Incidental Mutation 'R5619:Tnpo3'
| ID |
439706 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
043278-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5619 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 29565197 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 585
(C585*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110906
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012679]
[ENSMUST00000115251]
[ENSMUST00000170350]
|
| AlphaFold |
Q6P2B1 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000012679
AA Change: C585*
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: C585*
| 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: C585*
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: C585*
| 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 |
noncoding transcript
Transcript: ENSMUST00000201797
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
99% (80/81) |
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
| 2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
| Adgre1 |
T |
G |
17: 57,727,437 (GRCm39) |
L456V |
probably benign |
Het |
| Adgrv1 |
C |
T |
13: 81,620,619 (GRCm39) |
G3943R |
probably damaging |
Het |
| Akap9 |
A |
G |
5: 4,004,760 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
T |
A |
1: 172,106,948 (GRCm39) |
I791F |
probably damaging |
Het |
| BC004004 |
C |
G |
17: 29,501,703 (GRCm39) |
P81A |
probably damaging |
Het |
| Brca2 |
C |
A |
5: 150,480,579 (GRCm39) |
T2755K |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,719,322 (GRCm39) |
D215G |
probably damaging |
Het |
| Ccdc142 |
C |
T |
6: 83,080,603 (GRCm39) |
S445F |
probably benign |
Het |
| Comt |
T |
C |
16: 18,230,469 (GRCm39) |
E80G |
probably damaging |
Het |
| Coq7 |
T |
C |
7: 118,126,709 (GRCm39) |
|
probably benign |
Het |
| Coro7 |
C |
A |
16: 4,494,799 (GRCm39) |
|
probably null |
Het |
| Cyp2c40 |
A |
G |
19: 39,792,228 (GRCm39) |
S239P |
probably damaging |
Het |
| Dnah5 |
T |
C |
15: 28,302,581 (GRCm39) |
S1613P |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,118,885 (GRCm39) |
I2193M |
probably benign |
Het |
| Eipr1 |
A |
G |
12: 28,917,078 (GRCm39) |
Y382C |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,778,469 (GRCm39) |
H447Q |
probably benign |
Het |
| Galk2 |
A |
T |
2: 125,817,317 (GRCm39) |
R369* |
probably null |
Het |
| Gli2 |
G |
A |
1: 118,764,485 (GRCm39) |
A1222V |
probably benign |
Het |
| Golim4 |
T |
A |
3: 75,813,802 (GRCm39) |
K141* |
probably null |
Het |
| Gtpbp3 |
G |
T |
8: 71,943,692 (GRCm39) |
|
probably benign |
Het |
| Gzmd |
C |
T |
14: 56,367,224 (GRCm39) |
A223T |
probably benign |
Het |
| Igf2r |
T |
C |
17: 12,958,221 (GRCm39) |
R151G |
probably damaging |
Het |
| Itga8 |
T |
A |
2: 12,270,139 (GRCm39) |
R116W |
probably damaging |
Het |
| Klhdc1 |
T |
G |
12: 69,304,919 (GRCm39) |
|
probably null |
Het |
| Klhl25 |
T |
C |
7: 75,516,602 (GRCm39) |
Y198H |
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,190,587 (GRCm39) |
M136K |
probably benign |
Het |
| Lipf |
A |
T |
19: 33,944,292 (GRCm39) |
Y167F |
possibly damaging |
Het |
| Lpar1 |
T |
C |
4: 58,487,155 (GRCm39) |
K39E |
possibly damaging |
Het |
| Mbtd1 |
T |
A |
11: 93,820,705 (GRCm39) |
|
probably null |
Het |
| Myo1a |
T |
A |
10: 127,554,413 (GRCm39) |
N794K |
probably benign |
Het |
| Nmrk1 |
T |
C |
19: 18,622,452 (GRCm39) |
L177P |
possibly damaging |
Het |
| Noxa1 |
C |
T |
2: 24,975,988 (GRCm39) |
E401K |
probably damaging |
Het |
| Or10g9b |
T |
A |
9: 39,918,039 (GRCm39) |
M69L |
probably benign |
Het |
| Or4f53 |
A |
T |
2: 111,087,856 (GRCm39) |
Y132F |
probably damaging |
Het |
| Ostm1 |
T |
A |
10: 42,555,325 (GRCm39) |
C116S |
probably damaging |
Het |
| Pcdhga7 |
T |
C |
18: 37,848,800 (GRCm39) |
I269T |
probably benign |
Het |
| Pfkfb3 |
T |
C |
2: 11,489,470 (GRCm39) |
K276R |
probably benign |
Het |
| Pfkp |
A |
T |
13: 6,648,765 (GRCm39) |
|
probably benign |
Het |
| Pitpnm1 |
A |
G |
19: 4,153,270 (GRCm39) |
D142G |
probably damaging |
Het |
| Pkp3 |
T |
C |
7: 140,668,419 (GRCm39) |
L556P |
probably damaging |
Het |
| Plb1 |
C |
A |
5: 32,490,841 (GRCm39) |
T1046N |
probably damaging |
Het |
| Plxnb2 |
T |
C |
15: 89,047,012 (GRCm39) |
S770G |
possibly damaging |
Het |
| Polk |
A |
T |
13: 96,620,064 (GRCm39) |
I733N |
probably damaging |
Het |
| Potegl |
T |
C |
2: 23,147,017 (GRCm39) |
|
probably null |
Het |
| Prkg2 |
C |
A |
5: 99,136,156 (GRCm39) |
C301F |
probably damaging |
Het |
| Rabgap1l |
T |
C |
1: 160,066,142 (GRCm39) |
T189A |
probably benign |
Het |
| Raph1 |
T |
C |
1: 60,529,414 (GRCm39) |
|
probably benign |
Het |
| Rbm22 |
T |
A |
18: 60,693,899 (GRCm39) |
M1K |
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rnf186 |
T |
A |
4: 138,694,715 (GRCm39) |
I85N |
probably benign |
Het |
| Ryr2 |
C |
A |
13: 11,723,088 (GRCm39) |
R2517L |
probably damaging |
Het |
| Sec63 |
T |
A |
10: 42,665,378 (GRCm39) |
Y103N |
probably damaging |
Het |
| Serpinb3a |
G |
A |
1: 106,974,838 (GRCm39) |
P232S |
probably damaging |
Het |
| Slco6d1 |
C |
A |
1: 98,423,947 (GRCm39) |
T533K |
probably damaging |
Het |
| Smarcad1 |
T |
A |
6: 65,088,865 (GRCm39) |
D1000E |
probably benign |
Het |
| Spata46 |
A |
T |
1: 170,136,490 (GRCm39) |
I14F |
probably damaging |
Het |
| Speer4b |
T |
C |
5: 27,703,815 (GRCm39) |
H106R |
possibly damaging |
Het |
| Spint4 |
T |
C |
2: 164,542,761 (GRCm39) |
L118P |
probably benign |
Het |
| Sptbn5 |
A |
G |
2: 119,880,613 (GRCm39) |
|
noncoding transcript |
Het |
| Tgfbr3 |
A |
T |
5: 107,288,380 (GRCm39) |
I427N |
probably benign |
Het |
| Thbs2 |
C |
A |
17: 14,901,506 (GRCm39) |
C491F |
probably damaging |
Het |
| Tmem232 |
T |
A |
17: 65,793,506 (GRCm39) |
E64D |
probably benign |
Het |
| Ttc13 |
A |
T |
8: 125,406,683 (GRCm39) |
|
probably benign |
Het |
| Tuba8 |
C |
T |
6: 121,202,854 (GRCm39) |
A389V |
probably damaging |
Het |
| Uqcc4 |
G |
A |
17: 25,403,963 (GRCm39) |
S101N |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,830,833 (GRCm39) |
I30V |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,387,529 (GRCm39) |
K681* |
probably null |
Het |
| Vmn2r88 |
A |
G |
14: 51,651,367 (GRCm39) |
E235G |
probably damaging |
Het |
| Vps29 |
T |
A |
5: 122,492,511 (GRCm39) |
|
probably benign |
Het |
| Wdr1 |
A |
C |
5: 38,686,879 (GRCm39) |
V568G |
possibly damaging |
Het |
| Zfp64 |
T |
G |
2: 168,741,734 (GRCm39) |
Q398P |
probably damaging |
Het |
| Zfp64 |
G |
T |
2: 168,741,735 (GRCm39) |
Q398K |
probably damaging |
Het |
| Zfp839 |
T |
C |
12: 110,830,470 (GRCm39) |
Y398H |
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 |
|
|
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 |
|
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'- GCCTGTTTCCTACTATGTGAATAC -3'
(R):5'- TTGGAGTAGAGGCAACACAGTC -3'
Sequencing Primer
(F):5'- CCTCTTGCCTTTTAAACACA -3'
(R):5'- ACATACTCATGTTTGCTGCTAAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation