Incidental Mutation 'R2377:Tnpo3'
ID |
248312 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnpo3
|
Ensembl Gene |
ENSMUSG00000012535 |
Gene Name |
transportin 3 |
Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
MMRRC Submission |
040354-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2377 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 29579618 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 258
(N258K)
|
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: N258K
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000012679 Gene: ENSMUSG00000012535 AA Change: N258K
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: N258K
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000110906 Gene: ENSMUSG00000012535 AA Change: N258K
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: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.0%
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
A |
G |
16: 14,285,787 (GRCm39) |
D1304G |
probably damaging |
Het |
Adamts10 |
C |
A |
17: 33,747,866 (GRCm39) |
H101N |
probably damaging |
Het |
Apaf1 |
T |
A |
10: 90,915,755 (GRCm39) |
K44N |
possibly damaging |
Het |
Aqr |
A |
T |
2: 113,971,421 (GRCm39) |
N471K |
possibly damaging |
Het |
Blvrb |
T |
A |
7: 27,159,024 (GRCm39) |
I94N |
probably damaging |
Het |
Ccdc38 |
C |
T |
10: 93,409,897 (GRCm39) |
P239S |
probably damaging |
Het |
Chst4 |
T |
A |
8: 110,756,804 (GRCm39) |
Y270F |
possibly damaging |
Het |
Col5a1 |
T |
C |
2: 27,818,189 (GRCm39) |
F138S |
unknown |
Het |
Dhx32 |
G |
T |
7: 133,326,207 (GRCm39) |
H407N |
probably damaging |
Het |
Dock3 |
G |
A |
9: 106,773,090 (GRCm39) |
P388S |
probably damaging |
Het |
Fbxo10 |
A |
C |
4: 45,044,719 (GRCm39) |
Y639D |
probably benign |
Het |
Fsip2 |
A |
G |
2: 82,806,593 (GRCm39) |
T971A |
probably benign |
Het |
Gli2 |
C |
T |
1: 118,764,855 (GRCm39) |
A1099T |
possibly damaging |
Het |
Hr |
C |
T |
14: 70,795,318 (GRCm39) |
L317F |
probably damaging |
Het |
Ice1 |
G |
A |
13: 70,750,899 (GRCm39) |
A1729V |
probably damaging |
Het |
Mcc |
C |
G |
18: 44,652,616 (GRCm39) |
K269N |
probably damaging |
Het |
Miga2 |
T |
A |
2: 30,274,002 (GRCm39) |
C83* |
probably null |
Het |
Msl1 |
A |
G |
11: 98,694,789 (GRCm39) |
R273G |
probably damaging |
Het |
Msl3l2 |
T |
C |
10: 55,991,659 (GRCm39) |
I128T |
probably damaging |
Het |
Ntrk1 |
T |
A |
3: 87,698,714 (GRCm39) |
D109V |
possibly damaging |
Het |
Or14j5 |
A |
G |
17: 38,161,498 (GRCm39) |
N5S |
probably damaging |
Het |
Or4b13 |
A |
G |
2: 90,083,255 (GRCm39) |
F26L |
probably damaging |
Het |
Or4f14b |
A |
T |
2: 111,774,988 (GRCm39) |
L271Q |
probably damaging |
Het |
Or5b97 |
T |
A |
19: 12,878,217 (GRCm39) |
Y309F |
possibly damaging |
Het |
Pcmtd2 |
A |
G |
2: 181,497,072 (GRCm39) |
|
probably benign |
Het |
Polr1a |
T |
C |
6: 71,949,810 (GRCm39) |
|
probably null |
Het |
Ptk2b |
T |
A |
14: 66,409,997 (GRCm39) |
I452F |
possibly damaging |
Het |
Rad21 |
A |
G |
15: 51,831,834 (GRCm39) |
F416L |
probably damaging |
Het |
Scn5a |
A |
T |
9: 119,368,793 (GRCm39) |
I244N |
probably damaging |
Het |
Sla2 |
G |
A |
2: 156,717,862 (GRCm39) |
R137C |
probably damaging |
Het |
Uba6 |
T |
C |
5: 86,272,229 (GRCm39) |
D789G |
possibly damaging |
Het |
Vmn1r226 |
T |
G |
17: 20,907,992 (GRCm39) |
L75V |
probably benign |
Het |
Zfp729b |
A |
C |
13: 67,739,820 (GRCm39) |
V815G |
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 |
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 |
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'- GGCACTTCAGATAGCATGCAC -3'
(R):5'- TGGGGCTGTTCATAATGTACTC -3'
Sequencing Primer
(F):5'- GCATGCACTTTATATTCACAAAGCC -3'
(R):5'- ATTTCTGTAATCCTAGCACGGGGAAG -3'
|
Posted On |
2014-11-11 |