Incidental Mutation 'IGL01833:Kpna3'
ID154834
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: 0.546) question?
Stock #IGL01833
Quality Score
Status
Chromosome14
Chromosomal Location61365211-61439874 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61370445 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 437 (N437S)
Ref Sequence ENSEMBL: ENSMUSP00000022496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022496]
Predicted Effect possibly damaging
Transcript: ENSMUST00000022496
AA Change: N437S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: N437S

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700061G19Rik A G 17: 56,881,062 N190S probably benign Het
Adamts18 T A 8: 113,743,096 Y658F probably benign Het
Camsap3 T A 8: 3,608,508 L1151Q probably damaging Het
Casp14 T A 10: 78,715,403 Y16F probably damaging Het
Clip2 A T 5: 134,498,084 probably benign Het
Clip4 G A 17: 71,827,790 probably benign Het
Cyb5r4 G A 9: 87,059,452 probably null Het
Ep400 A T 5: 110,680,008 N2329K unknown Het
Fam163a T A 1: 156,079,996 I17F probably damaging Het
Fam213b G T 4: 154,896,602 probably benign Het
Galnt1 T A 18: 24,267,560 I241N probably damaging Het
Galnt14 T G 17: 73,504,904 I441L probably benign Het
Gpr45 T C 1: 43,032,242 L15P probably benign Het
Hivep1 A T 13: 42,154,988 K235* probably null Het
Kcnip2 T C 19: 45,794,307 probably null Het
Lmtk2 A T 5: 144,175,935 R1158* probably null Het
Lpo A G 11: 87,807,333 V612A possibly damaging Het
Myh15 T C 16: 49,114,058 C663R probably damaging Het
Nacad G A 11: 6,605,700 R17C unknown Het
Olfr1351 A T 10: 79,017,936 M205L probably benign Het
Pcsk2 A G 2: 143,687,580 Q99R possibly damaging Het
Pkd1l2 T C 8: 117,060,525 N593S probably benign Het
Plce1 G A 19: 38,720,981 S1093N probably damaging Het
Rhpn2 T A 7: 35,376,171 Y258N probably benign Het
Serpinb9d T C 13: 33,200,705 Y222H probably damaging Het
Shprh T C 10: 11,191,062 L1401P probably damaging Het
Slc5a7 A G 17: 54,281,833 L262P probably damaging Het
Stat2 T G 10: 128,281,176 F293V probably benign Het
Stpg4 T A 17: 87,395,157 probably null Het
Styk1 G T 6: 131,302,366 probably benign Het
Sult2a2 T A 7: 13,734,796 D62E probably damaging Het
Sytl2 G A 7: 90,396,537 V632M probably damaging Het
Themis C T 10: 28,782,311 Q445* probably null Het
Tmem225 A T 9: 40,148,429 E35V probably damaging Het
Vmn1r48 T A 6: 90,036,283 T187S probably damaging Het
Xpnpep1 A G 19: 53,000,393 Y463H probably damaging 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
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
Posted On2014-02-04