Incidental Mutation 'IGL03409:Tnpo3'
| ID |
421713 |
| 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 # |
IGL03409
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 29555181 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Tyrosine
at position 801
(D801Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000012679
AA Change: D801Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: D801Y
| 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 damaging
Transcript: ENSMUST00000115251
AA Change: D801Y
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: D801Y
| 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 |
probably benign
Transcript: ENSMUST00000170350
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000170647
AA Change: D118Y
|
| SMART Domains |
Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535
AA Change: D118Y
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb10 |
A |
T |
8: 124,691,762 (GRCm39) |
M401K |
possibly damaging |
Het |
| Ablim3 |
T |
A |
18: 61,978,922 (GRCm39) |
H203L |
probably damaging |
Het |
| Ank2 |
C |
A |
3: 126,749,519 (GRCm39) |
E503D |
probably damaging |
Het |
| Aox1 |
T |
G |
1: 58,393,588 (GRCm39) |
D1249E |
possibly damaging |
Het |
| Astn2 |
T |
C |
4: 65,353,423 (GRCm39) |
I1116V |
possibly damaging |
Het |
| Atad3a |
T |
C |
4: 155,831,807 (GRCm39) |
D489G |
probably damaging |
Het |
| Caln1 |
G |
T |
5: 130,646,719 (GRCm39) |
G52C |
probably damaging |
Het |
| Clcn7 |
A |
G |
17: 25,374,359 (GRCm39) |
T467A |
probably damaging |
Het |
| Col17a1 |
A |
T |
19: 47,654,979 (GRCm39) |
I599N |
possibly damaging |
Het |
| Cul2 |
T |
A |
18: 3,429,593 (GRCm39) |
H547Q |
probably damaging |
Het |
| Cxcl14 |
T |
C |
13: 56,440,320 (GRCm39) |
T80A |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,581,401 (GRCm39) |
Y407N |
probably damaging |
Het |
| Edc4 |
T |
A |
8: 106,611,748 (GRCm39) |
I108N |
probably damaging |
Het |
| Exoc2 |
T |
C |
13: 31,124,720 (GRCm39) |
|
probably benign |
Het |
| Gm1110 |
T |
G |
9: 26,807,916 (GRCm39) |
H290P |
probably benign |
Het |
| Gm16223 |
T |
A |
5: 42,225,336 (GRCm39) |
W12R |
unknown |
Het |
| Herc2 |
C |
A |
7: 55,878,317 (GRCm39) |
H4623Q |
probably damaging |
Het |
| Igkv18-36 |
A |
T |
6: 69,969,589 (GRCm39) |
H68Q |
possibly damaging |
Het |
| Kif7 |
T |
C |
7: 79,357,301 (GRCm39) |
E635G |
probably benign |
Het |
| Or2t47 |
T |
C |
11: 58,442,388 (GRCm39) |
K226E |
probably benign |
Het |
| Or4c109 |
A |
T |
2: 88,817,931 (GRCm39) |
I205N |
possibly damaging |
Het |
| Or52z13 |
T |
A |
7: 103,246,574 (GRCm39) |
M17K |
possibly damaging |
Het |
| Or9m1b |
A |
T |
2: 87,836,239 (GRCm39) |
N285K |
probably damaging |
Het |
| Pam |
C |
A |
1: 97,792,054 (GRCm39) |
A456S |
probably benign |
Het |
| Pgap3 |
T |
C |
11: 98,289,764 (GRCm39) |
T76A |
possibly damaging |
Het |
| Pkd2 |
C |
A |
5: 104,637,215 (GRCm39) |
Y609* |
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,310,234 (GRCm39) |
D362G |
probably damaging |
Het |
| Polr3h |
C |
A |
15: 81,801,595 (GRCm39) |
A94S |
probably benign |
Het |
| Rhod |
T |
C |
19: 4,482,186 (GRCm39) |
D76G |
probably damaging |
Het |
| Rims2 |
T |
C |
15: 39,320,129 (GRCm39) |
V670A |
probably damaging |
Het |
| Rpap3 |
G |
A |
15: 97,579,620 (GRCm39) |
T464M |
possibly damaging |
Het |
| Rufy1 |
T |
A |
11: 50,297,310 (GRCm39) |
I381L |
probably benign |
Het |
| Slc1a4 |
T |
C |
11: 20,256,506 (GRCm39) |
T442A |
probably damaging |
Het |
| Slc9b1 |
T |
C |
3: 135,100,670 (GRCm39) |
S472P |
probably damaging |
Het |
| Tmtc3 |
T |
C |
10: 100,287,294 (GRCm39) |
T501A |
possibly damaging |
Het |
| Ttc39b |
T |
C |
4: 83,179,193 (GRCm39) |
Y111C |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,127,240 (GRCm39) |
R543* |
probably null |
Het |
| Vmn1r74 |
T |
G |
7: 11,581,240 (GRCm39) |
L180R |
probably damaging |
Het |
| Vps45 |
T |
G |
3: 95,960,401 (GRCm39) |
E80A |
probably benign |
Het |
| Zfp677 |
T |
C |
17: 21,617,107 (GRCm39) |
Y55H |
probably damaging |
Het |
| Zng1 |
A |
G |
19: 24,900,130 (GRCm39) |
V289A |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation