Incidental Mutation 'IGL02752:Kpna4'
ID304245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kpna4
Ensembl Gene ENSMUSG00000027782
Gene Namekaryopherin (importin) alpha 4
Synonyms1110058D08Rik, IPOA3
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02752
Quality Score
Status
Chromosome3
Chromosomal Location69067149-69127113 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 69095530 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Stop codon at position 125 (R125*)
Ref Sequence ENSEMBL: ENSMUSP00000141227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029353] [ENSMUST00000127497] [ENSMUST00000194558]
Predicted Effect probably null
Transcript: ENSMUST00000029353
AA Change: R227*
SMART Domains Protein: ENSMUSP00000029353
Gene: ENSMUSG00000027782
AA Change: R227*

DomainStartEndE-ValueType
Pfam:IBB 7 93 2.4e-25 PFAM
ARM 103 144 7.73e-11 SMART
ARM 146 186 3.81e-10 SMART
ARM 188 229 2.04e1 SMART
ARM 232 271 4.15e-2 SMART
ARM 273 313 4.69e-10 SMART
ARM 315 355 9.6e-7 SMART
ARM 357 397 1.85e-8 SMART
ARM 400 440 9.45e-6 SMART
Pfam:Arm_3 447 499 4.1e-26 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000127497
AA Change: R101*
SMART Domains Protein: ENSMUSP00000121076
Gene: ENSMUSG00000027782
AA Change: R101*

DomainStartEndE-ValueType
Pfam:IBB 1 70 5.4e-21 PFAM
Pfam:Arm 79 112 5.4e-8 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000194558
AA Change: R125*
SMART Domains Protein: ENSMUSP00000141227
Gene: ENSMUSG00000027782
AA Change: R125*

DomainStartEndE-ValueType
Pfam:IBB 3 94 2.2e-27 PFAM
ARM 103 144 7.73e-11 SMART
ARM 146 186 3.81e-10 SMART
ARM 188 229 2.04e1 SMART
ARM 232 271 4.15e-2 SMART
ARM 273 313 4.69e-10 SMART
ARM 315 355 9.6e-7 SMART
ARM 357 397 1.85e-8 SMART
ARM 400 440 9.45e-6 SMART
low complexity region 479 493 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The nuclear import of karyophilic proteins is directed by short amino acid sequences termed nuclear localization signals (NLSs). Karyopherins, or importins, are cytoplasmic proteins that recognize NLSs and dock NLS-containing proteins to the nuclear pore complex. The protein encoded by this gene shares the sequence similarity with Xenopus importin-alpha and Saccharomyces cerevisiae Srp1. This protein is found to interact with the NLSs of DNA helicase Q1 and SV40 T antigen. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031439G07Rik C A 15: 84,955,841 E145* probably null Het
Abca9 A G 11: 110,127,368 F1142S probably damaging Het
Bod1l T C 5: 41,816,463 T2503A possibly damaging Het
Bpi A G 2: 158,262,424 D149G probably damaging Het
Cntnap5a A G 1: 116,580,531 T1258A probably benign Het
Col4a3 A G 1: 82,660,225 D256G unknown Het
Cul5 T C 9: 53,634,978 T338A probably damaging Het
Efs A G 14: 54,917,423 V453A probably damaging Het
Fbxw19 T A 9: 109,494,641 N89Y probably benign Het
Fbxw8 A G 5: 118,142,750 F114S probably damaging Het
Flnb A G 14: 7,917,338 I1606V probably benign Het
Gpr158 A G 2: 21,826,827 T913A possibly damaging Het
Gtf2f1 A T 17: 57,009,682 probably benign Het
Gtf2ird1 T A 5: 134,358,824 *1059L probably null Het
Hmgb4 T C 4: 128,260,341 K145E probably damaging Het
Igf2bp2 T A 16: 22,080,110 M250L probably benign Het
Igkv14-111 A G 6: 68,256,577 K21E probably benign Het
Il6st C T 13: 112,480,195 T92I probably damaging Het
Jak3 G T 8: 71,682,951 V581L possibly damaging Het
Kank2 C T 9: 21,795,033 V230M probably damaging Het
Kif1a G A 1: 93,039,847 A1123V possibly damaging Het
Mybpc3 A T 2: 91,132,637 probably null Het
Ntn4 T C 10: 93,710,559 V358A possibly damaging Het
Pacsin1 A T 17: 27,702,698 probably null Het
Pcsk2 A G 2: 143,773,945 N221S probably benign Het
Pik3cg A G 12: 32,204,263 L575P probably damaging Het
Pkhd1 A T 1: 20,553,591 V760E possibly damaging Het
Plxnc1 T C 10: 94,794,680 probably null Het
Ppfia1 T C 7: 144,519,604 T217A probably benign Het
Rictor A G 15: 6,787,371 T1375A probably benign Het
Scn1a A G 2: 66,331,412 I264T probably damaging Het
Sez6l2 T C 7: 126,953,733 S164P probably damaging Het
Slc31a1 C T 4: 62,385,632 probably benign Het
Slc45a1 T C 4: 150,638,021 N469D probably benign Het
Slco1a5 T C 6: 142,262,712 T76A probably benign Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Stfa3 G A 16: 36,450,637 T95I probably damaging Het
Stk11ip A C 1: 75,524,681 probably null Het
Tcn2 C A 11: 3,926,158 S90I possibly damaging Het
Traf1 A G 2: 34,958,008 S25P probably benign Het
Ttn G T 2: 76,791,781 probably benign Het
Wdfy4 A T 14: 33,076,326 I2041N probably damaging Het
Zfp512b A T 2: 181,588,071 D556E possibly damaging Het
Zfpm2 T A 15: 41,102,019 D633E probably benign Het
Other mutations in Kpna4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Kpna4 APN 3 69102257 splice site probably benign
IGL01642:Kpna4 APN 3 69085784 missense probably damaging 0.99
R0702:Kpna4 UTSW 3 69084105 missense probably damaging 1.00
R0865:Kpna4 UTSW 3 69101417 missense probably damaging 1.00
R0919:Kpna4 UTSW 3 69085828 splice site probably benign
R5135:Kpna4 UTSW 3 69092809 critical splice donor site probably null
R5955:Kpna4 UTSW 3 69089801 missense probably benign 0.05
R6008:Kpna4 UTSW 3 69126733 missense probably null 0.81
R7106:Kpna4 UTSW 3 69079464 nonsense probably null
R7153:Kpna4 UTSW 3 69089798 missense probably damaging 1.00
R7155:Kpna4 UTSW 3 69089933 missense probably damaging 1.00
R7294:Kpna4 UTSW 3 69092623 intron probably null
R7456:Kpna4 UTSW 3 69092848 missense probably damaging 1.00
Posted On2015-04-16