Incidental Mutation 'R1663:Tnpo3'
| ID |
186925 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
039699-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1663 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 29565758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 532
(D532G)
|
| 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: D532G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: D532G
| 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: D532G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: D532G
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
A |
8: 25,177,949 (GRCm39) |
T11S |
probably benign |
Het |
| Adgb |
T |
C |
10: 10,215,419 (GRCm39) |
M1529V |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,570,126 (GRCm39) |
D531E |
possibly damaging |
Het |
| Ankzf1 |
C |
T |
1: 75,172,914 (GRCm39) |
P337S |
probably damaging |
Het |
| Apc |
A |
G |
18: 34,401,378 (GRCm39) |
I55V |
probably damaging |
Het |
| Aplnr |
A |
G |
2: 84,967,038 (GRCm39) |
D21G |
possibly damaging |
Het |
| Apol10b |
A |
T |
15: 77,472,914 (GRCm39) |
F47I |
probably damaging |
Het |
| Arhgef5 |
G |
A |
6: 43,253,899 (GRCm39) |
A1131T |
probably damaging |
Het |
| Arrb2 |
A |
T |
11: 70,328,429 (GRCm39) |
Q83L |
probably damaging |
Het |
| Atf7ip |
A |
G |
6: 136,580,322 (GRCm39) |
Q1082R |
possibly damaging |
Het |
| Atl2 |
A |
G |
17: 80,172,140 (GRCm39) |
S28P |
probably damaging |
Het |
| Brd7 |
T |
C |
8: 89,084,651 (GRCm39) |
K89E |
possibly damaging |
Het |
| Cc2d1b |
A |
G |
4: 108,480,744 (GRCm39) |
T55A |
probably damaging |
Het |
| Ccdc18 |
A |
G |
5: 108,363,956 (GRCm39) |
E1217G |
probably damaging |
Het |
| Cdc42ep4 |
A |
T |
11: 113,620,277 (GRCm39) |
M38K |
probably damaging |
Het |
| Cldn14 |
A |
G |
16: 93,716,166 (GRCm39) |
S227P |
probably damaging |
Het |
| Clspn |
T |
A |
4: 126,459,768 (GRCm39) |
C332S |
probably benign |
Het |
| Col5a1 |
T |
C |
2: 27,841,488 (GRCm39) |
S370P |
unknown |
Het |
| Comp |
T |
C |
8: 70,826,250 (GRCm39) |
L10P |
possibly damaging |
Het |
| Dcc |
A |
T |
18: 71,959,123 (GRCm39) |
N216K |
probably damaging |
Het |
| Dcstamp |
C |
T |
15: 39,618,340 (GRCm39) |
Q250* |
probably null |
Het |
| Drd5 |
T |
C |
5: 38,478,198 (GRCm39) |
F397S |
probably benign |
Het |
| Dst |
T |
C |
1: 34,202,466 (GRCm39) |
S265P |
probably damaging |
Het |
| Dync2i1 |
T |
C |
12: 116,193,230 (GRCm39) |
Q574R |
probably benign |
Het |
| Enam |
A |
T |
5: 88,651,853 (GRCm39) |
S1046C |
probably damaging |
Het |
| Eno3 |
T |
C |
11: 70,553,100 (GRCm39) |
|
probably null |
Het |
| Fam13a |
G |
A |
6: 58,931,357 (GRCm39) |
R408* |
probably null |
Het |
| Gipc2 |
T |
A |
3: 151,799,801 (GRCm39) |
M310L |
probably benign |
Het |
| Gm14496 |
T |
C |
2: 181,639,230 (GRCm39) |
V440A |
probably benign |
Het |
| Gzmg |
A |
T |
14: 56,394,265 (GRCm39) |
C210S |
probably damaging |
Het |
| Helb |
G |
T |
10: 119,941,338 (GRCm39) |
A450E |
probably damaging |
Het |
| Hepacam2 |
A |
T |
6: 3,483,439 (GRCm39) |
I190N |
possibly damaging |
Het |
| Hk3 |
A |
T |
13: 55,154,388 (GRCm39) |
S773T |
probably benign |
Het |
| Hnrnpc |
A |
G |
14: 52,312,852 (GRCm39) |
S221P |
probably damaging |
Het |
| Ifna9 |
T |
C |
4: 88,510,220 (GRCm39) |
T135A |
probably benign |
Het |
| Igfn1 |
C |
T |
1: 135,896,046 (GRCm39) |
G1507R |
probably benign |
Het |
| Kank3 |
A |
G |
17: 34,037,349 (GRCm39) |
T218A |
probably benign |
Het |
| Kcp |
G |
T |
6: 29,498,964 (GRCm39) |
R337S |
possibly damaging |
Het |
| Krt74 |
A |
T |
15: 101,665,109 (GRCm39) |
|
noncoding transcript |
Het |
| Lrp1 |
A |
T |
10: 127,392,790 (GRCm39) |
D2758E |
probably damaging |
Het |
| Ly75 |
T |
C |
2: 60,144,578 (GRCm39) |
E1295G |
probably damaging |
Het |
| Mccc1 |
C |
A |
3: 36,033,082 (GRCm39) |
W354L |
probably damaging |
Het |
| Mmp1a |
C |
T |
9: 7,465,657 (GRCm39) |
T198M |
probably benign |
Het |
| Mtmr2 |
C |
T |
9: 13,714,797 (GRCm39) |
T519I |
probably damaging |
Het |
| Nbea |
A |
G |
3: 55,553,407 (GRCm39) |
S2632P |
possibly damaging |
Het |
| Nbn |
T |
A |
4: 15,970,903 (GRCm39) |
D295E |
probably benign |
Het |
| Ndufb8 |
T |
C |
19: 44,538,820 (GRCm39) |
Y167C |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,913,478 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
C |
T |
17: 32,375,093 (GRCm39) |
G407D |
probably damaging |
Het |
| Nucb1 |
A |
G |
7: 45,148,288 (GRCm39) |
F175S |
probably damaging |
Het |
| Or1l8 |
T |
G |
2: 36,817,346 (GRCm39) |
Y260S |
probably damaging |
Het |
| Or6c6c |
G |
A |
10: 129,541,160 (GRCm39) |
V138M |
probably benign |
Het |
| Or7g12 |
T |
A |
9: 18,900,006 (GRCm39) |
C241S |
probably damaging |
Het |
| Or8b44 |
T |
G |
9: 38,410,868 (GRCm39) |
I301R |
unknown |
Het |
| Pip5k1c |
T |
C |
10: 81,148,349 (GRCm39) |
V425A |
probably damaging |
Het |
| Pnisr |
T |
A |
4: 21,873,857 (GRCm39) |
|
probably benign |
Het |
| Prkag1 |
A |
G |
15: 98,713,776 (GRCm39) |
V18A |
probably damaging |
Het |
| Rad50 |
T |
C |
11: 53,559,050 (GRCm39) |
N1063S |
probably benign |
Het |
| Rnf170 |
C |
T |
8: 26,619,171 (GRCm39) |
H132Y |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,328,498 (GRCm39) |
D1977G |
probably benign |
Het |
| Sema3a |
G |
A |
5: 13,607,092 (GRCm39) |
|
probably null |
Het |
| Setx |
T |
A |
2: 29,016,917 (GRCm39) |
C7S |
probably damaging |
Het |
| Slc23a2 |
A |
G |
2: 131,907,384 (GRCm39) |
I417T |
probably damaging |
Het |
| Spink6 |
T |
G |
18: 44,204,588 (GRCm39) |
F18C |
unknown |
Het |
| Sptbn1 |
T |
C |
11: 30,070,783 (GRCm39) |
Q1538R |
possibly damaging |
Het |
| Strn3 |
A |
G |
12: 51,699,609 (GRCm39) |
Y188H |
probably damaging |
Het |
| Tecpr1 |
C |
A |
5: 144,134,762 (GRCm39) |
K1040N |
probably benign |
Het |
| Tll1 |
T |
A |
8: 64,470,720 (GRCm39) |
Y901F |
probably benign |
Het |
| Tmem81 |
C |
T |
1: 132,435,635 (GRCm39) |
A147V |
probably benign |
Het |
| Vmn2r19 |
T |
A |
6: 123,313,411 (GRCm39) |
I827N |
probably benign |
Het |
| Wdr35 |
A |
G |
12: 9,070,000 (GRCm39) |
K857R |
probably benign |
Het |
| Zfp110 |
A |
G |
7: 12,582,569 (GRCm39) |
T406A |
probably benign |
Het |
| Zfp52 |
T |
C |
17: 21,782,084 (GRCm39) |
L644P |
possibly damaging |
Het |
| Zfp605 |
G |
A |
5: 110,275,451 (GRCm39) |
V190I |
probably benign |
Het |
| Zfp964 |
A |
G |
8: 70,116,733 (GRCm39) |
|
probably null |
Het |
| Zmynd8 |
A |
G |
2: 165,649,805 (GRCm39) |
S779P |
probably benign |
Het |
| Zswim5 |
T |
A |
4: 116,844,092 (GRCm39) |
N1043K |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TGACTGTGTTGCCTCTACTCCAAATCTA -3'
(R):5'- TGACACTACATCAGTAAGATCAGCTCCA -3'
Sequencing Primer
(F):5'- AGAATGTATGAACATTCCCCCCTTC -3'
(R):5'- agttctcttaaccactgagcc -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation