Incidental Mutation 'IGL01959:Tnpo3'
| ID |
182339 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01959
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 29589019 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 |
|
| Validation Efficiency |
|
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9230009I02Rik |
T |
C |
11: 50,982,645 (GRCm39) |
|
noncoding transcript |
Het |
| Aip |
A |
G |
19: 4,171,397 (GRCm39) |
I13T |
probably damaging |
Het |
| Cacna2d1 |
C |
T |
5: 16,417,895 (GRCm39) |
P140S |
probably benign |
Het |
| Cald1 |
A |
G |
6: 34,730,403 (GRCm39) |
D40G |
probably damaging |
Het |
| Cep250 |
T |
A |
2: 155,825,279 (GRCm39) |
V1052E |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,962,435 (GRCm39) |
N731D |
probably damaging |
Het |
| Chml |
C |
T |
1: 175,515,166 (GRCm39) |
V252I |
probably benign |
Het |
| Cog8 |
T |
C |
8: 107,783,010 (GRCm39) |
Y93C |
probably damaging |
Het |
| Creld1 |
G |
A |
6: 113,469,794 (GRCm39) |
A399T |
probably damaging |
Het |
| Cyp2a4 |
T |
A |
7: 26,007,133 (GRCm39) |
V80E |
probably damaging |
Het |
| Cyp2c37 |
T |
A |
19: 39,984,277 (GRCm39) |
L255* |
probably null |
Het |
| Cyp2d12 |
C |
A |
15: 82,439,545 (GRCm39) |
|
probably benign |
Het |
| Dimt1 |
A |
G |
13: 107,089,963 (GRCm39) |
I229V |
probably benign |
Het |
| Dsc1 |
G |
A |
18: 20,230,282 (GRCm39) |
T341I |
probably damaging |
Het |
| Ercc3 |
T |
A |
18: 32,390,411 (GRCm39) |
F567I |
probably damaging |
Het |
| Espl1 |
C |
A |
15: 102,214,097 (GRCm39) |
|
probably benign |
Het |
| Fcrl2 |
T |
C |
3: 87,166,939 (GRCm39) |
D18G |
probably damaging |
Het |
| Fnip1 |
T |
A |
11: 54,381,738 (GRCm39) |
S296R |
possibly damaging |
Het |
| Fzd5 |
C |
A |
1: 64,775,105 (GRCm39) |
A219S |
possibly damaging |
Het |
| Gbp7 |
A |
G |
3: 142,247,108 (GRCm39) |
|
probably benign |
Het |
| Gm3298 |
T |
C |
14: 5,018,731 (GRCm38) |
L162S |
probably damaging |
Het |
| Hspa1l |
A |
G |
17: 35,196,111 (GRCm39) |
E50G |
probably damaging |
Het |
| Ipo9 |
T |
C |
1: 135,348,093 (GRCm39) |
|
probably null |
Het |
| Kazn |
A |
G |
4: 141,878,195 (GRCm39) |
L185P |
probably damaging |
Het |
| Kcnh8 |
T |
C |
17: 53,141,635 (GRCm39) |
S293P |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,202,539 (GRCm39) |
T1191A |
probably damaging |
Het |
| Mnat1 |
A |
G |
12: 73,228,705 (GRCm39) |
|
probably benign |
Het |
| Msx2 |
C |
T |
13: 53,622,638 (GRCm39) |
|
probably benign |
Het |
| Ndufs2 |
T |
G |
1: 171,064,798 (GRCm39) |
I317L |
probably benign |
Het |
| Nms |
T |
C |
1: 38,981,006 (GRCm39) |
|
probably benign |
Het |
| Oosp3 |
T |
A |
19: 11,678,286 (GRCm39) |
F87L |
probably benign |
Het |
| Pask |
A |
G |
1: 93,262,329 (GRCm39) |
V177A |
probably benign |
Het |
| Poldip2 |
G |
T |
11: 78,403,133 (GRCm39) |
|
probably benign |
Het |
| Prr14l |
A |
T |
5: 32,987,549 (GRCm39) |
S649T |
possibly damaging |
Het |
| Slc6a18 |
T |
A |
13: 73,825,984 (GRCm39) |
N22I |
probably damaging |
Het |
| Smco2 |
T |
A |
6: 146,763,208 (GRCm39) |
S228T |
probably benign |
Het |
| Speer4a1 |
G |
A |
5: 26,240,902 (GRCm39) |
Q197* |
probably null |
Het |
| Speg |
A |
G |
1: 75,367,734 (GRCm39) |
K641R |
probably damaging |
Het |
| Strip2 |
G |
A |
6: 29,928,553 (GRCm39) |
V286M |
probably damaging |
Het |
| Tnfrsf22 |
C |
T |
7: 143,197,012 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
A |
14: 16,422,695 (GRCm38) |
N1377K |
probably benign |
Het |
| Trmt1 |
T |
A |
8: 85,418,005 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
A |
G |
7: 63,858,723 (GRCm39) |
M266V |
possibly damaging |
Het |
| Vmn1r199 |
A |
G |
13: 22,567,290 (GRCm39) |
T195A |
probably benign |
Het |
| Vmn2r10 |
A |
G |
5: 109,145,571 (GRCm39) |
V512A |
probably benign |
Het |
| Zfp777 |
A |
G |
6: 48,021,275 (GRCm39) |
F116L |
probably benign |
Het |
| Zp3r |
T |
A |
1: 130,519,188 (GRCm39) |
K253* |
probably null |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation