Incidental Mutation 'R5215:Tnpo3'
| ID |
403409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
042788-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5215 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to T
at 29582152 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: ENSMUST00000167056
|
| 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: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (79/79) |
| 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 |
|---|
| Alas1 |
C |
A |
9: 106,120,574 (GRCm39) |
A73S |
probably benign |
Het |
| Aldoart2 |
G |
A |
12: 55,612,204 (GRCm39) |
R43Q |
probably benign |
Het |
| Ano4 |
T |
C |
10: 89,153,165 (GRCm39) |
H49R |
possibly damaging |
Het |
| Atic |
T |
C |
1: 71,603,666 (GRCm39) |
S161P |
probably damaging |
Het |
| Atp6v1c2 |
T |
C |
12: 17,341,659 (GRCm39) |
E244G |
probably benign |
Het |
| Cd164l2 |
C |
A |
4: 132,948,789 (GRCm39) |
L42I |
unknown |
Het |
| Cdc42ep2 |
T |
C |
19: 5,968,238 (GRCm39) |
R156G |
probably benign |
Het |
| Cdc45 |
C |
T |
16: 18,614,647 (GRCm39) |
R205H |
probably damaging |
Het |
| Cdk5 |
T |
A |
5: 24,624,459 (GRCm39) |
N265I |
probably benign |
Het |
| Cfap69 |
G |
T |
5: 5,639,133 (GRCm39) |
N262K |
possibly damaging |
Het |
| Chd6 |
C |
T |
2: 160,791,873 (GRCm39) |
V2495M |
probably damaging |
Het |
| Cps1 |
T |
A |
1: 67,205,539 (GRCm39) |
F521I |
possibly damaging |
Het |
| Crb2 |
A |
G |
2: 37,683,765 (GRCm39) |
E1089G |
probably benign |
Het |
| Decr1 |
T |
C |
4: 15,929,795 (GRCm39) |
D166G |
probably damaging |
Het |
| Dhodh |
G |
A |
8: 110,332,975 (GRCm39) |
|
probably benign |
Het |
| Dnaaf5 |
G |
A |
5: 139,147,632 (GRCm39) |
V399I |
probably benign |
Het |
| Dnah11 |
T |
C |
12: 118,121,096 (GRCm39) |
T526A |
probably benign |
Het |
| Drosha |
T |
C |
15: 12,885,219 (GRCm39) |
|
probably benign |
Het |
| Elfn2 |
T |
A |
15: 78,558,401 (GRCm39) |
I49F |
probably damaging |
Het |
| Gabra1 |
T |
C |
11: 42,045,655 (GRCm39) |
T152A |
probably damaging |
Het |
| Gigyf2 |
C |
A |
1: 87,292,988 (GRCm39) |
T85K |
probably damaging |
Het |
| Gimap8 |
A |
T |
6: 48,628,017 (GRCm39) |
Y258F |
possibly damaging |
Het |
| Glmn |
A |
G |
5: 107,709,752 (GRCm39) |
C351R |
probably benign |
Het |
| Gm10032 |
T |
C |
14: 67,029,998 (GRCm39) |
|
noncoding transcript |
Het |
| Gorasp2 |
G |
A |
2: 70,519,598 (GRCm39) |
A328T |
probably benign |
Het |
| Grin1 |
A |
T |
2: 25,193,919 (GRCm39) |
H392Q |
probably benign |
Het |
| Gzmn |
A |
G |
14: 56,405,319 (GRCm39) |
V55A |
probably damaging |
Het |
| Herc4 |
T |
A |
10: 63,124,876 (GRCm39) |
S497T |
probably benign |
Het |
| Hrc |
A |
T |
7: 44,985,515 (GRCm39) |
D222V |
probably damaging |
Het |
| Iars2 |
T |
C |
1: 185,026,966 (GRCm39) |
H761R |
probably damaging |
Het |
| Jmjd1c |
T |
A |
10: 67,076,480 (GRCm39) |
D2101E |
possibly damaging |
Het |
| Kcng1 |
C |
T |
2: 168,105,053 (GRCm39) |
M264I |
probably benign |
Het |
| Klra14-ps |
C |
A |
6: 130,134,646 (GRCm39) |
|
noncoding transcript |
Het |
| Krtap5-3 |
T |
A |
7: 141,755,974 (GRCm39) |
C270* |
probably null |
Het |
| Lama3 |
A |
G |
18: 12,710,957 (GRCm39) |
H3164R |
probably damaging |
Het |
| Lcor |
T |
C |
19: 41,574,371 (GRCm39) |
I1042T |
probably damaging |
Het |
| Mdn1 |
T |
C |
4: 32,741,418 (GRCm39) |
M3840T |
possibly damaging |
Het |
| Mtor |
A |
T |
4: 148,538,440 (GRCm39) |
H166L |
probably benign |
Het |
| Mx1 |
T |
C |
16: 97,249,560 (GRCm39) |
N556D |
possibly damaging |
Het |
| Oca2 |
A |
T |
7: 55,945,246 (GRCm39) |
R285* |
probably null |
Het |
| Or12d13 |
T |
A |
17: 37,647,704 (GRCm39) |
I140F |
probably benign |
Het |
| Or2at1 |
A |
G |
7: 99,416,717 (GRCm39) |
E116G |
probably damaging |
Het |
| Or4k39 |
T |
C |
2: 111,239,631 (GRCm39) |
|
noncoding transcript |
Het |
| Or56a3b |
G |
A |
7: 104,775,771 (GRCm39) |
H246Y |
probably damaging |
Het |
| Or8g33 |
A |
T |
9: 39,337,919 (GRCm39) |
Y149* |
probably null |
Het |
| Pan3 |
A |
G |
5: 147,391,915 (GRCm39) |
|
probably null |
Het |
| Pard3 |
G |
A |
8: 128,104,745 (GRCm39) |
V496M |
probably damaging |
Het |
| Pdcd2l |
A |
T |
7: 33,892,314 (GRCm39) |
V185D |
possibly damaging |
Het |
| Pgghg |
T |
C |
7: 140,526,477 (GRCm39) |
V623A |
possibly damaging |
Het |
| Pigu |
C |
A |
2: 155,177,249 (GRCm39) |
|
probably benign |
Het |
| Pkmyt1 |
G |
A |
17: 23,951,566 (GRCm39) |
R40Q |
probably benign |
Het |
| Prag1 |
G |
A |
8: 36,567,043 (GRCm39) |
A65T |
probably benign |
Het |
| Prkdc |
C |
A |
16: 15,589,985 (GRCm39) |
T2616N |
possibly damaging |
Het |
| Prpf8 |
G |
A |
11: 75,391,030 (GRCm39) |
E1360K |
probably benign |
Het |
| Ptprt |
C |
T |
2: 162,120,084 (GRCm39) |
V128M |
probably damaging |
Het |
| Rp1l1 |
C |
T |
14: 64,267,462 (GRCm39) |
S1016L |
probably benign |
Het |
| Rprd1a |
G |
T |
18: 24,621,257 (GRCm39) |
D307E |
probably damaging |
Het |
| Slc11a1 |
A |
T |
1: 74,422,936 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,457,386 (GRCm39) |
M209K |
probably damaging |
Het |
| Slf2 |
T |
G |
19: 44,936,476 (GRCm39) |
L707R |
probably damaging |
Het |
| Son |
T |
A |
16: 91,453,563 (GRCm39) |
M770K |
probably damaging |
Het |
| Taf6l |
T |
C |
19: 8,755,417 (GRCm39) |
|
probably benign |
Het |
| Tbc1d2 |
C |
A |
4: 46,614,006 (GRCm39) |
V692L |
probably benign |
Het |
| Txndc16 |
A |
T |
14: 45,448,597 (GRCm39) |
|
probably benign |
Het |
| Ubr1 |
T |
C |
2: 120,734,525 (GRCm39) |
K1125R |
probably benign |
Het |
| Vmn2r9 |
A |
G |
5: 108,994,351 (GRCm39) |
S433P |
probably benign |
Het |
| Zc3h12a |
A |
G |
4: 125,020,706 (GRCm39) |
S46P |
probably benign |
Het |
| Zwilch |
T |
G |
9: 64,054,156 (GRCm39) |
I490L |
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 |
|
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'- CCACCCCTGCTTTTAAAGTAGC -3'
(R):5'- TGCTTAATCTAGCACAAAGGCTC -3'
Sequencing Primer
(F):5'- CCCCTGCTTTTAAAGTAGCAAGAG -3'
(R):5'- TCTAGCACAAAGGCTCAGATAAAG -3'
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| Posted On |
2016-07-22 |
Incidental Mutation