Incidental Mutation 'R9652:Tnpo3'
| ID |
735370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tnpo3
|
| Ensembl Gene |
ENSMUSG00000012535 |
| Gene Name |
transportin 3 |
| Synonyms |
D6Ertd313e, 5730544L10Rik, C430013M08Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9652 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
29540826-29609886 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to A
at 29560173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Stop codon
at position 657
(R657*)
|
| 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: R657*
|
| SMART Domains |
Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: R657*
| 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: R657*
|
| SMART Domains |
Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: R657*
| 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 benign
Transcript: ENSMUST00000170647
|
| SMART Domains |
Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.6%
- 20x: 99.1%
|
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l1 |
G |
A |
18: 61,876,432 (GRCm39) |
T395M |
probably damaging |
Het |
| Akap8l |
T |
C |
17: 32,557,783 (GRCm39) |
N35D |
probably damaging |
Het |
| Atr |
T |
A |
9: 95,756,887 (GRCm39) |
L922Q |
probably damaging |
Het |
| B3gnt9 |
G |
T |
8: 105,981,129 (GRCm39) |
F86L |
probably damaging |
Het |
| Bmp1 |
T |
C |
14: 70,715,360 (GRCm39) |
D925G |
probably damaging |
Het |
| Camkmt |
A |
T |
17: 85,759,713 (GRCm39) |
R284S |
probably benign |
Het |
| Cavin3 |
G |
T |
7: 105,131,304 (GRCm39) |
H21Q |
probably damaging |
Het |
| Ccp110 |
A |
G |
7: 118,334,553 (GRCm39) |
H180R |
|
Het |
| Cdh23 |
A |
T |
10: 60,167,135 (GRCm39) |
V1837E |
probably damaging |
Het |
| Ces3b |
G |
T |
8: 105,812,257 (GRCm39) |
A169S |
probably damaging |
Het |
| Chpt1 |
T |
C |
10: 88,325,499 (GRCm39) |
N122S |
probably benign |
Het |
| Cramp1 |
C |
A |
17: 25,201,783 (GRCm39) |
K566N |
probably damaging |
Het |
| Ctbp2 |
C |
G |
7: 132,615,933 (GRCm39) |
R334P |
probably damaging |
Het |
| Cwh43 |
T |
C |
5: 73,572,340 (GRCm39) |
S193P |
probably benign |
Het |
| Dcstamp |
A |
T |
15: 39,623,792 (GRCm39) |
D469V |
probably benign |
Het |
| Dst |
T |
A |
1: 34,219,458 (GRCm39) |
I1966N |
probably benign |
Het |
| Eif3i |
G |
T |
4: 129,489,094 (GRCm39) |
F121L |
probably benign |
Het |
| Erbb2 |
T |
C |
11: 98,326,812 (GRCm39) |
S1074P |
probably damaging |
Het |
| Fam186b |
G |
A |
15: 99,177,616 (GRCm39) |
A570V |
probably damaging |
Het |
| Fbn2 |
A |
G |
18: 58,146,722 (GRCm39) |
|
probably null |
Het |
| Foxo3 |
C |
T |
10: 42,073,021 (GRCm39) |
V499M |
probably damaging |
Het |
| Gm2a |
T |
C |
11: 54,999,764 (GRCm39) |
V95A |
probably benign |
Het |
| Gp5 |
A |
C |
16: 30,128,393 (GRCm39) |
F94V |
probably damaging |
Het |
| Gramd4 |
G |
A |
15: 86,016,160 (GRCm39) |
E504K |
probably damaging |
Het |
| Gusb |
A |
G |
5: 130,026,652 (GRCm39) |
S450P |
probably damaging |
Het |
| Htr5a |
A |
G |
5: 28,047,838 (GRCm39) |
N131S |
possibly damaging |
Het |
| Itga2 |
G |
A |
13: 115,020,991 (GRCm39) |
P120L |
probably benign |
Het |
| Itpkb |
G |
T |
1: 180,160,056 (GRCm39) |
E61* |
probably null |
Het |
| Katnbl1 |
T |
A |
2: 112,239,497 (GRCm39) |
V232D |
probably damaging |
Het |
| Kifap3 |
T |
C |
1: 163,689,657 (GRCm39) |
L547P |
probably damaging |
Het |
| Krt6a |
C |
T |
15: 101,599,120 (GRCm39) |
V482M |
probably benign |
Het |
| Lrfn5 |
T |
A |
12: 61,890,418 (GRCm39) |
V569D |
probably damaging |
Het |
| Luzp2 |
A |
G |
7: 54,702,580 (GRCm39) |
T48A |
probably damaging |
Het |
| Mical2 |
G |
T |
7: 111,945,996 (GRCm39) |
R986L |
probably damaging |
Het |
| Mroh8 |
G |
A |
2: 157,094,970 (GRCm39) |
Q339* |
probably null |
Het |
| Msln |
A |
T |
17: 25,968,042 (GRCm39) |
V541E |
probably damaging |
Het |
| Muc16 |
T |
A |
9: 18,498,178 (GRCm39) |
M6590L |
probably benign |
Het |
| Nhsl3 |
T |
C |
4: 129,117,962 (GRCm39) |
E279G |
possibly damaging |
Het |
| Nisch |
A |
T |
14: 30,893,628 (GRCm39) |
V1315E |
probably damaging |
Het |
| Nubp2 |
G |
A |
17: 25,103,382 (GRCm39) |
T165I |
probably damaging |
Het |
| Oog3 |
T |
G |
4: 143,884,489 (GRCm39) |
R482S |
probably benign |
Het |
| Or2a7 |
A |
G |
6: 43,150,991 (GRCm39) |
M24V |
probably benign |
Het |
| Or56a42-ps1 |
A |
T |
7: 104,775,985 (GRCm39) |
N164K |
probably benign |
Het |
| Or6c33 |
T |
C |
10: 129,853,809 (GRCm39) |
I193T |
possibly damaging |
Het |
| Or7a41 |
T |
C |
10: 78,871,230 (GRCm39) |
I200T |
probably benign |
Het |
| Or8k39 |
A |
T |
2: 86,563,636 (GRCm39) |
F107I |
probably damaging |
Het |
| P3h4 |
A |
T |
11: 100,304,499 (GRCm39) |
C247* |
probably null |
Het |
| Pakap |
G |
A |
4: 57,710,125 (GRCm39) |
A357T |
possibly damaging |
Het |
| Plch2 |
T |
A |
4: 155,082,942 (GRCm39) |
M569L |
probably benign |
Het |
| Plcl1 |
A |
G |
1: 55,735,450 (GRCm39) |
T264A |
probably benign |
Het |
| Rad51ap1 |
G |
T |
6: 126,904,526 (GRCm39) |
N178K |
probably benign |
Het |
| Rasa4 |
T |
C |
5: 136,130,494 (GRCm39) |
L340P |
probably damaging |
Het |
| Rassf10 |
A |
G |
7: 112,554,784 (GRCm39) |
T462A |
probably benign |
Het |
| Rlf |
G |
C |
4: 121,007,865 (GRCm39) |
L482V |
probably damaging |
Het |
| Robo1 |
T |
G |
16: 72,821,330 (GRCm39) |
S1357A |
possibly damaging |
Het |
| Rp1l1 |
T |
C |
14: 64,269,714 (GRCm39) |
S1767P |
probably damaging |
Het |
| Rpl3l |
T |
A |
17: 24,947,328 (GRCm39) |
L14Q |
probably damaging |
Het |
| Ryr3 |
T |
A |
2: 112,635,047 (GRCm39) |
T2024S |
possibly damaging |
Het |
| Sbf2 |
T |
C |
7: 110,040,702 (GRCm39) |
Q375R |
possibly damaging |
Het |
| Sema6a |
T |
C |
18: 47,382,252 (GRCm39) |
Q765R |
probably damaging |
Het |
| Senp6 |
T |
A |
9: 80,021,228 (GRCm39) |
Y303N |
probably damaging |
Het |
| Sertad4 |
C |
T |
1: 192,528,836 (GRCm39) |
D327N |
probably damaging |
Het |
| Slc22a15 |
T |
A |
3: 101,790,848 (GRCm39) |
Y219F |
possibly damaging |
Het |
| Slco1b2 |
T |
G |
6: 141,594,358 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
G |
T |
2: 127,067,959 (GRCm39) |
V819L |
probably damaging |
Het |
| Ssb |
C |
A |
2: 69,700,784 (GRCm39) |
A288E |
probably damaging |
Het |
| Syne2 |
A |
G |
12: 76,101,620 (GRCm39) |
H638R |
probably benign |
Het |
| Tm7sf3 |
A |
G |
6: 146,527,698 (GRCm39) |
S43P |
probably benign |
Het |
| Tmem200c |
A |
G |
17: 69,149,181 (GRCm39) |
H588R |
probably benign |
Het |
| Traf6 |
T |
C |
2: 101,518,927 (GRCm39) |
C139R |
probably damaging |
Het |
| Txnrd1 |
C |
A |
10: 82,720,390 (GRCm39) |
N424K |
possibly damaging |
Het |
| Ubqln3 |
T |
C |
7: 103,791,962 (GRCm39) |
I43V |
probably damaging |
Het |
| Usp32 |
A |
G |
11: 84,921,317 (GRCm39) |
V699A |
probably damaging |
Het |
| Vmn2r103 |
T |
C |
17: 20,014,027 (GRCm39) |
V273A |
probably benign |
Het |
| Vmn2r8 |
A |
G |
5: 108,951,107 (GRCm39) |
S113P |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,860,826 (GRCm39) |
I161N |
probably damaging |
Het |
| Zfp474 |
A |
T |
18: 52,772,015 (GRCm39) |
I223F |
probably damaging |
Het |
| Zfp583 |
A |
G |
7: 6,320,328 (GRCm39) |
L228P |
probably damaging |
Het |
| Zfyve27 |
A |
G |
19: 42,165,856 (GRCm39) |
T76A |
possibly 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 |
|
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 |
|
|
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'- ACACTACTTCTATACAGGCTGTTTC -3'
(R):5'- AATCAGGCCATGTGTACTAGTG -3'
Sequencing Primer
(F):5'- TGAAGGACTAGTTCTGCC -3'
(R):5'- TGCTGTAATCCCAGTAACTCAGGAG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation