Incidental Mutation 'R2146:Tnpo3'
ID |
233824 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnpo3
|
Ensembl Gene |
ENSMUSG00000012535 |
Gene Name |
transportin 3 |
Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
MMRRC Submission |
040149-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2146 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 29589035 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 105
(V105A)
|
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: V105A
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000012679 Gene: ENSMUSG00000012535 AA Change: V105A
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: V105A
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000110906 Gene: ENSMUSG00000012535 AA Change: V105A
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: ENSMUST00000166844
|
SMART Domains |
Protein: ENSMUSP00000131699 Gene: ENSMUSG00000012535
Domain | Start | End | E-Value | Type |
PDB:4C0P|D
|
1 |
55 |
1e-22 |
PDB |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169302
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170634
|
Meta Mutation Damage Score |
0.1418 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
99% (84/85) |
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: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700013D24Rik |
A |
T |
6: 124,324,803 (GRCm39) |
|
probably null |
Het |
9530002B09Rik |
T |
A |
4: 122,583,198 (GRCm39) |
C13* |
probably null |
Het |
Abca12 |
C |
A |
1: 71,302,647 (GRCm39) |
V2191L |
probably benign |
Het |
Adamts18 |
G |
C |
8: 114,571,635 (GRCm39) |
A116G |
possibly damaging |
Het |
Anxa2 |
TCCC |
TCC |
9: 69,397,036 (GRCm39) |
|
probably null |
Het |
Arfgef1 |
C |
T |
1: 10,270,103 (GRCm39) |
A349T |
probably benign |
Het |
Arhgap6 |
A |
G |
X: 167,579,496 (GRCm39) |
T94A |
probably benign |
Het |
Arhgef5 |
T |
C |
6: 43,260,252 (GRCm39) |
S1413P |
probably damaging |
Het |
Atg4c |
C |
A |
4: 99,109,463 (GRCm39) |
N143K |
possibly damaging |
Het |
C1qtnf12 |
A |
G |
4: 156,050,922 (GRCm39) |
N297S |
probably benign |
Het |
Cadps2 |
G |
T |
6: 23,838,998 (GRCm39) |
|
probably benign |
Het |
Ccdc185 |
G |
T |
1: 182,575,085 (GRCm39) |
H535N |
possibly damaging |
Het |
Ccdc57 |
A |
G |
11: 120,776,051 (GRCm39) |
|
probably benign |
Het |
Cd163 |
A |
G |
6: 124,286,167 (GRCm39) |
H239R |
probably damaging |
Het |
Ceacam2 |
G |
T |
7: 25,227,368 (GRCm39) |
C166* |
probably null |
Het |
Ces5a |
T |
A |
8: 94,261,327 (GRCm39) |
E33D |
probably benign |
Het |
Chl1 |
T |
C |
6: 103,692,362 (GRCm39) |
|
probably null |
Het |
Chsy3 |
G |
A |
18: 59,309,544 (GRCm39) |
V266I |
probably benign |
Het |
Cpa5 |
G |
T |
6: 30,626,821 (GRCm39) |
R251L |
probably damaging |
Het |
Cps1 |
A |
C |
1: 67,191,538 (GRCm39) |
|
probably benign |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cstf1 |
T |
C |
2: 172,217,683 (GRCm39) |
Y99H |
probably damaging |
Het |
Cyp2j11 |
G |
A |
4: 96,204,595 (GRCm39) |
T317I |
probably damaging |
Het |
Dcaf8l |
T |
C |
X: 88,449,883 (GRCm39) |
D82G |
possibly damaging |
Het |
Dennd3 |
C |
T |
15: 73,395,345 (GRCm39) |
T146M |
probably damaging |
Het |
Dennd3 |
A |
T |
15: 73,426,909 (GRCm39) |
H762L |
probably benign |
Het |
Dnah2 |
T |
C |
11: 69,406,587 (GRCm39) |
M552V |
probably benign |
Het |
Dnajc22 |
T |
C |
15: 99,002,264 (GRCm39) |
V303A |
probably benign |
Het |
Dtx2 |
T |
G |
5: 136,059,464 (GRCm39) |
L458R |
probably benign |
Het |
Fat3 |
A |
T |
9: 15,901,808 (GRCm39) |
F3072L |
probably benign |
Het |
Fgf5 |
T |
C |
5: 98,423,409 (GRCm39) |
*265R |
probably null |
Het |
Fndc11 |
A |
G |
2: 180,863,918 (GRCm39) |
E241G |
probably damaging |
Het |
Glb1 |
T |
C |
9: 114,279,716 (GRCm39) |
Y375H |
probably damaging |
Het |
Gm4922 |
T |
G |
10: 18,659,264 (GRCm39) |
Q486P |
probably benign |
Het |
Gm5786 |
A |
T |
12: 59,128,084 (GRCm39) |
|
noncoding transcript |
Het |
Hepacam2 |
A |
T |
6: 3,463,378 (GRCm39) |
|
probably benign |
Het |
Ints9 |
G |
A |
14: 65,223,792 (GRCm39) |
G89R |
possibly damaging |
Het |
Iqcm |
T |
A |
8: 76,615,241 (GRCm39) |
W441R |
probably damaging |
Het |
Itga10 |
T |
C |
3: 96,558,808 (GRCm39) |
L382P |
possibly damaging |
Het |
Itga10 |
G |
T |
3: 96,561,039 (GRCm39) |
G635W |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,756,075 (GRCm39) |
Y554H |
probably damaging |
Het |
Kif1b |
T |
C |
4: 149,268,766 (GRCm39) |
K1649R |
probably damaging |
Het |
L1cam |
A |
T |
X: 72,904,747 (GRCm39) |
F536Y |
probably damaging |
Het |
Magee1 |
A |
T |
X: 104,166,564 (GRCm39) |
D783V |
probably damaging |
Het |
Marveld3 |
A |
T |
8: 110,686,434 (GRCm39) |
V144E |
probably benign |
Het |
Mcam |
T |
C |
9: 44,047,932 (GRCm39) |
V59A |
probably damaging |
Het |
Mdga2 |
C |
T |
12: 66,915,515 (GRCm39) |
E47K |
probably damaging |
Het |
Metrn |
T |
A |
17: 26,015,601 (GRCm39) |
E38V |
probably damaging |
Het |
Mfrp |
T |
C |
9: 44,015,015 (GRCm39) |
L314P |
probably benign |
Het |
Mgat4f |
T |
A |
1: 134,318,251 (GRCm39) |
M341K |
probably damaging |
Het |
Mideas |
G |
T |
12: 84,219,809 (GRCm39) |
P382T |
probably damaging |
Het |
Mospd2 |
A |
G |
X: 163,739,473 (GRCm39) |
|
probably null |
Het |
Mycbp2 |
G |
A |
14: 103,393,358 (GRCm39) |
H3068Y |
probably damaging |
Het |
Myh6 |
C |
T |
14: 55,191,228 (GRCm39) |
R871H |
probably damaging |
Het |
Nup214 |
C |
T |
2: 31,924,478 (GRCm39) |
S1669F |
probably damaging |
Het |
Or13c7b |
A |
G |
4: 43,821,178 (GRCm39) |
F61S |
probably damaging |
Het |
Or5b111 |
T |
C |
19: 13,291,485 (GRCm39) |
T55A |
probably benign |
Het |
Or8i2 |
T |
A |
2: 86,852,009 (GRCm39) |
N293I |
probably damaging |
Het |
Parvb |
A |
G |
15: 84,116,369 (GRCm39) |
K33E |
possibly damaging |
Het |
Pdcd11 |
A |
G |
19: 47,093,191 (GRCm39) |
M490V |
probably benign |
Het |
Pkd2 |
A |
C |
5: 104,603,456 (GRCm39) |
|
probably benign |
Het |
Reps1 |
T |
A |
10: 17,969,061 (GRCm39) |
D206E |
probably benign |
Het |
Rimkla |
T |
A |
4: 119,331,779 (GRCm39) |
M140L |
possibly damaging |
Het |
Rnf13 |
T |
G |
3: 57,709,907 (GRCm39) |
I150S |
probably null |
Het |
Rxfp4 |
C |
T |
3: 88,560,200 (GRCm39) |
A84T |
probably damaging |
Het |
Serpinb8 |
T |
A |
1: 107,533,657 (GRCm39) |
D237E |
probably benign |
Het |
Sgo2b |
T |
G |
8: 64,381,057 (GRCm39) |
T592P |
probably benign |
Het |
Slc35d1 |
A |
T |
4: 103,062,349 (GRCm39) |
I228N |
probably damaging |
Het |
Slc39a1 |
T |
G |
3: 90,156,757 (GRCm39) |
H104Q |
probably benign |
Het |
Slc6a6 |
T |
C |
6: 91,712,161 (GRCm39) |
V230A |
probably benign |
Het |
Slc9a3 |
A |
G |
13: 74,269,722 (GRCm39) |
E30G |
probably benign |
Het |
Slc9c1 |
A |
G |
16: 45,413,827 (GRCm39) |
Y985C |
probably benign |
Het |
Supt6 |
A |
G |
11: 78,121,758 (GRCm39) |
F298S |
probably damaging |
Het |
Tada2a |
T |
C |
11: 83,970,455 (GRCm39) |
D432G |
probably damaging |
Het |
Thoc2l |
T |
C |
5: 104,666,857 (GRCm39) |
F460L |
probably benign |
Het |
Tmem131 |
C |
A |
1: 36,851,690 (GRCm39) |
V938L |
probably benign |
Het |
Ttc7 |
T |
C |
17: 87,654,135 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,727,532 (GRCm39) |
|
probably benign |
Het |
Usp16 |
T |
C |
16: 87,270,075 (GRCm39) |
|
probably null |
Het |
Usp36 |
A |
G |
11: 118,159,491 (GRCm39) |
L486S |
probably benign |
Het |
Uty |
T |
C |
Y: 1,239,816 (GRCm39) |
I72V |
probably benign |
Het |
Vps51 |
A |
G |
19: 6,118,164 (GRCm39) |
V777A |
probably benign |
Het |
Zfp160 |
A |
G |
17: 21,247,244 (GRCm39) |
K598R |
probably benign |
Het |
Zfp39 |
T |
C |
11: 58,781,158 (GRCm39) |
N535D |
probably benign |
Het |
Zfp804a |
A |
G |
2: 82,089,008 (GRCm39) |
T946A |
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 |
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'- GCAACTTTAGCAGTGGGAGC -3'
(R):5'- ATCAATTGTTACAGATCCGACAGG -3'
Sequencing Primer
(F):5'- CTTTAGCAGTGGGAGCACATGC -3'
(R):5'- CAGGATGTGGAATCATGCTATTTCGC -3'
|
Posted On |
2014-10-01 |