Incidental Mutation 'R1529:Tnpo3'
| ID |
166449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1529 (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 T
at 29560220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 641
(I641K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000012679
AA Change: I641K
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: I641K
| 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: I641K
PolyPhen 2
Score 0.700 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: I641K
| 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 |
probably benign
Transcript: ENSMUST00000170647
|
| SMART Domains |
Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
2 |
187 |
1e-5 |
SMART |
|
PDB:4C0P|D
|
2 |
247 |
1e-156 |
PDB |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000171865
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.3%
|
| 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: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm3 |
T |
C |
3: 59,768,533 (GRCm39) |
I21T |
probably benign |
Het |
| Adam11 |
T |
C |
11: 102,665,939 (GRCm39) |
|
probably null |
Het |
| Amd1 |
A |
T |
10: 40,166,501 (GRCm39) |
M194K |
probably benign |
Het |
| Ap1b1 |
T |
G |
11: 4,989,547 (GRCm39) |
F793C |
probably damaging |
Het |
| Arfgef3 |
G |
A |
10: 18,488,970 (GRCm39) |
R1292* |
probably null |
Het |
| Arhgef5 |
C |
A |
6: 43,256,449 (GRCm39) |
H1186N |
probably damaging |
Het |
| Atad1 |
A |
G |
19: 32,684,321 (GRCm39) |
F26L |
probably benign |
Het |
| Atg2b |
C |
T |
12: 105,627,392 (GRCm39) |
V532I |
probably benign |
Het |
| Atp2b4 |
A |
G |
1: 133,645,726 (GRCm39) |
F943L |
probably damaging |
Het |
| Atp7b |
G |
A |
8: 22,518,740 (GRCm39) |
L21F |
possibly damaging |
Het |
| Ccdc9b |
T |
A |
2: 118,592,241 (GRCm39) |
|
probably null |
Het |
| Cenpf |
A |
T |
1: 189,392,235 (GRCm39) |
D532E |
probably benign |
Het |
| Cimip3 |
G |
A |
17: 47,724,815 (GRCm39) |
S102L |
probably benign |
Het |
| Ckmt2 |
A |
T |
13: 92,009,320 (GRCm39) |
D202E |
probably benign |
Het |
| Crim1 |
A |
C |
17: 78,675,383 (GRCm39) |
K864T |
probably benign |
Het |
| Ctnnd2 |
A |
G |
15: 30,887,267 (GRCm39) |
R765G |
possibly damaging |
Het |
| Ddx10 |
T |
A |
9: 53,028,499 (GRCm39) |
R802* |
probably null |
Het |
| Dnah7b |
T |
A |
1: 46,216,441 (GRCm39) |
F1152L |
probably damaging |
Het |
| Dsg1c |
T |
C |
18: 20,415,080 (GRCm39) |
L659P |
probably damaging |
Het |
| Dzank1 |
A |
G |
2: 144,324,108 (GRCm39) |
F577L |
probably benign |
Het |
| Eci3 |
T |
C |
13: 35,140,903 (GRCm39) |
D93G |
probably benign |
Het |
| Ecpas |
T |
C |
4: 58,832,701 (GRCm39) |
|
probably null |
Het |
| Ep400 |
C |
A |
5: 110,887,311 (GRCm39) |
V591L |
probably benign |
Het |
| Fgd3 |
T |
C |
13: 49,420,170 (GRCm39) |
N569S |
probably benign |
Het |
| Ghsr |
T |
A |
3: 27,426,631 (GRCm39) |
V229E |
probably damaging |
Het |
| Gna15 |
T |
A |
10: 81,345,176 (GRCm39) |
I230F |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,940,099 (GRCm39) |
S324G |
probably damaging |
Het |
| Grid1 |
T |
C |
14: 35,031,250 (GRCm39) |
V281A |
probably benign |
Het |
| Hebp2 |
G |
A |
10: 18,421,509 (GRCm39) |
A12V |
possibly damaging |
Het |
| Hfm1 |
T |
C |
5: 107,000,989 (GRCm39) |
D1254G |
probably benign |
Het |
| Hif3a |
A |
C |
7: 16,776,564 (GRCm39) |
S459A |
probably benign |
Het |
| Hnrnpl |
T |
A |
7: 28,513,348 (GRCm39) |
N149K |
possibly damaging |
Het |
| Hoxc10 |
A |
T |
15: 102,875,635 (GRCm39) |
S115C |
probably damaging |
Het |
| Hycc2 |
A |
T |
1: 58,578,766 (GRCm39) |
D261E |
probably benign |
Het |
| Ifnab |
T |
C |
4: 88,609,292 (GRCm39) |
D58G |
possibly damaging |
Het |
| Itfg1 |
T |
C |
8: 86,537,243 (GRCm39) |
T195A |
probably benign |
Het |
| Itpr3 |
T |
A |
17: 27,324,459 (GRCm39) |
|
probably null |
Het |
| Iws1 |
A |
G |
18: 32,213,334 (GRCm39) |
D254G |
probably benign |
Het |
| Kl |
C |
A |
5: 150,912,406 (GRCm39) |
D718E |
probably benign |
Het |
| Lrit2 |
A |
G |
14: 36,790,784 (GRCm39) |
I154M |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,353,526 (GRCm39) |
D578G |
probably damaging |
Het |
| Lss |
T |
G |
10: 76,372,123 (GRCm39) |
Y159* |
probably null |
Het |
| Mab21l1 |
C |
A |
3: 55,691,254 (GRCm39) |
Y280* |
probably null |
Het |
| Maf |
A |
T |
8: 116,419,909 (GRCm39) |
S378T |
probably benign |
Het |
| Mast2 |
C |
T |
4: 116,287,716 (GRCm39) |
V59I |
probably benign |
Het |
| Nisch |
C |
T |
14: 30,902,895 (GRCm39) |
|
probably benign |
Het |
| Nova2 |
A |
T |
7: 18,691,479 (GRCm39) |
N139Y |
probably damaging |
Het |
| Nup210 |
C |
A |
6: 91,013,358 (GRCm39) |
D434Y |
probably damaging |
Het |
| Nvl |
C |
T |
1: 180,936,724 (GRCm39) |
|
probably null |
Het |
| Or11g27 |
T |
C |
14: 50,771,159 (GRCm39) |
S97P |
possibly damaging |
Het |
| Or51g2 |
A |
G |
7: 102,623,086 (GRCm39) |
Y38H |
probably damaging |
Het |
| Or56b1 |
A |
G |
7: 104,285,696 (GRCm39) |
T272A |
probably benign |
Het |
| Or8k18 |
A |
T |
2: 86,085,585 (GRCm39) |
Y151N |
probably damaging |
Het |
| Or8k3b |
A |
G |
2: 86,520,677 (GRCm39) |
V214A |
possibly damaging |
Het |
| Pbx3 |
T |
C |
2: 34,094,871 (GRCm39) |
Y255C |
probably damaging |
Het |
| Pcyt1a |
G |
A |
16: 32,270,611 (GRCm39) |
E27K |
possibly damaging |
Het |
| Pex6 |
A |
T |
17: 47,024,990 (GRCm39) |
T348S |
probably benign |
Het |
| Phf21b |
A |
G |
15: 84,681,597 (GRCm39) |
I251T |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,563,755 (GRCm39) |
I490T |
probably damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,672,534 (GRCm39) |
L56Q |
probably damaging |
Het |
| Plk4 |
A |
G |
3: 40,760,971 (GRCm39) |
T434A |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,711,998 (GRCm39) |
N1632S |
probably benign |
Het |
| Rfpl4 |
C |
T |
7: 5,113,711 (GRCm39) |
V151M |
probably damaging |
Het |
| Rpain |
G |
C |
11: 70,865,741 (GRCm39) |
E169Q |
probably damaging |
Het |
| Samd8 |
T |
A |
14: 21,825,227 (GRCm39) |
V124D |
possibly damaging |
Het |
| Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
| Slc12a1 |
C |
T |
2: 125,032,215 (GRCm39) |
T622I |
probably damaging |
Het |
| Slc17a3 |
T |
A |
13: 24,029,428 (GRCm39) |
V67D |
probably damaging |
Het |
| Slc41a3 |
G |
T |
6: 90,621,198 (GRCm39) |
V387L |
probably damaging |
Het |
| Slitrk1 |
T |
A |
14: 109,150,709 (GRCm39) |
M1L |
probably benign |
Het |
| Stat4 |
T |
C |
1: 52,050,952 (GRCm39) |
W4R |
probably damaging |
Het |
| Tas2r126 |
A |
G |
6: 42,411,502 (GRCm39) |
T12A |
probably benign |
Het |
| Tbc1d24 |
A |
G |
17: 24,404,953 (GRCm39) |
C64R |
probably damaging |
Het |
| Tcaf2 |
T |
C |
6: 42,606,440 (GRCm39) |
S505G |
probably benign |
Het |
| Tiam2 |
T |
C |
17: 3,566,978 (GRCm39) |
V1506A |
probably benign |
Het |
| Tmem9b |
A |
C |
7: 109,336,156 (GRCm39) |
S163A |
probably benign |
Het |
| Tmtc2 |
G |
A |
10: 105,139,519 (GRCm39) |
S669L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,565,711 (GRCm39) |
A28214T |
probably damaging |
Het |
| Utp11 |
G |
A |
4: 124,577,032 (GRCm39) |
A113V |
probably benign |
Het |
| Utp20 |
G |
A |
10: 88,588,868 (GRCm39) |
R2434C |
probably damaging |
Het |
| Vmn1r60 |
A |
T |
7: 5,547,902 (GRCm39) |
I66N |
probably benign |
Het |
| Zeb2 |
T |
C |
2: 44,887,206 (GRCm39) |
E572G |
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 |
|
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 |
|
|
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'- CCCCTCTCATGGAGAACTTACCTGT -3'
(R):5'- TGGCTGAATCAGGCCATGTGTACT -3'
Sequencing Primer
(F):5'- GAACTTACCTGTGTAACTAGTGGC -3'
(R):5'- aggaggctgatacaggagg -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation