Incidental Mutation 'IGL02661:Kpna3'
ID302570
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 #IGL02661
Quality Score
Status
Chromosome14
Chromosomal Location61365211-61439874 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to A at 61372949 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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225207
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034E13Rik G T 18: 52,660,494 W33L probably damaging Het
Adam34 A T 8: 43,651,535 C358S probably damaging Het
Ak5 C A 3: 152,463,956 V561F probably benign Het
Ap1s1 T C 5: 137,037,473 D158G probably benign Het
Bard1 A G 1: 71,075,310 S171P probably damaging Het
Bsn A C 9: 108,106,936 Y534* probably null Het
Clcn4 A T 7: 7,291,731 probably null Het
Cyp2j7 T C 4: 96,236,650 T4A probably benign Het
Dnajc10 T A 2: 80,326,740 probably benign Het
Dtl G T 1: 191,541,371 T475N probably benign Het
Eif3m T C 2: 105,004,969 Y120C probably damaging Het
Gab1 A G 8: 80,788,937 S251P probably damaging Het
Gba T A 3: 89,203,527 V14E probably benign Het
Ggcx C T 6: 72,418,360 P145S possibly damaging Het
Gm13889 G A 2: 93,956,679 T150I probably benign Het
Gm4978 C A 9: 69,450,898 probably benign Het
Herc2 A G 7: 56,113,073 D850G probably damaging Het
Hspa1l A G 17: 34,977,275 I97V probably benign Het
Ighv1-4 T G 12: 114,487,230 K86T probably damaging Het
Ints4 C A 7: 97,495,705 L175I probably benign Het
Kif13b T G 14: 64,767,691 V1144G probably benign Het
Man2c1 A G 9: 57,137,482 D371G probably damaging Het
Mtf1 T C 4: 124,825,109 L305P probably damaging Het
Myo15b T G 11: 115,884,069 V2139G probably benign Het
Nalcn T C 14: 123,592,909 probably benign Het
Neurod2 T C 11: 98,327,579 Q253R possibly damaging Het
Nfkbil1 C A 17: 35,220,671 A289S probably benign Het
Olfr1277 T A 2: 111,269,466 R300S possibly damaging Het
Paxbp1 A T 16: 91,030,525 I474K probably benign Het
Pde6c A T 19: 38,180,800 I798F probably damaging Het
Pon3 T A 6: 5,256,205 T8S probably benign Het
Prkdc A G 16: 15,769,825 T2525A possibly damaging Het
Rnase10 T G 14: 51,009,816 V180G probably damaging Het
Rreb1 T A 13: 37,930,802 C712* probably null Het
Scamp2 T C 9: 57,587,414 probably benign Het
Serpina3i A T 12: 104,265,256 K51* probably null Het
Smyd4 C A 11: 75,390,941 C413* probably null Het
Spata2 C T 2: 167,483,361 V513M probably damaging Het
Sri T A 5: 8,063,252 probably benign Het
Urah A T 7: 140,837,705 K119M probably damaging Het
Wdr19 C T 5: 65,245,808 T1005I probably benign Het
Other mutations in Kpna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Kpna3 APN 14 61374288 missense possibly damaging 0.94
IGL00321:Kpna3 APN 14 61391853 splice site probably benign
IGL01013:Kpna3 APN 14 61370517 missense probably damaging 1.00
IGL01833:Kpna3 APN 14 61370445 missense possibly damaging 0.92
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 On2015-04-16