Incidental Mutation 'IGL01987:Tnpo3'
ID 181960
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tnpo3
Ensembl Gene ENSMUSG00000012535
Gene Name transportin 3
Synonyms D6Ertd313e, 5730544L10Rik, C430013M08Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01987
Quality Score
Status
Chromosome 6
Chromosomal Location 29540826-29609886 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 29560200 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 648 (T648A)
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: T648A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000012679
Gene: ENSMUSG00000012535
AA Change: T648A

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: T648A

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000110906
Gene: ENSMUSG00000012535
AA Change: T648A

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 probably benign
Transcript: ENSMUST00000170647
SMART Domains Protein: ENSMUSP00000133115
Gene: ENSMUSG00000012535

DomainStartEndE-ValueType
SCOP:d1qbkb_ 2 187 1e-5 SMART
PDB:4C0P|D 2 247 1e-156 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000171865
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A G 17: 24,565,202 (GRCm39) F77L probably benign Het
Abca8a A G 11: 109,964,981 (GRCm39) F439L possibly damaging Het
Abcb5 A T 12: 118,891,093 (GRCm39) V468D probably damaging Het
Adgrb3 A T 1: 25,140,512 (GRCm39) probably null Het
Ajm1 T C 2: 25,467,970 (GRCm39) E647G possibly damaging Het
Ankrd28 T C 14: 31,500,931 (GRCm39) D50G probably damaging Het
Cacna1b A T 2: 24,587,579 (GRCm39) probably null Het
Capn9 A G 8: 125,302,965 (GRCm39) S28G probably benign Het
Cdk5rap2 A G 4: 70,220,319 (GRCm39) probably null Het
Dmtf1l C T X: 125,722,098 (GRCm39) E336K possibly damaging Het
E2f5 T C 3: 14,652,363 (GRCm39) probably benign Het
Fam135b A G 15: 71,333,964 (GRCm39) Y1077H probably benign Het
Fap A G 2: 62,359,020 (GRCm39) Y428H probably damaging Het
Fasn A G 11: 120,708,899 (GRCm39) S595P probably damaging Het
Flnb T C 14: 7,922,748 (GRCm38) probably null Het
Fzd3 A T 14: 65,477,347 (GRCm39) V69E probably damaging Het
Gcdh A T 8: 85,620,110 (GRCm39) probably benign Het
Ido1 A G 8: 25,083,159 (GRCm39) Y89H probably benign Het
Itga2 G A 13: 114,984,482 (GRCm39) Q1010* probably null Het
Man1a2 T C 3: 100,551,873 (GRCm39) Y280C probably damaging Het
Mgat4d T C 8: 84,094,731 (GRCm39) I256T probably damaging Het
Mmrn1 A G 6: 60,921,557 (GRCm39) K5E probably benign Het
Ncapd2 A G 6: 125,162,804 (GRCm39) probably benign Het
Or2at4 A T 7: 99,384,478 (GRCm39) I43F probably damaging Het
Or7g18 A T 9: 18,787,003 (GRCm39) I127L probably benign Het
Pcnx3 T C 19: 5,727,507 (GRCm39) D644G probably damaging Het
Pole T C 5: 110,485,098 (GRCm39) V2280A probably benign Het
Ptprf T A 4: 118,134,567 (GRCm39) M24L probably benign Het
Sbno1 T C 5: 124,542,282 (GRCm39) N337S probably damaging Het
Serpinc1 T A 1: 160,820,977 (GRCm39) F141L probably damaging Het
Shroom3 C A 5: 93,090,048 (GRCm39) R933S probably damaging Het
Slc24a2 G A 4: 87,146,033 (GRCm39) P7L probably benign Het
Slc25a32 G A 15: 38,961,002 (GRCm39) T227I probably damaging Het
Slc7a1 A G 5: 148,274,002 (GRCm39) F396L possibly damaging Het
Smok2a G A 17: 13,445,377 (GRCm39) R318H probably benign Het
Sntg2 A G 12: 30,362,569 (GRCm39) V59A probably damaging Het
Sspo A G 6: 48,454,558 (GRCm39) probably null Het
Tnfrsf1a G A 6: 125,333,827 (GRCm39) V27I probably damaging Het
Tpbg A G 9: 85,727,252 (GRCm39) Y407C probably damaging Het
Wbp2nl A T 15: 82,192,762 (GRCm39) M149L probably benign Het
Yif1a T A 19: 5,141,625 (GRCm39) M181K probably benign Het
Zkscan8 A G 13: 21,710,729 (GRCm39) L127S 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
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
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
Posted On 2014-05-07