Incidental Mutation 'IGL02589:Ipo8'
ID 299664
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipo8
Ensembl Gene ENSMUSG00000040029
Gene Name importin 8
Synonyms C130009K11Rik, Om1, Ranbp8, OM-1, 6230418K12Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02589
Quality Score
Status
Chromosome 6
Chromosomal Location 148672181-148732965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 148711405 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 294 (L294F)
Ref Sequence ENSEMBL: ENSMUSP00000046759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048418] [ENSMUST00000145960] [ENSMUST00000204936]
AlphaFold Q7TMY7
Predicted Effect probably damaging
Transcript: ENSMUST00000048418
AA Change: L294F

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: L294F

DomainStartEndE-ValueType
IBN_N 22 102 1.59e-13 SMART
Pfam:Cse1 166 470 6.6e-11 PFAM
low complexity region 895 908 N/A INTRINSIC
low complexity region 924 938 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145743
Predicted Effect possibly damaging
Transcript: ENSMUST00000145960
AA Change: L294F

PolyPhen 2 Score 0.614 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000117365
Gene: ENSMUSG00000040029
AA Change: L294F

DomainStartEndE-ValueType
IBN_N 22 102 1.59e-13 SMART
low complexity region 176 190 N/A INTRINSIC
low complexity region 346 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000204936
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The importin-alpha/beta complex and the GTPase Ran mediate nuclear import of proteins with a classical nuclear localization signal. The protein encoded by this gene is a member of a class of approximately 20 potential Ran targets that share a sequence motif related to the Ran-binding site of importin-beta. This protein binds to the nuclear pore complex and, along with RanGTP and RANBP1, inhibits the GAP stimulation of the Ran GTPase. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2010]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 T G 6: 128,558,463 (GRCm39) I5L probably benign Het
Ang6 A G 14: 44,239,419 (GRCm39) I103T possibly damaging Het
Arhgdib A G 6: 136,910,576 (GRCm39) probably benign Het
Atp13a2 C T 4: 140,733,722 (GRCm39) T1037M probably damaging Het
Bptf T C 11: 107,002,357 (GRCm39) N252D possibly damaging Het
Capn2 T C 1: 182,311,913 (GRCm39) Y387C probably damaging Het
Cdc27 T G 11: 104,396,470 (GRCm39) D817A probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cntnap3 T G 13: 64,940,244 (GRCm39) I318L probably benign Het
Cog6 A T 3: 52,914,691 (GRCm39) L255Q probably damaging Het
Ect2l T A 10: 18,016,342 (GRCm39) probably benign Het
Ercc5 T C 1: 44,203,209 (GRCm39) V282A probably damaging Het
Fras1 A G 5: 96,917,372 (GRCm39) D3464G probably damaging Het
Gabrg1 A T 5: 70,999,495 (GRCm39) L18* probably null Het
Ggcx T C 6: 72,406,131 (GRCm39) Y586H probably damaging Het
Gm5796 A T 14: 15,379,030 (GRCm39) K24* probably null Het
Gnb4 C T 3: 32,643,998 (GRCm39) V187M probably damaging Het
Gpt2 C T 8: 86,242,795 (GRCm39) Q276* probably null Het
Idnk G T 13: 58,311,239 (GRCm39) probably benign Het
Igkv3-9 A G 6: 70,565,683 (GRCm39) D94G possibly damaging Het
Itgad A T 7: 127,780,883 (GRCm39) D157V probably damaging Het
Kcnab3 A T 11: 69,222,928 (GRCm39) I392L probably benign Het
Kdm3b A G 18: 34,945,471 (GRCm39) S761G possibly damaging Het
Kif21a G A 15: 90,869,489 (GRCm39) T454M probably damaging Het
Lta4h A G 10: 93,310,793 (GRCm39) N441S probably benign Het
Man2a1 A G 17: 64,986,773 (GRCm39) E595G probably benign Het
Micos13 T C 17: 56,915,856 (GRCm39) E66G probably benign Het
Mvd T C 8: 123,164,773 (GRCm39) probably benign Het
Notch2 A G 3: 98,011,663 (GRCm39) probably null Het
Phf20l1 G T 15: 66,487,481 (GRCm39) probably benign Het
Rdm1 A G 11: 101,518,831 (GRCm39) S13G possibly damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Scn4a G T 11: 106,218,958 (GRCm39) D953E probably benign Het
Sh2b1 A G 7: 126,068,440 (GRCm39) I457T probably benign Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Tagap C A 17: 8,152,504 (GRCm39) T563K possibly damaging Het
Ugt1a7c T C 1: 88,023,360 (GRCm39) I173T probably benign Het
Unc79 C T 12: 103,139,755 (GRCm39) A2370V probably damaging Het
Vmn2r102 T A 17: 19,901,480 (GRCm39) C536S probably damaging Het
Vmn2r53 G A 7: 12,315,872 (GRCm39) T649I possibly damaging Het
Whrn G A 4: 63,336,334 (GRCm39) Q301* probably null Het
Zfp1007 T A 5: 109,826,386 (GRCm39) H62L possibly damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably damaging Het
Other mutations in Ipo8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ipo8 APN 6 148,684,284 (GRCm39) missense possibly damaging 0.77
IGL01012:Ipo8 APN 6 148,690,561 (GRCm39) splice site probably benign
IGL01124:Ipo8 APN 6 148,678,874 (GRCm39) missense probably benign
IGL01978:Ipo8 APN 6 148,678,787 (GRCm39) missense probably benign 0.25
IGL02111:Ipo8 APN 6 148,701,278 (GRCm39) missense probably damaging 1.00
IGL02193:Ipo8 APN 6 148,678,782 (GRCm39) missense probably damaging 0.96
IGL02690:Ipo8 APN 6 148,678,861 (GRCm39) missense probably benign
IGL02724:Ipo8 APN 6 148,692,979 (GRCm39) nonsense probably null
IGL02935:Ipo8 APN 6 148,691,339 (GRCm39) missense probably benign 0.03
IGL03027:Ipo8 APN 6 148,678,737 (GRCm39) missense probably benign 0.01
IGL03065:Ipo8 APN 6 148,686,205 (GRCm39) missense probably benign 0.44
IGL03338:Ipo8 APN 6 148,701,755 (GRCm39) missense probably benign 0.01
important UTSW 6 148,717,995 (GRCm39) nonsense probably null
R0032:Ipo8 UTSW 6 148,712,209 (GRCm39) missense probably damaging 0.99
R0032:Ipo8 UTSW 6 148,712,209 (GRCm39) missense probably damaging 0.99
R0088:Ipo8 UTSW 6 148,703,434 (GRCm39) missense probably benign 0.27
R0373:Ipo8 UTSW 6 148,676,540 (GRCm39) missense probably benign 0.00
R0539:Ipo8 UTSW 6 148,719,606 (GRCm39) missense probably benign 0.00
R0565:Ipo8 UTSW 6 148,688,221 (GRCm39) missense probably damaging 1.00
R0660:Ipo8 UTSW 6 148,701,711 (GRCm39) missense probably benign 0.02
R0664:Ipo8 UTSW 6 148,701,711 (GRCm39) missense probably benign 0.02
R0791:Ipo8 UTSW 6 148,723,225 (GRCm39) missense possibly damaging 0.94
R0989:Ipo8 UTSW 6 148,698,180 (GRCm39) missense probably benign 0.38
R1416:Ipo8 UTSW 6 148,690,591 (GRCm39) missense probably benign
R1417:Ipo8 UTSW 6 148,719,550 (GRCm39) missense probably benign 0.02
R1590:Ipo8 UTSW 6 148,712,163 (GRCm39) splice site probably null
R1703:Ipo8 UTSW 6 148,691,390 (GRCm39) missense probably benign 0.00
R1709:Ipo8 UTSW 6 148,684,226 (GRCm39) missense probably benign
R2079:Ipo8 UTSW 6 148,690,660 (GRCm39) missense probably damaging 1.00
R2338:Ipo8 UTSW 6 148,691,321 (GRCm39) missense probably benign 0.00
R2359:Ipo8 UTSW 6 148,717,975 (GRCm39) splice site probably benign
R2696:Ipo8 UTSW 6 148,698,239 (GRCm39) missense probably benign 0.01
R3407:Ipo8 UTSW 6 148,723,207 (GRCm39) missense probably benign 0.03
R3408:Ipo8 UTSW 6 148,723,207 (GRCm39) missense probably benign 0.03
R3709:Ipo8 UTSW 6 148,707,842 (GRCm39) splice site probably null
R3710:Ipo8 UTSW 6 148,707,842 (GRCm39) splice site probably null
R3945:Ipo8 UTSW 6 148,719,615 (GRCm39) missense probably damaging 1.00
R4326:Ipo8 UTSW 6 148,701,662 (GRCm39) unclassified probably benign
R4329:Ipo8 UTSW 6 148,701,662 (GRCm39) unclassified probably benign
R6105:Ipo8 UTSW 6 148,700,168 (GRCm39) missense probably damaging 1.00
R6148:Ipo8 UTSW 6 148,701,278 (GRCm39) missense probably damaging 1.00
R6359:Ipo8 UTSW 6 148,678,748 (GRCm39) missense probably benign 0.01
R6377:Ipo8 UTSW 6 148,717,995 (GRCm39) nonsense probably null
R6724:Ipo8 UTSW 6 148,711,473 (GRCm39) splice site probably null
R7283:Ipo8 UTSW 6 148,725,979 (GRCm39) missense possibly damaging 0.86
R7436:Ipo8 UTSW 6 148,691,303 (GRCm39) missense probably benign 0.13
R7445:Ipo8 UTSW 6 148,691,315 (GRCm39) missense probably benign 0.09
R8044:Ipo8 UTSW 6 148,711,421 (GRCm39) missense probably damaging 1.00
R8209:Ipo8 UTSW 6 148,698,176 (GRCm39) missense possibly damaging 0.93
R8812:Ipo8 UTSW 6 148,676,575 (GRCm39) missense possibly damaging 0.64
R8943:Ipo8 UTSW 6 148,676,547 (GRCm39) missense probably benign 0.00
R9067:Ipo8 UTSW 6 148,678,730 (GRCm39) missense probably damaging 1.00
R9129:Ipo8 UTSW 6 148,700,125 (GRCm39) missense probably benign 0.05
R9297:Ipo8 UTSW 6 148,703,076 (GRCm39) missense possibly damaging 0.63
R9419:Ipo8 UTSW 6 148,686,064 (GRCm39) missense probably benign 0.15
Z1177:Ipo8 UTSW 6 148,698,210 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16