Incidental Mutation 'R5135:Kpna4'
ID396106
Institutional Source Beutler Lab
Gene Symbol Kpna4
Ensembl Gene ENSMUSG00000027782
Gene Namekaryopherin (importin) alpha 4
Synonyms1110058D08Rik, IPOA3
MMRRC Submission 043261-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5135 (G1)
Quality Score225
Status Validated
Chromosome3
Chromosomal Location69067149-69127113 bp(-) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 69092809 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029353] [ENSMUST00000127497] [ENSMUST00000194558]
Predicted Effect probably null
Transcript: ENSMUST00000029353
SMART Domains Protein: ENSMUSP00000029353
Gene: ENSMUSG00000027782

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 benign
Transcript: ENSMUST00000127497
SMART Domains Protein: ENSMUSP00000121076
Gene: ENSMUSG00000027782

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

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
Meta Mutation Damage Score 0.9501 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (82/84)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700056E22Rik T C 1: 184,033,506 S119G probably benign Het
4930553M12Rik G T 4: 88,868,271 H37N unknown Het
Adam10 T A 9: 70,766,074 C496S probably damaging Het
Akap2 G T 4: 57,855,912 A414S probably benign Het
Aldh18a1 A C 19: 40,554,817 probably benign Het
Alox5 A G 6: 116,413,786 F468S probably benign Het
Ankrd50 T C 3: 38,455,803 H805R probably damaging Het
Ap2s1 T A 7: 16,747,323 D72E probably damaging Het
Apaf1 T C 10: 91,060,094 Y372C probably damaging Het
Apob C T 12: 8,010,086 T2823I probably damaging Het
Bhmt A G 13: 93,627,323 V70A probably damaging Het
Cdc42bpg T A 19: 6,320,618 L1247H probably damaging Het
Cel A G 2: 28,559,423 V264A probably benign Het
Celsr2 T C 3: 108,398,659 N2043S probably damaging Het
Clca4a A T 3: 144,954,946 W706R probably damaging Het
Col22a1 G T 15: 71,799,337 P1058Q unknown Het
Cyp4a14 A G 4: 115,489,960 probably null Het
Dhx30 T G 9: 110,098,795 R55S probably damaging Het
Dlgap5 C T 14: 47,399,665 R452H probably damaging Het
Dnah12 T A 14: 26,770,477 D1191E probably damaging Het
Dock3 A T 9: 106,932,997 I164N probably damaging Het
Edrf1 T A 7: 133,651,044 M436K probably benign Het
Eif2ak2 T A 17: 78,866,345 Y268F probably damaging Het
Evi2a G A 11: 79,527,451 T111M possibly damaging Het
Fzd4 A G 7: 89,407,501 E252G probably damaging Het
Gcm2 A G 13: 41,102,959 V438A probably benign Het
Gm10722 T C 9: 3,000,937 C6R probably benign Het
Gm21994 A T 2: 150,255,490 Y34* probably null Het
Gm4787 G C 12: 81,377,830 T518S probably benign Het
Gm4846 T C 1: 166,483,982 D436G probably damaging Het
Gm5414 T A 15: 101,627,768 I141F probably damaging Het
Gm6185 T A 1: 161,198,231 noncoding transcript Het
Grip2 T C 6: 91,773,916 E776G possibly damaging Het
H2-Ob T A 17: 34,243,516 V160E probably benign Het
Hormad1 T C 3: 95,585,220 probably benign Het
Ighv2-1 A T 12: 113,574,462 probably benign Het
Igkv4-92 A T 6: 68,755,554 C14S probably benign Het
Iqsec3 T C 6: 121,383,919 I993M probably damaging Het
Kdm5b T A 1: 134,588,746 probably benign Het
Kitl T C 10: 100,088,222 probably null Het
Klhl26 G T 8: 70,452,718 R100S probably benign Het
Lama5 T A 2: 180,202,220 N383Y possibly damaging Het
Large1 T G 8: 72,818,096 I685L probably benign Het
Larp4b A G 13: 9,170,737 E590G probably damaging Het
Liph A T 16: 21,956,165 C425* probably null Het
Lrrc31 A T 3: 30,684,890 C327* probably null Het
Lrrc36 T C 8: 105,463,898 V733A probably benign Het
Mmel1 T A 4: 154,882,324 I83K probably benign Het
Myo16 G T 8: 10,476,114 V885L probably benign Het
Naip2 A T 13: 100,179,440 N277K probably damaging Het
Ncapg2 T A 12: 116,427,786 I485N possibly damaging Het
Npc1l1 A T 11: 6,224,245 Y687N possibly damaging Het
Obscn A T 11: 59,129,653 V922E probably damaging Het
Oc90 A G 15: 65,883,830 S223P probably benign Het
Olfr1 AGCGGTCGTAGGC AGC 11: 73,395,654 probably null Het
Olfr1253 A T 2: 89,751,895 L311H possibly damaging Het
Olfr1508 T C 14: 52,463,854 I52V probably benign Het
Pdlim5 C T 3: 142,304,365 R174H probably benign Het
Pex5l G T 3: 32,955,831 A386E probably damaging Het
Plcxd1 T A 5: 110,101,363 probably benign Het
Pramef8 T G 4: 143,419,009 S349R probably benign Het
Prl8a1 A T 13: 27,579,819 probably null Het
Ryr2 G T 13: 11,662,130 N3278K probably benign Het
Sacm1l A G 9: 123,577,025 M324V probably benign Het
Sdad1 T C 5: 92,303,934 T143A probably benign Het
Sec11a A T 7: 80,923,064 probably benign Het
Sema6a A G 18: 47,291,172 V223A probably damaging Het
Serpinb6c A G 13: 33,880,097 V325A probably damaging Het
Slc4a2 G A 5: 24,430,127 A177T possibly damaging Het
Slc5a4a A G 10: 76,147,594 N22D unknown Het
Stard13 C T 5: 151,062,767 W308* probably null Het
Tanc2 C T 11: 105,857,553 L504F possibly damaging Het
Tfap2e G T 4: 126,720,544 N282K probably damaging Het
Uhrf1bp1l T C 10: 89,789,355 I48T probably damaging Het
Usp36 G T 11: 118,264,905 T682K possibly damaging Het
Zc3h11a T C 1: 133,633,789 T315A probably benign Het
Zfa-ps T A 10: 52,543,022 noncoding transcript Het
Zfp663 A T 2: 165,353,670 C210S possibly damaging Het
Zfp747 T C 7: 127,374,394 I201M probably damaging Het
Zic4 C T 9: 91,384,152 T276M probably damaging 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
IGL02752:Kpna4 APN 3 69095530 nonsense probably null
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
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
Predicted Primers PCR Primer
(F):5'- ACAAGCACGCTCCTGTTTAC -3'
(R):5'- GCTAGTTTTCCTGTCAGTTGTTAAC -3'

Sequencing Primer
(F):5'- ACTGTTGCTCTACATTCAGAGGCAG -3'
(R):5'- TCCTGTCAGTTGTTAACAAAGTG -3'
Posted On2016-06-21