Incidental Mutation 'IGL00226:Kpna3'
ID 2145
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kpna3
Ensembl Gene ENSMUSG00000021929
Gene Name karyopherin subunit alpha 3
Synonyms importin alpha 4, IPOA4, importin alpha 4
Accession Numbers
Essential gene? Possibly essential (E-score: 0.645) question?
Stock # IGL00226
Quality Score
Status
Chromosome 14
Chromosomal Location 61602660-61677323 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61611737 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 300 (V300A)
Ref Sequence ENSEMBL: ENSMUSP00000022496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022496]
AlphaFold O35344
Predicted Effect possibly damaging
Transcript: ENSMUST00000022496
AA Change: V300A

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: V300A

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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810062G17Rik C A 3: 36,533,690 (GRCm39) probably benign Het
Ankib1 G A 5: 3,777,573 (GRCm39) S439L probably benign Het
Cdcp3 T A 7: 130,839,823 (GRCm39) probably null Het
Cpd G T 11: 76,688,615 (GRCm39) H886N probably benign Het
Dhrs7 A G 12: 72,706,124 (GRCm39) C94R probably damaging Het
Dmxl2 T A 9: 54,323,277 (GRCm39) H1369L probably damaging Het
Dnah5 A G 15: 28,272,488 (GRCm39) N1068S probably benign Het
Dop1a T A 9: 86,433,732 (GRCm39) D2329E possibly damaging Het
Eif1ad A G 19: 5,418,212 (GRCm39) probably benign Het
Fam149a T C 8: 45,792,380 (GRCm39) R693G probably damaging Het
Fbxw18 T A 9: 109,522,411 (GRCm39) T153S probably benign Het
Glg1 A T 8: 111,886,481 (GRCm39) C1104S probably damaging Het
Jak3 T C 8: 72,134,341 (GRCm39) probably benign Het
Kctd6 C T 14: 8,222,856 (GRCm38) R233C possibly damaging Het
Msh5 A T 17: 35,248,857 (GRCm39) Y725* probably null Het
Myh2 T C 11: 67,076,059 (GRCm39) S749P possibly damaging Het
Or2ag15 T A 7: 106,340,908 (GRCm39) T78S probably benign Het
Or4c110 A G 2: 88,831,683 (GRCm39) probably benign Het
Or5ac17 A T 16: 59,036,859 (GRCm39) M39K probably damaging Het
Or8g19 T A 9: 39,056,053 (GRCm39) I219N possibly damaging Het
Pdcd1 A G 1: 93,967,860 (GRCm39) probably benign Het
Pde5a T A 3: 122,588,006 (GRCm39) F391I probably damaging Het
Ptpn12 A C 5: 21,203,666 (GRCm39) S371A probably damaging Het
Sec16b A G 1: 157,365,900 (GRCm39) Y254C probably damaging Het
Slc2a10 G A 2: 165,356,700 (GRCm39) C120Y probably damaging Het
Spink5 G A 18: 44,120,938 (GRCm39) probably benign Het
Svil A G 18: 5,099,045 (GRCm39) Q1250R probably benign Het
Tph1 G T 7: 46,306,294 (GRCm39) N222K probably benign Het
Vmn2r83 A T 10: 79,314,805 (GRCm39) D351V probably damaging Het
Zfp54 A G 17: 21,653,821 (GRCm39) D105G possibly damaging Het
Zfp623 T C 15: 75,820,052 (GRCm39) I336T probably damaging Het
Other mutations in Kpna3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Kpna3 APN 14 61,629,302 (GRCm39) splice site probably benign
IGL01013:Kpna3 APN 14 61,607,966 (GRCm39) missense probably damaging 1.00
IGL01833:Kpna3 APN 14 61,607,894 (GRCm39) missense possibly damaging 0.92
IGL02661:Kpna3 APN 14 61,610,398 (GRCm39) splice site probably benign
IGL03070:Kpna3 APN 14 61,608,231 (GRCm39) splice site probably benign
R1428:Kpna3 UTSW 14 61,620,669 (GRCm39) splice site probably benign
R1719:Kpna3 UTSW 14 61,624,926 (GRCm39) missense probably damaging 1.00
R1728:Kpna3 UTSW 14 61,605,150 (GRCm39) missense probably benign 0.00
R1760:Kpna3 UTSW 14 61,607,990 (GRCm39) missense probably benign 0.03
R1784:Kpna3 UTSW 14 61,605,150 (GRCm39) missense probably benign 0.00
R2107:Kpna3 UTSW 14 61,607,933 (GRCm39) missense possibly damaging 0.52
R4184:Kpna3 UTSW 14 61,605,624 (GRCm39) missense probably damaging 0.96
R4952:Kpna3 UTSW 14 61,607,838 (GRCm39) missense probably damaging 1.00
R5081:Kpna3 UTSW 14 61,628,694 (GRCm39) missense probably damaging 0.97
R5766:Kpna3 UTSW 14 61,640,463 (GRCm39) missense probably benign 0.07
R5887:Kpna3 UTSW 14 61,640,461 (GRCm39) missense probably benign 0.04
R5927:Kpna3 UTSW 14 61,622,096 (GRCm39) missense probably damaging 0.96
R7116:Kpna3 UTSW 14 61,605,635 (GRCm39) missense probably benign 0.32
R7615:Kpna3 UTSW 14 61,610,411 (GRCm39) missense possibly damaging 0.81
R7674:Kpna3 UTSW 14 61,605,086 (GRCm39) missense probably benign
R7799:Kpna3 UTSW 14 61,622,182 (GRCm39) missense probably damaging 1.00
R8115:Kpna3 UTSW 14 61,608,367 (GRCm39) missense probably damaging 1.00
R8239:Kpna3 UTSW 14 61,624,919 (GRCm39) missense probably damaging 1.00
R8896:Kpna3 UTSW 14 61,629,294 (GRCm39) missense probably benign 0.11
R9636:Kpna3 UTSW 14 61,624,903 (GRCm39) missense probably damaging 1.00
Posted On 2011-12-09