Incidental Mutation 'R4786:Tnpo3'
| ID |
367079 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
041995-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4786 (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 G
at 29578541 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 311
(V311A)
|
| 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: V311A
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: V311A
| 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: V311A
PolyPhen 2
Score 0.244 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: V311A
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| 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: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700097O09Rik |
A |
T |
12: 55,106,321 (GRCm39) |
I134N |
possibly damaging |
Het |
| Acvr1c |
T |
C |
2: 58,170,366 (GRCm39) |
Y414C |
probably damaging |
Het |
| Adam32 |
A |
C |
8: 25,353,509 (GRCm39) |
S693R |
probably damaging |
Het |
| Aldh2 |
A |
T |
5: 121,710,887 (GRCm39) |
F314Y |
probably benign |
Het |
| Anks1 |
A |
G |
17: 28,271,704 (GRCm39) |
D874G |
possibly damaging |
Het |
| Ap4b1 |
T |
A |
3: 103,726,120 (GRCm39) |
V372E |
probably benign |
Het |
| Aqp12 |
G |
A |
1: 92,934,177 (GRCm39) |
C18Y |
probably damaging |
Het |
| Arap1 |
T |
A |
7: 101,034,212 (GRCm39) |
I218N |
possibly damaging |
Het |
| Arhgap42 |
C |
A |
9: 9,238,703 (GRCm39) |
E28* |
probably null |
Het |
| Asb5 |
G |
A |
8: 55,038,874 (GRCm39) |
E247K |
probably benign |
Het |
| Atg9b |
T |
C |
5: 24,591,087 (GRCm39) |
D781G |
possibly damaging |
Het |
| Atxn10 |
A |
G |
15: 85,271,344 (GRCm39) |
H294R |
probably benign |
Het |
| Bod1l |
G |
T |
5: 41,976,781 (GRCm39) |
T1511K |
probably benign |
Het |
| Btnl2 |
A |
T |
17: 34,582,322 (GRCm39) |
N296I |
probably damaging |
Het |
| Camta1 |
A |
T |
4: 151,374,496 (GRCm39) |
L168H |
probably damaging |
Het |
| Cant1 |
A |
T |
11: 118,299,665 (GRCm39) |
V265E |
possibly damaging |
Het |
| Ccdc157 |
T |
C |
11: 4,101,861 (GRCm39) |
D20G |
probably damaging |
Het |
| Cd209c |
T |
G |
8: 3,995,698 (GRCm39) |
T35P |
possibly damaging |
Het |
| Cdc20b |
G |
A |
13: 113,215,268 (GRCm39) |
V279M |
probably damaging |
Het |
| Cdh18 |
T |
A |
15: 23,410,873 (GRCm39) |
W453R |
probably null |
Het |
| Cdh24 |
A |
G |
14: 54,875,007 (GRCm39) |
S333P |
possibly damaging |
Het |
| Ceacam11 |
T |
C |
7: 17,706,239 (GRCm39) |
|
probably null |
Het |
| Ciz1 |
C |
T |
2: 32,267,539 (GRCm39) |
P150L |
probably damaging |
Het |
| Crip3 |
C |
A |
17: 46,741,968 (GRCm39) |
Q152K |
possibly damaging |
Het |
| Dars2 |
G |
A |
1: 160,888,330 (GRCm39) |
R197W |
probably damaging |
Het |
| Dctn4 |
A |
G |
18: 60,688,267 (GRCm39) |
D394G |
probably damaging |
Het |
| Dido1 |
T |
C |
2: 180,312,664 (GRCm39) |
Y1077C |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,323,651 (GRCm39) |
T641A |
probably benign |
Het |
| Egln3 |
A |
T |
12: 54,232,367 (GRCm39) |
I146N |
probably damaging |
Het |
| Eif2ak3 |
C |
T |
6: 70,869,602 (GRCm39) |
T763M |
possibly damaging |
Het |
| Etfbkmt |
A |
T |
6: 149,048,744 (GRCm39) |
M1L |
probably benign |
Het |
| Fam171a1 |
A |
T |
2: 3,226,615 (GRCm39) |
I583F |
probably damaging |
Het |
| Fbxo38 |
A |
C |
18: 62,662,745 (GRCm39) |
L249W |
probably damaging |
Het |
| Fxyd5 |
T |
C |
7: 30,740,907 (GRCm39) |
|
probably benign |
Het |
| Gabrr3 |
C |
A |
16: 59,250,463 (GRCm39) |
T154K |
probably benign |
Het |
| Gm7233 |
C |
A |
14: 43,038,347 (GRCm39) |
D90E |
probably benign |
Het |
| Gm8186 |
A |
G |
17: 26,318,014 (GRCm39) |
V61A |
probably benign |
Het |
| Gnao1 |
A |
G |
8: 94,670,931 (GRCm39) |
I137V |
probably benign |
Het |
| Gnptab |
A |
G |
10: 88,272,044 (GRCm39) |
M945V |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,212,493 (GRCm39) |
A78T |
probably benign |
Het |
| Gtf2b |
T |
C |
3: 142,487,230 (GRCm39) |
L222P |
probably damaging |
Het |
| Hnrnpf |
A |
G |
6: 117,900,857 (GRCm39) |
Y47C |
probably damaging |
Het |
| Itga6 |
A |
G |
2: 71,669,034 (GRCm39) |
N608S |
possibly damaging |
Het |
| Kdm2b |
T |
C |
5: 123,018,917 (GRCm39) |
|
probably null |
Het |
| Krit1 |
T |
A |
5: 3,862,467 (GRCm39) |
H207Q |
possibly damaging |
Het |
| Ky |
A |
G |
9: 102,419,186 (GRCm39) |
N398D |
probably benign |
Het |
| Lama1 |
T |
A |
17: 68,080,854 (GRCm39) |
V1294E |
possibly damaging |
Het |
| Lef1 |
C |
T |
3: 130,905,173 (GRCm39) |
T18I |
probably damaging |
Het |
| Lrp2 |
T |
C |
2: 69,368,300 (GRCm39) |
N178S |
probably damaging |
Het |
| Lrrc36 |
A |
G |
8: 106,181,910 (GRCm39) |
T525A |
probably benign |
Het |
| Map3k8 |
A |
T |
18: 4,340,647 (GRCm39) |
C222* |
probably null |
Het |
| Mapre2 |
G |
C |
18: 24,011,016 (GRCm39) |
S199T |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,324,300 (GRCm39) |
N911S |
probably benign |
Het |
| Mroh4 |
G |
T |
15: 74,482,083 (GRCm39) |
H722Q |
probably benign |
Het |
| Muc21 |
A |
T |
17: 35,930,221 (GRCm39) |
|
probably benign |
Het |
| Myo5b |
A |
C |
18: 74,828,451 (GRCm39) |
Y701S |
probably benign |
Het |
| Myt1l |
G |
T |
12: 29,861,457 (GRCm39) |
V80L |
unknown |
Het |
| Ncoa7 |
C |
A |
10: 30,531,638 (GRCm39) |
V24L |
probably benign |
Het |
| Nlrp10 |
A |
T |
7: 108,524,445 (GRCm39) |
V345D |
probably damaging |
Het |
| Nmral1 |
C |
A |
16: 4,534,288 (GRCm39) |
G51V |
probably damaging |
Het |
| Npc1 |
A |
G |
18: 12,332,554 (GRCm39) |
I797T |
probably benign |
Het |
| Or4x6 |
A |
T |
2: 89,949,351 (GRCm39) |
I197N |
possibly damaging |
Het |
| Or8g22 |
T |
A |
9: 38,958,783 (GRCm39) |
R22* |
probably null |
Het |
| Or8g34 |
A |
T |
9: 39,373,137 (GRCm39) |
I134L |
probably benign |
Het |
| Pclo |
A |
T |
5: 14,773,281 (GRCm39) |
I4419F |
unknown |
Het |
| Phf3 |
C |
A |
1: 30,855,638 (GRCm39) |
E983* |
probably null |
Het |
| Pitpnm2 |
A |
T |
5: 124,259,806 (GRCm39) |
Y1149* |
probably null |
Het |
| Sdc3 |
A |
T |
4: 130,550,079 (GRCm39) |
T430S |
probably damaging |
Het |
| Sema3f |
A |
G |
9: 107,559,881 (GRCm39) |
V671A |
probably benign |
Het |
| Sigirr |
T |
G |
7: 140,671,346 (GRCm39) |
S379R |
probably benign |
Het |
| Slc25a23 |
T |
A |
17: 57,354,326 (GRCm39) |
N360I |
possibly damaging |
Het |
| Slco6c1 |
A |
T |
1: 97,015,720 (GRCm39) |
M357K |
probably benign |
Het |
| Sox14 |
C |
A |
9: 99,757,018 (GRCm39) |
M240I |
probably benign |
Het |
| Stradb |
A |
T |
1: 59,030,367 (GRCm39) |
|
probably benign |
Het |
| Szt2 |
A |
T |
4: 118,256,259 (GRCm39) |
M200K |
probably benign |
Het |
| Tef |
T |
C |
15: 81,699,453 (GRCm39) |
S85P |
probably benign |
Het |
| Thada |
T |
A |
17: 84,766,283 (GRCm39) |
H41L |
possibly damaging |
Het |
| Tinagl1 |
A |
G |
4: 130,067,724 (GRCm39) |
F90S |
probably benign |
Het |
| Tnfaip1 |
G |
A |
11: 78,421,045 (GRCm39) |
T5I |
possibly damaging |
Het |
| Tnfrsf23 |
A |
T |
7: 143,233,801 (GRCm39) |
V59D |
probably damaging |
Het |
| Trak1 |
T |
A |
9: 121,301,560 (GRCm39) |
M772K |
probably benign |
Het |
| Ubash3a |
A |
G |
17: 31,436,938 (GRCm39) |
D185G |
probably benign |
Het |
| Vmn2r120 |
T |
C |
17: 57,829,048 (GRCm39) |
T516A |
probably benign |
Het |
| Wdr4 |
A |
C |
17: 31,728,785 (GRCm39) |
L130R |
probably damaging |
Het |
| Zfp12 |
T |
C |
5: 143,231,257 (GRCm39) |
I528T |
probably damaging |
Het |
| Zfp607a |
T |
C |
7: 27,578,838 (GRCm39) |
L636P |
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 |
|
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'- TCCAGATGCAACTCTCAGATC -3'
(R):5'- TAAGCACAAGCATTTGCCCC -3'
Sequencing Primer
(F):5'- GATGCAACTCTCAGATCACATAATTC -3'
(R):5'- GCATTTGCCCCAGAGATTATGGTAC -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation