Incidental Mutation 'IGL01653:Kpna1'
ID 102880
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kpna1
Ensembl Gene ENSMUSG00000022905
Gene Name karyopherin (importin) alpha 1
Synonyms m-importin-alpha-S1, Rch2, NPI1, mSRP1
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.516) question?
Stock # IGL01653
Quality Score
Status
Chromosome 16
Chromosomal Location 35978750-36037131 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36020192 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 201 (T201A)
Ref Sequence ENSEMBL: ENSMUSP00000004054 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004054] [ENSMUST00000172534] [ENSMUST00000173696] [ENSMUST00000174500] [ENSMUST00000174737]
AlphaFold Q60960
Predicted Effect probably benign
Transcript: ENSMUST00000004054
AA Change: T201A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000004054
Gene: ENSMUSG00000022905
AA Change: T201A

DomainStartEndE-ValueType
Pfam:IBB 6 104 1.3e-27 PFAM
ARM 115 156 1.47e-2 SMART
ARM 158 198 2.51e-10 SMART
ARM 200 241 7.16e-6 SMART
ARM 244 283 2.22e1 SMART
ARM 285 325 1.45e-6 SMART
ARM 327 367 1.12e-7 SMART
ARM 369 409 1.76e-5 SMART
ARM 412 452 2.91e-6 SMART
Pfam:Arm_3 466 516 6e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000172534
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173469
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173641
SMART Domains Protein: ENSMUSP00000133664
Gene: ENSMUSG00000022905

DomainStartEndE-ValueType
ARM 16 57 7.16e-6 SMART
ARM 60 99 2.22e1 SMART
ARM 117 157 6.39e-3 SMART
Pfam:Arm_3 171 221 1.9e-26 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173696
SMART Domains Protein: ENSMUSP00000134534
Gene: ENSMUSG00000022905

DomainStartEndE-ValueType
Pfam:IBB 2 105 9.3e-31 PFAM
Blast:ARM 114 149 1e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174500
SMART Domains Protein: ENSMUSP00000133819
Gene: ENSMUSG00000022905

DomainStartEndE-ValueType
Pfam:IBB 2 96 2.8e-31 PFAM
Blast:ARM 114 145 6e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174737
SMART Domains Protein: ENSMUSP00000133852
Gene: ENSMUSG00000022905

DomainStartEndE-ValueType
Pfam:IBB 1 83 1.3e-22 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import. This protein interacts with the recombination activating gene 1 (RAG1) protein and is a putative substrate of the RAG1 ubiquitin ligase. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a gene trap allele do not display any nervous system or behavioral abnormalities. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933421I07Rik T C 7: 42,446,974 D119G probably damaging Het
5430403G16Rik A C 5: 109,677,316 Y89* probably null Het
Apol7c A G 15: 77,526,300 C149R probably damaging Het
Arfgef1 G A 1: 10,159,908 R1235* probably null Het
Bpifb4 A G 2: 153,944,783 D285G probably damaging Het
Cep192 T A 18: 67,852,972 H1682Q possibly damaging Het
Cerk G T 15: 86,149,351 Y290* probably null Het
Cyld A T 8: 88,741,370 I544F probably damaging Het
Dcp1a T C 14: 30,505,571 S134P possibly damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ephb4 A G 5: 137,365,741 probably benign Het
Fcgr3 A T 1: 171,059,280 L25Q probably damaging Het
Heatr3 A G 8: 88,144,617 I83V probably benign Het
Hormad1 T A 3: 95,578,297 N265K possibly damaging Het
Krt6b T A 15: 101,679,114 T182S probably damaging Het
Macc1 A G 12: 119,450,353 K755E probably damaging Het
Med12l C T 3: 59,261,893 T1568M probably damaging Het
Muc4 G T 16: 32,761,348 probably null Het
Myt1l T C 12: 29,910,771 S1028P unknown Het
Nhlrc2 C T 19: 56,570,850 R256C probably benign Het
Olfr1230 T A 2: 89,297,127 T48S probably benign Het
Olfr1441 G A 19: 12,422,372 R21H probably benign Het
Pfkfb4 G A 9: 108,999,134 R79H probably damaging Het
Piezo2 T C 18: 63,182,833 probably benign Het
Pramel5 C T 4: 144,273,859 R49H probably benign Het
Ralgapb T A 2: 158,462,159 S613T possibly damaging Het
Ryr1 T C 7: 29,078,597 E2158G probably damaging Het
Scgb2b19 T A 7: 33,279,728 Y43F probably damaging Het
Slc17a6 A G 7: 51,668,022 T468A possibly damaging Het
Slc36a1 A G 11: 55,228,321 D374G possibly damaging Het
Wdtc1 T C 4: 133,295,232 D601G probably damaging Het
Other mutations in Kpna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Kpna1 APN 16 36012889 intron probably benign
IGL02412:Kpna1 APN 16 36031191 missense probably benign 0.06
IGL03102:Kpna1 APN 16 36012919 missense probably damaging 1.00
IGL03340:Kpna1 APN 16 36000246 missense probably damaging 1.00
R0040:Kpna1 UTSW 16 36023241 missense probably damaging 0.97
R0456:Kpna1 UTSW 16 36002900 missense possibly damaging 0.94
R0457:Kpna1 UTSW 16 36002905 missense probably benign 0.03
R1146:Kpna1 UTSW 16 36033379 nonsense probably null
R1146:Kpna1 UTSW 16 36033379 nonsense probably null
R1347:Kpna1 UTSW 16 36009326 missense probably benign 0.44
R1347:Kpna1 UTSW 16 36009326 missense probably benign 0.44
R2225:Kpna1 UTSW 16 36031221 missense probably damaging 0.99
R2226:Kpna1 UTSW 16 36031221 missense probably damaging 0.99
R2227:Kpna1 UTSW 16 36031221 missense probably damaging 0.99
R2251:Kpna1 UTSW 16 36021569 missense possibly damaging 0.93
R2252:Kpna1 UTSW 16 36021569 missense possibly damaging 0.93
R2271:Kpna1 UTSW 16 36031221 missense probably damaging 0.99
R3952:Kpna1 UTSW 16 36002882 missense probably benign 0.13
R4771:Kpna1 UTSW 16 36033403 missense probably damaging 1.00
R4954:Kpna1 UTSW 16 36033326 missense probably damaging 1.00
R5075:Kpna1 UTSW 16 36009352 missense probably damaging 1.00
R5824:Kpna1 UTSW 16 36020205 missense possibly damaging 0.91
R5873:Kpna1 UTSW 16 36014228 intron probably benign
R6221:Kpna1 UTSW 16 36020688 missense probably benign 0.02
R6603:Kpna1 UTSW 16 36029520 critical splice acceptor site probably null
R7168:Kpna1 UTSW 16 36015962 intron probably benign
R7447:Kpna1 UTSW 16 36029639 missense probably damaging 1.00
R7872:Kpna1 UTSW 16 36023195 missense probably benign 0.00
R7897:Kpna1 UTSW 16 36033865 missense probably benign 0.00
R9124:Kpna1 UTSW 16 36033274 missense probably benign 0.06
R9233:Kpna1 UTSW 16 36033423 missense probably damaging 0.99
R9365:Kpna1 UTSW 16 36012917 missense probably damaging 1.00
Posted On 2014-01-21