Incidental Mutation 'R5955:Kpna4'
ID 471092
Institutional Source Beutler Lab
Gene Symbol Kpna4
Ensembl Gene ENSMUSG00000027782
Gene Name karyopherin subunit alpha 4
Synonyms 1110058D08Rik, importin alpha 3, IPOA3
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5955 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 68979554-69034425 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 68997134 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 351 (V351A)
Ref Sequence ENSEMBL: ENSMUSP00000029353 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029353] [ENSMUST00000127497] [ENSMUST00000194558]
AlphaFold O35343
Predicted Effect probably benign
Transcript: ENSMUST00000029353
AA Change: V351A

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000029353
Gene: ENSMUSG00000027782
AA Change: V351A

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: ENSMUST00000158792
Predicted Effect probably benign
Transcript: ENSMUST00000194558
AA Change: V249A

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000141227
Gene: ENSMUSG00000027782
AA Change: V249A

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
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 93.7%
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc2 A T 19: 43,801,629 (GRCm39) D632V probably damaging Het
Acbd6 C T 1: 155,463,205 (GRCm39) A135V probably benign Het
Adam26a A T 8: 44,022,889 (GRCm39) F200L probably benign Het
Ago3 A T 4: 126,248,843 (GRCm39) N569K probably damaging Het
Ak9 A T 10: 41,234,560 (GRCm39) L640F probably damaging Het
Ampd2 A G 3: 107,987,088 (GRCm39) V178A probably damaging Het
Anapc4 C G 5: 53,023,288 (GRCm39) H710D probably benign Het
Atad2 T C 15: 57,969,055 (GRCm39) I495V probably benign Het
Bhmt2 T C 13: 93,799,705 (GRCm39) T244A probably benign Het
Capg T C 6: 72,532,483 (GRCm39) V16A probably benign Het
Capn13 A G 17: 73,637,997 (GRCm39) F469L possibly damaging Het
Ccdc149 C T 5: 52,533,877 (GRCm39) V430I probably benign Het
Cma1 A C 14: 56,181,226 (GRCm39) Y47D probably benign Het
Col6a3 A T 1: 90,739,163 (GRCm39) L355Q probably damaging Het
Cripto C A 9: 110,773,281 (GRCm39) R18L unknown Het
Crocc G T 4: 140,745,229 (GRCm39) T1796K possibly damaging Het
Cyp2c50 A T 19: 40,079,387 (GRCm39) probably null Het
Dsp T C 13: 38,378,934 (GRCm39) I1294T possibly damaging Het
Erbin A T 13: 103,966,700 (GRCm39) F1250Y probably benign Het
Fbn1 A C 2: 125,200,802 (GRCm39) C1298W probably damaging Het
Fbn2 A C 18: 58,177,328 (GRCm39) F1990V probably damaging Het
Fez2 A T 17: 78,694,472 (GRCm39) V306D probably damaging Het
Gigyf1 G A 5: 137,521,769 (GRCm39) probably null Het
Gjb4 A T 4: 127,245,745 (GRCm39) Y65* probably null Het
Gm26661 G A 14: 7,791,776 (GRCm38) A64T unknown Het
Igkv1-135 T C 6: 67,587,263 (GRCm39) S45P possibly damaging Het
Il27 T C 7: 126,194,070 (GRCm39) T5A probably benign Het
Il27ra T C 8: 84,767,451 (GRCm39) D124G probably benign Het
Itgad A G 7: 127,788,653 (GRCm39) H424R probably benign Het
Itgal T C 7: 126,904,161 (GRCm39) V258A possibly damaging Het
Lama5 T C 2: 179,839,267 (GRCm39) Q747R probably damaging Het
Map4k5 A G 12: 69,891,164 (GRCm39) F168L probably damaging Het
Mecom A G 3: 30,015,195 (GRCm39) Y843H probably damaging Het
Mical3 T C 6: 121,010,711 (GRCm39) M424V probably damaging Het
Mtrfr G T 5: 124,478,837 (GRCm39) E153* probably null Het
Myb A G 10: 21,028,398 (GRCm39) I155T probably damaging Het
Nbea A T 3: 55,588,404 (GRCm39) V2445E probably benign Het
Nlrp1b A T 11: 71,108,691 (GRCm39) I270N probably damaging Het
Nlrp4f A T 13: 65,342,895 (GRCm39) M250K probably benign Het
Or13c7 T A 4: 43,854,898 (GRCm39) N196K probably damaging Het
Or1e16 AGCGGTCGTAGGC AGC 11: 73,286,480 (GRCm39) probably null Het
Or52w1 C T 7: 105,017,776 (GRCm39) A72V probably damaging Het
P4ha1 A G 10: 59,178,618 (GRCm39) S96G probably benign Het
Pcnt G T 10: 76,247,456 (GRCm39) N1025K possibly damaging Het
Pgap4 T C 4: 49,586,613 (GRCm39) E185G probably damaging Het
Phactr4 A G 4: 132,114,220 (GRCm39) F58S probably damaging Het
Phlpp1 T A 1: 106,291,960 (GRCm39) probably null Het
Rab40c A C 17: 26,103,631 (GRCm39) V144G probably damaging Het
Rnasel A G 1: 153,630,146 (GRCm39) I221V probably benign Het
Rps6kb1 T C 11: 86,404,431 (GRCm39) K241E probably damaging Het
Rrbp1 C G 2: 143,791,597 (GRCm39) E1370Q probably benign Het
Rttn T C 18: 89,139,133 (GRCm39) Y2111H probably damaging Het
Samd8 A G 14: 21,843,152 (GRCm39) H364R probably damaging Het
Scnm1 T C 3: 95,037,596 (GRCm39) I157V probably benign Het
Setdb1 A G 3: 95,246,153 (GRCm39) Y590H probably damaging Het
Shkbp1 T C 7: 27,041,949 (GRCm39) N635S probably benign Het
Trpm6 A G 19: 18,869,383 (GRCm39) D1990G possibly damaging Het
Usp48 A G 4: 137,343,129 (GRCm39) N426S probably benign Het
Vmn2r16 G A 5: 109,511,613 (GRCm39) V607M possibly damaging Het
Xdh A T 17: 74,205,315 (GRCm39) V1050D probably damaging Het
Zfp110 C T 7: 12,582,672 (GRCm39) T440I possibly damaging 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
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'- GTTTGACTCCTCACTGAAGCTAC -3'
(R):5'- AGAAATGTTACCTGGGTTATGGTC -3'

Sequencing Primer
(F):5'- CTCACTGAAGCTACAGAAACAGAGG -3'
(R):5'- GGTCAATTTATGTCGCCACAAAGAC -3'
Posted On 2017-03-31