Incidental Mutation 'R2077:Tnpo3'
| ID |
229208 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
040082-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2077 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29586143 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 149
(V149A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000012679
AA Change: V149A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: V149A
| 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 |
possibly damaging
Transcript: ENSMUST00000115251
AA Change: V149A
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: V149A
| 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: ENSMUST00000167056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170634
|
| Meta Mutation Damage Score |
0.8650 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
98% (48/49) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl3 |
T |
A |
4: 144,183,604 (GRCm39) |
|
probably benign |
Het |
| Abhd16b |
A |
C |
2: 181,135,209 (GRCm39) |
D37A |
probably benign |
Het |
| Acp7 |
T |
C |
7: 28,328,907 (GRCm39) |
E91G |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,599,291 (GRCm39) |
N1841K |
possibly damaging |
Het |
| Arhgap25 |
T |
A |
6: 87,436,990 (GRCm39) |
D620V |
probably damaging |
Het |
| Caps2 |
C |
T |
10: 112,035,632 (GRCm39) |
T371I |
possibly damaging |
Het |
| Ccdc175 |
A |
G |
12: 72,186,794 (GRCm39) |
I350T |
possibly damaging |
Het |
| Cdc25c |
G |
C |
18: 34,871,292 (GRCm39) |
L275V |
probably damaging |
Het |
| Cdc42bpb |
A |
G |
12: 111,265,630 (GRCm39) |
L1434P |
probably damaging |
Het |
| Cdkl3 |
A |
T |
11: 51,917,666 (GRCm39) |
E321V |
probably damaging |
Het |
| Clec2d |
G |
T |
6: 129,160,153 (GRCm39) |
V56L |
possibly damaging |
Het |
| Cops3 |
A |
T |
11: 59,715,136 (GRCm39) |
S301T |
possibly damaging |
Het |
| Crygd |
T |
C |
1: 65,102,405 (GRCm39) |
D19G |
probably damaging |
Het |
| Dnah2 |
T |
C |
11: 69,387,432 (GRCm39) |
I931M |
possibly damaging |
Het |
| Dst |
A |
T |
1: 34,250,251 (GRCm39) |
R4068S |
probably damaging |
Het |
| Fas |
C |
T |
19: 34,297,953 (GRCm39) |
|
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,967,594 (GRCm39) |
D456E |
probably damaging |
Het |
| Galnt18 |
G |
A |
7: 111,153,809 (GRCm39) |
R272W |
probably damaging |
Het |
| Grb2 |
C |
A |
11: 115,536,651 (GRCm39) |
G200W |
probably damaging |
Het |
| Herc4 |
A |
G |
10: 63,099,832 (GRCm39) |
N85S |
probably benign |
Het |
| Ighv7-2 |
T |
C |
12: 113,875,727 (GRCm39) |
D92G |
probably damaging |
Het |
| Itih3 |
A |
G |
14: 30,631,792 (GRCm39) |
V765A |
possibly damaging |
Het |
| Itm2b |
T |
C |
14: 73,600,560 (GRCm39) |
N247D |
probably benign |
Het |
| Kcnd3 |
T |
C |
3: 105,574,315 (GRCm39) |
V500A |
probably benign |
Het |
| Lrp2 |
C |
T |
2: 69,338,187 (GRCm39) |
G1198R |
probably damaging |
Het |
| Ltb4r2 |
A |
G |
14: 55,999,444 (GRCm39) |
T22A |
probably damaging |
Het |
| Mdga2 |
A |
G |
12: 66,702,136 (GRCm39) |
V355A |
probably damaging |
Het |
| Megf8 |
T |
A |
7: 25,053,163 (GRCm39) |
V1778E |
probably benign |
Het |
| Mroh2b |
G |
A |
15: 4,974,448 (GRCm39) |
E1143K |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,979,389 (GRCm39) |
Y458F |
probably damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,781,856 (GRCm39) |
C534R |
probably benign |
Het |
| Nup155 |
A |
G |
15: 8,172,510 (GRCm39) |
E832G |
probably damaging |
Het |
| Or5w11 |
A |
G |
2: 87,459,173 (GRCm39) |
Y122C |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,913,857 (GRCm39) |
T289A |
probably benign |
Het |
| Ptprs |
C |
T |
17: 56,741,990 (GRCm39) |
R7Q |
probably null |
Het |
| Rab3ip |
A |
T |
10: 116,754,865 (GRCm39) |
D198E |
possibly damaging |
Het |
| Scaf4 |
A |
T |
16: 90,049,323 (GRCm39) |
F255I |
unknown |
Het |
| Senp6 |
T |
C |
9: 80,033,437 (GRCm39) |
S475P |
probably benign |
Het |
| Shpk |
T |
C |
11: 73,094,785 (GRCm39) |
L67P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,130,801 (GRCm39) |
Y1246N |
probably damaging |
Het |
| Slc44a2 |
A |
G |
9: 21,265,020 (GRCm39) |
Y686C |
probably damaging |
Het |
| Slc6a19 |
A |
G |
13: 73,848,685 (GRCm39) |
V23A |
probably benign |
Het |
| Slit3 |
A |
T |
11: 35,435,575 (GRCm39) |
I169F |
possibly damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,056,637 (GRCm39) |
V379A |
possibly damaging |
Het |
| Tex2 |
T |
C |
11: 106,397,690 (GRCm39) |
|
probably null |
Het |
| Vmn1r158 |
T |
A |
7: 22,489,815 (GRCm39) |
R131S |
probably benign |
Het |
| Vmn2r24 |
T |
A |
6: 123,792,358 (GRCm39) |
C562S |
probably damaging |
Het |
| Wipi1 |
T |
C |
11: 109,468,490 (GRCm39) |
N368S |
probably benign |
Het |
| Zbtb41 |
T |
C |
1: 139,351,831 (GRCm39) |
S315P |
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 |
|
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'- GTAGTATCACGGCCACATTTG -3'
(R):5'- TCATTTCTTCTTAATGTTTGGAATGC -3'
Sequencing Primer
(F):5'- GAAAGCTGCCTCATATTGCTG -3'
(R):5'- CTTAATGTTTGGAATGCTGCGTTTG -3'
|
| Posted On |
2014-09-17 |
Incidental Mutation