Incidental Mutation 'R3952:Kpna1'
ID 308012
Institutional Source Beutler Lab
Gene Symbol Kpna1
Ensembl Gene ENSMUSG00000022905
Gene Name karyopherin subunit alpha 1
Synonyms NPI1, importin alpha 5, mSRP1, m-importin-alpha-S1, Rch2
MMRRC Submission 040829-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.477) question?
Stock # R3952 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 35803693-35859479 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35823252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 35 (T35S)
Ref Sequence ENSEMBL: ENSMUSP00000133852 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004054] [ENSMUST00000173555] [ENSMUST00000173696] [ENSMUST00000174500] [ENSMUST00000174737]
AlphaFold Q60960
Predicted Effect probably benign
Transcript: ENSMUST00000004054
AA Change: T57S

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000004054
Gene: ENSMUSG00000022905
AA Change: T57S

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 noncoding transcript
Transcript: ENSMUST00000172991
Predicted Effect probably benign
Transcript: ENSMUST00000173555
AA Change: T57S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133318
Gene: ENSMUSG00000022905
AA Change: T57S

DomainStartEndE-ValueType
Pfam:IBB 2 96 1.9e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173696
AA Change: T57S

PolyPhen 2 Score 0.126 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000134534
Gene: ENSMUSG00000022905
AA Change: T57S

DomainStartEndE-ValueType
Pfam:IBB 2 105 9.3e-31 PFAM
Blast:ARM 114 149 1e-14 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173715
Predicted Effect probably benign
Transcript: ENSMUST00000174500
AA Change: T57S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000133819
Gene: ENSMUSG00000022905
AA Change: T57S

DomainStartEndE-ValueType
Pfam:IBB 2 96 2.8e-31 PFAM
Blast:ARM 114 145 6e-14 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000174737
AA Change: T35S

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000133852
Gene: ENSMUSG00000022905
AA Change: T35S

DomainStartEndE-ValueType
Pfam:IBB 1 83 1.3e-22 PFAM
Meta Mutation Damage Score 0.0846 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 98% (46/47)
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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,451,158 (GRCm39) probably benign Het
4932414N04Rik T C 2: 68,494,747 (GRCm39) probably null Het
Abi3bp C T 16: 56,424,401 (GRCm39) T450I possibly damaging Het
Abl1 A T 2: 31,674,549 (GRCm39) T213S probably damaging Het
Apc2 C T 10: 80,150,318 (GRCm39) R1762W probably damaging Het
Arl2 G T 19: 6,184,707 (GRCm39) T182N probably benign Het
Brd8 C G 18: 34,747,497 (GRCm39) probably benign Het
Cdh23 T C 10: 60,493,105 (GRCm39) Y3C probably benign Het
Clca3a2 A G 3: 144,508,822 (GRCm39) Y666H probably damaging Het
Cmya5 A G 13: 93,225,707 (GRCm39) V3127A possibly damaging Het
Copg1 G A 6: 87,882,198 (GRCm39) A598T probably benign Het
Dera A G 6: 137,814,118 (GRCm39) Y100C probably damaging Het
Epha1 C A 6: 42,341,219 (GRCm39) L535F probably damaging Het
Epha4 A T 1: 77,376,353 (GRCm39) Y509N probably damaging Het
Fads2b T C 2: 85,330,548 (GRCm39) probably benign Het
Ggcx G A 6: 72,403,541 (GRCm39) G363R probably benign Het
Hjurp G C 1: 88,204,937 (GRCm39) probably benign Het
Map3k20 T G 2: 72,268,644 (GRCm39) I550M probably damaging Het
Mgat4a A G 1: 37,489,495 (GRCm39) probably benign Het
Mrpl48 T A 7: 100,209,130 (GRCm39) probably benign Het
Ncapd2 T C 6: 125,163,747 (GRCm39) K78E probably damaging Het
Ndst1 T C 18: 60,830,211 (GRCm39) N633S probably benign Het
Or10a3n C A 7: 108,493,189 (GRCm39) V142L probably benign Het
Or5w10 T C 2: 87,375,409 (GRCm39) T160A probably damaging Het
Or6c69 A G 10: 129,747,505 (GRCm39) I214T probably benign Het
Pacs2 T C 12: 113,024,733 (GRCm39) S408P probably damaging Het
Pcx C T 19: 4,667,995 (GRCm39) H506Y probably benign Het
Pla2g6 G T 15: 79,197,296 (GRCm39) P93T probably damaging Het
Pramel28 C T 4: 143,692,356 (GRCm39) W215* probably null Het
Prb1b G A 6: 132,289,657 (GRCm39) P56S unknown Het
Rcor1 A G 12: 111,006,169 (GRCm39) probably benign Het
Rtn4ip1 T A 10: 43,785,893 (GRCm39) probably null Het
Sytl2 T A 7: 90,030,700 (GRCm39) probably benign Het
Tia1 T C 6: 86,393,319 (GRCm39) F53S probably damaging Het
Ticrr T C 7: 79,331,817 (GRCm39) L776S probably damaging Het
Tmod1 A G 4: 46,078,315 (GRCm39) N41S probably damaging Het
Ttn T C 2: 76,583,139 (GRCm39) I22585V possibly damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ugt1a10 C A 1: 88,143,862 (GRCm39) H361N probably damaging Het
Vmn1r118 G T 7: 20,645,933 (GRCm39) Q114K probably damaging Het
Vps39 C T 2: 120,180,656 (GRCm39) R43Q probably benign Het
Vwa5b2 T C 16: 20,417,111 (GRCm39) *603Q probably null Het
Zeb1 G A 18: 5,772,716 (GRCm39) A1002T probably benign Het
Zxdc A G 6: 90,347,449 (GRCm39) probably null Het
Other mutations in Kpna1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01111:Kpna1 APN 16 35,833,259 (GRCm39) intron probably benign
IGL01653:Kpna1 APN 16 35,840,562 (GRCm39) missense probably benign
IGL02412:Kpna1 APN 16 35,851,561 (GRCm39) missense probably benign 0.06
IGL03102:Kpna1 APN 16 35,833,289 (GRCm39) missense probably damaging 1.00
IGL03340:Kpna1 APN 16 35,820,616 (GRCm39) missense probably damaging 1.00
R0040:Kpna1 UTSW 16 35,843,611 (GRCm39) missense probably damaging 0.97
R0456:Kpna1 UTSW 16 35,823,270 (GRCm39) missense possibly damaging 0.94
R0457:Kpna1 UTSW 16 35,823,275 (GRCm39) missense probably benign 0.03
R1146:Kpna1 UTSW 16 35,853,749 (GRCm39) nonsense probably null
R1146:Kpna1 UTSW 16 35,853,749 (GRCm39) nonsense probably null
R1347:Kpna1 UTSW 16 35,829,696 (GRCm39) missense probably benign 0.44
R1347:Kpna1 UTSW 16 35,829,696 (GRCm39) missense probably benign 0.44
R2225:Kpna1 UTSW 16 35,851,591 (GRCm39) missense probably damaging 0.99
R2226:Kpna1 UTSW 16 35,851,591 (GRCm39) missense probably damaging 0.99
R2227:Kpna1 UTSW 16 35,851,591 (GRCm39) missense probably damaging 0.99
R2251:Kpna1 UTSW 16 35,841,939 (GRCm39) missense possibly damaging 0.93
R2252:Kpna1 UTSW 16 35,841,939 (GRCm39) missense possibly damaging 0.93
R2271:Kpna1 UTSW 16 35,851,591 (GRCm39) missense probably damaging 0.99
R4771:Kpna1 UTSW 16 35,853,773 (GRCm39) missense probably damaging 1.00
R4954:Kpna1 UTSW 16 35,853,696 (GRCm39) missense probably damaging 1.00
R5075:Kpna1 UTSW 16 35,829,722 (GRCm39) missense probably damaging 1.00
R5824:Kpna1 UTSW 16 35,840,575 (GRCm39) missense possibly damaging 0.91
R5873:Kpna1 UTSW 16 35,834,598 (GRCm39) intron probably benign
R6221:Kpna1 UTSW 16 35,841,058 (GRCm39) missense probably benign 0.02
R6603:Kpna1 UTSW 16 35,849,890 (GRCm39) critical splice acceptor site probably null
R7168:Kpna1 UTSW 16 35,836,332 (GRCm39) intron probably benign
R7447:Kpna1 UTSW 16 35,850,009 (GRCm39) missense probably damaging 1.00
R7872:Kpna1 UTSW 16 35,843,565 (GRCm39) missense probably benign 0.00
R7897:Kpna1 UTSW 16 35,854,235 (GRCm39) missense probably benign 0.00
R9069:Kpna1 UTSW 16 35,836,381 (GRCm39) intron probably benign
R9124:Kpna1 UTSW 16 35,853,644 (GRCm39) missense probably benign 0.06
R9233:Kpna1 UTSW 16 35,853,793 (GRCm39) missense probably damaging 0.99
R9365:Kpna1 UTSW 16 35,833,287 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCTCTTGGGTACTGGCATAGATAG -3'
(R):5'- ATGAGATGTTTCAACACACGTG -3'

Sequencing Primer
(F):5'- GTACTGGCATAGATAGTGTGGTAG -3'
(R):5'- TGTGATTACAGACAGACATCACG -3'
Posted On 2015-04-17