Incidental Mutation 'R6008:Kpna4'
ID 479582
Institutional Source Beutler Lab
Gene Symbol Kpna4
Ensembl Gene ENSMUSG00000027782
Gene Name karyopherin subunit alpha 4
Synonyms 1110058D08Rik, importin alpha 3, IPOA3
MMRRC Submission 044185-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6008 (G1)
Quality Score 203.009
Status Not validated
Chromosome 3
Chromosomal Location 68979554-69034425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 69034066 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 125 (E125G)
Ref Sequence ENSEMBL: ENSMUSP00000029353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029353] [ENSMUST00000127497] [ENSMUST00000194558]
AlphaFold O35343
Predicted Effect probably null
Transcript: ENSMUST00000029353
AA Change: E125G

PolyPhen 2 Score 0.810 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000029353
Gene: ENSMUSG00000027782
AA Change: E125G

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 noncoding transcript
Transcript: ENSMUST00000193684
Predicted Effect probably null
Transcript: ENSMUST00000194558
AA Change: E23G

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000141227
Gene: ENSMUSG00000027782
AA Change: E23G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195406
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.2%
Validation Efficiency 98% (55/56)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc4 A G 14: 118,727,978 (GRCm39) L1268P possibly damaging Het
Acot3 T A 12: 84,103,860 (GRCm39) V223E probably damaging Het
Afap1 T G 5: 36,154,895 (GRCm39) S680A probably damaging Het
Aox1 C T 1: 58,116,672 (GRCm39) A801V probably damaging Het
Atp8b1 G T 18: 64,710,687 (GRCm39) T155K probably damaging Het
Bard1 C A 1: 71,069,909 (GRCm39) V690F possibly damaging Het
Btnl9 C A 11: 49,073,792 (GRCm39) probably null Het
C1rl A G 6: 124,470,147 (GRCm39) N13S probably benign Het
Cad C A 5: 31,226,456 (GRCm39) T1166K probably damaging Het
Ckap5 T A 2: 91,393,334 (GRCm39) M405K probably damaging Het
Csn1s1 T C 5: 87,825,944 (GRCm39) probably null Het
Ctnna2 A G 6: 76,892,811 (GRCm39) L792P probably damaging Het
Dennd3 T A 15: 73,438,929 (GRCm39) V1099D possibly damaging Het
Dnai2 A G 11: 114,643,816 (GRCm39) N482S probably benign Het
Dock10 T C 1: 80,583,890 (GRCm39) T184A probably damaging Het
Ear2 T A 14: 44,340,546 (GRCm39) L68H probably damaging Het
Edn3 A G 2: 174,621,525 (GRCm39) T149A probably benign Het
Erf C T 7: 24,945,041 (GRCm39) V131M probably benign Het
Esp34 A G 17: 38,865,118 (GRCm39) probably benign Het
Gm7247 C T 14: 51,601,805 (GRCm39) S26F probably benign Het
Golga1 A G 2: 38,937,099 (GRCm39) V161A probably benign Het
Gpr17 T A 18: 32,080,530 (GRCm39) T178S probably benign Het
Gsg1l2 T A 11: 67,665,537 (GRCm39) I35N possibly damaging Het
Hmgn3 T A 9: 82,994,284 (GRCm39) T46S probably damaging Het
Hydin A C 8: 111,325,717 (GRCm39) I4709L probably benign Het
Ifna9 A T 4: 88,510,600 (GRCm39) L8Q probably null Het
Iftap A T 2: 101,413,898 (GRCm39) M133K possibly damaging Het
Lrriq1 A G 10: 103,006,325 (GRCm39) S1267P probably damaging Het
Mab21l1 G T 3: 55,690,518 (GRCm39) C35F possibly damaging Het
Map3k2 A G 18: 32,336,104 (GRCm39) D97G probably damaging Het
Matcap2 G A 9: 22,335,422 (GRCm39) W13* probably null Het
Mdn1 T A 4: 32,741,073 (GRCm39) I3799N probably damaging Het
Mki67 G A 7: 135,299,158 (GRCm39) R1959C probably damaging Het
Mroh1 A T 15: 76,335,557 (GRCm39) H1400L possibly damaging Het
Mroh4 T A 15: 74,497,321 (GRCm39) K167* probably null Het
Mroh8 A G 2: 157,094,984 (GRCm39) I334T probably benign Het
Or51a25 T A 7: 102,373,574 (GRCm39) Y41F probably damaging Het
Phf11d T A 14: 59,602,898 (GRCm39) probably benign Het
Phf21a C T 2: 92,182,097 (GRCm39) T342I possibly damaging Het
Pira12 G T 7: 3,897,599 (GRCm39) H499N probably damaging Het
Plekhh3 T C 11: 101,055,591 (GRCm39) E483G possibly damaging Het
Ppp1r3b G A 8: 35,851,355 (GRCm39) A65T probably damaging Het
Pramel30 C T 4: 144,057,777 (GRCm39) T128I probably benign Het
Prkcq A G 2: 11,261,097 (GRCm39) H383R probably damaging Het
Pum1 T C 4: 130,496,158 (GRCm39) V961A probably damaging Het
Scgb2b27 T C 7: 33,711,561 (GRCm39) E96G probably benign Het
Sel1l2 T A 2: 140,086,025 (GRCm39) E522V probably damaging Het
Socs4 T G 14: 47,527,618 (GRCm39) C184W probably damaging Het
Spdye4c A T 2: 128,438,553 (GRCm39) I304F probably benign Het
Sptbn2 A G 19: 4,789,306 (GRCm39) I1249V possibly damaging Het
Sys1 T C 2: 164,306,507 (GRCm39) S154P probably benign Het
Taf6l T C 19: 8,755,530 (GRCm39) Q275R possibly damaging Het
Tas2r107 A G 6: 131,636,875 (GRCm39) V58A possibly damaging Het
Thada T A 17: 84,744,062 (GRCm39) I749F probably damaging Het
Tubb1 T A 2: 174,299,567 (GRCm39) H416Q probably benign Het
Vmn2r109 G A 17: 20,760,981 (GRCm39) T792I probably damaging Het
Zfp988 A G 4: 147,416,259 (GRCm39) Q231R probably benign Het
Zmynd8 T C 2: 165,684,707 (GRCm39) I182V possibly damaging Het
Zzz3 T C 3: 152,133,788 (GRCm39) V282A probably benign 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
R0865:Kpna4 UTSW 3 69,008,750 (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
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'- GCGATTAGGAAAACCTGCATGTG -3'
(R):5'- TAAAGCCGGGCCCTCAGATC -3'

Sequencing Primer
(F):5'- AGAAGTTCCGAGGTCGCC -3'
(R):5'- AGTCGTCTTCGCCAGAGCTG -3'
Posted On 2017-06-26