Incidental Mutation 'IGL01987:Tnpo3'
ID |
181960 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tnpo3
|
Ensembl Gene |
ENSMUSG00000012535 |
Gene Name |
transportin 3 |
Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01987
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29560200 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 648
(T648A)
|
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: T648A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000012679 Gene: ENSMUSG00000012535 AA Change: T648A
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: T648A
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000110906 Gene: ENSMUSG00000012535 AA Change: T648A
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 |
|
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
A |
G |
17: 24,565,202 (GRCm39) |
F77L |
probably benign |
Het |
Abca8a |
A |
G |
11: 109,964,981 (GRCm39) |
F439L |
possibly damaging |
Het |
Abcb5 |
A |
T |
12: 118,891,093 (GRCm39) |
V468D |
probably damaging |
Het |
Adgrb3 |
A |
T |
1: 25,140,512 (GRCm39) |
|
probably null |
Het |
Ajm1 |
T |
C |
2: 25,467,970 (GRCm39) |
E647G |
possibly damaging |
Het |
Ankrd28 |
T |
C |
14: 31,500,931 (GRCm39) |
D50G |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,587,579 (GRCm39) |
|
probably null |
Het |
Capn9 |
A |
G |
8: 125,302,965 (GRCm39) |
S28G |
probably benign |
Het |
Cdk5rap2 |
A |
G |
4: 70,220,319 (GRCm39) |
|
probably null |
Het |
Dmtf1l |
C |
T |
X: 125,722,098 (GRCm39) |
E336K |
possibly damaging |
Het |
E2f5 |
T |
C |
3: 14,652,363 (GRCm39) |
|
probably benign |
Het |
Fam135b |
A |
G |
15: 71,333,964 (GRCm39) |
Y1077H |
probably benign |
Het |
Fap |
A |
G |
2: 62,359,020 (GRCm39) |
Y428H |
probably damaging |
Het |
Fasn |
A |
G |
11: 120,708,899 (GRCm39) |
S595P |
probably damaging |
Het |
Flnb |
T |
C |
14: 7,922,748 (GRCm38) |
|
probably null |
Het |
Fzd3 |
A |
T |
14: 65,477,347 (GRCm39) |
V69E |
probably damaging |
Het |
Gcdh |
A |
T |
8: 85,620,110 (GRCm39) |
|
probably benign |
Het |
Ido1 |
A |
G |
8: 25,083,159 (GRCm39) |
Y89H |
probably benign |
Het |
Itga2 |
G |
A |
13: 114,984,482 (GRCm39) |
Q1010* |
probably null |
Het |
Man1a2 |
T |
C |
3: 100,551,873 (GRCm39) |
Y280C |
probably damaging |
Het |
Mgat4d |
T |
C |
8: 84,094,731 (GRCm39) |
I256T |
probably damaging |
Het |
Mmrn1 |
A |
G |
6: 60,921,557 (GRCm39) |
K5E |
probably benign |
Het |
Ncapd2 |
A |
G |
6: 125,162,804 (GRCm39) |
|
probably benign |
Het |
Or2at4 |
A |
T |
7: 99,384,478 (GRCm39) |
I43F |
probably damaging |
Het |
Or7g18 |
A |
T |
9: 18,787,003 (GRCm39) |
I127L |
probably benign |
Het |
Pcnx3 |
T |
C |
19: 5,727,507 (GRCm39) |
D644G |
probably damaging |
Het |
Pole |
T |
C |
5: 110,485,098 (GRCm39) |
V2280A |
probably benign |
Het |
Ptprf |
T |
A |
4: 118,134,567 (GRCm39) |
M24L |
probably benign |
Het |
Sbno1 |
T |
C |
5: 124,542,282 (GRCm39) |
N337S |
probably damaging |
Het |
Serpinc1 |
T |
A |
1: 160,820,977 (GRCm39) |
F141L |
probably damaging |
Het |
Shroom3 |
C |
A |
5: 93,090,048 (GRCm39) |
R933S |
probably damaging |
Het |
Slc24a2 |
G |
A |
4: 87,146,033 (GRCm39) |
P7L |
probably benign |
Het |
Slc25a32 |
G |
A |
15: 38,961,002 (GRCm39) |
T227I |
probably damaging |
Het |
Slc7a1 |
A |
G |
5: 148,274,002 (GRCm39) |
F396L |
possibly damaging |
Het |
Smok2a |
G |
A |
17: 13,445,377 (GRCm39) |
R318H |
probably benign |
Het |
Sntg2 |
A |
G |
12: 30,362,569 (GRCm39) |
V59A |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,454,558 (GRCm39) |
|
probably null |
Het |
Tnfrsf1a |
G |
A |
6: 125,333,827 (GRCm39) |
V27I |
probably damaging |
Het |
Tpbg |
A |
G |
9: 85,727,252 (GRCm39) |
Y407C |
probably damaging |
Het |
Wbp2nl |
A |
T |
15: 82,192,762 (GRCm39) |
M149L |
probably benign |
Het |
Yif1a |
T |
A |
19: 5,141,625 (GRCm39) |
M181K |
probably benign |
Het |
Zkscan8 |
A |
G |
13: 21,710,729 (GRCm39) |
L127S |
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 |
|
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 |
|
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 |
|
|
Posted On |
2014-05-07 |