Incidental Mutation 'R0143:Tnpo3'
| ID |
22435 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
038428-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0143 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 29565651 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000131411
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012679
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
| 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 benign
Transcript: ENSMUST00000115251
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
| 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: ENSMUST00000169302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201797
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.6%
- 20x: 93.6%
|
| Validation Efficiency |
97% (76/78) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
T |
18: 61,988,288 (GRCm39) |
I145N |
probably benign |
Het |
| Ankrd1 |
G |
A |
19: 36,096,713 (GRCm39) |
A38V |
probably benign |
Het |
| Ankrd34b |
A |
G |
13: 92,576,268 (GRCm39) |
E500G |
probably damaging |
Het |
| Arhgef12 |
T |
C |
9: 42,916,890 (GRCm39) |
T419A |
probably damaging |
Het |
| B3galt2 |
A |
T |
1: 143,523,072 (GRCm39) |
N403Y |
possibly damaging |
Het |
| Bbx |
C |
T |
16: 50,100,755 (GRCm39) |
E47K |
probably benign |
Het |
| C4b |
G |
A |
17: 34,953,193 (GRCm39) |
|
probably benign |
Het |
| Cacna1e |
A |
T |
1: 154,324,693 (GRCm39) |
|
probably null |
Het |
| Cdh3 |
T |
C |
8: 107,237,857 (GRCm39) |
V17A |
probably benign |
Het |
| Cog7 |
A |
T |
7: 121,550,387 (GRCm39) |
L379Q |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,837,336 (GRCm39) |
N1044S |
possibly damaging |
Het |
| Cyp4b1 |
C |
T |
4: 115,493,071 (GRCm39) |
D258N |
probably damaging |
Het |
| Ddx39a |
T |
C |
8: 84,447,179 (GRCm39) |
V113A |
probably benign |
Het |
| Dennd4b |
A |
T |
3: 90,179,671 (GRCm39) |
H643L |
probably damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,413,640 (GRCm39) |
T334A |
probably benign |
Het |
| Dsg3 |
T |
C |
18: 20,669,882 (GRCm39) |
L632S |
probably damaging |
Het |
| Dtx4 |
G |
A |
19: 12,463,846 (GRCm39) |
T312I |
probably damaging |
Het |
| Dusp18 |
C |
T |
11: 3,847,243 (GRCm39) |
R78C |
probably benign |
Het |
| Fes |
A |
C |
7: 80,033,643 (GRCm39) |
F203V |
probably benign |
Het |
| Fhad1 |
C |
A |
4: 141,656,957 (GRCm39) |
|
probably benign |
Het |
| Gjb2 |
T |
C |
14: 57,337,526 (GRCm39) |
|
silent |
Het |
| Gm5828 |
T |
C |
1: 16,838,579 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdma |
A |
C |
11: 98,557,080 (GRCm39) |
E65A |
probably damaging |
Het |
| Hck |
T |
A |
2: 152,976,140 (GRCm39) |
|
probably null |
Het |
| Henmt1 |
A |
T |
3: 108,861,118 (GRCm39) |
H47L |
probably damaging |
Het |
| Hivep2 |
T |
C |
10: 14,005,099 (GRCm39) |
F566L |
probably damaging |
Het |
| Hnrnpl |
T |
C |
7: 28,513,617 (GRCm39) |
|
probably benign |
Het |
| Igsf3 |
T |
C |
3: 101,342,917 (GRCm39) |
I518T |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,793,193 (GRCm39) |
F223L |
probably benign |
Het |
| Isoc2a |
T |
C |
7: 4,894,331 (GRCm39) |
|
probably null |
Het |
| Krt73 |
T |
A |
15: 101,709,208 (GRCm39) |
R200W |
probably damaging |
Het |
| Lgals9 |
T |
A |
11: 78,854,361 (GRCm39) |
I308F |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,429,811 (GRCm39) |
F420L |
probably damaging |
Het |
| Mep1b |
T |
C |
18: 21,228,164 (GRCm39) |
|
probably benign |
Het |
| Mex3a |
G |
T |
3: 88,443,562 (GRCm39) |
A213S |
probably benign |
Het |
| Mmp13 |
T |
C |
9: 7,276,558 (GRCm39) |
F218L |
probably damaging |
Het |
| Ncf1 |
G |
T |
5: 134,255,991 (GRCm39) |
|
probably benign |
Het |
| Notch2 |
A |
G |
3: 98,053,433 (GRCm39) |
D2032G |
probably damaging |
Het |
| Or10h28 |
T |
C |
17: 33,488,471 (GRCm39) |
S258P |
probably damaging |
Het |
| Or5p1 |
A |
G |
7: 107,916,202 (GRCm39) |
I34V |
probably benign |
Het |
| Or9i1b |
A |
C |
19: 13,896,614 (GRCm39) |
I77L |
probably damaging |
Het |
| Pex16 |
G |
A |
2: 92,210,802 (GRCm39) |
G312D |
probably damaging |
Het |
| Pex5 |
A |
T |
6: 124,375,448 (GRCm39) |
W525R |
probably damaging |
Het |
| Plcb4 |
T |
A |
2: 135,818,131 (GRCm39) |
I799N |
probably damaging |
Het |
| Poldip3 |
G |
A |
15: 83,012,144 (GRCm39) |
L372F |
probably damaging |
Het |
| Polg2 |
C |
A |
11: 106,668,352 (GRCm39) |
V174L |
probably benign |
Het |
| Prrt4 |
C |
G |
6: 29,170,670 (GRCm39) |
G594A |
probably damaging |
Het |
| Prss1 |
A |
G |
6: 41,440,522 (GRCm39) |
D199G |
probably damaging |
Het |
| Rbms2 |
T |
A |
10: 127,973,823 (GRCm39) |
Q207L |
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,123,074 (GRCm39) |
D334G |
possibly damaging |
Het |
| Slc6a15 |
T |
G |
10: 103,253,929 (GRCm39) |
C622G |
probably benign |
Het |
| Spdya |
T |
A |
17: 71,865,635 (GRCm39) |
D84E |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,785,982 (GRCm39) |
S432T |
possibly damaging |
Het |
| Tiam1 |
A |
T |
16: 89,695,088 (GRCm39) |
V123E |
probably benign |
Het |
| Tnrc6c |
A |
C |
11: 117,643,811 (GRCm39) |
N1481H |
probably damaging |
Het |
| Top3b |
T |
C |
16: 16,701,389 (GRCm39) |
S234P |
probably damaging |
Het |
| Tor1aip2 |
A |
T |
1: 155,935,294 (GRCm39) |
T10S |
probably benign |
Het |
| Tpsab1 |
T |
A |
17: 25,562,418 (GRCm39) |
H303L |
probably benign |
Het |
| Traf3 |
T |
A |
12: 111,228,010 (GRCm39) |
V407D |
probably damaging |
Het |
| Trim33 |
T |
A |
3: 103,259,417 (GRCm39) |
D1035E |
probably benign |
Het |
| Ttc38 |
T |
C |
15: 85,737,920 (GRCm39) |
V402A |
possibly damaging |
Het |
| Ube4b |
C |
T |
4: 149,439,914 (GRCm39) |
R646H |
possibly damaging |
Het |
| Usp8 |
C |
A |
2: 126,597,009 (GRCm39) |
|
probably benign |
Het |
| Zdbf2 |
A |
T |
1: 63,347,233 (GRCm39) |
I1871F |
probably benign |
Het |
| Zfp345 |
T |
A |
2: 150,314,475 (GRCm39) |
Q354L |
probably benign |
Het |
| Zfp462 |
C |
A |
4: 55,023,402 (GRCm39) |
|
probably benign |
Het |
| Zfp81 |
G |
A |
17: 33,554,095 (GRCm39) |
H240Y |
possibly damaging |
Het |
| Zfp830 |
A |
G |
11: 82,655,994 (GRCm39) |
D266G |
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 |
|
R0384:Tnpo3
|
UTSW |
6 |
29,582,163 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0597:Tnpo3
|
UTSW |
6 |
29,578,564 (GRCm39) |
nonsense |
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'- GTCTTGCTAGGACAAGAGCTGTTCC -3'
(R):5'- AAAAGCCTCTGGCTTCTGCTGC -3'
Sequencing Primer
(F):5'- GACAAGAGCTGTTCCTGAAAAAC -3'
(R):5'- TGCAGCCAAAGCCATTCATAAC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation