Incidental Mutation 'IGL00336:Ipo8'
ID 5342
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 # IGL00336
Quality Score
Status
Chromosome 6
Chromosomal Location 148672181-148732965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 148684284 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 836 (M836K)
Ref Sequence ENSEMBL: ENSMUSP00000046759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048418]
AlphaFold Q7TMY7
Predicted Effect possibly damaging
Transcript: ENSMUST00000048418
AA Change: M836K

PolyPhen 2 Score 0.769 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: M836K

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: ENSMUST00000147955
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204016
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik A G 5: 138,645,366 (GRCm39) Y417C probably damaging Het
Adam28 T A 14: 68,859,569 (GRCm39) H548L possibly damaging Het
Agbl3 A T 6: 34,823,771 (GRCm39) D812V probably damaging Het
Aopep A T 13: 63,163,237 (GRCm39) D86V possibly damaging Het
Aox1 T A 1: 58,098,203 (GRCm39) L305Q probably damaging Het
Arhgef38 A G 3: 132,837,812 (GRCm39) V706A probably benign Het
Arl15 A G 13: 114,291,288 (GRCm39) I171V probably benign Het
Cacna1s C A 1: 136,012,011 (GRCm39) Y237* probably null Het
Ccnt1 T C 15: 98,462,990 (GRCm39) T61A possibly damaging Het
Col25a1 T A 3: 129,975,433 (GRCm39) probably benign Het
Col4a1 T A 8: 11,290,077 (GRCm39) probably benign Het
Dcun1d1 T C 3: 35,970,455 (GRCm39) E130G possibly damaging Het
Dnah7b G A 1: 46,181,309 (GRCm39) M1065I probably benign Het
Ephb2 T G 4: 136,384,795 (GRCm39) K872T probably damaging Het
Fga G A 3: 82,938,981 (GRCm39) G452D probably damaging Het
Flrt1 T A 19: 7,074,277 (GRCm39) N90I probably damaging Het
Fut10 T A 8: 31,685,319 (GRCm39) probably null Het
Gm4553 T C 7: 141,718,964 (GRCm39) S155G unknown Het
Gpr137b T C 13: 13,549,000 (GRCm39) probably benign Het
Gprc5d G A 6: 135,093,488 (GRCm39) Q140* probably null Het
Ifi27l2b T C 12: 103,417,476 (GRCm39) K237R unknown Het
Kcnq4 G A 4: 120,555,213 (GRCm39) Q657* probably null Het
Lama1 A T 17: 68,120,943 (GRCm39) H2693L probably benign Het
Lrrc23 A G 6: 124,755,889 (GRCm39) W40R probably damaging Het
Minar1 T C 9: 89,485,196 (GRCm39) D67G probably damaging Het
Morn2 C A 17: 80,602,933 (GRCm39) probably benign Het
Ms4a6b T A 19: 11,506,854 (GRCm39) N214K possibly damaging Het
Nags A T 11: 102,039,892 (GRCm39) S527C probably damaging Het
Ndst1 C T 18: 60,841,028 (GRCm39) G218D probably damaging Het
Or10j5 G A 1: 172,785,045 (GRCm39) V228M probably benign Het
Or5b94 T A 19: 12,651,924 (GRCm39) Y118* probably null Het
Or8h7 C T 2: 86,720,589 (GRCm39) C310Y probably benign Het
Oxa1l G T 14: 54,600,802 (GRCm39) G92* probably null Het
Parp16 A T 9: 65,137,245 (GRCm39) E157V probably damaging Het
Pcdh17 A T 14: 84,684,984 (GRCm39) I484F probably damaging Het
Pex16 A G 2: 92,209,580 (GRCm39) R263G probably benign Het
Pkd1l3 G A 8: 110,356,869 (GRCm39) E765K possibly damaging Het
Plce1 T C 19: 38,640,350 (GRCm39) V532A probably damaging Het
Polq A G 16: 36,885,609 (GRCm39) probably benign Het
Pramel5 T C 4: 143,998,191 (GRCm39) T351A probably damaging Het
Prokr1 A T 6: 87,565,593 (GRCm39) I84N probably damaging Het
Prss30 A T 17: 24,192,695 (GRCm39) S162T probably benign Het
Ranbp2 A G 10: 58,287,806 (GRCm39) K25E probably damaging Het
Rapsn A G 2: 90,866,205 (GRCm39) T22A probably damaging Het
Rhoj G T 12: 75,355,680 (GRCm39) G9V probably damaging Het
Rnf213 A G 11: 119,340,169 (GRCm39) R3467G probably benign Het
Rreb1 C A 13: 38,113,622 (GRCm39) S327* probably null Het
Scn5a G A 9: 119,315,290 (GRCm39) P1806L probably damaging Het
Sema6a C A 18: 47,423,042 (GRCm39) probably null Het
Stag3 G A 5: 138,295,921 (GRCm39) E416K probably benign Het
Stpg1 T A 4: 135,256,856 (GRCm39) S216T possibly damaging Het
Tfeb C A 17: 48,102,589 (GRCm39) N426K probably benign Het
Trp53bp1 G T 2: 121,087,060 (GRCm39) Q199K possibly damaging Het
Ubr4 A G 4: 139,155,877 (GRCm39) D2234G probably damaging Het
Ush1c T G 7: 45,846,194 (GRCm39) Q866P probably benign Het
Vdr T A 15: 97,782,735 (GRCm39) D29V probably damaging Het
Vps13c T C 9: 67,853,224 (GRCm39) V2439A probably benign Het
Xirp2 T C 2: 67,342,942 (GRCm39) S1728P possibly damaging Het
Zfp9 A G 6: 118,441,436 (GRCm39) S409P probably damaging Het
Other mutations in Ipo8
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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 2012-04-20