Incidental Mutation 'R0919:Kpna4'
ID 81574
Institutional Source Beutler Lab
Gene Symbol Kpna4
Ensembl Gene ENSMUSG00000027782
Gene Name karyopherin subunit alpha 4
Synonyms 1110058D08Rik, importin alpha 3, IPOA3
MMRRC Submission 039069-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0919 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 68979554-69034425 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to T at 68993161 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000141227 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029353] [ENSMUST00000194558]
AlphaFold O35343
Predicted Effect probably benign
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 noncoding transcript
Transcript: ENSMUST00000158792
Predicted Effect probably benign
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
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.5%
  • 20x: 95.6%
Validation Efficiency 96% (43/45)
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alpk2 C A 18: 65,440,544 (GRCm39) C283F probably benign Het
Anapc1 T C 2: 128,459,651 (GRCm39) R1803G probably benign Het
Anapc4 T C 5: 53,012,979 (GRCm39) V423A probably benign Het
Arfgef3 A G 10: 18,465,483 (GRCm39) I2120T possibly damaging Het
Btaf1 T A 19: 36,968,143 (GRCm39) H1109Q probably benign Het
Cfap418 A G 4: 10,882,462 (GRCm39) T124A probably benign Het
Cfap70 G A 14: 20,454,232 (GRCm39) P851S probably benign Het
Clcf1 T A 19: 4,272,252 (GRCm39) L103Q probably damaging Het
Col11a2 T A 17: 34,278,124 (GRCm39) V1032E possibly damaging Het
Cyp2c38 T G 19: 39,393,113 (GRCm39) D318A probably benign Het
Dbpht2 A G 12: 74,345,774 (GRCm39) noncoding transcript Het
Dhx34 A C 7: 15,935,883 (GRCm39) V893G probably damaging Het
Fsip2 T A 2: 82,815,828 (GRCm39) C3854S possibly damaging Het
Htr1a T C 13: 105,581,344 (GRCm39) Y195H probably damaging Het
Insr A G 8: 3,208,769 (GRCm39) S1231P probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Or52d13 A G 7: 103,110,019 (GRCm39) I132T probably damaging Het
Or52e8 A T 7: 104,624,519 (GRCm39) Y228* probably null Het
Or5m3 A G 2: 85,838,984 (GRCm39) Y288C possibly damaging Het
Osbpl7 G A 11: 96,946,927 (GRCm39) R239H possibly damaging Het
Prkce G A 17: 86,937,588 (GRCm39) V674I probably benign Het
Prkrip1 T C 5: 136,226,685 (GRCm39) M52V possibly damaging Het
Sash1 A G 10: 8,605,843 (GRCm39) M849T probably benign Het
Scaf8 T C 17: 3,247,395 (GRCm39) L906S probably damaging Het
Sfmbt2 T C 2: 10,582,382 (GRCm39) L676P probably benign Het
Sgsm1 C T 5: 113,406,708 (GRCm39) V923I probably damaging Het
Slc38a3 A T 9: 107,533,158 (GRCm39) L305Q probably damaging Het
Slc44a5 A G 3: 153,949,223 (GRCm39) Y232C probably damaging Het
Spag17 A T 3: 99,979,259 (GRCm39) probably benign Het
Synm T C 7: 67,385,095 (GRCm39) I414V probably damaging Het
Tbc1d12 C T 19: 38,902,493 (GRCm39) H551Y possibly damaging Het
Timm21 G C 18: 84,967,387 (GRCm39) L130V probably damaging Het
Trpc7 C T 13: 56,970,462 (GRCm39) probably benign Het
Trpm7 G A 2: 126,673,158 (GRCm39) R532C probably damaging Het
Ttn T A 2: 76,777,086 (GRCm39) K1485* probably null Het
Txn2 T C 15: 77,811,949 (GRCm39) D69G probably damaging Het
U2af2 C T 7: 5,072,433 (GRCm39) probably benign Het
Ubn1 T C 16: 4,882,255 (GRCm39) Y239H probably damaging Het
Ubtf A G 11: 102,200,603 (GRCm39) probably benign Het
Usp49 T A 17: 47,983,376 (GRCm39) V127D probably benign Het
Washc2 C T 6: 116,185,225 (GRCm39) R20W probably damaging Het
Zscan10 T C 17: 23,828,981 (GRCm39) S476P probably 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
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'- AACAGCCTCAGATGCACTCCAATATC -3'
(R):5'- ACCCTTTTATTGATGCCAGTTCTGTTGA -3'

Sequencing Primer
(F):5'- tgcttagtatgccaaaggctc -3'
(R):5'- GCCAGTTCTGTTGAAATAACTTAAGC -3'
Posted On 2013-11-07