Incidental Mutation 'R8297:Tnpo3'
| ID |
639009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
067853-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8297 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 29582302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 187
(C187S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000012679
AA Change: C187S
PolyPhen 2
Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: C187S
| 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 damaging
Transcript: ENSMUST00000115251
AA Change: C187S
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: C187S
| 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
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (61/61) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020N01Rik |
T |
C |
10: 21,497,578 (GRCm39) |
L73P |
probably damaging |
Het |
| 4933412E24Rik |
T |
G |
15: 59,887,524 (GRCm39) |
R305S |
probably damaging |
Het |
| Adamts19 |
T |
A |
18: 58,970,920 (GRCm39) |
V168E |
probably damaging |
Het |
| Ankrd34b |
T |
A |
13: 92,576,097 (GRCm39) |
L443Q |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,491,616 (GRCm39) |
Y887H |
probably damaging |
Het |
| Arhgef2 |
A |
T |
3: 88,546,739 (GRCm39) |
H553L |
probably benign |
Het |
| Atxn1 |
G |
T |
13: 45,720,505 (GRCm39) |
N463K |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,932,099 (GRCm39) |
|
probably null |
Het |
| C4bp |
A |
G |
1: 130,564,482 (GRCm39) |
S401P |
probably damaging |
Het |
| Cd5 |
T |
A |
19: 10,697,609 (GRCm39) |
R457W |
probably damaging |
Het |
| Chek2 |
T |
G |
5: 110,996,302 (GRCm39) |
Y127D |
probably damaging |
Het |
| Clec4a1 |
G |
A |
6: 122,898,960 (GRCm39) |
V10M |
probably damaging |
Het |
| Cltc |
A |
G |
11: 86,603,457 (GRCm39) |
Y790H |
probably damaging |
Het |
| Cops2 |
T |
C |
2: 125,701,028 (GRCm39) |
|
probably benign |
Het |
| Cyb5d2 |
A |
G |
11: 72,679,929 (GRCm39) |
F122S |
probably damaging |
Het |
| Daam1 |
T |
A |
12: 71,998,689 (GRCm39) |
L548H |
unknown |
Het |
| Dcp1a |
A |
G |
14: 30,244,883 (GRCm39) |
T570A |
possibly damaging |
Het |
| Dsg1a |
A |
C |
18: 20,465,090 (GRCm39) |
N427T |
probably benign |
Het |
| Ear14 |
A |
T |
14: 51,441,564 (GRCm39) |
D140V |
probably damaging |
Het |
| Epha4 |
A |
C |
1: 77,483,547 (GRCm39) |
F154C |
probably damaging |
Het |
| Ets2 |
G |
A |
16: 95,507,321 (GRCm39) |
V12M |
probably damaging |
Het |
| Fbxo40 |
G |
A |
16: 36,789,670 (GRCm39) |
T480I |
probably damaging |
Het |
| Fdps |
A |
T |
3: 89,001,048 (GRCm39) |
Y322N |
probably damaging |
Het |
| Gca |
T |
C |
2: 62,516,700 (GRCm39) |
M132T |
probably benign |
Het |
| Ifi203 |
T |
G |
1: 173,765,496 (GRCm39) |
K26T |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,562,116 (GRCm39) |
R668G |
probably damaging |
Het |
| Itgal |
T |
C |
7: 126,929,638 (GRCm39) |
I1185T |
unknown |
Het |
| Kcnj13 |
A |
T |
1: 87,314,189 (GRCm39) |
N344K |
probably damaging |
Het |
| Kdm5a |
A |
T |
6: 120,358,516 (GRCm39) |
L186F |
probably benign |
Het |
| Klhl8 |
T |
C |
5: 104,010,954 (GRCm39) |
N624D |
probably benign |
Het |
| Klrb1 |
G |
T |
6: 128,689,222 (GRCm39) |
T83K |
possibly damaging |
Het |
| Krt77 |
TGCCGCCGCCGCCGCCGCCGCCGCCGC |
TGCCGCCGCCGCCGCCGCCGCCGC |
15: 101,768,407 (GRCm39) |
|
probably benign |
Het |
| Ltb |
G |
T |
17: 35,413,655 (GRCm39) |
R53L |
probably benign |
Het |
| Mterf3 |
A |
G |
13: 67,055,222 (GRCm39) |
V69A |
|
Het |
| Mvb12a |
A |
G |
8: 71,997,888 (GRCm39) |
K101E |
probably damaging |
Het |
| Nbeal2 |
T |
A |
9: 110,464,409 (GRCm39) |
Q1110L |
possibly damaging |
Het |
| Neb |
T |
A |
2: 52,198,775 (GRCm39) |
T389S |
possibly damaging |
Het |
| Nol4 |
A |
G |
18: 23,173,069 (GRCm39) |
F11L |
probably damaging |
Het |
| Or10p22 |
T |
C |
10: 128,826,708 (GRCm39) |
L309P |
possibly damaging |
Het |
| Or2a54 |
A |
G |
6: 43,093,440 (GRCm39) |
I255V |
probably benign |
Het |
| Or2h15 |
A |
G |
17: 38,441,484 (GRCm39) |
S200P |
probably damaging |
Het |
| Or52e8b |
C |
T |
7: 104,673,885 (GRCm39) |
G97R |
probably benign |
Het |
| Pde2a |
T |
A |
7: 101,153,880 (GRCm39) |
Y487N |
possibly damaging |
Het |
| Pde4a |
C |
T |
9: 21,077,404 (GRCm39) |
P61S |
possibly damaging |
Het |
| Pramel16 |
T |
A |
4: 143,675,690 (GRCm39) |
T379S |
probably benign |
Het |
| Prr5l |
A |
G |
2: 101,571,630 (GRCm39) |
|
probably null |
Het |
| Ptpn6 |
G |
A |
6: 124,705,614 (GRCm39) |
T179I |
possibly damaging |
Het |
| Ralyl |
T |
C |
3: 14,104,836 (GRCm39) |
S34P |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Robo2 |
A |
T |
16: 73,812,814 (GRCm39) |
C293* |
probably null |
Het |
| Rtn4 |
T |
G |
11: 29,655,536 (GRCm39) |
D169E |
probably damaging |
Het |
| Slc22a22 |
A |
T |
15: 57,122,506 (GRCm39) |
V157E |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,034,283 (GRCm39) |
T498A |
probably benign |
Het |
| Tgm6 |
G |
A |
2: 129,979,358 (GRCm39) |
V163I |
probably benign |
Het |
| Ttn |
A |
G |
2: 76,616,485 (GRCm39) |
|
probably null |
Het |
| Tut4 |
G |
A |
4: 108,336,905 (GRCm39) |
A210T |
possibly damaging |
Het |
| Vangl2 |
C |
A |
1: 171,837,513 (GRCm39) |
V99F |
possibly damaging |
Het |
| Vmn1r167 |
C |
T |
7: 23,204,215 (GRCm39) |
C267Y |
probably damaging |
Het |
| Vsig10l |
T |
C |
7: 43,113,531 (GRCm39) |
V161A |
possibly damaging |
Het |
| Xrcc5 |
G |
A |
1: 72,364,244 (GRCm39) |
R232Q |
possibly damaging |
Het |
| Xrcc6 |
C |
G |
15: 81,913,463 (GRCm39) |
F365L |
probably damaging |
Het |
| Zdhhc13 |
A |
G |
7: 48,465,257 (GRCm39) |
Y389C |
probably 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 |
|
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'- TTATTAAAAGTGGCAATGGCAGGTG -3'
(R):5'- AACCTCATGGCAGCTAGGATG -3'
Sequencing Primer
(F):5'- GGTGCAGCCTTACTTACCAAG -3'
(R):5'- CAGCTAGGATGTTTCAAGCCTACG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation