Incidental Mutation 'R5325:Tnpo3'
| ID |
421884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
042908-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5325 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to C
at 29602012 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: ENSMUST00000164325
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000166844
|
| SMART Domains |
Protein: ENSMUSP00000131699
Gene: ENSMUSG00000012535
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4C0P|D
|
1 |
55 |
1e-22 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170634
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
98% (55/56) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
A |
11: 105,896,079 (GRCm39) |
M675K |
probably benign |
Het |
| Ccdc186 |
A |
T |
19: 56,801,613 (GRCm39) |
I168N |
probably damaging |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cep83 |
A |
G |
10: 94,573,768 (GRCm39) |
E219G |
probably damaging |
Het |
| Ctsj |
T |
C |
13: 61,151,839 (GRCm39) |
T73A |
possibly damaging |
Het |
| Ddr2 |
T |
A |
1: 169,829,406 (GRCm39) |
T283S |
probably benign |
Het |
| Ehbp1 |
T |
A |
11: 22,045,370 (GRCm39) |
D768V |
possibly damaging |
Het |
| Evpl |
T |
C |
11: 116,112,191 (GRCm39) |
D1833G |
probably damaging |
Het |
| Exoc1 |
A |
G |
5: 76,685,549 (GRCm39) |
N87S |
probably benign |
Het |
| Fam98b |
A |
C |
2: 117,101,132 (GRCm39) |
I315L |
possibly damaging |
Het |
| Fancg |
A |
G |
4: 43,006,564 (GRCm39) |
V330A |
probably damaging |
Het |
| Fbxo30 |
G |
A |
10: 11,166,846 (GRCm39) |
V523I |
possibly damaging |
Het |
| Fbxw27 |
A |
G |
9: 109,599,161 (GRCm39) |
C419R |
probably damaging |
Het |
| Flt3 |
C |
A |
5: 147,312,459 (GRCm39) |
V161L |
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,790,765 (GRCm39) |
T87I |
probably damaging |
Het |
| Gm4787 |
G |
C |
12: 81,424,604 (GRCm39) |
T518S |
probably benign |
Het |
| Gm6457 |
A |
T |
18: 14,703,498 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr63 |
T |
C |
4: 25,007,294 (GRCm39) |
V6A |
probably benign |
Het |
| Grhl3 |
T |
A |
4: 135,286,415 (GRCm39) |
K89* |
probably null |
Het |
| H2-M10.2 |
C |
A |
17: 36,596,471 (GRCm39) |
V125L |
probably benign |
Het |
| Hrh4 |
C |
T |
18: 13,155,054 (GRCm39) |
Q198* |
probably null |
Het |
| Lrch4 |
A |
G |
5: 137,636,168 (GRCm39) |
E373G |
probably damaging |
Het |
| Mroh9 |
C |
G |
1: 162,888,329 (GRCm39) |
G249R |
probably damaging |
Het |
| Noa1 |
A |
C |
5: 77,452,042 (GRCm39) |
D547E |
probably damaging |
Het |
| Nr2e1 |
G |
A |
10: 42,448,780 (GRCm39) |
R153W |
probably damaging |
Het |
| Nudt9 |
A |
C |
5: 104,198,487 (GRCm39) |
M1L |
possibly damaging |
Het |
| Odf2 |
T |
A |
2: 29,802,583 (GRCm39) |
D282E |
probably benign |
Het |
| Olfr908 |
A |
T |
9: 38,427,454 (GRCm39) |
N42I |
probably damaging |
Het |
| Or13a25 |
C |
A |
7: 140,247,705 (GRCm39) |
H168Q |
probably benign |
Het |
| Or6ae1 |
T |
A |
7: 139,742,026 (GRCm39) |
Y279F |
probably damaging |
Het |
| Osbpl5 |
C |
G |
7: 143,245,665 (GRCm39) |
A816P |
probably damaging |
Het |
| Pan2 |
T |
C |
10: 128,153,503 (GRCm39) |
I924T |
possibly damaging |
Het |
| Ppat |
A |
G |
5: 77,076,269 (GRCm39) |
|
probably benign |
Het |
| Rad50 |
T |
G |
11: 53,583,690 (GRCm39) |
I364L |
probably benign |
Het |
| Rnf7l |
A |
G |
10: 63,257,458 (GRCm39) |
S21P |
probably benign |
Het |
| Robo2 |
A |
G |
16: 73,770,673 (GRCm39) |
I484T |
possibly damaging |
Het |
| Ryr2 |
A |
T |
13: 11,705,249 (GRCm39) |
M2839K |
probably damaging |
Het |
| Sin3b |
A |
G |
8: 73,477,154 (GRCm39) |
D807G |
probably damaging |
Het |
| Sirpb1a |
G |
A |
3: 15,476,503 (GRCm39) |
T98I |
possibly damaging |
Het |
| Smim17 |
G |
A |
7: 6,432,321 (GRCm39) |
V88M |
probably damaging |
Het |
| Spib |
T |
C |
7: 44,177,505 (GRCm39) |
T229A |
probably damaging |
Het |
| St14 |
A |
T |
9: 31,008,274 (GRCm39) |
|
probably null |
Het |
| Syne4 |
A |
T |
7: 30,018,401 (GRCm39) |
Y381F |
probably damaging |
Het |
| Sytl1 |
T |
C |
4: 132,988,382 (GRCm39) |
|
probably benign |
Het |
| Trim12a |
T |
A |
7: 103,953,413 (GRCm39) |
I233F |
probably damaging |
Het |
| Tspan1 |
T |
A |
4: 116,021,536 (GRCm39) |
N82Y |
probably damaging |
Het |
| Vmn1r60 |
T |
A |
7: 5,547,201 (GRCm39) |
M300L |
probably benign |
Het |
| Wdr17 |
G |
A |
8: 55,112,716 (GRCm39) |
A788V |
possibly damaging |
Het |
| Wwtr1 |
A |
T |
3: 57,482,658 (GRCm39) |
V63E |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,060,735 (GRCm39) |
|
probably benign |
Het |
| Zfp956 |
T |
C |
6: 47,928,012 (GRCm39) |
|
probably benign |
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 |
|
|
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'- CTAGGTGAAGACTTGCCAGG -3'
(R):5'- AAGGTTATGGGCCATGGCTATC -3'
Sequencing Primer
(F):5'- TCTGGGGTCATCCATACTCTAGAAG -3'
(R):5'- ATGGGCCATGGCTATCAGTTTC -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation