Incidental Mutation 'R7096:Ranbp17'
ID 550500
Institutional Source Beutler Lab
Gene Symbol Ranbp17
Ensembl Gene ENSMUSG00000040594
Gene Name RAN binding protein 17
Synonyms 4932704E15Rik
MMRRC Submission 045188-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7096 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 33161795-33463746 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 33424896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 487 (I487V)
Ref Sequence ENSEMBL: ENSMUSP00000137898 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037522] [ENSMUST00000102815] [ENSMUST00000129179]
AlphaFold Q99NF8
Predicted Effect probably benign
Transcript: ENSMUST00000037522
AA Change: I487V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000035840
Gene: ENSMUSG00000040594
AA Change: I487V

DomainStartEndE-ValueType
IBN_N 30 95 3.24e-5 SMART
low complexity region 270 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000102815
AA Change: I487V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099879
Gene: ENSMUSG00000040594
AA Change: I487V

DomainStartEndE-ValueType
IBN_N 30 95 3.24e-5 SMART
low complexity region 270 283 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129179
AA Change: I487V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000137898
Gene: ENSMUSG00000040594
AA Change: I487V

DomainStartEndE-ValueType
IBN_N 30 95 3.24e-5 SMART
low complexity region 270 283 N/A INTRINSIC
Meta Mutation Damage Score 0.0608 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 97% (68/70)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The transport of protein and large RNAs through the nuclear pore complexes (NPC) is an energy-dependent and regulated process. The import of proteins with a nuclear localization signal (NLS) is accomplished by recognition of one or more clusters of basic amino acids by the importin-alpha/beta complex; see MIM 600685 and MIM 602738. The small GTPase RAN (MIM 601179) plays a key role in NLS-dependent protein import. RAN-binding protein-17 is a member of the importin-beta superfamily of nuclear transport receptors.[supplied by OMIM, Jul 2002]
Allele List at MGI
Other mutations in this stock
Total: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 T G 3: 40,888,305 (GRCm39) M383R probably damaging Het
Acd T A 8: 106,425,121 (GRCm39) E366V possibly damaging Het
Acvr2b T A 9: 119,257,255 (GRCm39) probably null Het
Alg10b C T 15: 90,111,564 (GRCm39) T136I probably benign Het
Ankrd42 T A 7: 92,241,040 (GRCm39) K440* probably null Het
Apc T A 18: 34,449,010 (GRCm39) S1969T probably damaging Het
Arhgef25 T C 10: 127,019,897 (GRCm39) Y447C probably damaging Het
AW146154 G A 7: 41,130,867 (GRCm39) A83V probably benign Het
Bach1 G A 16: 87,516,179 (GRCm39) R240Q probably benign Het
Barhl1 T G 2: 28,799,726 (GRCm39) I300L probably benign Het
Brd1 C A 15: 88,598,138 (GRCm39) R536L probably damaging Het
Brms1 T A 19: 5,096,708 (GRCm39) I130N probably damaging Het
Ccdc68 A G 18: 70,073,241 (GRCm39) H63R probably damaging Het
Ccl28 A G 13: 120,112,429 (GRCm39) I74V probably benign Het
Cd300ld T A 11: 114,878,321 (GRCm39) I64F possibly damaging Het
Cdkl2 G A 5: 92,181,043 (GRCm39) Q199* probably null Het
Cdkn2c C T 4: 109,518,555 (GRCm39) R133Q probably benign Het
Coq2 A G 5: 100,811,586 (GRCm39) probably benign Het
Coq6 T C 12: 84,408,595 (GRCm39) probably null Het
Csmd2 C T 4: 128,356,519 (GRCm39) S1608L Het
Cyp11b2 T A 15: 74,727,837 (GRCm39) R82W probably damaging Het
Cyp2d10 T C 15: 82,289,462 (GRCm39) T217A probably benign Het
Dclk2 C T 3: 86,700,566 (GRCm39) R638H probably damaging Het
Dnah7a T C 1: 53,522,599 (GRCm39) I2880V possibly damaging Het
Dync1h1 C A 12: 110,623,512 (GRCm39) T3595K probably damaging Het
Ecscr T A 18: 35,848,478 (GRCm39) E183V probably damaging Het
Elovl6 A G 3: 129,398,755 (GRCm39) N52S probably benign Het
Eps8l1 G T 7: 4,477,190 (GRCm39) A455S probably benign Het
Gpat2 A G 2: 127,270,209 (GRCm39) N74S probably benign Het
Gstk1 C A 6: 42,226,407 (GRCm39) T172K probably damaging Het
Gtf3c1 T C 7: 125,295,731 (GRCm39) probably null Het
Gucy2c T C 6: 136,705,339 (GRCm39) D532G probably benign Het
Hoxc12 T A 15: 102,845,473 (GRCm39) N62K possibly damaging Het
Hsdl1 C A 8: 120,293,064 (GRCm39) A124S possibly damaging Het
Il11 T C 7: 4,778,995 (GRCm39) Y45C probably damaging Het
Lcat C T 8: 106,666,309 (GRCm39) M404I possibly damaging Het
Ldhb A G 6: 142,447,099 (GRCm39) F72L probably benign Het
Map10 T C 8: 126,398,662 (GRCm39) L685P probably damaging Het
Me2 A G 18: 73,927,961 (GRCm39) V174A probably benign Het
Med13l C A 5: 118,859,991 (GRCm39) Q328K possibly damaging Het
Mta2 A T 19: 8,925,139 (GRCm39) I336F probably damaging Het
Mterf1a A T 5: 3,941,769 (GRCm39) I33N probably damaging Het
Myo15b T A 11: 115,782,324 (GRCm39) probably null Het
Myof C A 19: 37,924,648 (GRCm39) G1215V probably damaging Het
Nlgn2 G A 11: 69,716,516 (GRCm39) T675M probably damaging Het
Or1e26 T A 11: 73,480,463 (GRCm39) M34L probably benign Het
Or5p61 C A 7: 107,758,848 (GRCm39) M77I probably benign Het
Or6c38 T C 10: 128,929,715 (GRCm39) I43V probably damaging Het
Padi3 T C 4: 140,527,435 (GRCm39) D122G probably damaging Het
Pcnx3 G A 19: 5,722,643 (GRCm39) R1350C probably damaging Het
Pdzrn4 C A 15: 92,295,384 (GRCm39) Q197K probably benign Het
Pitpnm2 C T 5: 124,267,324 (GRCm39) G639S possibly damaging Het
Piwil4 T A 9: 14,648,112 (GRCm39) K156* probably null Het
Pkmyt1 T A 17: 23,953,087 (GRCm39) H214Q probably damaging Het
Pnpt1 G A 11: 29,104,867 (GRCm39) R597Q probably benign Het
Poteg C A 8: 27,963,595 (GRCm39) A344E probably benign Het
Rad21l A G 2: 151,509,840 (GRCm39) M87T probably benign Het
Rap1gap2 C A 11: 74,283,057 (GRCm39) R681L probably damaging Het
Rimbp2 C A 5: 128,851,333 (GRCm39) R871L probably damaging Het
Rnf135 T C 11: 80,080,051 (GRCm39) V114A probably benign Het
Skic2 T A 17: 35,060,446 (GRCm39) H849L probably benign Het
Snai2 A G 16: 14,525,028 (GRCm39) H178R possibly damaging Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Taar1 A T 10: 23,796,809 (GRCm39) E169V possibly damaging Het
Tdrd12 G T 7: 35,187,014 (GRCm39) D625E Het
Tlr6 A G 5: 65,111,119 (GRCm39) V596A probably benign Het
Trak2 T G 1: 58,942,749 (GRCm39) N886H probably damaging Het
Tsga10 T A 1: 37,879,695 (GRCm39) D32V probably damaging Het
Vmn1r214 A G 13: 23,219,196 (GRCm39) D230G probably damaging Het
Vmn2r108 A G 17: 20,682,762 (GRCm39) L814S probably damaging Het
Zbbx T C 3: 74,989,044 (GRCm39) D353G probably benign Het
Other mutations in Ranbp17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Ranbp17 APN 11 33,443,402 (GRCm39) missense probably benign 0.13
IGL00582:Ranbp17 APN 11 33,454,683 (GRCm39) missense probably damaging 0.99
IGL00698:Ranbp17 APN 11 33,391,910 (GRCm39) missense probably benign 0.00
IGL00789:Ranbp17 APN 11 33,193,249 (GRCm39) missense probably benign 0.27
IGL01304:Ranbp17 APN 11 33,216,147 (GRCm39) missense possibly damaging 0.91
IGL01936:Ranbp17 APN 11 33,437,689 (GRCm39) missense probably benign 0.00
IGL01937:Ranbp17 APN 11 33,278,520 (GRCm39) missense possibly damaging 0.73
IGL01945:Ranbp17 APN 11 33,278,520 (GRCm39) missense possibly damaging 0.73
IGL01993:Ranbp17 APN 11 33,450,770 (GRCm39) missense possibly damaging 0.48
IGL02588:Ranbp17 APN 11 33,167,361 (GRCm39) missense probably benign
IGL02870:Ranbp17 APN 11 33,193,262 (GRCm39) missense probably damaging 1.00
IGL03149:Ranbp17 APN 11 33,193,183 (GRCm39) missense possibly damaging 0.76
PIT4445001:Ranbp17 UTSW 11 33,431,020 (GRCm39) critical splice donor site probably null
PIT4480001:Ranbp17 UTSW 11 33,247,340 (GRCm39) critical splice donor site probably null
R0079:Ranbp17 UTSW 11 33,450,682 (GRCm39) missense probably damaging 1.00
R0349:Ranbp17 UTSW 11 33,450,689 (GRCm39) missense probably benign
R0395:Ranbp17 UTSW 11 33,424,896 (GRCm39) missense probably benign
R1456:Ranbp17 UTSW 11 33,216,310 (GRCm39) missense probably damaging 1.00
R1539:Ranbp17 UTSW 11 33,247,394 (GRCm39) missense probably damaging 0.99
R1542:Ranbp17 UTSW 11 33,214,672 (GRCm39) missense probably benign
R1770:Ranbp17 UTSW 11 33,167,301 (GRCm39) missense probably benign 0.31
R2216:Ranbp17 UTSW 11 33,431,125 (GRCm39) missense probably damaging 1.00
R2656:Ranbp17 UTSW 11 33,193,122 (GRCm39) missense probably benign
R2883:Ranbp17 UTSW 11 33,454,708 (GRCm39) missense probably damaging 1.00
R3498:Ranbp17 UTSW 11 33,169,203 (GRCm39) small deletion probably benign
R3499:Ranbp17 UTSW 11 33,169,203 (GRCm39) small deletion probably benign
R3721:Ranbp17 UTSW 11 33,169,203 (GRCm39) small deletion probably benign
R3788:Ranbp17 UTSW 11 33,169,203 (GRCm39) small deletion probably benign
R3790:Ranbp17 UTSW 11 33,169,203 (GRCm39) small deletion probably benign
R3914:Ranbp17 UTSW 11 33,429,189 (GRCm39) missense probably benign 0.02
R3915:Ranbp17 UTSW 11 33,429,189 (GRCm39) missense probably benign 0.02
R3949:Ranbp17 UTSW 11 33,429,189 (GRCm39) missense probably benign 0.02
R4021:Ranbp17 UTSW 11 33,429,189 (GRCm39) missense probably benign 0.02
R4022:Ranbp17 UTSW 11 33,429,189 (GRCm39) missense probably benign 0.02
R4027:Ranbp17 UTSW 11 33,450,718 (GRCm39) missense possibly damaging 0.67
R4421:Ranbp17 UTSW 11 33,425,056 (GRCm39) missense probably benign 0.01
R4462:Ranbp17 UTSW 11 33,167,421 (GRCm39) critical splice acceptor site probably null
R4659:Ranbp17 UTSW 11 33,216,288 (GRCm39) missense probably damaging 1.00
R4791:Ranbp17 UTSW 11 33,437,746 (GRCm39) missense probably benign 0.11
R4837:Ranbp17 UTSW 11 33,278,451 (GRCm39) missense probably damaging 1.00
R4914:Ranbp17 UTSW 11 33,163,425 (GRCm39) missense probably benign
R4939:Ranbp17 UTSW 11 33,169,223 (GRCm39) missense probably benign 0.31
R5119:Ranbp17 UTSW 11 33,354,181 (GRCm39) makesense probably null
R5171:Ranbp17 UTSW 11 33,167,419 (GRCm39) missense probably benign
R5182:Ranbp17 UTSW 11 33,169,287 (GRCm39) intron probably benign
R5288:Ranbp17 UTSW 11 33,169,241 (GRCm39) missense possibly damaging 0.75
R5384:Ranbp17 UTSW 11 33,169,241 (GRCm39) missense possibly damaging 0.75
R5385:Ranbp17 UTSW 11 33,169,241 (GRCm39) missense possibly damaging 0.75
R5398:Ranbp17 UTSW 11 33,424,998 (GRCm39) missense probably damaging 1.00
R6658:Ranbp17 UTSW 11 33,169,214 (GRCm39) nonsense probably null
R6701:Ranbp17 UTSW 11 33,425,066 (GRCm39) missense probably damaging 1.00
R6796:Ranbp17 UTSW 11 33,167,398 (GRCm39) missense probably benign
R6869:Ranbp17 UTSW 11 33,463,074 (GRCm39) start gained probably benign
R7156:Ranbp17 UTSW 11 33,247,420 (GRCm39) missense probably damaging 1.00
R7451:Ranbp17 UTSW 11 33,234,114 (GRCm39) splice site probably null
R7958:Ranbp17 UTSW 11 33,437,702 (GRCm39) missense probably damaging 1.00
R9348:Ranbp17 UTSW 11 33,429,232 (GRCm39) missense probably benign 0.01
R9529:Ranbp17 UTSW 11 33,424,826 (GRCm39) missense unknown
RF016:Ranbp17 UTSW 11 33,279,511 (GRCm39) missense probably damaging 0.99
X0013:Ranbp17 UTSW 11 33,239,562 (GRCm39) splice site probably null
X0024:Ranbp17 UTSW 11 33,163,404 (GRCm39) makesense probably null
Z1176:Ranbp17 UTSW 11 33,431,108 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCATGATGAGTTGTTGCCTG -3'
(R):5'- ACCCTCTGGATGACACTGCTAC -3'

Sequencing Primer
(F):5'- GTCAAGTCACCAAAATATCAAATGG -3'
(R):5'- GGATGACACTGCTACCGTGTTC -3'
Posted On 2019-05-15