Incidental Mutation 'R1816:Tnpo3'
| ID |
204419 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
039844-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1816 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29557016 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 745
(H745R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012679
AA Change: H745R
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: H745R
| 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: H745R
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: H745R
| 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 |
unknown
Transcript: ENSMUST00000170647
AA Change: H62R
|
| SMART Domains |
Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535
AA Change: H62R
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
2 |
187 |
1e-5 |
SMART |
|
PDB:4C0P|D
|
2 |
247 |
1e-156 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171865
|
| Meta Mutation Damage Score |
0.1614 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.9%
|
| Validation Efficiency |
99% (72/73) |
| 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: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,644,222 (GRCm39) |
Y721* |
probably null |
Het |
| 4933405L10Rik |
T |
A |
8: 106,436,491 (GRCm39) |
V220E |
possibly damaging |
Het |
| 4933434E20Rik |
T |
C |
3: 89,960,398 (GRCm39) |
V13A |
possibly damaging |
Het |
| Adam1b |
T |
G |
5: 121,639,788 (GRCm39) |
Q419P |
probably damaging |
Het |
| Ankib1 |
A |
G |
5: 3,784,028 (GRCm39) |
V316A |
probably benign |
Het |
| Anks1 |
T |
A |
17: 28,205,547 (GRCm39) |
D294E |
probably damaging |
Het |
| Atr |
T |
C |
9: 95,748,747 (GRCm39) |
S431P |
probably benign |
Het |
| Bfsp1 |
C |
T |
2: 143,683,599 (GRCm39) |
A242T |
probably benign |
Het |
| Bptf |
A |
T |
11: 106,951,405 (GRCm39) |
V279E |
probably damaging |
Het |
| Camkk2 |
A |
G |
5: 122,872,243 (GRCm39) |
L540P |
probably damaging |
Het |
| Cd84 |
A |
G |
1: 171,700,317 (GRCm39) |
T145A |
possibly damaging |
Het |
| Ceacam12 |
T |
A |
7: 17,805,690 (GRCm39) |
|
probably null |
Het |
| Cntnap5a |
G |
T |
1: 116,356,618 (GRCm39) |
A823S |
probably benign |
Het |
| Cp |
T |
C |
3: 20,022,384 (GRCm39) |
|
probably benign |
Het |
| Dhx58 |
A |
G |
11: 100,593,978 (GRCm39) |
V163A |
probably damaging |
Het |
| Dicer1 |
T |
C |
12: 104,688,410 (GRCm39) |
E389G |
probably damaging |
Het |
| Disp1 |
T |
A |
1: 182,880,139 (GRCm39) |
D288V |
probably damaging |
Het |
| Dnah7a |
A |
G |
1: 53,670,901 (GRCm39) |
|
probably benign |
Het |
| Eaf2 |
T |
G |
16: 36,628,371 (GRCm39) |
|
probably benign |
Het |
| Efna1 |
T |
C |
3: 89,183,694 (GRCm39) |
N44S |
possibly damaging |
Het |
| Etnppl |
T |
C |
3: 130,428,211 (GRCm39) |
I462T |
probably benign |
Het |
| Fam83d |
G |
T |
2: 158,610,070 (GRCm39) |
A13S |
possibly damaging |
Het |
| Fer1l4 |
C |
T |
2: 155,877,119 (GRCm39) |
V1139M |
probably damaging |
Het |
| Fstl1 |
A |
G |
16: 37,647,086 (GRCm39) |
|
probably null |
Het |
| Gm14226 |
A |
T |
2: 154,867,549 (GRCm39) |
D502V |
probably damaging |
Het |
| Gm5117 |
T |
A |
8: 32,228,986 (GRCm39) |
|
noncoding transcript |
Het |
| Gm973 |
A |
G |
1: 59,621,558 (GRCm39) |
N566S |
probably damaging |
Het |
| Grm7 |
A |
T |
6: 111,472,752 (GRCm39) |
K16* |
probably null |
Het |
| Hbb-bh2 |
G |
A |
7: 103,489,585 (GRCm39) |
T17I |
possibly damaging |
Het |
| Htt |
C |
T |
5: 34,961,084 (GRCm39) |
A237V |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,671,153 (GRCm39) |
V665A |
probably benign |
Het |
| Klf4 |
G |
T |
4: 55,530,977 (GRCm39) |
R45S |
probably benign |
Het |
| Mki67 |
T |
C |
7: 135,309,116 (GRCm39) |
D445G |
possibly damaging |
Het |
| Myo10 |
T |
C |
15: 25,800,286 (GRCm39) |
V1454A |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nudt12 |
G |
A |
17: 59,317,131 (GRCm39) |
P172L |
probably damaging |
Het |
| Odam |
A |
G |
5: 88,037,329 (GRCm39) |
|
probably null |
Het |
| Or1e33 |
T |
C |
11: 73,738,025 (GRCm39) |
K309E |
probably benign |
Het |
| Or2ag13 |
A |
T |
7: 106,472,695 (GRCm39) |
Y252* |
probably null |
Het |
| Or4p18 |
T |
G |
2: 88,232,943 (GRCm39) |
I112L |
possibly damaging |
Het |
| Or5g29 |
G |
T |
2: 85,421,269 (GRCm39) |
K128N |
probably benign |
Het |
| Or5p80 |
T |
C |
7: 108,229,364 (GRCm39) |
L55P |
probably damaging |
Het |
| Or8k33 |
A |
T |
2: 86,384,011 (GRCm39) |
C152* |
probably null |
Het |
| Pcm1 |
T |
A |
8: 41,762,574 (GRCm39) |
S1412T |
probably damaging |
Het |
| Pgap1 |
A |
G |
1: 54,531,216 (GRCm39) |
L753P |
probably damaging |
Het |
| Pi4k2b |
T |
C |
5: 52,908,088 (GRCm39) |
S153P |
probably damaging |
Het |
| Pik3c2b |
C |
T |
1: 133,029,108 (GRCm39) |
A1398V |
probably benign |
Het |
| Pkhd1l1 |
T |
C |
15: 44,391,635 (GRCm39) |
I1567T |
possibly damaging |
Het |
| Rapgef6 |
G |
A |
11: 54,585,314 (GRCm39) |
V1571I |
probably benign |
Het |
| Rfx2 |
C |
A |
17: 57,115,305 (GRCm39) |
E5* |
probably null |
Het |
| Sh3tc1 |
C |
A |
5: 35,857,928 (GRCm39) |
|
probably null |
Het |
| Slc22a12 |
G |
A |
19: 6,592,683 (GRCm39) |
Q20* |
probably null |
Het |
| Slc4a1 |
A |
G |
11: 102,242,056 (GRCm39) |
C861R |
probably damaging |
Het |
| Snrnp25 |
G |
A |
11: 32,157,565 (GRCm39) |
V48I |
probably damaging |
Het |
| Spata1 |
G |
T |
3: 146,186,962 (GRCm39) |
P211Q |
probably damaging |
Het |
| Srgap1 |
G |
A |
10: 121,761,876 (GRCm39) |
Q91* |
probably null |
Het |
| Stab1 |
T |
C |
14: 30,879,422 (GRCm39) |
D686G |
probably benign |
Het |
| Stx8 |
T |
A |
11: 67,902,152 (GRCm39) |
M112K |
possibly damaging |
Het |
| Tfap2b |
A |
T |
1: 19,279,436 (GRCm39) |
K15N |
probably damaging |
Het |
| Thbs2 |
C |
A |
17: 14,890,975 (GRCm39) |
D1052Y |
probably benign |
Het |
| Thbs2 |
T |
A |
17: 14,890,976 (GRCm39) |
E1051D |
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,665,700 (GRCm39) |
D74G |
probably benign |
Het |
| Tlr2 |
T |
C |
3: 83,745,516 (GRCm39) |
Y189C |
probably damaging |
Het |
| Tmem268 |
C |
A |
4: 63,483,947 (GRCm39) |
P55T |
possibly damaging |
Het |
| Trappc14 |
A |
G |
5: 138,258,603 (GRCm39) |
V548A |
possibly damaging |
Het |
| Ube2s |
T |
C |
7: 4,814,554 (GRCm39) |
N2S |
probably damaging |
Het |
| Ulk1 |
A |
G |
5: 110,935,697 (GRCm39) |
Y39H |
probably damaging |
Het |
| Vmn1r49 |
G |
T |
6: 90,049,785 (GRCm39) |
D72E |
possibly damaging |
Het |
| Vmn2r27 |
C |
A |
6: 124,207,330 (GRCm39) |
G104* |
probably null |
Het |
| Vmn2r92 |
A |
G |
17: 18,386,939 (GRCm39) |
I93V |
probably damaging |
Het |
| Zdhhc20 |
A |
T |
14: 58,127,600 (GRCm39) |
V13E |
probably benign |
Het |
| Zfp958 |
A |
T |
8: 4,679,147 (GRCm39) |
I391F |
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 |
|
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'- TGACACATTTCTAGCCCGCC -3'
(R):5'- GGCAAGGGTTCTCTTTTCCTAATC -3'
Sequencing Primer
(F):5'- TGCTGCCAAAGAGATTATGAATC -3'
(R):5'- CTACTCATTACAGTCTTGTCATTGTG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation