Incidental Mutation 'R6481:Tnpo3'
| ID |
517094 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
044613-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6481 (G1)
|
| Quality Score |
206.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 29571100 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 431
(N431K)
|
| 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: N431K
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: N431K
| 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: N431K
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: N431K
| 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 |
0.0683 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (82/82) |
| 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: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931428L18Rik |
T |
C |
1: 31,261,588 (GRCm39) |
|
probably benign |
Het |
| Aadacl2fm3 |
T |
C |
3: 59,768,478 (GRCm39) |
Y3H |
probably benign |
Het |
| Abca9 |
G |
A |
11: 110,056,788 (GRCm39) |
Q11* |
probably null |
Het |
| Abcc9 |
A |
T |
6: 142,550,621 (GRCm39) |
M1273K |
probably damaging |
Het |
| Abi2 |
A |
G |
1: 60,478,098 (GRCm39) |
|
probably null |
Het |
| Acsm5 |
A |
G |
7: 119,134,104 (GRCm39) |
E295G |
probably benign |
Het |
| Anapc5 |
T |
C |
5: 122,938,607 (GRCm39) |
D389G |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,625,372 (GRCm39) |
D159E |
probably benign |
Het |
| Arhgap26 |
T |
A |
18: 39,283,110 (GRCm39) |
M349K |
probably damaging |
Het |
| Arhgef39 |
A |
G |
4: 43,498,580 (GRCm39) |
|
probably null |
Het |
| Astn1 |
T |
C |
1: 158,440,032 (GRCm39) |
S867P |
probably benign |
Het |
| Atad3a |
A |
T |
4: 155,838,098 (GRCm39) |
|
probably null |
Het |
| Cadm1 |
A |
T |
9: 47,699,407 (GRCm39) |
D91V |
probably damaging |
Het |
| Cc2d2b |
T |
C |
19: 40,790,839 (GRCm39) |
I933T |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,858,530 (GRCm39) |
D1066V |
probably benign |
Het |
| Celsr3 |
C |
G |
9: 108,714,283 (GRCm39) |
N1937K |
possibly damaging |
Het |
| Cic |
A |
C |
7: 24,987,706 (GRCm39) |
T558P |
possibly damaging |
Het |
| Cntln |
A |
G |
4: 84,985,747 (GRCm39) |
M933V |
probably benign |
Het |
| Coch |
T |
C |
12: 51,644,956 (GRCm39) |
F170S |
probably damaging |
Het |
| Col1a2 |
A |
G |
6: 4,538,680 (GRCm39) |
Y1200C |
unknown |
Het |
| Col26a1 |
T |
C |
5: 136,773,032 (GRCm39) |
M383V |
probably benign |
Het |
| Col4a4 |
A |
T |
1: 82,431,499 (GRCm39) |
M1595K |
unknown |
Het |
| Crh |
T |
C |
3: 19,748,501 (GRCm39) |
E47G |
probably benign |
Het |
| D930020B18Rik |
T |
C |
10: 121,497,053 (GRCm39) |
|
probably null |
Het |
| Def6 |
G |
A |
17: 28,445,137 (GRCm39) |
R482H |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Dpagt1 |
T |
C |
9: 44,242,487 (GRCm39) |
L241P |
probably damaging |
Het |
| E2f7 |
A |
G |
10: 110,610,542 (GRCm39) |
E389G |
probably damaging |
Het |
| Eif2b1 |
T |
C |
5: 124,715,174 (GRCm39) |
I53V |
probably benign |
Het |
| Fbxo4 |
A |
G |
15: 3,995,216 (GRCm39) |
L376P |
probably damaging |
Het |
| Fgfr2 |
A |
G |
7: 129,787,008 (GRCm39) |
S352P |
possibly damaging |
Het |
| Fkbpl |
C |
A |
17: 34,864,388 (GRCm39) |
P52Q |
possibly damaging |
Het |
| Fry |
G |
A |
5: 150,309,479 (GRCm39) |
R641H |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Gm12728 |
A |
G |
4: 105,651,546 (GRCm39) |
K52R |
probably damaging |
Het |
| Gtf2a1l |
A |
G |
17: 89,019,053 (GRCm39) |
D379G |
probably benign |
Het |
| Gys1 |
A |
T |
7: 45,092,393 (GRCm39) |
Y332F |
possibly damaging |
Het |
| Hoxa7 |
T |
A |
6: 52,193,594 (GRCm39) |
|
probably benign |
Het |
| Ifitm1 |
G |
A |
7: 140,549,519 (GRCm39) |
V101I |
probably benign |
Het |
| Kalrn |
T |
A |
16: 34,181,354 (GRCm39) |
T95S |
probably damaging |
Het |
| Leng8 |
A |
G |
7: 4,148,412 (GRCm39) |
Y728C |
probably damaging |
Het |
| Lonp2 |
G |
T |
8: 87,361,536 (GRCm39) |
D238Y |
possibly damaging |
Het |
| Ltn1 |
A |
C |
16: 87,175,868 (GRCm39) |
S1757A |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,013,819 (GRCm39) |
S411T |
probably damaging |
Het |
| Mrps33 |
C |
A |
6: 39,782,304 (GRCm39) |
|
probably null |
Het |
| Muc16 |
C |
T |
9: 18,461,973 (GRCm39) |
|
probably null |
Het |
| Muc5ac |
A |
G |
7: 141,362,808 (GRCm39) |
|
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,549 (GRCm39) |
S496A |
probably benign |
Het |
| Or10al6 |
T |
G |
17: 38,083,194 (GRCm39) |
F217V |
probably damaging |
Het |
| Or13p8 |
A |
G |
4: 118,583,930 (GRCm39) |
Y162C |
probably damaging |
Het |
| Or1j21 |
T |
A |
2: 36,683,789 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or4c106 |
A |
T |
2: 88,682,863 (GRCm39) |
T190S |
probably damaging |
Het |
| Or55b10 |
A |
T |
7: 102,143,346 (GRCm39) |
V212D |
probably damaging |
Het |
| Or5w17 |
T |
C |
2: 87,583,812 (GRCm39) |
N175S |
probably damaging |
Het |
| Pag1 |
T |
A |
3: 9,764,396 (GRCm39) |
E252D |
possibly damaging |
Het |
| Plcd3 |
T |
C |
11: 102,968,593 (GRCm39) |
Y366C |
probably damaging |
Het |
| Psg17 |
A |
C |
7: 18,548,375 (GRCm39) |
S465R |
probably damaging |
Het |
| Ptpn9 |
G |
T |
9: 56,930,324 (GRCm39) |
V50L |
probably damaging |
Het |
| Rab17 |
T |
G |
1: 90,886,683 (GRCm39) |
S190R |
probably benign |
Het |
| Samd11 |
A |
G |
4: 156,333,535 (GRCm39) |
|
probably null |
Het |
| Slc17a5 |
A |
G |
9: 78,445,553 (GRCm39) |
F434S |
possibly damaging |
Het |
| Slc22a15 |
A |
G |
3: 101,790,899 (GRCm39) |
I202T |
possibly damaging |
Het |
| Slc8a1 |
G |
T |
17: 81,696,347 (GRCm39) |
Q896K |
probably benign |
Het |
| Slc9a5 |
A |
T |
8: 106,085,025 (GRCm39) |
K509* |
probably null |
Het |
| Slf2 |
A |
C |
19: 44,961,603 (GRCm39) |
M1041L |
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,265,008 (GRCm39) |
|
probably null |
Het |
| Snx9 |
T |
C |
17: 5,972,484 (GRCm39) |
|
probably null |
Het |
| Soat2 |
T |
A |
15: 102,070,490 (GRCm39) |
L431Q |
probably damaging |
Het |
| Spam1 |
T |
A |
6: 24,796,929 (GRCm39) |
N293K |
probably benign |
Het |
| Tatdn1 |
T |
C |
15: 58,795,760 (GRCm39) |
T66A |
possibly damaging |
Het |
| Tmprss11g |
A |
T |
5: 86,640,015 (GRCm39) |
S205T |
probably benign |
Het |
| Trim39 |
T |
C |
17: 36,579,554 (GRCm39) |
T31A |
probably benign |
Het |
| Trmt9b |
T |
C |
8: 36,965,637 (GRCm39) |
|
probably null |
Het |
| Tshz3 |
A |
G |
7: 36,451,764 (GRCm39) |
|
probably null |
Het |
| Ttll11 |
G |
A |
2: 35,792,766 (GRCm39) |
T359M |
probably damaging |
Het |
| Ttn |
T |
G |
2: 76,571,843 (GRCm39) |
D26350A |
probably damaging |
Het |
| Ubr4 |
G |
T |
4: 139,159,062 (GRCm39) |
V2472F |
probably damaging |
Het |
| Vsx2 |
C |
T |
12: 84,639,878 (GRCm39) |
P265S |
probably benign |
Het |
| Wdr90 |
C |
T |
17: 26,064,885 (GRCm39) |
G1708R |
probably damaging |
Het |
| Wnt11 |
A |
G |
7: 98,502,481 (GRCm39) |
Y351C |
probably damaging |
Het |
| Xpo6 |
A |
C |
7: 125,712,057 (GRCm39) |
N3K |
probably damaging |
Het |
| Zfp445 |
A |
G |
9: 122,686,631 (GRCm39) |
S165P |
probably benign |
Het |
| Zfp953 |
A |
T |
13: 67,496,001 (GRCm39) |
Y13* |
probably null |
Het |
| Zftraf1 |
T |
C |
15: 76,542,908 (GRCm39) |
|
probably null |
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 |
|
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'- GACAGCAGCATAGAAGTTGTGATAC -3'
(R):5'- CTGGGAAATTAAGAACCAGAACATC -3'
Sequencing Primer
(F):5'- GCAGCATAGAAGTTGTGATACTTTCC -3'
(R):5'- TCTACAGAGTGAGTTCCAGGAC -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation