Incidental Mutation 'IGL01088:Kpna6'
ID 50878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kpna6
Ensembl Gene ENSMUSG00000003731
Gene Name karyopherin subunit alpha 6
Synonyms NPI-2, IPOA7, importin alpha 7
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01088
Quality Score
Status
Chromosome 4
Chromosomal Location 129537773-129566560 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 129549276 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Isoleucine at position 169 (V169I)
Ref Sequence ENSEMBL: ENSMUSP00000099650 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003828] [ENSMUST00000102590] [ENSMUST00000126010]
AlphaFold O35345
Predicted Effect probably damaging
Transcript: ENSMUST00000003828
AA Change: V166I

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000003828
Gene: ENSMUSG00000003731
AA Change: V166I

DomainStartEndE-ValueType
Pfam:IBB 2 100 9.5e-28 PFAM
ARM 109 151 2.46e-4 SMART
ARM 153 193 6.73e-11 SMART
ARM 195 236 3.19e-3 SMART
ARM 239 278 6.64e-1 SMART
ARM 280 320 1.16e-5 SMART
ARM 322 362 1.98e-8 SMART
ARM 364 404 6.68e-6 SMART
ARM 407 447 1.89e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000102590
AA Change: V169I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000099650
Gene: ENSMUSG00000003731
AA Change: V169I

DomainStartEndE-ValueType
Pfam:IBB 9 102 4.4e-27 PFAM
ARM 112 154 2.46e-4 SMART
ARM 156 196 6.73e-11 SMART
ARM 198 239 3.19e-3 SMART
ARM 242 281 6.64e-1 SMART
ARM 283 323 1.16e-5 SMART
ARM 325 365 1.98e-8 SMART
ARM 367 407 6.68e-6 SMART
ARM 410 450 1.89e-5 SMART
Pfam:Arm_3 464 514 5.3e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000126010
SMART Domains Protein: ENSMUSP00000114265
Gene: ENSMUSG00000003731

DomainStartEndE-ValueType
Pfam:IBB 2 88 3.5e-28 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138916
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146215
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Nucleocytoplasmic transport, a signal- and energy-dependent process, takes place through nuclear pore complexes embedded in the nuclear envelope. The import of proteins containing a nuclear localization signal (NLS) requires the NLS import receptor, a heterodimer of importin alpha and beta subunits also known as karyopherins. Importin alpha binds the NLS-containing cargo in the cytoplasm and importin beta docks the complex at the cytoplasmic side of the nuclear pore complex. In the presence of nucleoside triphosphates and the small GTP binding protein Ran, the complex moves into the nuclear pore complex and the importin subunits dissociate. Importin alpha enters the nucleoplasm with its passenger protein and importin beta remains at the pore. The protein encoded by this gene is a member of the importin alpha family. [provided by RefSeq, Jul 2008]
PHENOTYPE: Female mice homozygous for a null mutation are infertile and show a block in zygotic genome activation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr6 C T 10: 89,561,703 (GRCm39) V148I probably damaging Het
Aspn G T 13: 49,720,029 (GRCm39) K348N probably benign Het
C1qtnf9 T C 14: 61,017,205 (GRCm39) V245A probably benign Het
Cfhr4 T C 1: 139,625,823 (GRCm39) probably benign Het
Chd4 T C 6: 125,099,431 (GRCm39) probably benign Het
Clcn3 A T 8: 61,390,381 (GRCm39) C187S probably damaging Het
Dcxr T C 11: 120,616,993 (GRCm39) I123M possibly damaging Het
Fstl1 T C 16: 37,647,175 (GRCm39) Y182H probably damaging Het
Ghrhr T C 6: 55,356,178 (GRCm39) probably null Het
Gpr179 T C 11: 97,228,627 (GRCm39) E1176G probably damaging Het
H2-T22 A G 17: 36,352,811 (GRCm39) S99P probably damaging Het
Igkv4-79 T A 6: 69,020,110 (GRCm39) K68N probably damaging Het
Krit1 G T 5: 3,862,844 (GRCm39) V278F probably damaging Het
Mrpl4 T C 9: 20,914,627 (GRCm39) S68P probably damaging Het
Mylk3 A C 8: 86,078,586 (GRCm39) probably null Het
Nfasc A T 1: 132,570,514 (GRCm39) probably benign Het
Ntsr1 T C 2: 180,184,335 (GRCm39) F346S probably damaging Het
Or10ak11 A G 4: 118,686,989 (GRCm39) V216A probably benign Het
Or5b107 T C 19: 13,142,735 (GRCm39) M119T probably damaging Het
Phox2a T C 7: 101,470,942 (GRCm39) F145L probably damaging Het
Rbm7 A G 9: 48,402,149 (GRCm39) V146A probably damaging Het
Sall3 A T 18: 81,016,447 (GRCm39) Y494N probably damaging Het
Ssbp1 T A 6: 40,455,004 (GRCm39) probably benign Het
Stard7 T C 2: 127,112,746 (GRCm39) L4P probably damaging Het
Stk-ps2 A T 1: 46,069,010 (GRCm39) noncoding transcript Het
Tmem67 G A 4: 12,063,126 (GRCm39) R507C probably damaging Het
Unc13c A T 9: 73,839,563 (GRCm39) D429E possibly damaging Het
Unc93b1 A G 19: 3,985,356 (GRCm39) probably null Het
Vmn1r171 T C 7: 23,332,252 (GRCm39) V159A probably damaging Het
Zfp608 T C 18: 55,031,159 (GRCm39) E927G probably benign Het
Zfp820 T A 17: 22,040,162 (GRCm39) K16* probably null Het
Zgrf1 T C 3: 127,381,790 (GRCm39) probably benign Het
Other mutations in Kpna6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02750:Kpna6 APN 4 129,555,170 (GRCm39) missense probably damaging 1.00
IGL02904:Kpna6 APN 4 129,544,480 (GRCm39) missense probably benign 0.24
IGL02998:Kpna6 APN 4 129,549,297 (GRCm39) missense probably benign 0.00
IGL03370:Kpna6 APN 4 129,549,314 (GRCm39) missense probably damaging 1.00
krazy_eight UTSW 4 129,549,221 (GRCm39) critical splice donor site probably null
magnificent_seven UTSW 4 129,543,099 (GRCm39) nonsense probably null
R0054:Kpna6 UTSW 4 129,551,251 (GRCm39) missense probably benign 0.01
R0054:Kpna6 UTSW 4 129,551,251 (GRCm39) missense probably benign 0.01
R0305:Kpna6 UTSW 4 129,543,042 (GRCm39) missense probably benign 0.00
R0390:Kpna6 UTSW 4 129,551,597 (GRCm39) missense possibly damaging 0.61
R0623:Kpna6 UTSW 4 129,549,209 (GRCm39) unclassified probably benign
R0646:Kpna6 UTSW 4 129,544,583 (GRCm39) missense probably benign 0.43
R1067:Kpna6 UTSW 4 129,541,896 (GRCm39) missense probably benign 0.39
R1348:Kpna6 UTSW 4 129,555,152 (GRCm39) nonsense probably null
R1661:Kpna6 UTSW 4 129,551,264 (GRCm39) missense probably benign 0.10
R1665:Kpna6 UTSW 4 129,551,264 (GRCm39) missense probably benign 0.10
R1766:Kpna6 UTSW 4 129,551,235 (GRCm39) missense probably benign 0.33
R4833:Kpna6 UTSW 4 129,551,572 (GRCm39) missense possibly damaging 0.51
R4941:Kpna6 UTSW 4 129,541,825 (GRCm39) missense probably damaging 1.00
R4974:Kpna6 UTSW 4 129,550,198 (GRCm39) splice site probably null
R5244:Kpna6 UTSW 4 129,549,221 (GRCm39) critical splice donor site probably null
R5914:Kpna6 UTSW 4 129,566,485 (GRCm39) unclassified probably benign
R6148:Kpna6 UTSW 4 129,543,099 (GRCm39) nonsense probably null
R6713:Kpna6 UTSW 4 129,547,777 (GRCm39) missense probably damaging 1.00
R6799:Kpna6 UTSW 4 129,551,247 (GRCm39) missense probably damaging 0.99
R6942:Kpna6 UTSW 4 129,545,514 (GRCm39) splice site probably null
R7073:Kpna6 UTSW 4 129,548,139 (GRCm39) missense probably damaging 1.00
R7794:Kpna6 UTSW 4 129,541,844 (GRCm39) missense probably benign
R7815:Kpna6 UTSW 4 129,551,590 (GRCm39) missense probably benign
R8290:Kpna6 UTSW 4 129,555,097 (GRCm39) critical splice donor site probably null
R9360:Kpna6 UTSW 4 129,547,635 (GRCm39) missense probably benign 0.00
Z1176:Kpna6 UTSW 4 129,549,341 (GRCm39) missense probably damaging 1.00
Z1176:Kpna6 UTSW 4 129,541,871 (GRCm39) missense possibly damaging 0.92
Posted On 2013-06-21