Incidental Mutation 'R4830:Tnpo3'
ID 372734
Institutional Source Beutler Lab
Gene Symbol Tnpo3
Ensembl Gene ENSMUSG00000012535
Gene Name transportin 3
Synonyms D6Ertd313e, 5730544L10Rik, C430013M08Rik
MMRRC Submission 042446-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4830 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 29540826-29609886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29568937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 472 (T472A)
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: T472A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: T472A

DomainStartEndE-ValueType
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: T472A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: T472A

DomainStartEndE-ValueType
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 0.0631 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.5%
Validation Efficiency 97% (71/73)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd3 C A 3: 121,553,933 (GRCm39) G643V probably damaging Het
Adamtsl1 A G 4: 86,274,619 (GRCm39) E1225G probably damaging Het
Agbl5 G A 5: 31,048,059 (GRCm39) R111H probably damaging Het
Ankle2 A C 5: 110,389,879 (GRCm39) K446Q probably damaging Het
Boc A C 16: 44,310,520 (GRCm39) M800R probably damaging Het
Ccnt1 A T 15: 98,441,332 (GRCm39) N645K probably damaging Het
Cd93 G A 2: 148,285,299 (GRCm39) Q16* probably null Het
Cpsf4l G T 11: 113,600,328 (GRCm39) probably benign Het
Cuzd1 T A 7: 130,919,783 (GRCm39) D111V probably damaging Het
Dab2 T C 15: 6,457,008 (GRCm39) C232R probably benign Het
Dmpk A T 7: 18,821,453 (GRCm39) Y237F probably damaging Het
Dnah6 T A 6: 73,021,745 (GRCm39) T3526S possibly damaging Het
Dock2 T C 11: 34,223,767 (GRCm39) probably null Het
Dsp G A 13: 38,376,840 (GRCm39) V1542I probably benign Het
Dst T A 1: 34,237,586 (GRCm39) probably null Het
Esd T C 14: 74,978,600 (GRCm39) L54S probably damaging Het
Exd1 C T 2: 119,350,807 (GRCm39) A485T probably benign Het
Gm3604 A T 13: 62,516,857 (GRCm39) N500K probably damaging Het
Grhl2 T A 15: 37,335,903 (GRCm39) probably null Het
Gsto1 C T 19: 47,852,830 (GRCm39) R222C probably benign Het
Inpp4a T A 1: 37,410,861 (GRCm39) M343K probably damaging Het
Itpripl2 T C 7: 118,090,280 (GRCm39) Q93R probably benign Het
Jakmip2 G A 18: 43,700,208 (GRCm39) T450I probably benign Het
Kdm6b A T 11: 69,294,620 (GRCm39) I1186N unknown Het
Kif1a T C 1: 92,948,931 (GRCm39) probably null Het
Klhl20 T C 1: 160,925,946 (GRCm39) K434R probably benign Het
Lemd3 T C 10: 120,767,853 (GRCm39) D697G probably damaging Het
Lipo3 A G 19: 33,753,987 (GRCm39) S383P probably damaging Het
Ltn1 C A 16: 87,176,582 (GRCm39) K1741N probably damaging Het
Lvrn A T 18: 47,038,418 (GRCm39) T991S probably damaging Het
Macroh2a2 C T 10: 61,575,132 (GRCm39) D355N possibly damaging Het
Mast3 C A 8: 71,241,559 (GRCm39) R151L possibly damaging Het
Mplkipl1 C T 19: 61,164,364 (GRCm39) G24R unknown Het
Muc4 G C 16: 32,753,919 (GRCm38) R1265P probably benign Het
Myoz1 T C 14: 20,705,377 (GRCm39) K14E probably damaging Het
Neb G T 2: 52,082,532 (GRCm39) Q5450K probably damaging Het
Nedd1 T A 10: 92,522,120 (GRCm39) N639I probably damaging Het
Nlrp4e A T 7: 23,036,165 (GRCm39) N673Y probably benign Het
Nop53 C T 7: 15,676,129 (GRCm39) R190Q probably damaging Het
Notch4 T C 17: 34,789,092 (GRCm39) Y468H probably damaging Het
Obscn T C 11: 58,958,433 (GRCm39) T3507A probably damaging Het
Opn5 T C 17: 42,922,187 (GRCm39) H5R probably benign Het
Or4l15 T C 14: 50,197,681 (GRCm39) N283D probably damaging Het
Patl1 T C 19: 11,902,515 (GRCm39) M349T probably benign Het
Phactr3 A G 2: 177,925,811 (GRCm39) N362S probably damaging Het
Pirb C T 7: 3,720,602 (GRCm39) G299S probably benign Het
Rapgef5 G A 12: 117,719,809 (GRCm39) R579Q probably damaging Het
Rgl1 T C 1: 152,430,081 (GRCm39) D234G probably benign Het
Serpinb3a C T 1: 106,976,316 (GRCm39) E122K probably benign Het
Slc22a15 T C 3: 101,782,919 (GRCm39) probably benign Het
Slc25a12 A T 2: 71,127,149 (GRCm39) V344E probably damaging Het
Slc43a2 T C 11: 75,434,119 (GRCm39) L99P probably damaging Het
Smim27 G T 4: 40,269,719 (GRCm39) probably null Het
Smtn A G 11: 3,470,736 (GRCm39) probably benign Het
Szt2 A T 4: 118,226,445 (GRCm39) Y3001N unknown Het
Tgfbr3 G T 5: 107,257,585 (GRCm39) P825T probably damaging Het
Trf T A 9: 103,105,114 (GRCm39) D66V probably damaging Het
Vmn1r124 A G 7: 20,993,624 (GRCm39) C307R probably damaging Het
Vps13b T A 15: 35,452,370 (GRCm39) F656Y possibly damaging Het
Zic1 G T 9: 91,244,584 (GRCm39) S358R probably damaging Het
Other mutations in Tnpo3
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- TAAGTAGTCCGACCCCACAG -3'
(R):5'- AATGCTCAGCACTTTCCTTTGG -3'

Sequencing Primer
(F):5'- AGCTAAGCTGCTCACGATG -3'
(R):5'- TGGATAGTTATTTCCTTAGAAGCCC -3'
Posted On 2016-03-01