Incidental Mutation 'IGL00321:Kpna3'
ID13578
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kpna3
Ensembl Gene ENSMUSG00000021929
Gene Namekaryopherin (importin) alpha 3
SynonymsIPOA4
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.622) question?
Stock #IGL00321
Quality Score
Status
Chromosome14
Chromosomal Location61365211-61439874 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 61391853 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022496]
Predicted Effect probably benign
Transcript: ENSMUST00000022496
SMART Domains Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929

DomainStartEndE-ValueType
Pfam:IBB 7 93 1e-25 PFAM
ARM 103 144 9.52e-11 SMART
ARM 146 186 2.15e-9 SMART
ARM 188 229 8.59e0 SMART
ARM 232 271 1.78e-1 SMART
ARM 273 313 4.31e-9 SMART
ARM 315 355 5.91e-7 SMART
ARM 357 397 5.22e-8 SMART
ARM 400 440 1.51e-4 SMART
Pfam:Arm_3 447 499 5.4e-25 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. [provided by RefSeq, Jan 2009]
PHENOTYPE: Mice homozygous for a null mutation are viable and fertile. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam39 A G 8: 40,826,746 R725G possibly damaging Het
Arid2 A G 15: 96,289,089 E74G probably damaging Het
Carf T A 1: 60,124,842 probably benign Het
Cit A T 5: 115,846,465 Q32L probably damaging Het
Dennd4b A G 3: 90,271,207 T526A possibly damaging Het
Dnhd1 A G 7: 105,677,995 E717G probably damaging Het
Ercc6 T A 14: 32,568,072 I968N probably damaging Het
Fcrl1 A T 3: 87,389,635 Y297F probably damaging Het
Gas2l3 A G 10: 89,413,627 L543P probably benign Het
Gm5346 A G 8: 43,625,381 I602T probably benign Het
Hid1 A T 11: 115,359,069 D84E probably benign Het
Ifit1bl2 C T 19: 34,619,919 S99N probably benign Het
Myadm C A 7: 3,297,223 P167Q possibly damaging Het
Ociad1 C T 5: 73,304,543 probably benign Het
Olfr224 A C 11: 58,566,767 Y193D probably damaging Het
Pcdh11x A T X: 120,592,568 K1029N probably benign Het
Pcdhb11 A G 18: 37,421,973 T119A probably benign Het
Phldb2 T C 16: 45,772,254 R926G probably damaging Het
Ppwd1 A G 13: 104,217,143 F369S probably damaging Het
Rreb1 T A 13: 37,916,496 M201K probably benign Het
Ryr1 A T 7: 29,102,810 I795N probably damaging Het
Slc3a1 T C 17: 85,060,833 W510R probably damaging Het
Slc44a5 T C 3: 154,262,939 L589P probably damaging Het
Tfr2 A G 5: 137,574,455 D176G probably null Het
Tom1 T A 8: 75,052,174 S24T probably benign Het
Vmn2r66 T A 7: 85,007,091 Q239L probably benign Het
Ythdc2 A G 18: 44,859,973 T149A probably benign Het
Zc3h3 A G 15: 75,779,313 I686T probably damaging Het
Other mutations in Kpna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Kpna3 APN 14 61374288 missense possibly damaging 0.94
IGL01013:Kpna3 APN 14 61370517 missense probably damaging 1.00
IGL01833:Kpna3 APN 14 61370445 missense possibly damaging 0.92
IGL02661:Kpna3 APN 14 61372949 splice site probably benign
IGL03070:Kpna3 APN 14 61370782 splice site probably benign
R1428:Kpna3 UTSW 14 61383220 splice site probably benign
R1719:Kpna3 UTSW 14 61387477 missense probably damaging 1.00
R1728:Kpna3 UTSW 14 61367701 missense probably benign 0.00
R1760:Kpna3 UTSW 14 61370541 missense probably benign 0.03
R1784:Kpna3 UTSW 14 61367701 missense probably benign 0.00
R2107:Kpna3 UTSW 14 61370484 missense possibly damaging 0.52
R4184:Kpna3 UTSW 14 61368175 missense probably damaging 0.96
R4952:Kpna3 UTSW 14 61370389 missense probably damaging 1.00
R5081:Kpna3 UTSW 14 61391245 missense probably damaging 0.97
R5766:Kpna3 UTSW 14 61403014 missense probably benign 0.07
R5887:Kpna3 UTSW 14 61403012 missense probably benign 0.04
R5927:Kpna3 UTSW 14 61384647 missense probably damaging 0.96
R7116:Kpna3 UTSW 14 61368186 missense probably benign 0.32
R7615:Kpna3 UTSW 14 61372962 missense possibly damaging 0.81
R7674:Kpna3 UTSW 14 61367637 missense probably benign
R7799:Kpna3 UTSW 14 61384733 missense probably damaging 1.00
R8115:Kpna3 UTSW 14 61370918 missense probably damaging 1.00
R8239:Kpna3 UTSW 14 61387470 missense probably damaging 1.00
R8896:Kpna3 UTSW 14 61391845 missense probably benign 0.11
Posted On2012-12-06