |
D401G |
probably damaging |
Het |
| Sprr2a3 |
G |
T |
3: 92,195,897 (GRCm39) |
M1I |
probably null |
Het |
| Sycp2 |
A |
C |
2: 177,998,373 (GRCm39) |
V1049G |
possibly damaging |
Het |
| Tecrl |
T |
A |
5: 83,502,775 (GRCm39) |
K10* |
probably null |
Het |
| Vmn2r23 |
A |
G |
6: 123,706,680 (GRCm39) |
I503M |
probably benign |
Het |
| Zbtb8os |
T |
A |
4: 129,240,670 (GRCm39) |
I164N |
probably damaging |
Het |
| Zfp292 |
T |
C |
4: 34,807,399 (GRCm39) |
N1882D |
probably benign |
Het |
| Zfp91 |
T |
C |
19: 12,747,459 (GRCm39) |
I555V |
possibly damaging |
Het |
|
| Other mutations in Tnpo3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00417:Tnpo3
|
APN |
6 |
29,578,460 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00662:Tnpo3
|
APN |
6 |
29,565,845 (GRCm39) |
nonsense |
probably null |
|
|
IGL00753:Tnpo3
|
APN |
6 |
29,565,786 (GRCm39) |
missense |
probably benign |
0.32 |
|
IGL00906:Tnpo3
|
APN |
6 |
29,589,047 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01311:Tnpo3
|
APN |
6 |
29,586,077 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
IGL01934:Tnpo3
|
APN |
6 |
29,575,019 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL01959:Tnpo3
|
APN |
6 |
29,589,019 (GRCm39) |
splice site |
probably benign |
|
|
IGL01987:Tnpo3
|
APN |
6 |
29,560,200 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02137:Tnpo3
|
APN |
6 |
29,609,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02645:Tnpo3
|
APN |
6 |
29,562,899 (GRCm39) |
nonsense |
probably null |
|
|
IGL03409:Tnpo3
|
APN |
6 |
29,555,181 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4520001:Tnpo3
|
UTSW |
6 |
29,555,221 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R0012:Tnpo3
|
UTSW |
6 |
29,589,176 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0012:Tnpo3
|
UTSW |
6 |
29,589,176 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0119:Tnpo3
|
UTSW |
6 |
29,568,921 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0143:Tnpo3
|
UTSW |
6 |
29,565,651 (GRCm39) |
splice site |
probably benign |
|
|
R0384:Tnpo3
|
UTSW |
6 |
29,582,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0710:Tnpo3
|
UTSW |
6 |
29,586,074 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R0883:Tnpo3
|
UTSW |
6 |
29,554,992 (GRCm39) |
splice site |
probably benign |
|
|
R1494:Tnpo3
|
UTSW |
6 |
29,557,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1529:Tnpo3
|
UTSW |
6 |
29,560,220 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R1663:Tnpo3
|
UTSW |
6 |
29,565,758 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1816:Tnpo3
|
UTSW |
6 |
29,557,016 (GRCm39) |
missense |
probably benign |
0.31 |
|
R2077:Tnpo3
|
UTSW |
6 |
29,586,143 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2113:Tnpo3
|
UTSW |
6 |
29,551,871 (GRCm39) |
missense |
probably benign |
0.07 |
|
R2146:Tnpo3
|
UTSW |
6 |
29,589,035 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2377:Tnpo3
|
UTSW |
6 |
29,579,618 (GRCm39) |
missense |
probably benign |
0.19 |
|
R3765:Tnpo3
|
UTSW |
6 |
29,579,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3766:Tnpo3
|
UTSW |
6 |
29,579,688 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4125:Tnpo3
|
UTSW |
6 |
29,560,091 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4525:Tnpo3
|
UTSW |
6 |
29,561,397 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4786:Tnpo3
|
UTSW |
6 |
29,578,541 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4830:Tnpo3
|
UTSW |
6 |
29,568,937 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4948:Tnpo3
|
UTSW |
6 |
29,582,259 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5215:Tnpo3
|
UTSW |
6 |
29,582,152 (GRCm39) |
splice site |
probably benign |
|
|
R5325:Tnpo3
|
UTSW |
6 |
29,602,012 (GRCm39) |
intron |
probably benign |
|
|
R5512:Tnpo3
|
UTSW |
6 |
29,575,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5619:Tnpo3
|
UTSW |
6 |
29,565,197 (GRCm39) |
nonsense |
probably null |
|
|
R5689:Tnpo3
|
UTSW |
6 |
29,571,063 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5855:Tnpo3
|
UTSW |
6 |
29,589,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6101:Tnpo3
|
UTSW |
6 |
29,588,042 (GRCm39) |
nonsense |
probably null |
|
|
R6105:Tnpo3
|
UTSW |
6 |
29,588,042 (GRCm39) |
nonsense |
probably null |
|
|
R6137:Tnpo3
|
UTSW |
6 |
29,555,267 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6481:Tnpo3
|
UTSW |
6 |
29,571,100 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6534:Tnpo3
|
UTSW |
6 |
29,572,702 (GRCm39) |
splice site |
probably null |
|
|
R6569:Tnpo3
|
UTSW |
6 |
29,571,065 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R6976:Tnpo3
|
UTSW |
6 |
29,572,594 (GRCm39) |
nonsense |
probably null |
|
|
R7006:Tnpo3
|
UTSW |
6 |
29,589,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7312:Tnpo3
|
UTSW |
6 |
29,562,875 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7365:Tnpo3
|
UTSW |
6 |
29,556,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7686:Tnpo3
|
UTSW |
6 |
29,562,899 (GRCm39) |
nonsense |
probably null |
|
|
R7898:Tnpo3
|
UTSW |
6 |
29,565,223 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7901:Tnpo3
|
UTSW |
6 |
29,568,990 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8003:Tnpo3
|
UTSW |
6 |
29,551,900 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8144:Tnpo3
|
UTSW |
6 |
29,558,761 (GRCm39) |
missense |
probably benign |
|
|
R8147:Tnpo3
|
UTSW |
6 |
29,589,213 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8183:Tnpo3
|
UTSW |
6 |
29,558,758 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8297:Tnpo3
|
UTSW |
6 |
29,582,302 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8329:Tnpo3
|
UTSW |
6 |
29,558,832 (GRCm39) |
nonsense |
probably null |
|
|
R8424:Tnpo3
|
UTSW |
6 |
29,555,205 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8798:Tnpo3
|
UTSW |
6 |
29,572,620 (GRCm39) |
missense |
probably benign |
|
|
R8841:Tnpo3
|
UTSW |
6 |
29,589,182 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9345:Tnpo3
|
UTSW |
6 |
29,558,851 (GRCm39) |
missense |
probably benign |
|
|
R9652:Tnpo3
|
UTSW |
6 |
29,560,173 (GRCm39) |
nonsense |
probably null |
|
|
R9699:Tnpo3
|
UTSW |
6 |
29,565,768 (GRCm39) |
missense |
probably benign |
0.11 |
|
Z1088:Tnpo3
|
UTSW |
6 |
29,565,842 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- tgtgtgtgtgtgtgAACAGTGGAA -3'
(R):5'- GCACAAGCATTTGCCCCAGAGATTA -3'
Sequencing Primer
(F):5'- cactgccttgcttcacac -3'
(R):5'- ACCCAGAGTGAGTTCTTCAC -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation