Incidental Mutation 'R5512:Tnpo3'
| ID |
440086 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5512 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 29575045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 373
(L373P)
|
| 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: L373P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: L373P
| 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: L373P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: L373P
| 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: ENSMUST00000167056
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000169302
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201797
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310057M21Rik |
A |
G |
7: 130,952,389 (GRCm39) |
V364A |
possibly damaging |
Het |
| Abca8b |
C |
A |
11: 109,868,639 (GRCm39) |
G175V |
probably damaging |
Het |
| Adgre5 |
T |
C |
8: 84,455,715 (GRCm39) |
N198D |
probably benign |
Het |
| Adgrf4 |
G |
T |
17: 42,978,176 (GRCm39) |
T389K |
probably benign |
Het |
| Apc |
T |
A |
18: 34,443,962 (GRCm39) |
|
probably benign |
Het |
| Appl2 |
T |
A |
10: 83,441,682 (GRCm39) |
I524F |
probably damaging |
Het |
| Arhgef37 |
G |
A |
18: 61,632,845 (GRCm39) |
Q531* |
probably null |
Het |
| Atp7b |
T |
C |
8: 22,502,755 (GRCm39) |
T694A |
probably benign |
Het |
| Cacna1g |
T |
A |
11: 94,334,968 (GRCm39) |
I780F |
probably damaging |
Het |
| Calcoco2 |
T |
C |
11: 95,994,162 (GRCm39) |
K95E |
probably damaging |
Het |
| Cars1 |
T |
C |
7: 143,123,870 (GRCm39) |
D388G |
possibly damaging |
Het |
| Ccdc150 |
A |
C |
1: 54,393,806 (GRCm39) |
E690A |
probably damaging |
Het |
| Cdc73 |
G |
T |
1: 143,578,354 (GRCm39) |
D3E |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,370,165 (GRCm39) |
|
probably null |
Het |
| Cep170b |
T |
C |
12: 112,699,919 (GRCm39) |
S143P |
possibly damaging |
Het |
| Cherp |
T |
C |
8: 73,217,110 (GRCm39) |
I607V |
possibly damaging |
Het |
| CN725425 |
T |
A |
15: 91,124,959 (GRCm39) |
H166Q |
probably benign |
Het |
| Dcaf6 |
A |
G |
1: 165,227,404 (GRCm39) |
V241A |
possibly damaging |
Het |
| Dot1l |
C |
T |
10: 80,624,825 (GRCm39) |
P881S |
possibly damaging |
Het |
| Drgx |
A |
G |
14: 32,322,001 (GRCm39) |
H5R |
probably damaging |
Het |
| Dsg1c |
A |
T |
18: 20,405,568 (GRCm39) |
N327I |
probably damaging |
Het |
| Fbxw7 |
G |
A |
3: 84,862,216 (GRCm39) |
R182H |
probably damaging |
Het |
| Fkbp1b |
A |
T |
12: 4,888,183 (GRCm39) |
V24E |
probably benign |
Het |
| Fut11 |
T |
C |
14: 20,746,069 (GRCm39) |
S304P |
probably damaging |
Het |
| Ggt1 |
C |
T |
10: 75,420,718 (GRCm39) |
T361I |
probably damaging |
Het |
| Gimap7 |
G |
T |
6: 48,700,530 (GRCm39) |
A39S |
probably benign |
Het |
| Gm12689 |
T |
C |
4: 99,184,402 (GRCm39) |
I85T |
unknown |
Het |
| Gm17541 |
G |
T |
12: 4,739,452 (GRCm39) |
|
probably benign |
Het |
| Gmip |
T |
A |
8: 70,270,540 (GRCm39) |
V750E |
probably benign |
Het |
| Gna14 |
A |
G |
19: 16,585,492 (GRCm39) |
E290G |
probably benign |
Het |
| Gpnmb |
T |
C |
6: 49,022,398 (GRCm39) |
V176A |
possibly damaging |
Het |
| Hhla1 |
T |
C |
15: 65,795,865 (GRCm39) |
K447R |
probably benign |
Het |
| Hsd3b1 |
A |
G |
3: 98,760,521 (GRCm39) |
Y157H |
probably benign |
Het |
| Iqgap2 |
G |
A |
13: 95,811,884 (GRCm39) |
Q706* |
probably null |
Het |
| Krt222 |
A |
C |
11: 99,125,781 (GRCm39) |
S283R |
probably damaging |
Het |
| Ldb2 |
G |
A |
5: 44,637,586 (GRCm39) |
R241W |
probably damaging |
Het |
| Lrrc8d |
G |
A |
5: 105,960,651 (GRCm39) |
E354K |
probably benign |
Het |
| Lrrc8d |
C |
G |
5: 105,960,650 (GRCm39) |
F353L |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,698,526 (GRCm39) |
I536F |
probably damaging |
Het |
| Mptx1 |
A |
G |
1: 174,160,315 (GRCm39) |
D207G |
probably benign |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Napsa |
A |
G |
7: 44,222,040 (GRCm39) |
M1V |
probably null |
Het |
| Ncam1 |
A |
T |
9: 49,420,999 (GRCm39) |
|
probably null |
Het |
| Nckap5 |
G |
A |
1: 125,955,481 (GRCm39) |
P425L |
possibly damaging |
Het |
| Nol8 |
A |
G |
13: 49,830,263 (GRCm39) |
S1116G |
probably benign |
Het |
| Nrde2 |
G |
T |
12: 100,108,509 (GRCm39) |
Q361K |
probably benign |
Het |
| Nudt13 |
G |
A |
14: 20,357,800 (GRCm39) |
G133D |
probably damaging |
Het |
| Ofcc1 |
G |
T |
13: 40,360,286 (GRCm39) |
Q248K |
probably benign |
Het |
| Olfm4 |
A |
G |
14: 80,258,787 (GRCm39) |
D345G |
probably benign |
Het |
| Or2t6 |
C |
A |
14: 14,175,633 (GRCm38) |
G150C |
probably damaging |
Het |
| Or4k41 |
G |
A |
2: 111,280,099 (GRCm39) |
V205I |
probably benign |
Het |
| Osbpl3 |
T |
G |
6: 50,286,340 (GRCm39) |
K659N |
probably damaging |
Het |
| Pdk2 |
G |
A |
11: 94,930,292 (GRCm39) |
T48M |
probably damaging |
Het |
| Phf11a |
A |
T |
14: 59,524,999 (GRCm39) |
D68E |
probably benign |
Het |
| Purb |
A |
G |
11: 6,425,702 (GRCm39) |
V62A |
probably damaging |
Het |
| Rabep2 |
A |
G |
7: 126,037,971 (GRCm39) |
T248A |
possibly damaging |
Het |
| Rps19bp1 |
CCTTCTTCTTCTTCTTCTTCTT |
CCTTCTTCTTCTTCTTCTT |
15: 80,145,250 (GRCm39) |
|
probably benign |
Het |
| Rtl1 |
C |
T |
12: 109,557,805 (GRCm39) |
E1345K |
unknown |
Het |
| Sema3e |
G |
A |
5: 14,280,194 (GRCm39) |
A358T |
probably damaging |
Het |
| Slc29a2 |
A |
G |
19: 5,076,426 (GRCm39) |
I105V |
probably benign |
Het |
| Slc35e2 |
C |
T |
4: 155,694,483 (GRCm39) |
P10L |
probably benign |
Het |
| Slc6a5 |
G |
A |
7: 49,591,573 (GRCm39) |
V513I |
probably damaging |
Het |
| Slco4a1 |
T |
A |
2: 180,115,907 (GRCm39) |
F681Y |
possibly damaging |
Het |
| Sp1 |
A |
G |
15: 102,339,445 (GRCm39) |
N775S |
possibly damaging |
Het |
| Sspo |
T |
A |
6: 48,432,605 (GRCm39) |
V827D |
probably damaging |
Het |
| Taar7f |
C |
T |
10: 23,926,321 (GRCm39) |
T305M |
possibly damaging |
Het |
| Tars2 |
A |
T |
3: 95,657,728 (GRCm39) |
C238S |
probably damaging |
Het |
| Tasor2 |
A |
T |
13: 3,645,517 (GRCm39) |
Y111N |
probably damaging |
Het |
| Tnks1bp1 |
C |
A |
2: 84,893,178 (GRCm39) |
P373Q |
probably benign |
Het |
| Unc45b |
A |
C |
11: 82,805,898 (GRCm39) |
D135A |
possibly damaging |
Het |
| Vmn1r235 |
A |
T |
17: 21,481,677 (GRCm39) |
M1L |
probably benign |
Het |
| Vmn2r66 |
T |
C |
7: 84,657,149 (GRCm39) |
I85M |
probably damaging |
Het |
| Vmn2r80 |
T |
G |
10: 79,004,066 (GRCm39) |
L93W |
probably benign |
Het |
| Vwf |
G |
T |
6: 125,650,850 (GRCm39) |
|
probably benign |
Het |
| Ythdf3 |
A |
G |
3: 16,238,086 (GRCm39) |
R9G |
probably damaging |
Het |
| Zfp229 |
A |
G |
17: 21,964,017 (GRCm39) |
|
probably null |
Het |
| Zfp958 |
A |
C |
8: 4,675,838 (GRCm39) |
|
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 |
|
|
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'- TGCTGGCTCAGTAGGAACAAC -3'
(R):5'- AGTAACGAAACTGTTCTTTCCTCTC -3'
Sequencing Primer
(F):5'- GGAACAACCTTTCTACAGAGGTC -3'
(R):5'- CTTCTTTTCCTCCACAAATAAACCG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation