Incidental Mutation 'IGL01013:Kpna3'
ID53964
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: 0.531) question?
Stock #IGL01013
Quality Score
Status
Chromosome14
Chromosomal Location61365211-61439874 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 61370517 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Lysine at position 413 (I413K)
Ref Sequence ENSEMBL: ENSMUSP00000022496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022496]
Predicted Effect probably damaging
Transcript: ENSMUST00000022496
AA Change: I413K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929
AA Change: I413K

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 E499D possibly damaging Het
Abca1 A T 4: 53,038,185 L2059* probably null Het
Ankar T A 1: 72,650,989 I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 R1103L probably benign Het
B4galt6 A G 18: 20,689,013 V308A probably damaging Het
Ccdc162 G A 10: 41,581,339 P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 R141* probably null Het
Cpsf1 G A 15: 76,599,297 Q883* probably null Het
Crot A G 5: 8,993,575 Y16H probably benign Het
Cyld T G 8: 88,742,362 L587R probably damaging Het
Fam114a1 G A 5: 65,031,395 probably null Het
Fam89b G T 19: 5,729,369 D53E probably benign Het
Fig4 T C 10: 41,267,786 M226V probably benign Het
Gm10722 A T 9: 3,002,230 Y184F probably damaging Het
Hp C A 8: 109,579,021 probably benign Het
Igsf9b G T 9: 27,334,304 R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 N620D possibly damaging Het
Jakmip3 A C 7: 139,017,573 E228A possibly damaging Het
Letm1 A T 5: 33,762,590 C202S possibly damaging Het
Lmod2 C A 6: 24,604,135 Q370K probably damaging Het
Map4k5 T C 12: 69,827,526 probably benign Het
Mcidas T A 13: 112,997,585 probably benign Het
Mme A G 3: 63,327,860 probably null Het
Mrc1 T C 2: 14,328,425 W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 Q473K probably damaging Het
Muc6 A T 7: 141,648,066 C719* probably null Het
Nsun7 T C 5: 66,283,601 I355T possibly damaging Het
Padi6 A G 4: 140,729,003 L560P probably damaging Het
Parl C A 16: 20,282,790 A285S possibly damaging Het
Pclo A T 5: 14,793,834 M4795L unknown Het
Polr2f A G 15: 79,146,129 Y56C probably damaging Het
Rasgrp2 A T 19: 6,404,383 H152L probably damaging Het
Rpl10l T C 12: 66,284,227 D44G probably benign Het
Slc25a16 A G 10: 62,944,433 probably null Het
Snrnp200 G A 2: 127,232,472 E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 probably null Het
Tcf7l2 T C 19: 55,919,627 probably benign Het
Tnrc6c G T 11: 117,722,029 V498L probably benign Het
Tymp G A 15: 89,376,310 H102Y probably damaging Het
Wdr76 T C 2: 121,535,497 S492P probably benign Het
Zc3h12d T C 10: 7,839,956 I41T 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
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
Posted On2013-06-28