Incidental Mutation 'R8424:Tnpo3'
| ID |
653349 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
067818-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8424 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29555205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 793
(S793P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012679
AA Change: S793P
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: S793P
| 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: S793P
PolyPhen 2
Score 0.715 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: S793P
| 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 |
probably benign
Transcript: ENSMUST00000170350
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535
AA Change: S110P
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
2 |
187 |
1e-5 |
SMART |
|
PDB:4C0P|D
|
2 |
247 |
1e-156 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd2 |
C |
T |
7: 78,946,885 (GRCm39) |
P42S |
probably damaging |
Het |
| Acss2 |
A |
G |
2: 155,416,538 (GRCm39) |
T694A |
unknown |
Het |
| Adar |
C |
T |
3: 89,643,301 (GRCm39) |
P394L |
probably damaging |
Het |
| Alx4 |
A |
G |
2: 93,507,814 (GRCm39) |
M370V |
probably benign |
Het |
| Bag6 |
T |
A |
17: 35,365,830 (GRCm39) |
L1089Q |
probably damaging |
Het |
| Bms1 |
T |
C |
6: 118,365,721 (GRCm39) |
Y1155C |
probably benign |
Het |
| Cbl |
G |
A |
9: 44,064,151 (GRCm39) |
T795I |
possibly damaging |
Het |
| Cd300ld2 |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
CGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGGCAGAACTGTGGATGTCAGAACTGTGGATGTCAGAACTGTGGATGGCACAACTGTGCATGGCAGAACTGTGGATGGCACAACTGTGGATGGCAGAACTGTGG |
11: 114,903,257 (GRCm39) |
|
probably benign |
Het |
| Cdc5l |
C |
A |
17: 45,726,526 (GRCm39) |
A349S |
probably benign |
Het |
| Cdh5 |
G |
A |
8: 104,856,003 (GRCm39) |
R312H |
probably benign |
Het |
| Cdk5rap1 |
T |
C |
2: 154,187,932 (GRCm39) |
T465A |
probably damaging |
Het |
| Cep135 |
C |
T |
5: 76,741,906 (GRCm39) |
T114I |
possibly damaging |
Het |
| Csrp1 |
T |
C |
1: 135,667,188 (GRCm39) |
V17A |
probably damaging |
Het |
| Cutal |
T |
C |
2: 34,777,804 (GRCm39) |
S105P |
probably benign |
Het |
| Dgki |
C |
A |
6: 36,827,850 (GRCm39) |
V1016L |
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,829,836 (GRCm39) |
N746S |
probably benign |
Het |
| Ep400 |
A |
T |
5: 110,841,144 (GRCm39) |
V1796E |
unknown |
Het |
| Fam83a |
T |
A |
15: 57,873,046 (GRCm39) |
S292T |
possibly damaging |
Het |
| H2ac4 |
A |
G |
13: 23,935,267 (GRCm39) |
Y51C |
probably damaging |
Het |
| Keap1 |
C |
A |
9: 21,142,086 (GRCm39) |
R596L |
probably benign |
Het |
| Klhl5 |
A |
C |
5: 65,320,305 (GRCm39) |
T620P |
probably benign |
Het |
| Lbhd1 |
T |
A |
19: 8,861,341 (GRCm39) |
D16E |
possibly damaging |
Het |
| Nadk2 |
T |
C |
15: 9,083,414 (GRCm39) |
V110A |
possibly damaging |
Het |
| Ncbp1 |
A |
T |
4: 46,144,839 (GRCm39) |
H30L |
probably benign |
Het |
| Or5ac21 |
A |
T |
16: 59,123,772 (GRCm39) |
L85F |
possibly damaging |
Het |
| Plat |
G |
T |
8: 23,262,248 (GRCm39) |
G91W |
probably damaging |
Het |
| Pmp22 |
G |
T |
11: 63,023,902 (GRCm39) |
|
probably benign |
Het |
| Rc3h1 |
C |
T |
1: 160,793,342 (GRCm39) |
L1076F |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,672,239 (GRCm39) |
I1431V |
possibly damaging |
Het |
| S100a7a |
T |
A |
3: 90,562,868 (GRCm39) |
H18Q |
probably damaging |
Het |
| Scd2 |
G |
T |
19: 44,289,743 (GRCm39) |
C246F |
probably benign |
Het |
| Serpina1c |
T |
C |
12: 103,862,296 (GRCm39) |
T340A |
possibly damaging |
Het |
| Setd5 |
A |
G |
6: 113,126,644 (GRCm39) |
E1227G |
probably benign |
Het |
| Sh3yl1 |
G |
A |
12: 30,974,862 (GRCm39) |
R71H |
probably damaging |
Het |
| Spry2 |
A |
G |
14: 106,130,836 (GRCm39) |
S117P |
probably damaging |
Het |
| Srcap |
T |
C |
7: 127,141,560 (GRCm39) |
V1780A |
probably benign |
Het |
| Sting1 |
A |
C |
18: 35,872,223 (GRCm39) |
I93S |
probably benign |
Het |
| Tas2r130 |
T |
G |
6: 131,607,790 (GRCm39) |
T2P |
probably benign |
Het |
| Tiam2 |
T |
A |
17: 3,566,316 (GRCm39) |
F1454I |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,566,317 (GRCm39) |
F1454S |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,381,207 (GRCm39) |
D1240N |
probably benign |
Het |
| Ubap2l |
A |
T |
3: 89,928,338 (GRCm39) |
D535E |
probably damaging |
Het |
| Ube2h |
A |
G |
6: 30,260,940 (GRCm39) |
S65P |
probably damaging |
Het |
| Vmn1r203 |
T |
C |
13: 22,709,004 (GRCm39) |
S262P |
probably damaging |
Het |
| Wfdc8 |
A |
G |
2: 164,445,078 (GRCm39) |
F179S |
probably benign |
Het |
| Wnk1 |
T |
C |
6: 119,911,388 (GRCm39) |
T2153A |
unknown |
Het |
| Zfhx3 |
G |
T |
8: 109,583,385 (GRCm39) |
G1084V |
probably damaging |
Het |
| Zfp273 |
A |
G |
13: 67,970,471 (GRCm39) |
N40D |
probably benign |
Het |
| Zfp352 |
C |
T |
4: 90,112,480 (GRCm39) |
P207S |
possibly damaging |
Het |
| Zfp952 |
T |
A |
17: 33,222,191 (GRCm39) |
F223L |
probably benign |
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 |
|
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 |
|
|
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'- GCACTGAACAGATACATGAGATC -3'
(R):5'- CGTTTTGTTGCCCCAGTATG -3'
Sequencing Primer
(F):5'- AACTGGATCATCAGTGGC -3'
(R):5'- GTTTTCAGAAGGGTCCAATGAC -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation