Incidental Mutation 'R0865:Kpna4'
ID 82285
Institutional Source Beutler Lab
Gene Symbol Kpna4
Ensembl Gene ENSMUSG00000027782
Gene Name karyopherin subunit alpha 4
Synonyms 1110058D08Rik, importin alpha 3, IPOA3
MMRRC Submission 039039-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0865 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 68979554-69034425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69008750 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 145 (E145G)
Ref Sequence ENSEMBL: ENSMUSP00000029353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029353] [ENSMUST00000127497] [ENSMUST00000194558]
AlphaFold O35343
Predicted Effect probably damaging
Transcript: ENSMUST00000029353
AA Change: E145G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029353
Gene: ENSMUSG00000027782
AA Change: E145G

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 damaging
Transcript: ENSMUST00000127497
AA Change: E19G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000121076
Gene: ENSMUSG00000027782
AA Change: E19G

DomainStartEndE-ValueType
Pfam:IBB 1 70 5.4e-21 PFAM
Pfam:Arm 79 112 5.4e-8 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000194558
AA Change: E43G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000141227
Gene: ENSMUSG00000027782
AA Change: E43G

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 0.6773 question?
Coding Region Coverage
  • 1x: 99.6%
  • 3x: 99.0%
  • 10x: 97.5%
  • 20x: 95.2%
Validation Efficiency 98% (53/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 A G 15: 76,479,843 (GRCm39) E581G probably damaging Het
Adcy5 A G 16: 35,094,841 (GRCm39) N666S probably damaging Het
Apcs T C 1: 172,721,782 (GRCm39) D188G probably benign Het
Arih2 A G 9: 108,526,499 (GRCm39) probably benign Het
AU040320 A G 4: 126,742,677 (GRCm39) K981E possibly damaging Het
Brwd1 A T 16: 95,869,784 (GRCm39) I81K probably damaging Het
Cacng8 T A 7: 3,460,625 (GRCm39) I136N possibly damaging Het
Cdh22 A T 2: 165,022,976 (GRCm39) W32R probably damaging Het
Cel A G 2: 28,450,627 (GRCm39) S133P probably damaging Het
Clasp2 A G 9: 113,740,568 (GRCm39) T495A possibly damaging Het
Clock A T 5: 76,414,271 (GRCm39) probably benign Het
Cox6a2 A G 7: 127,804,995 (GRCm39) probably benign Het
Cyp2b19 C A 7: 26,461,654 (GRCm39) probably benign Het
Dnah11 G A 12: 118,154,579 (GRCm39) Q234* probably null Het
Gga3 A T 11: 115,483,285 (GRCm39) N91K probably damaging Het
Idh1 T C 1: 65,200,315 (GRCm39) T350A probably benign Het
Ints11 A G 4: 155,971,564 (GRCm39) probably null Het
Itgb1 A G 8: 129,436,732 (GRCm39) probably null Het
Kank4 A T 4: 98,662,900 (GRCm39) probably benign Het
Kansl1 A T 11: 104,315,194 (GRCm39) D281E probably benign Het
Kmt2a T C 9: 44,730,067 (GRCm39) probably benign Het
Lacc1 A G 14: 77,271,584 (GRCm39) I201T possibly damaging Het
Larp7 T C 3: 127,337,884 (GRCm39) K392E probably damaging Het
Lbh T A 17: 73,228,224 (GRCm39) M23K probably benign Het
Myo15a A T 11: 60,382,514 (GRCm39) E361V probably damaging Het
Ncor2 A G 5: 125,116,046 (GRCm39) S470P probably benign Het
Ngef T A 1: 87,412,323 (GRCm39) M449L probably benign Het
Odad1 A G 7: 45,591,512 (GRCm39) T259A probably benign Het
Or2w3 T C 11: 58,556,478 (GRCm39) I31T possibly damaging Het
Or7e178 T A 9: 20,226,045 (GRCm39) Y57F probably damaging Het
Peak1 A T 9: 56,165,116 (GRCm39) D937E probably benign Het
Pnpla7 A G 2: 24,872,135 (GRCm39) K72E probably benign Het
Ptprn T G 1: 75,224,782 (GRCm39) probably null Het
Scgn C T 13: 24,146,102 (GRCm39) probably null Het
Sdk2 T C 11: 113,741,748 (GRCm39) I824V probably benign Het
Slc38a3 A G 9: 107,532,847 (GRCm39) S326P probably damaging Het
Spen A G 4: 141,199,181 (GRCm39) S3126P probably benign Het
Tbcd T C 11: 121,493,815 (GRCm39) C902R possibly damaging Het
Tmem63b T C 17: 45,972,445 (GRCm39) I721V probably benign Het
Trim30c A G 7: 104,039,658 (GRCm39) S46P probably damaging Het
Trim59 T C 3: 68,944,941 (GRCm39) D133G probably damaging Het
Trpm7 A T 2: 126,641,159 (GRCm39) probably null Het
Ttll10 A G 4: 156,128,135 (GRCm39) L391P probably damaging Het
Ttn T C 2: 76,623,585 (GRCm39) T15331A possibly damaging Het
Vmn1r237 C T 17: 21,534,976 (GRCm39) T233I probably damaging Het
Vmn2r115 A T 17: 23,565,382 (GRCm39) D423V possibly damaging Het
Vmn2r25 T A 6: 123,829,976 (GRCm39) R58S probably benign Het
Vmn2r71 A T 7: 85,268,516 (GRCm39) I240F probably benign Het
Wdr3 A G 3: 100,060,112 (GRCm39) probably benign Het
Zc3h14 T C 12: 98,745,528 (GRCm39) probably null Het
Zc3hav1 C T 6: 38,330,837 (GRCm39) probably benign Het
Zfp335 A T 2: 164,741,415 (GRCm39) probably null Het
Other mutations in Kpna4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01387:Kpna4 APN 3 69,009,590 (GRCm39) splice site probably benign
IGL01642:Kpna4 APN 3 68,993,117 (GRCm39) missense probably damaging 0.99
IGL02752:Kpna4 APN 3 69,002,863 (GRCm39) nonsense probably null
R0702:Kpna4 UTSW 3 68,991,438 (GRCm39) missense probably damaging 1.00
R0919:Kpna4 UTSW 3 68,993,161 (GRCm39) splice site probably benign
R5135:Kpna4 UTSW 3 69,000,142 (GRCm39) critical splice donor site probably null
R5955:Kpna4 UTSW 3 68,997,134 (GRCm39) missense probably benign 0.05
R6008:Kpna4 UTSW 3 69,034,066 (GRCm39) missense probably null 0.81
R7106:Kpna4 UTSW 3 68,986,797 (GRCm39) nonsense probably null
R7153:Kpna4 UTSW 3 68,997,131 (GRCm39) missense probably damaging 1.00
R7155:Kpna4 UTSW 3 68,997,266 (GRCm39) missense probably damaging 1.00
R7294:Kpna4 UTSW 3 68,999,956 (GRCm39) splice site probably null
R7456:Kpna4 UTSW 3 69,000,181 (GRCm39) missense probably damaging 1.00
R8961:Kpna4 UTSW 3 68,986,821 (GRCm39) missense probably benign 0.05
R9057:Kpna4 UTSW 3 69,002,018 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCAGCTTGAACTGCACTTAATTGAATTCC -3'
(R):5'- TGCTTCCAAATGATGTGTAAAGTGACTTAGAT -3'

Sequencing Primer
(F):5'- GAATTCCTTGGTTATCACTTGAAGC -3'
(R):5'- CATTGGAAATGAATGTTTGGGATTG -3'
Posted On 2013-11-08