Incidental Mutation 'R3765:Tnpo3'
ID |
274646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tnpo3
|
Ensembl Gene |
ENSMUSG00000012535 |
Gene Name |
transportin 3 |
Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
MMRRC Submission |
040742-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3765 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 29579688 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 235
(D235G)
|
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: D235G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000012679 Gene: ENSMUSG00000012535 AA Change: D235G
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: D235G
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000110906 Gene: ENSMUSG00000012535 AA Change: D235G
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: ENSMUST00000167056
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169302
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000170350
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000170634
|
Meta Mutation Damage Score |
0.1060 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap13 |
T |
C |
7: 75,258,585 (GRCm39) |
V403A |
probably benign |
Het |
Arid2 |
T |
C |
15: 96,268,595 (GRCm39) |
S903P |
probably benign |
Het |
Arl6ip6 |
T |
A |
2: 53,082,243 (GRCm39) |
W37R |
probably damaging |
Het |
Bag3 |
C |
T |
7: 128,141,995 (GRCm39) |
T162I |
probably benign |
Het |
C4b |
G |
A |
17: 34,948,814 (GRCm39) |
P1545S |
probably damaging |
Het |
Ccdc185 |
T |
A |
1: 182,575,117 (GRCm39) |
H524L |
possibly damaging |
Het |
Cfap43 |
T |
C |
19: 47,824,014 (GRCm39) |
N119S |
probably benign |
Het |
Churc1 |
C |
A |
12: 76,820,057 (GRCm39) |
S22* |
probably null |
Het |
Crbn |
T |
C |
6: 106,771,987 (GRCm39) |
K106E |
possibly damaging |
Het |
Dag1 |
C |
T |
9: 108,085,398 (GRCm39) |
G581E |
probably damaging |
Het |
Dpp4 |
T |
A |
2: 62,216,780 (GRCm39) |
T92S |
probably benign |
Het |
Fam135a |
T |
C |
1: 24,094,958 (GRCm39) |
T137A |
possibly damaging |
Het |
Fcsk |
A |
G |
8: 111,613,736 (GRCm39) |
I775T |
probably benign |
Het |
Fermt1 |
T |
C |
2: 132,748,622 (GRCm39) |
D667G |
possibly damaging |
Het |
Foxl2 |
T |
A |
9: 98,838,039 (GRCm39) |
I109N |
probably damaging |
Het |
Frk |
A |
G |
10: 34,360,001 (GRCm39) |
M1V |
probably null |
Het |
Gstm2 |
A |
G |
3: 107,891,346 (GRCm39) |
F124S |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,620,776 (GRCm39) |
S1145G |
possibly damaging |
Het |
Ints10 |
A |
G |
8: 69,277,771 (GRCm39) |
T682A |
possibly damaging |
Het |
Jmy |
T |
C |
13: 93,601,219 (GRCm39) |
M396V |
possibly damaging |
Het |
Ldb3 |
A |
T |
14: 34,300,639 (GRCm39) |
|
probably null |
Het |
Mre11a |
A |
G |
9: 14,721,143 (GRCm39) |
N354S |
probably benign |
Het |
Nbea |
A |
G |
3: 55,912,970 (GRCm39) |
V939A |
probably damaging |
Het |
Nphs1 |
T |
C |
7: 30,170,635 (GRCm39) |
S928P |
probably damaging |
Het |
Or5b109 |
G |
A |
19: 13,211,795 (GRCm39) |
M60I |
probably damaging |
Het |
Or7a40 |
A |
G |
16: 16,491,179 (GRCm39) |
V222A |
probably benign |
Het |
Or8g34 |
T |
A |
9: 39,372,920 (GRCm39) |
Y61* |
probably null |
Het |
Or9e1 |
T |
C |
11: 58,732,120 (GRCm39) |
F60S |
probably damaging |
Het |
Pla2g12b |
G |
A |
10: 59,257,323 (GRCm39) |
V169M |
probably damaging |
Het |
Polr1c |
C |
T |
17: 46,558,850 (GRCm39) |
V14M |
probably damaging |
Het |
Prg4 |
G |
A |
1: 150,327,122 (GRCm39) |
S898L |
probably damaging |
Het |
Prmt6 |
C |
A |
3: 110,157,510 (GRCm39) |
E260* |
probably null |
Het |
Ptx4 |
A |
G |
17: 25,341,842 (GRCm39) |
T106A |
probably benign |
Het |
Rab3il1 |
A |
G |
19: 10,005,673 (GRCm39) |
T87A |
probably damaging |
Het |
Sbf2 |
A |
G |
7: 109,974,788 (GRCm39) |
V783A |
probably damaging |
Het |
Scn2a |
A |
C |
2: 65,513,054 (GRCm39) |
D209A |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,423,314 (GRCm39) |
L345P |
probably damaging |
Het |
Slc18b1 |
A |
G |
10: 23,674,647 (GRCm39) |
D34G |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,411,244 (GRCm39) |
M934L |
possibly damaging |
Het |
Slx4 |
A |
G |
16: 3,798,850 (GRCm39) |
V1357A |
probably damaging |
Het |
Spidr |
T |
C |
16: 15,786,504 (GRCm39) |
E413G |
probably benign |
Het |
Taar1 |
A |
G |
10: 23,797,205 (GRCm39) |
Y301C |
probably damaging |
Het |
Tada2b |
A |
T |
5: 36,633,761 (GRCm39) |
D197E |
probably benign |
Het |
Taf1c |
G |
T |
8: 120,327,224 (GRCm39) |
Y418* |
probably null |
Het |
Tanc2 |
A |
G |
11: 105,805,796 (GRCm39) |
D394G |
probably damaging |
Het |
Tns3 |
G |
A |
11: 8,401,133 (GRCm39) |
A1055V |
probably benign |
Het |
Wdfy3 |
A |
G |
5: 102,009,266 (GRCm39) |
Y2767H |
probably damaging |
Het |
Zfhx3 |
A |
G |
8: 109,519,394 (GRCm39) |
N172S |
probably damaging |
Het |
Zfp839 |
T |
C |
12: 110,821,597 (GRCm39) |
V137A |
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 |
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 |
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'- AGGCTGTAGGTAACCCAGAG -3'
(R):5'- GAGGTCTGACATTATGGGGC -3'
Sequencing Primer
(F):5'- TGTAGGTAACCCAGAGCTCCAG -3'
(R):5'- ATTTCTGTAATCCTAGCACGGGGAAG -3'
|
Posted On |
2015-04-02 |