Incidental Mutation 'R8329:Tnpo3'
| ID |
644249 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
067859-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8329 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 29558832 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 699
(C699*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000012679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000012679
AA Change: C699*
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: C699*
| 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 null
Transcript: ENSMUST00000115251
AA Change: C699*
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: C699*
| 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 |
probably null
Transcript: ENSMUST00000170647
AA Change: C16*
|
| SMART Domains |
Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535
AA Change: C16*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1qbkb_
|
2 |
187 |
1e-5 |
SMART |
|
PDB:4C0P|D
|
2 |
247 |
1e-156 |
PDB |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933430I17Rik |
T |
A |
4: 62,461,978 (GRCm39) |
|
probably null |
Het |
| Ackr4 |
A |
G |
9: 103,976,660 (GRCm39) |
F96L |
possibly damaging |
Het |
| Aco1 |
T |
C |
4: 40,186,376 (GRCm39) |
I596T |
possibly damaging |
Het |
| Aff3 |
G |
A |
1: 38,244,135 (GRCm39) |
R879W |
probably benign |
Het |
| Apob |
A |
G |
12: 8,061,135 (GRCm39) |
R3206G |
probably damaging |
Het |
| Atg7 |
T |
A |
6: 114,663,057 (GRCm39) |
D224E |
possibly damaging |
Het |
| Capn12 |
T |
C |
7: 28,582,626 (GRCm39) |
F167S |
probably damaging |
Het |
| Ccdc3 |
T |
G |
2: 5,233,848 (GRCm39) |
V224G |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,874,714 (GRCm39) |
V452I |
probably damaging |
Het |
| Cherp |
G |
A |
8: 73,215,852 (GRCm39) |
R834C |
|
Het |
| Clptm1l |
T |
A |
13: 73,760,547 (GRCm39) |
I310N |
probably damaging |
Het |
| Cog3 |
A |
T |
14: 75,978,003 (GRCm39) |
D230E |
probably damaging |
Het |
| Crb1 |
T |
A |
1: 139,165,005 (GRCm39) |
I1101F |
probably damaging |
Het |
| Cts6 |
A |
T |
13: 61,343,282 (GRCm39) |
M313K |
probably damaging |
Het |
| Cyp2c66 |
T |
A |
19: 39,174,906 (GRCm39) |
C435* |
probably null |
Het |
| Defb13 |
A |
G |
8: 22,438,562 (GRCm39) |
E40G |
probably benign |
Het |
| Dis3l |
T |
C |
9: 64,219,112 (GRCm39) |
D606G |
possibly damaging |
Het |
| Dop1b |
T |
C |
16: 93,568,675 (GRCm39) |
L1579P |
probably damaging |
Het |
| Foxa3 |
A |
G |
7: 18,748,109 (GRCm39) |
V339A |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,747,921 (GRCm39) |
G1776E |
probably damaging |
Het |
| Gls2 |
A |
G |
10: 128,037,154 (GRCm39) |
T232A |
probably benign |
Het |
| Gprc6a |
A |
T |
10: 51,503,355 (GRCm39) |
Y169* |
probably null |
Het |
| Guca2b |
T |
C |
4: 119,516,001 (GRCm39) |
S18G |
unknown |
Het |
| Hars2 |
A |
G |
18: 36,922,288 (GRCm39) |
D301G |
possibly damaging |
Het |
| Haus5 |
T |
A |
7: 30,358,984 (GRCm39) |
Q226L |
possibly damaging |
Het |
| Hc |
G |
A |
2: 34,902,910 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
T |
C |
10: 14,004,011 (GRCm39) |
V203A |
probably damaging |
Het |
| Hoxc8 |
A |
G |
15: 102,899,543 (GRCm39) |
Y111C |
probably damaging |
Het |
| Hoxd13 |
G |
T |
2: 74,498,661 (GRCm39) |
R3L |
probably benign |
Het |
| Hspa8 |
T |
G |
9: 40,713,897 (GRCm39) |
I130S |
probably damaging |
Het |
| Ier5l |
C |
A |
2: 30,362,861 (GRCm39) |
C388F |
possibly damaging |
Het |
| Ldc1 |
C |
T |
4: 130,109,156 (GRCm39) |
V295M |
possibly damaging |
Het |
| Lmx1a |
A |
G |
1: 167,517,372 (GRCm39) |
N10S |
probably benign |
Het |
| Map2 |
T |
C |
1: 66,454,272 (GRCm39) |
I1054T |
probably benign |
Het |
| Me1 |
C |
T |
9: 86,501,790 (GRCm39) |
D268N |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,226,525 (GRCm39) |
P1501S |
unknown |
Het |
| Myo1d |
T |
C |
11: 80,528,900 (GRCm39) |
M641V |
probably benign |
Het |
| Nuggc |
G |
A |
14: 65,878,731 (GRCm39) |
R667K |
probably benign |
Het |
| Oprl1 |
T |
A |
2: 181,360,717 (GRCm39) |
C231S |
probably damaging |
Het |
| Or11g26 |
T |
C |
14: 50,753,015 (GRCm39) |
F118S |
probably damaging |
Het |
| Or13p10 |
A |
C |
4: 118,523,604 (GRCm39) |
N297H |
probably damaging |
Het |
| Pard3b |
C |
A |
1: 62,676,957 (GRCm39) |
Q1163K |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 116,017,283 (GRCm39) |
Y158C |
probably damaging |
Het |
| Prune2 |
T |
G |
19: 17,098,629 (GRCm39) |
S1378A |
probably benign |
Het |
| Ralgps2 |
G |
T |
1: 156,712,110 (GRCm39) |
T158K |
probably damaging |
Het |
| Rbm42 |
T |
A |
7: 30,344,582 (GRCm39) |
E227V |
unknown |
Het |
| Ripor3 |
T |
C |
2: 167,825,119 (GRCm39) |
R797G |
possibly damaging |
Het |
| Ryr3 |
T |
A |
2: 112,492,855 (GRCm39) |
H3764L |
possibly damaging |
Het |
| Sbno2 |
T |
C |
10: 79,900,221 (GRCm39) |
Y541C |
probably damaging |
Het |
| Scn5a |
A |
G |
9: 119,365,030 (GRCm39) |
V396A |
probably damaging |
Het |
| Slc36a3 |
A |
G |
11: 55,039,409 (GRCm39) |
L73P |
probably damaging |
Het |
| Spag16 |
T |
C |
1: 69,934,407 (GRCm39) |
I278T |
probably benign |
Het |
| Stx18 |
T |
A |
5: 38,285,450 (GRCm39) |
L274* |
probably null |
Het |
| Terb1 |
A |
T |
8: 105,211,003 (GRCm39) |
N341K |
probably damaging |
Het |
| Timm29 |
A |
G |
9: 21,505,001 (GRCm39) |
Y223C |
probably damaging |
Het |
| Tmprss2 |
T |
A |
16: 97,369,665 (GRCm39) |
M370L |
probably benign |
Het |
| Tmtc3 |
T |
A |
10: 100,283,296 (GRCm39) |
N753I |
probably damaging |
Het |
| Trav5d-4 |
G |
A |
14: 53,239,208 (GRCm39) |
W13* |
probably null |
Het |
| Trdn |
A |
G |
10: 33,320,074 (GRCm39) |
|
probably null |
Het |
| Tsg101 |
A |
T |
7: 46,558,808 (GRCm39) |
Y68N |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,664,062 (GRCm39) |
V11649A |
unknown |
Het |
| Wnk2 |
A |
T |
13: 49,248,914 (GRCm39) |
V379D |
probably damaging |
Het |
| Xpnpep1 |
A |
G |
19: 52,990,903 (GRCm39) |
|
probably null |
Het |
| Yme1l1 |
C |
T |
2: 23,054,597 (GRCm39) |
Q139* |
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 |
|
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 |
|
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'- ACATGCTGTGGTTGTGACAG -3'
(R):5'- TCTTTGGAAGGAAACCAGTCAAAGG -3'
Sequencing Primer
(F):5'- TGCTGTGGTTGTGACAGGAATAAAG -3'
(R):5'- CCAGTCAAAGGCATGAAAGAAATC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation