Incidental Mutation 'R9345:Tnpo3'
| ID |
707735 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9345 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29558851 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 693
(H693R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012679
AA Change: H693R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: H693R
| 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
AA Change: H693R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: H693R
| 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 |
probably benign
Transcript: ENSMUST00000170350
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535
AA Change: H10R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
2 |
187 |
1e-5 |
SMART |
|
PDB:4C0P|D
|
2 |
247 |
1e-156 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc2 |
A |
T |
19: 43,807,869 (GRCm39) |
I837F |
probably damaging |
Het |
| Acot3 |
A |
G |
12: 84,103,866 (GRCm39) |
Y225C |
probably benign |
Het |
| Adam17 |
A |
G |
12: 21,378,056 (GRCm39) |
V710A |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,761,899 (GRCm39) |
|
probably benign |
Het |
| Ankrd60 |
T |
A |
2: 173,410,610 (GRCm39) |
K303N |
possibly damaging |
Het |
| Atp10b |
T |
A |
11: 43,094,024 (GRCm39) |
S523T |
probably damaging |
Het |
| Bptf |
A |
G |
11: 106,971,588 (GRCm39) |
V973A |
possibly damaging |
Het |
| Ccdc24 |
C |
T |
4: 117,729,691 (GRCm39) |
W9* |
probably null |
Het |
| Ccdc82 |
A |
G |
9: 13,281,891 (GRCm39) |
T439A |
probably benign |
Het |
| Ccne2 |
C |
A |
4: 11,199,420 (GRCm39) |
Q274K |
probably benign |
Het |
| Clec11a |
T |
C |
7: 43,956,189 (GRCm39) |
M1V |
probably null |
Het |
| Col12a1 |
T |
A |
9: 79,541,017 (GRCm39) |
Y2370F |
probably benign |
Het |
| Cyp4a32 |
C |
T |
4: 115,467,699 (GRCm39) |
H228Y |
probably benign |
Het |
| Dchs2 |
G |
A |
3: 83,036,101 (GRCm39) |
G283S |
probably benign |
Het |
| Dis3 |
T |
C |
14: 99,318,814 (GRCm39) |
T659A |
probably damaging |
Het |
| Dock5 |
T |
C |
14: 68,060,071 (GRCm39) |
D456G |
possibly damaging |
Het |
| Efr3b |
T |
A |
12: 4,033,409 (GRCm39) |
K249* |
probably null |
Het |
| Emilin2 |
C |
T |
17: 71,581,539 (GRCm39) |
V396I |
probably benign |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fasn |
A |
T |
11: 120,706,735 (GRCm39) |
S947T |
probably benign |
Het |
| Fryl |
C |
T |
5: 73,207,754 (GRCm39) |
C2472Y |
probably benign |
Het |
| Gm3159 |
A |
T |
14: 4,398,488 (GRCm38) |
I60L |
probably benign |
Het |
| Gm3402 |
A |
T |
5: 146,451,330 (GRCm39) |
N63Y |
probably damaging |
Het |
| Gm49355 |
C |
T |
14: 12,296,641 (GRCm38) |
|
probably benign |
Het |
| Grm2 |
A |
G |
9: 106,528,287 (GRCm39) |
L199P |
probably damaging |
Het |
| Hck |
T |
A |
2: 152,992,904 (GRCm39) |
H470Q |
probably benign |
Het |
| Hsd17b4 |
T |
C |
18: 50,299,981 (GRCm39) |
Y413H |
probably benign |
Het |
| Ice1 |
A |
G |
13: 70,740,758 (GRCm39) |
F80L |
|
Het |
| Ifrd1 |
G |
A |
12: 40,267,458 (GRCm39) |
P38S |
possibly damaging |
Het |
| Itgad |
A |
G |
7: 127,788,479 (GRCm39) |
T431A |
probably benign |
Het |
| Kcnd3 |
A |
T |
3: 105,566,003 (GRCm39) |
I395F |
probably damaging |
Het |
| Kif20a |
A |
G |
18: 34,759,779 (GRCm39) |
E58G |
probably benign |
Het |
| Kras |
A |
T |
6: 145,192,442 (GRCm39) |
D30E |
probably benign |
Het |
| Lmbrd1 |
C |
T |
1: 24,724,593 (GRCm39) |
A59V |
probably damaging |
Het |
| Lrrc20 |
T |
C |
10: 61,383,890 (GRCm39) |
L99P |
probably damaging |
Het |
| Mfn2 |
T |
C |
4: 147,966,649 (GRCm39) |
D514G |
probably benign |
Het |
| Myl2 |
A |
G |
5: 122,242,902 (GRCm39) |
E96G |
probably damaging |
Het |
| Nppb |
T |
G |
4: 148,070,518 (GRCm39) |
L29R |
probably damaging |
Het |
| Or51f1e |
C |
T |
7: 102,747,713 (GRCm39) |
A255V |
possibly damaging |
Het |
| Or5ak22 |
A |
G |
2: 85,230,097 (GRCm39) |
V260A |
probably benign |
Het |
| Pcdhb14 |
A |
G |
18: 37,581,281 (GRCm39) |
H129R |
probably damaging |
Het |
| Pex11g |
T |
C |
8: 3,509,363 (GRCm39) |
N188S |
possibly damaging |
Het |
| Pla2g3 |
A |
G |
11: 3,442,170 (GRCm39) |
D410G |
probably benign |
Het |
| Pnma1 |
C |
A |
12: 84,194,232 (GRCm39) |
W157L |
probably benign |
Het |
| Pofut2 |
A |
G |
10: 77,103,090 (GRCm39) |
Y362C |
probably damaging |
Het |
| Ppp1r14c |
C |
A |
10: 3,373,567 (GRCm39) |
S126* |
probably null |
Het |
| Psg27 |
T |
C |
7: 18,299,081 (GRCm39) |
H80R |
probably benign |
Het |
| Rere |
T |
A |
4: 150,554,770 (GRCm39) |
V156D |
probably damaging |
Het |
| Rsf1 |
CGGC |
CGGCGGCGGGGGC |
7: 97,229,139 (GRCm39) |
|
probably benign |
Het |
| Samd8 |
G |
A |
14: 21,830,227 (GRCm39) |
V281I |
probably benign |
Het |
| Scarf1 |
A |
G |
11: 75,404,401 (GRCm39) |
|
probably benign |
Het |
| Scgb2b27 |
A |
G |
7: 33,712,722 (GRCm39) |
L40P |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 142,147,708 (GRCm39) |
H1780L |
probably benign |
Het |
| Slc10a6 |
T |
C |
5: 103,754,521 (GRCm39) |
T337A |
probably benign |
Het |
| Slc44a4 |
A |
T |
17: 35,140,219 (GRCm39) |
D208V |
probably benign |
Het |
| Slco1c1 |
G |
T |
6: 141,493,553 (GRCm39) |
C363F |
probably benign |
Het |
| Smg5 |
T |
A |
3: 88,261,848 (GRCm39) |
L707Q |
probably damaging |
Het |
| Supt5 |
A |
T |
7: 28,016,412 (GRCm39) |
D789E |
probably benign |
Het |
| Tbcd |
A |
G |
11: 121,464,648 (GRCm39) |
Y561C |
probably damaging |
Het |
| Tectb |
T |
C |
19: 55,183,097 (GRCm39) |
L316P |
probably benign |
Het |
| Thrsp |
T |
C |
7: 97,066,326 (GRCm39) |
T129A |
possibly damaging |
Het |
| Trim54 |
T |
G |
5: 31,294,478 (GRCm39) |
D335E |
probably benign |
Het |
| Tsr1 |
A |
G |
11: 74,790,126 (GRCm39) |
D107G |
probably benign |
Het |
| Ttc41 |
A |
T |
10: 86,595,089 (GRCm39) |
E954D |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,538,595 (GRCm39) |
L34701P |
possibly damaging |
Het |
| Vmn1r119 |
A |
C |
7: 20,746,034 (GRCm39) |
V116G |
probably damaging |
Het |
| Vmn1r219 |
G |
A |
13: 23,346,769 (GRCm39) |
|
probably benign |
Het |
| Zc3h12c |
T |
A |
9: 52,028,010 (GRCm39) |
M470L |
probably benign |
Het |
| Zmynd8 |
T |
C |
2: 165,654,668 (GRCm39) |
K615E |
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 |
|
|
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 |
|
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'- AACATGCTGTGGTTGTGACAGG -3'
(R):5'- TCTTTGGAAGGAAACCAGTCAAAG -3'
Sequencing Primer
(F):5'- TGCTGTGGTTGTGACAGGAATAAAG -3'
(R):5'- CCAGTCAAAGGCATGAAAGAAATC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation