Incidental Mutation 'R6569:Tnpo3'
ID 526185
Institutional Source Beutler Lab
Gene Symbol Tnpo3
Ensembl Gene ENSMUSG00000012535
Gene Name transportin 3
Synonyms D6Ertd313e, 5730544L10Rik, C430013M08Rik
MMRRC Submission 044693-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6569 (G1)
Quality Score 225.009
Status Not validated
Chromosome 6
Chromosomal Location 29540826-29609886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 29571065 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 443 (I443T)
Ref Sequence ENSEMBL: ENSMUSP00000110906 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012679] [ENSMUST00000115251] [ENSMUST00000170350]
AlphaFold Q6P2B1
Predicted Effect possibly damaging
Transcript: ENSMUST00000012679
AA Change: I443T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: I443T

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 possibly damaging
Transcript: ENSMUST00000115251
AA Change: I443T

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: I443T

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.8%
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alms1 T A 6: 85,618,321 (GRCm39) V2789D probably benign Het
Ccdc40 A G 11: 119,133,560 (GRCm39) T567A probably damaging Het
Col7a1 T G 9: 108,807,178 (GRCm39) probably null Het
Crb2 A T 2: 37,682,163 (GRCm39) Q173L probably damaging Het
Cuzd1 T C 7: 130,913,486 (GRCm39) Y377C probably damaging Het
Echdc1 T C 10: 29,198,280 (GRCm39) M75T probably damaging Het
Faah G T 4: 115,874,829 (GRCm39) A9E probably benign Het
Gpatch1 T C 7: 34,991,163 (GRCm39) D627G probably damaging Het
Grid1 G T 14: 35,045,296 (GRCm39) V380F possibly damaging Het
Klf4 T C 4: 55,530,394 (GRCm39) Y239C probably damaging Het
Mkx C A 18: 6,992,820 (GRCm39) E155* probably null Het
Mmp11 G A 10: 75,763,216 (GRCm39) probably benign Het
Mms19 T C 19: 41,952,807 (GRCm39) K101E possibly damaging Het
Mrpl23 C A 7: 142,088,776 (GRCm39) R44S probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Or4a75 A G 2: 89,448,359 (GRCm39) F59S possibly damaging Het
Or7e166 G A 9: 19,624,638 (GRCm39) V172I probably benign Het
Or8u10 A G 2: 85,915,849 (GRCm39) S91P possibly damaging Het
Pcdhgc5 C T 18: 37,953,248 (GRCm39) P174L probably damaging Het
Phf20l1 A T 15: 66,501,673 (GRCm39) D619V probably damaging Het
Plcz1 C T 6: 139,953,433 (GRCm39) A395T possibly damaging Het
Polr1f T A 12: 33,487,882 (GRCm39) C266S probably benign Het
Rbm45 A G 2: 76,209,416 (GRCm39) D410G probably damaging Het
Sh3bp1 T C 15: 78,795,896 (GRCm39) L675P probably damaging Het
Taf6l G A 19: 8,750,074 (GRCm39) T208I probably damaging Het
Vmn1r42 A G 6: 89,822,425 (GRCm39) L48P probably damaging Het
Vmn2r25 A G 6: 123,828,941 (GRCm39) V111A probably benign 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
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
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'- TCATCAATGTAGGCTACCCTGC -3'
(R):5'- CTGGGAAATTAAGAACCAGAACATC -3'

Sequencing Primer
(F):5'- TACCCTGCACTAGACAGAAGTTGG -3'
(R):5'- TCTACAGAGTGAGTTCCAGGAC -3'
Posted On 2018-06-22