Incidental Mutation 'IGL02111:Ipo8'
ID 280173
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 # IGL02111
Quality Score
Status
Chromosome 6
Chromosomal Location 148672181-148732965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 148701278 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 514 (V514A)
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: V514A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: V514A

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: ENSMUST00000123842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144357
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145743
Predicted Effect probably benign
Transcript: ENSMUST00000145960
SMART Domains Protein: ENSMUSP00000117365
Gene: ENSMUSG00000040029

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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg3 G A 8: 95,761,627 (GRCm39) R130Q probably damaging Het
Adipor2 A T 6: 119,347,157 (GRCm39) L42* probably null Het
Ankrd45 A G 1: 160,990,921 (GRCm39) K259E probably damaging Het
Apoc3 T C 9: 46,145,772 (GRCm39) K79R possibly damaging Het
Arhgap40 T C 2: 158,381,764 (GRCm39) Y416H probably damaging Het
Armc5 A G 7: 127,843,255 (GRCm39) T683A probably benign Het
Bora T C 14: 99,284,813 (GRCm39) V21A probably damaging Het
Cacna1b C T 2: 24,497,003 (GRCm39) S2189N probably damaging Het
Cct2 G A 10: 116,889,017 (GRCm39) T57I probably damaging Het
Cd200r1 A T 16: 44,609,144 (GRCm39) N34Y probably damaging Het
Cd300ld2 T A 11: 114,903,219 (GRCm39) probably benign Het
Cntnap5a G A 1: 116,017,082 (GRCm39) R225H probably benign Het
Cntnap5c A T 17: 58,409,103 (GRCm39) D447V probably damaging Het
Cpne7 T C 8: 123,852,392 (GRCm39) probably benign Het
Dap3 G A 3: 88,836,725 (GRCm39) T92I probably benign Het
Dnmbp A G 19: 43,855,994 (GRCm39) L254P probably damaging Het
Egfem1 G A 3: 29,705,045 (GRCm39) probably null Het
Fam120b T C 17: 15,622,847 (GRCm39) L275P possibly damaging Het
Fam161a A T 11: 22,970,026 (GRCm39) H68L probably benign Het
Fam193a A G 5: 34,568,001 (GRCm39) E100G possibly damaging Het
Ftmt A T 18: 52,465,125 (GRCm39) D147V possibly damaging Het
Gm10136 T C 19: 28,981,122 (GRCm39) K41E probably benign Het
Gm10797 C T 10: 67,408,397 (GRCm39) noncoding transcript Het
Hsf1 A G 15: 76,380,281 (GRCm39) probably benign Het
Itfg2 T C 6: 128,387,344 (GRCm39) H422R probably benign Het
Lrp4 G T 2: 91,336,404 (GRCm39) L1738F probably damaging Het
Matcap2 T C 9: 22,335,475 (GRCm39) I31T probably benign Het
Mettl17 A G 14: 52,128,843 (GRCm39) E371G probably damaging Het
Mfsd6 A T 1: 52,747,503 (GRCm39) L454Q probably damaging Het
Myh10 A T 11: 68,680,938 (GRCm39) E956V probably damaging Het
Ncoa1 A T 12: 4,324,944 (GRCm39) M1K probably null Het
Or2d3c A C 7: 106,525,823 (GRCm39) V281G probably damaging Het
Or52e4 A G 7: 104,706,152 (GRCm39) D233G probably benign Het
Or5d36 T A 2: 87,901,571 (GRCm39) N52Y probably benign Het
Otop1 T A 5: 38,435,045 (GRCm39) C89S probably benign Het
Pitrm1 G T 13: 6,623,181 (GRCm39) R775L probably benign Het
Prpf19 A G 19: 10,882,458 (GRCm39) T512A probably benign Het
Prpf4b T A 13: 35,067,944 (GRCm39) S258T probably benign Het
Rhbdl2 T C 4: 123,716,630 (GRCm39) Y196H probably damaging Het
Rnf187 T C 11: 58,828,006 (GRCm39) D148G probably damaging Het
Sbds A G 5: 130,279,782 (GRCm39) I74T probably damaging Het
Sec63 T C 10: 42,686,884 (GRCm39) V468A probably damaging Het
Slc35b3 A T 13: 39,139,758 (GRCm39) M23K probably damaging Het
Slc6a9 A T 4: 117,721,210 (GRCm39) Y208F probably benign Het
Slfn8 A T 11: 82,895,324 (GRCm39) L494Q probably damaging Het
Sorcs1 T G 19: 50,218,683 (GRCm39) M600L probably benign Het
Supt7l T C 5: 31,673,022 (GRCm39) probably null Het
Tecrl T A 5: 83,502,639 (GRCm39) Q70L probably damaging Het
Tedc2 A T 17: 24,437,140 (GRCm39) probably benign Het
Tespa1 A G 10: 130,191,353 (GRCm39) D99G probably damaging Het
Tmem126b G T 7: 90,118,269 (GRCm39) Q204K probably damaging Het
Tmem181c-ps A T 17: 6,887,766 (GRCm39) noncoding transcript Het
Tmem184a G T 5: 139,798,856 (GRCm39) T31K possibly damaging Het
Tmprss11e T A 5: 86,867,660 (GRCm39) I137F possibly damaging Het
Tmprss13 C T 9: 45,247,403 (GRCm39) T255I probably damaging Het
Top1mt G A 15: 75,537,555 (GRCm39) probably benign Het
Treh C T 9: 44,594,258 (GRCm39) T168I probably benign Het
Ttn A T 2: 76,597,672 (GRCm39) I11420N probably benign Het
Zp2 T C 7: 119,731,641 (GRCm39) K705E possibly damaging Het
Zw10 T C 9: 48,980,054 (GRCm39) I395T 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
IGL02193:Ipo8 APN 6 148,678,782 (GRCm39) missense probably damaging 0.96
IGL02589:Ipo8 APN 6 148,711,405 (GRCm39) missense probably damaging 0.98
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