Incidental Mutation 'R4830:Tnpo3'
ID |
372734 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnpo3
|
Ensembl Gene |
ENSMUSG00000012535 |
Gene Name |
transportin 3 |
Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
MMRRC Submission |
042446-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4830 (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 29568937 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 472
(T472A)
|
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: T472A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000012679 Gene: ENSMUSG00000012535 AA Change: T472A
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: T472A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000110906 Gene: ENSMUSG00000012535 AA Change: T472A
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: ENSMUST00000169302
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201797
|
Meta Mutation Damage Score |
0.0631 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.5%
|
Validation Efficiency |
97% (71/73) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcd3 |
C |
A |
3: 121,553,933 (GRCm39) |
G643V |
probably damaging |
Het |
Adamtsl1 |
A |
G |
4: 86,274,619 (GRCm39) |
E1225G |
probably damaging |
Het |
Agbl5 |
G |
A |
5: 31,048,059 (GRCm39) |
R111H |
probably damaging |
Het |
Ankle2 |
A |
C |
5: 110,389,879 (GRCm39) |
K446Q |
probably damaging |
Het |
Boc |
A |
C |
16: 44,310,520 (GRCm39) |
M800R |
probably damaging |
Het |
Ccnt1 |
A |
T |
15: 98,441,332 (GRCm39) |
N645K |
probably damaging |
Het |
Cd93 |
G |
A |
2: 148,285,299 (GRCm39) |
Q16* |
probably null |
Het |
Cpsf4l |
G |
T |
11: 113,600,328 (GRCm39) |
|
probably benign |
Het |
Cuzd1 |
T |
A |
7: 130,919,783 (GRCm39) |
D111V |
probably damaging |
Het |
Dab2 |
T |
C |
15: 6,457,008 (GRCm39) |
C232R |
probably benign |
Het |
Dmpk |
A |
T |
7: 18,821,453 (GRCm39) |
Y237F |
probably damaging |
Het |
Dnah6 |
T |
A |
6: 73,021,745 (GRCm39) |
T3526S |
possibly damaging |
Het |
Dock2 |
T |
C |
11: 34,223,767 (GRCm39) |
|
probably null |
Het |
Dsp |
G |
A |
13: 38,376,840 (GRCm39) |
V1542I |
probably benign |
Het |
Dst |
T |
A |
1: 34,237,586 (GRCm39) |
|
probably null |
Het |
Esd |
T |
C |
14: 74,978,600 (GRCm39) |
L54S |
probably damaging |
Het |
Exd1 |
C |
T |
2: 119,350,807 (GRCm39) |
A485T |
probably benign |
Het |
Gm3604 |
A |
T |
13: 62,516,857 (GRCm39) |
N500K |
probably damaging |
Het |
Grhl2 |
T |
A |
15: 37,335,903 (GRCm39) |
|
probably null |
Het |
Gsto1 |
C |
T |
19: 47,852,830 (GRCm39) |
R222C |
probably benign |
Het |
Inpp4a |
T |
A |
1: 37,410,861 (GRCm39) |
M343K |
probably damaging |
Het |
Itpripl2 |
T |
C |
7: 118,090,280 (GRCm39) |
Q93R |
probably benign |
Het |
Jakmip2 |
G |
A |
18: 43,700,208 (GRCm39) |
T450I |
probably benign |
Het |
Kdm6b |
A |
T |
11: 69,294,620 (GRCm39) |
I1186N |
unknown |
Het |
Kif1a |
T |
C |
1: 92,948,931 (GRCm39) |
|
probably null |
Het |
Klhl20 |
T |
C |
1: 160,925,946 (GRCm39) |
K434R |
probably benign |
Het |
Lemd3 |
T |
C |
10: 120,767,853 (GRCm39) |
D697G |
probably damaging |
Het |
Lipo3 |
A |
G |
19: 33,753,987 (GRCm39) |
S383P |
probably damaging |
Het |
Ltn1 |
C |
A |
16: 87,176,582 (GRCm39) |
K1741N |
probably damaging |
Het |
Lvrn |
A |
T |
18: 47,038,418 (GRCm39) |
T991S |
probably damaging |
Het |
Macroh2a2 |
C |
T |
10: 61,575,132 (GRCm39) |
D355N |
possibly damaging |
Het |
Mast3 |
C |
A |
8: 71,241,559 (GRCm39) |
R151L |
possibly damaging |
Het |
Mplkipl1 |
C |
T |
19: 61,164,364 (GRCm39) |
G24R |
unknown |
Het |
Muc4 |
G |
C |
16: 32,753,919 (GRCm38) |
R1265P |
probably benign |
Het |
Myoz1 |
T |
C |
14: 20,705,377 (GRCm39) |
K14E |
probably damaging |
Het |
Neb |
G |
T |
2: 52,082,532 (GRCm39) |
Q5450K |
probably damaging |
Het |
Nedd1 |
T |
A |
10: 92,522,120 (GRCm39) |
N639I |
probably damaging |
Het |
Nlrp4e |
A |
T |
7: 23,036,165 (GRCm39) |
N673Y |
probably benign |
Het |
Nop53 |
C |
T |
7: 15,676,129 (GRCm39) |
R190Q |
probably damaging |
Het |
Notch4 |
T |
C |
17: 34,789,092 (GRCm39) |
Y468H |
probably damaging |
Het |
Obscn |
T |
C |
11: 58,958,433 (GRCm39) |
T3507A |
probably damaging |
Het |
Opn5 |
T |
C |
17: 42,922,187 (GRCm39) |
H5R |
probably benign |
Het |
Or4l15 |
T |
C |
14: 50,197,681 (GRCm39) |
N283D |
probably damaging |
Het |
Patl1 |
T |
C |
19: 11,902,515 (GRCm39) |
M349T |
probably benign |
Het |
Phactr3 |
A |
G |
2: 177,925,811 (GRCm39) |
N362S |
probably damaging |
Het |
Pirb |
C |
T |
7: 3,720,602 (GRCm39) |
G299S |
probably benign |
Het |
Rapgef5 |
G |
A |
12: 117,719,809 (GRCm39) |
R579Q |
probably damaging |
Het |
Rgl1 |
T |
C |
1: 152,430,081 (GRCm39) |
D234G |
probably benign |
Het |
Serpinb3a |
C |
T |
1: 106,976,316 (GRCm39) |
E122K |
probably benign |
Het |
Slc22a15 |
T |
C |
3: 101,782,919 (GRCm39) |
|
probably benign |
Het |
Slc25a12 |
A |
T |
2: 71,127,149 (GRCm39) |
V344E |
probably damaging |
Het |
Slc43a2 |
T |
C |
11: 75,434,119 (GRCm39) |
L99P |
probably damaging |
Het |
Smim27 |
G |
T |
4: 40,269,719 (GRCm39) |
|
probably null |
Het |
Smtn |
A |
G |
11: 3,470,736 (GRCm39) |
|
probably benign |
Het |
Szt2 |
A |
T |
4: 118,226,445 (GRCm39) |
Y3001N |
unknown |
Het |
Tgfbr3 |
G |
T |
5: 107,257,585 (GRCm39) |
P825T |
probably damaging |
Het |
Trf |
T |
A |
9: 103,105,114 (GRCm39) |
D66V |
probably damaging |
Het |
Vmn1r124 |
A |
G |
7: 20,993,624 (GRCm39) |
C307R |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,452,370 (GRCm39) |
F656Y |
possibly damaging |
Het |
Zic1 |
G |
T |
9: 91,244,584 (GRCm39) |
S358R |
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 |
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'- TAAGTAGTCCGACCCCACAG -3'
(R):5'- AATGCTCAGCACTTTCCTTTGG -3'
Sequencing Primer
(F):5'- AGCTAAGCTGCTCACGATG -3'
(R):5'- TGGATAGTTATTTCCTTAGAAGCCC -3'
|
Posted On |
2016-03-01 |