Incidental Mutation 'R1703:Ipo8'
ID 189882
Institutional Source Beutler Lab
Gene Symbol Ipo8
Ensembl Gene ENSMUSG00000040029
Gene Name importin 8
Synonyms C130009K11Rik, Om1, Ranbp8, OM-1, 6230418K12Rik
MMRRC Submission 039736-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1703 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 148672181-148732965 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 148691390 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 660 (Y660C)
Ref Sequence ENSEMBL: ENSMUSP00000046759 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048418]
AlphaFold Q7TMY7
Predicted Effect probably benign
Transcript: ENSMUST00000048418
AA Change: Y660C

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000046759
Gene: ENSMUSG00000040029
AA Change: Y660C

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
Meta Mutation Damage Score 0.1017 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.2%
  • 20x: 92.4%
Validation Efficiency 99% (86/87)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057M21Rik A T 7: 130,945,431 (GRCm39) Y401* probably null Het
4932415M13Rik C A 17: 54,032,065 (GRCm39) noncoding transcript Het
Abtb3 A G 10: 85,223,248 (GRCm39) D19G unknown Het
Acoxl T A 2: 127,820,692 (GRCm39) S81R probably damaging Het
Adamtsl4 A G 3: 95,584,924 (GRCm39) C915R probably damaging Het
Adgra3 C T 5: 50,164,117 (GRCm39) M287I probably benign Het
Afg1l T G 10: 42,276,395 (GRCm39) D250A probably damaging Het
Akap8l C T 17: 32,551,457 (GRCm39) R511H probably damaging Het
Amfr T C 8: 94,700,871 (GRCm39) T530A probably benign Het
Ank2 C T 3: 126,723,415 (GRCm39) V971M probably damaging Het
App A G 16: 84,762,656 (GRCm39) S656P probably damaging Het
Arid5a T A 1: 36,358,656 (GRCm39) probably null Het
Asic5 T A 3: 81,907,029 (GRCm39) V60D possibly damaging Het
Atm G T 9: 53,412,000 (GRCm39) H1019N probably benign Het
Cep250 A G 2: 155,807,466 (GRCm39) K277R probably benign Het
Chrna7 C T 7: 62,749,255 (GRCm39) R409H probably damaging Het
Chrng A T 1: 87,138,628 (GRCm39) N419I possibly damaging Het
Ciao1 T C 2: 127,087,739 (GRCm39) S199G probably benign Het
Clstn2 A T 9: 97,340,290 (GRCm39) M694K possibly damaging Het
Cpeb2 A G 5: 43,391,181 (GRCm39) probably benign Het
Cyp2c69 T A 19: 39,864,810 (GRCm39) I223F probably benign Het
Dennd1b A T 1: 139,097,492 (GRCm39) probably null Het
Dnah17 A T 11: 117,917,575 (GRCm39) L4162Q probably damaging Het
Dnm1 T C 2: 32,213,463 (GRCm39) M506V probably benign Het
Ecsit A G 9: 21,986,107 (GRCm39) V173A probably damaging Het
Fam13b T C 18: 34,584,492 (GRCm39) probably null Het
Fgl2 T A 5: 21,577,730 (GRCm39) W6R possibly damaging Het
Galnt9 G A 5: 110,767,038 (GRCm39) R503H probably damaging Het
Gramd1a C T 7: 30,838,959 (GRCm39) V247M possibly damaging Het
Grip2 A T 6: 91,754,379 (GRCm39) I632N probably damaging Het
Hspg2 T C 4: 137,286,462 (GRCm39) V3627A probably damaging Het
Isg15 T C 4: 156,284,265 (GRCm39) R88G possibly damaging Het
Itgb5 T A 16: 33,730,870 (GRCm39) D388E probably benign Het
Jhy T C 9: 40,856,133 (GRCm39) Y118C probably damaging Het
Kalrn G A 16: 34,025,696 (GRCm39) T931M probably damaging Het
Kif21a A G 15: 90,833,250 (GRCm39) probably null Het
Lama2 A T 10: 27,142,667 (GRCm39) Y604N probably damaging Het
Lrp3 T G 7: 34,912,586 (GRCm39) S34R possibly damaging Het
Lrrc37 C T 11: 103,431,700 (GRCm39) V1372I probably benign Het
Lyn T C 4: 3,738,867 (GRCm39) probably null Het
Mroh8 C T 2: 157,113,896 (GRCm39) V132I probably benign Het
Mthfd1l T C 10: 4,098,093 (GRCm39) F977L probably damaging Het
Nol8 C T 13: 49,820,933 (GRCm39) T912M possibly damaging Het
Nrxn1 A T 17: 90,515,845 (GRCm39) N169K probably damaging Het
Oplah A G 15: 76,180,867 (GRCm39) Y1279H probably benign Het
Or10ag56 T C 2: 87,139,754 (GRCm39) V207A probably benign Het
Or4c101 T A 2: 88,390,599 (GRCm39) M262K possibly damaging Het
Pcsk5 T C 19: 17,729,458 (GRCm39) N129S probably benign Het
Pcyt2 G T 11: 120,503,894 (GRCm39) P185T probably benign Het
Pdlim2 A G 14: 70,411,784 (GRCm39) probably null Het
Pgs1 T C 11: 117,905,554 (GRCm39) probably benign Het
Qprt A G 7: 126,707,343 (GRCm39) V251A probably benign Het
Rasal2 A C 1: 156,985,170 (GRCm39) L834R probably damaging Het
Reg1 T C 6: 78,405,432 (GRCm39) C161R probably damaging Het
Rp1 T A 1: 4,415,392 (GRCm39) I1907F probably damaging Het
S1pr5 T C 9: 21,155,346 (GRCm39) D360G possibly damaging Het
Sart3 C A 5: 113,890,280 (GRCm39) V482F probably benign Het
Scarf2 A G 16: 17,620,713 (GRCm39) E127G probably damaging Het
Serinc5 T C 13: 92,825,305 (GRCm39) S245P probably damaging Het
Serpinc1 G T 1: 160,821,087 (GRCm39) R57L probably damaging Het
Setd2 A G 9: 110,378,932 (GRCm39) S632G probably benign Het
Sgca A T 11: 94,860,217 (GRCm39) L307M probably damaging Het
Slc7a9 C A 7: 35,154,000 (GRCm39) Q208K probably benign Het
Slfn10-ps C T 11: 82,920,869 (GRCm39) noncoding transcript Het
Spam1 A T 6: 24,796,256 (GRCm39) D69V probably damaging Het
Tanc1 A G 2: 59,673,365 (GRCm39) E1490G probably benign Het
Tbc1d22a G T 15: 86,123,416 (GRCm39) D150Y probably benign Het
Tex10 C T 4: 48,456,800 (GRCm39) R637Q probably benign Het
Tlx1 A G 19: 45,144,443 (GRCm39) D55G possibly damaging Het
Tram2 G T 1: 21,074,458 (GRCm39) N241K probably damaging Het
Ttc23l T C 15: 10,523,744 (GRCm39) Y325C probably damaging Het
Ubac2 T A 14: 122,142,582 (GRCm39) S27T probably benign Het
Utrn G A 10: 12,603,473 (GRCm39) probably benign Het
Vnn3 A T 10: 23,741,828 (GRCm39) M378L probably benign Het
Vps18 T A 2: 119,119,538 (GRCm39) D6E probably benign Het
Xkr5 T A 8: 18,989,134 (GRCm39) I253F probably benign Het
Yeats4 A T 10: 117,051,628 (GRCm39) C210S probably benign Het
Zdhhc20 A G 14: 58,076,545 (GRCm39) probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- CTTCCCCTCCTGCTAGAATGCAAAC -3'
(R):5'- ATCCCAGTAGAGCTGAAGGTAGCC -3'

Sequencing Primer
(F):5'- ggatggctgggctgatg -3'
(R):5'- AGAGCTGAAGGTAGCCTCTCTG -3'
Posted On 2014-05-14