Incidental Mutation 'IGL02724:Ipo8'
ID305092
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipo8
Ensembl Gene ENSMUSG00000040029
Gene Nameimportin 8
SynonymsOM-1, Om1, C130009K11Rik, Ranbp8, 6230418K12Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02724
Quality Score
Status
Chromosome6
Chromosomal Location148770683-148831467 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to T at 148791481 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Stop codon at position 636 (C636*)
Ref Sequence ENSEMBL: ENSMUSP00000046759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048418]
Predicted Effect probably null
Transcript: ENSMUST00000048418
AA Change: C636*
SMART Domains Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: C636*

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: ENSMUST00000136896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145743
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Accs T G 2: 93,845,776 K85Q probably damaging Het
Acmsd A T 1: 127,749,085 T116S possibly damaging Het
Agrn T A 4: 156,172,807 K1189* probably null Het
Alk T C 17: 71,985,460 R508G probably benign Het
Arhgap23 T A 11: 97,491,179 Y1123N probably damaging Het
Arl6ip5 G T 6: 97,232,404 M133I probably benign Het
Axin2 G A 11: 108,942,946 G573D possibly damaging Het
B4galt2 A G 4: 117,876,878 probably null Het
Baz2b G T 2: 59,977,374 D180E possibly damaging Het
Btnl6 G T 17: 34,508,175 Y460* probably null Het
C530008M17Rik T C 5: 76,858,459 V889A unknown Het
Cct7 A T 6: 85,459,149 D14V probably damaging Het
Cd55 T A 1: 130,449,412 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cdh2 C T 18: 16,629,480 R526Q probably benign Het
Chil1 A C 1: 134,189,243 E315A probably damaging Het
Cmya5 A G 13: 93,096,655 S642P probably benign Het
Cpm C A 10: 117,629,851 T43K probably damaging Het
Cyp8b1 A T 9: 121,915,387 V293D probably benign Het
Dock1 T G 7: 135,163,353 D1691E probably benign Het
Fasn T C 11: 120,809,833 D2120G probably benign Het
Gal3st4 T C 5: 138,265,417 K440R probably benign Het
Gfpt1 A T 6: 87,056,182 K130* probably null Het
Gpr26 T C 7: 131,974,392 probably null Het
Htr2a A T 14: 74,645,062 I163F probably damaging Het
Insrr A G 3: 87,809,572 D673G probably benign Het
Kirrel C A 3: 87,090,473 E248* probably null Het
Lrp6 A G 6: 134,484,265 V743A probably damaging Het
Lrrc45 C A 11: 120,718,318 S374R probably benign Het
Map3k9 G A 12: 81,724,742 P714S probably benign Het
Mrgprb8 T A 7: 48,389,373 L264Q possibly damaging Het
Mroh4 C A 15: 74,606,151 W902L probably benign Het
Nfat5 T A 8: 107,358,735 D535E probably damaging Het
Nfatc3 T C 8: 106,108,185 V713A probably benign Het
Npc1l1 C T 11: 6,214,684 V1122M possibly damaging Het
Nsg2 A G 11: 32,055,011 probably null Het
Olfr1211 C A 2: 88,929,448 R289L probably damaging Het
Olfr282 T A 15: 98,437,779 F103L probably benign Het
Pax9 A T 12: 56,709,819 H314L possibly damaging Het
Phf21a A T 2: 92,360,247 I584F probably damaging Het
Pip5k1c A G 10: 81,313,462 E536G probably benign Het
Plekhm3 A G 1: 64,795,117 S736P probably damaging Het
Ppil2 A G 16: 17,103,602 Y73H probably benign Het
Ppp3cb T A 14: 20,523,577 probably null Het
Prdm9 A T 17: 15,563,260 S14R probably benign Het
Proc A G 18: 32,134,872 I71T probably damaging Het
Prom2 T A 2: 127,538,657 probably benign Het
Psd T C 19: 46,319,545 T675A probably benign Het
Rnf215 G T 11: 4,140,305 R341L probably damaging Het
Ryr3 A G 2: 112,902,576 probably null Het
Sh2d7 C A 9: 54,540,821 T42N probably benign Het
Sh3glb2 C T 2: 30,346,356 G279D probably benign Het
Slc25a46 A G 18: 31,605,815 probably benign Het
Snx17 T C 5: 31,197,046 S167P probably damaging Het
Snx19 A G 9: 30,432,260 N572S possibly damaging Het
Sptbn4 G A 7: 27,367,679 R1937C probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Srsf11 T C 3: 158,016,431 probably benign Het
Taar7b A T 10: 24,000,683 M249L probably benign Het
Tle6 G A 10: 81,600,064 Q6* probably null Het
Ttc30a2 T C 2: 75,976,338 E610G probably benign Het
Twnk G T 19: 45,008,118 R330L probably damaging Het
Unc13a C A 8: 71,656,305 probably benign Het
Vmn2r107 A G 17: 20,356,744 T335A possibly damaging Het
Wdtc1 A T 4: 133,297,478 S469R possibly damaging Het
Zfp382 A T 7: 30,133,737 Y271F probably benign Het
Other mutations in Ipo8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00336:Ipo8 APN 6 148782786 missense possibly damaging 0.77
IGL01012:Ipo8 APN 6 148789063 splice site probably benign
IGL01124:Ipo8 APN 6 148777376 missense probably benign
IGL01978:Ipo8 APN 6 148777289 missense probably benign 0.25
IGL02111:Ipo8 APN 6 148799780 missense probably damaging 1.00
IGL02193:Ipo8 APN 6 148777284 missense probably damaging 0.96
IGL02589:Ipo8 APN 6 148809907 missense probably damaging 0.98
IGL02690:Ipo8 APN 6 148777363 missense probably benign
IGL02935:Ipo8 APN 6 148789841 missense probably benign 0.03
IGL03027:Ipo8 APN 6 148777239 missense probably benign 0.01
IGL03065:Ipo8 APN 6 148784707 missense probably benign 0.44
IGL03338:Ipo8 APN 6 148800257 missense probably benign 0.01
R0032:Ipo8 UTSW 6 148810711 missense probably damaging 0.99
R0032:Ipo8 UTSW 6 148810711 missense probably damaging 0.99
R0088:Ipo8 UTSW 6 148801936 missense probably benign 0.27
R0373:Ipo8 UTSW 6 148775042 missense probably benign 0.00
R0539:Ipo8 UTSW 6 148818108 missense probably benign 0.00
R0565:Ipo8 UTSW 6 148786723 missense probably damaging 1.00
R0660:Ipo8 UTSW 6 148800213 missense probably benign 0.02
R0664:Ipo8 UTSW 6 148800213 missense probably benign 0.02
R0791:Ipo8 UTSW 6 148821727 missense possibly damaging 0.94
R0989:Ipo8 UTSW 6 148796682 missense probably benign 0.38
R1416:Ipo8 UTSW 6 148789093 missense probably benign
R1417:Ipo8 UTSW 6 148818052 missense probably benign 0.02
R1590:Ipo8 UTSW 6 148810665 splice site probably null
R1703:Ipo8 UTSW 6 148789892 missense probably benign 0.00
R1709:Ipo8 UTSW 6 148782728 missense probably benign
R2079:Ipo8 UTSW 6 148789162 missense probably damaging 1.00
R2338:Ipo8 UTSW 6 148789823 missense probably benign 0.00
R2359:Ipo8 UTSW 6 148816477 splice site probably benign
R2696:Ipo8 UTSW 6 148796741 missense probably benign 0.01
R3407:Ipo8 UTSW 6 148821709 missense probably benign 0.03
R3408:Ipo8 UTSW 6 148821709 missense probably benign 0.03
R3709:Ipo8 UTSW 6 148806344 intron probably null
R3710:Ipo8 UTSW 6 148806344 intron probably null
R3945:Ipo8 UTSW 6 148818117 missense probably damaging 1.00
R4326:Ipo8 UTSW 6 148800164 unclassified probably benign
R4329:Ipo8 UTSW 6 148800164 unclassified probably benign
R6105:Ipo8 UTSW 6 148798670 missense probably damaging 1.00
R6148:Ipo8 UTSW 6 148799780 missense probably damaging 1.00
R6359:Ipo8 UTSW 6 148777250 missense probably benign 0.01
R6377:Ipo8 UTSW 6 148816497 nonsense probably null
R6724:Ipo8 UTSW 6 148809975 splice site probably null
R7283:Ipo8 UTSW 6 148824481 missense possibly damaging 0.86
R7436:Ipo8 UTSW 6 148789805 missense probably benign 0.13
R7445:Ipo8 UTSW 6 148789817 missense probably benign 0.09
Posted On2015-04-16