Incidental Mutation 'R1892:Ranbp9'
ID 211643
Institutional Source Beutler Lab
Gene Symbol Ranbp9
Ensembl Gene ENSMUSG00000038546
Gene Name RAN binding protein 9
Synonyms RanBPM, IBAP-1
MMRRC Submission 039912-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.958) question?
Stock # R1892 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 43556151-43634758 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 43569933 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Phenylalanine at position 495 (C495F)
Ref Sequence ENSEMBL: ENSMUSP00000130636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000144326] [ENSMUST00000222239] [ENSMUST00000222651]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000144326
AA Change: C495F

PolyPhen 2 Score 0.870 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000130636
Gene: ENSMUSG00000038546
AA Change: C495F

DomainStartEndE-ValueType
low complexity region 2 114 N/A INTRINSIC
SPRY 194 315 1.66e-43 SMART
LisH 347 379 6.82e-5 SMART
CTLH 385 442 9.78e-15 SMART
low complexity region 455 478 N/A INTRINSIC
CRA 596 698 1.6e-24 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000220500
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220529
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220774
Predicted Effect probably benign
Transcript: ENSMUST00000221092
Predicted Effect probably benign
Transcript: ENSMUST00000222239
Predicted Effect probably benign
Transcript: ENSMUST00000222651
AA Change: C331F

PolyPhen 2 Score 0.309 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds RAN, a small GTP binding protein belonging to the RAS superfamily that is essential for the translocation of RNA and proteins through the nuclear pore complex. The protein encoded by this gene has also been shown to interact with several other proteins, including met proto-oncogene, homeodomain interacting protein kinase 2, androgen receptor, and cyclin-dependent kinase 11. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display partial neonatal lethality. Survivors display infertility with impaired spermatogenesis and oogenesis, azoospermia and premature ovarian failure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 119,815,561 (GRCm39) A270T probably benign Het
Abcb7 A T X: 103,386,142 (GRCm39) H97Q probably damaging Het
Adat3 T C 10: 80,442,249 (GRCm39) L29P probably damaging Het
AI987944 A T 7: 41,024,020 (GRCm39) C320S probably damaging Het
Asic4 C T 1: 75,446,126 (GRCm39) R285W probably damaging Het
Asic5 A T 3: 81,928,293 (GRCm39) I419L probably damaging Het
Batf A G 12: 85,736,102 (GRCm39) K42E probably damaging Het
Bcar3 A G 3: 122,301,785 (GRCm39) N160S probably benign Het
Bco2 C A 9: 50,461,863 (GRCm39) G47V probably damaging Het
Bicc1 T G 10: 70,794,614 (GRCm39) K181T probably damaging Het
Brinp2 A G 1: 158,082,542 (GRCm39) probably null Het
Cacng8 A G 7: 3,463,568 (GRCm39) D240G possibly damaging Het
Calca A G 7: 114,232,962 (GRCm39) Y96H probably damaging Het
Cdh1 A T 8: 107,390,882 (GRCm39) K666I possibly damaging Het
Cdh16 A T 8: 105,344,631 (GRCm39) I500N possibly damaging Het
Chst14 A G 2: 118,757,830 (GRCm39) Y208C probably damaging Het
Chst9 T C 18: 15,586,017 (GRCm39) H182R probably damaging Het
Clk2 A G 3: 89,082,502 (GRCm39) I367M possibly damaging Het
Cobl G C 11: 12,203,258 (GRCm39) S1066W probably damaging Het
Ctcfl A G 2: 172,960,478 (GRCm39) V35A probably benign Het
Dchs1 G T 7: 105,413,363 (GRCm39) H1151N probably benign Het
Dennd1c T C 17: 57,374,083 (GRCm39) T529A probably benign Het
Dnah11 A T 12: 118,070,209 (GRCm39) V1532D possibly damaging Het
Dync1h1 A G 12: 110,612,738 (GRCm39) Y2871C probably damaging Het
Dytn T C 1: 63,716,420 (GRCm39) E51G probably benign Het
Esd C T 14: 74,987,113 (GRCm39) A266V probably damaging Het
Gli1 T C 10: 127,165,975 (GRCm39) M1093V possibly damaging Het
Gm15446 A G 5: 110,091,253 (GRCm39) K502E probably damaging Het
Gm4076 T A 13: 85,275,447 (GRCm39) noncoding transcript Het
Gm9830 A G 9: 44,375,825 (GRCm39) noncoding transcript Het
Gm9938 G A 19: 23,701,955 (GRCm39) probably benign Het
Grhl1 G A 12: 24,634,909 (GRCm39) R245H probably damaging Het
Hnrnpul1 A T 7: 25,426,191 (GRCm39) D553E probably benign Het
Hpn G A 7: 30,798,468 (GRCm39) Q415* probably null Het
Hsd11b1 T G 1: 192,906,068 (GRCm39) M175L probably benign Het
Htra1 G A 7: 130,586,799 (GRCm39) V461I possibly damaging Het
Il1rl2 A G 1: 40,366,694 (GRCm39) H76R probably damaging Het
Insrr G A 3: 87,721,184 (GRCm39) V1112M probably damaging Het
Ints9 T C 14: 65,257,872 (GRCm39) S351P probably benign Het
Itgav T A 2: 83,601,680 (GRCm39) N350K probably damaging Het
Kdm4d C A 9: 14,375,613 (GRCm39) V82L probably benign Het
Klc1 T C 12: 111,748,261 (GRCm39) probably null Het
Kmt5c T A 7: 4,745,714 (GRCm39) C69* probably null Het
Lgals3 T G 14: 47,622,164 (GRCm39) N193K possibly damaging Het
Morc2b T A 17: 33,354,748 (GRCm39) D1008V probably damaging Het
Mpg C T 11: 32,181,720 (GRCm39) Q243* probably null Het
Muc15 C T 2: 110,567,697 (GRCm39) R281* probably null Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nek5 A G 8: 22,597,745 (GRCm39) M278T probably benign Het
Npas2 A G 1: 39,384,503 (GRCm39) T599A probably benign Het
Nrf1 A G 6: 30,144,787 (GRCm39) D519G probably null Het
Nup43 A G 10: 7,549,373 (GRCm39) H176R probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or10j3 T C 1: 173,031,795 (GRCm39) Y291H probably damaging Het
Or5p72 A T 7: 108,022,147 (GRCm39) Y123F possibly damaging Het
Or6c75 A C 10: 129,336,902 (GRCm39) I50L probably benign Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Pik3ip1 G T 11: 3,283,304 (GRCm39) A135S probably damaging Het
Pira13 A C 7: 3,827,573 (GRCm39) C195G probably benign Het
Ppp4c A G 7: 126,385,452 (GRCm39) V119A probably damaging Het
Prepl A G 17: 85,395,878 (GRCm39) Y35H possibly damaging Het
Ptpn13 A G 5: 103,649,545 (GRCm39) Y316C possibly damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Ranbp2 T C 10: 58,299,921 (GRCm39) V491A probably benign Het
Rfx8 A T 1: 39,709,746 (GRCm39) probably null Het
Rnf111 T A 9: 70,383,656 (GRCm39) K92N probably damaging Het
Rtn1 A G 12: 72,259,337 (GRCm39) I772T probably damaging Het
Ryr2 T A 13: 11,673,844 (GRCm39) K72* probably null Het
Sergef A T 7: 46,264,040 (GRCm39) probably null Het
Sez6l T C 5: 112,620,665 (GRCm39) N305S probably damaging Het
Slc40a1 A T 1: 45,950,302 (GRCm39) C383* probably null Het
Stab2 C T 10: 86,773,913 (GRCm39) C806Y probably damaging Het
Stard9 A G 2: 120,524,189 (GRCm39) T795A probably benign Het
Stk31 T C 6: 49,415,408 (GRCm39) I536T probably damaging Het
Stox1 T A 10: 62,501,178 (GRCm39) T461S possibly damaging Het
Suv39h2 T C 2: 3,460,805 (GRCm39) Y219C probably damaging Het
Tap1 T G 17: 34,413,915 (GRCm39) D643E probably damaging Het
Tbc1d2b T A 9: 90,100,996 (GRCm39) I665F probably damaging Het
Tdrd6 T C 17: 43,935,696 (GRCm39) N1784S probably benign Het
Tmem14c T C 13: 41,174,633 (GRCm39) F81L possibly damaging Het
Tnrc6c A G 11: 117,605,188 (GRCm39) N108D probably benign Het
Tox3 A T 8: 90,996,869 (GRCm39) N131K probably benign Het
Tspear T A 10: 77,706,308 (GRCm39) D359E probably benign Het
Ttc9 A G 12: 81,678,551 (GRCm39) I125V probably benign Het
Ttn A T 2: 76,728,531 (GRCm39) probably benign Het
Ubn2 C T 6: 38,468,226 (GRCm39) S980F probably damaging Het
Vcf1 G T 11: 113,554,212 (GRCm39) P161H probably damaging Het
Zfp362 T A 4: 128,684,057 (GRCm39) T30S probably benign Het
Zfp385c A C 11: 100,528,630 (GRCm39) H32Q probably damaging Het
Zfp870 A T 17: 33,102,863 (GRCm39) H156Q possibly damaging Het
Zfp873 T C 10: 81,897,080 (GRCm39) C641R probably damaging Het
Zfp950 A T 19: 61,107,549 (GRCm39) H511Q probably benign Het
Other mutations in Ranbp9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01287:Ranbp9 APN 13 43,633,980 (GRCm39) missense probably damaging 1.00
IGL01478:Ranbp9 APN 13 43,567,560 (GRCm39) missense probably benign 0.31
IGL01948:Ranbp9 APN 13 43,576,029 (GRCm39) missense probably damaging 1.00
IGL02177:Ranbp9 APN 13 43,573,193 (GRCm39) missense probably damaging 0.99
IGL02382:Ranbp9 APN 13 43,589,622 (GRCm39) splice site probably null
R0183:Ranbp9 UTSW 13 43,578,599 (GRCm39) missense probably damaging 1.00
R0401:Ranbp9 UTSW 13 43,576,134 (GRCm39) missense probably damaging 1.00
R0771:Ranbp9 UTSW 13 43,615,249 (GRCm39) missense possibly damaging 0.92
R1551:Ranbp9 UTSW 13 43,578,593 (GRCm39) missense probably benign 0.15
R1644:Ranbp9 UTSW 13 43,566,015 (GRCm39) missense probably damaging 1.00
R2247:Ranbp9 UTSW 13 43,565,901 (GRCm39) missense probably damaging 1.00
R4097:Ranbp9 UTSW 13 43,574,733 (GRCm39) missense probably damaging 0.97
R4794:Ranbp9 UTSW 13 43,567,552 (GRCm39) missense probably damaging 0.99
R4908:Ranbp9 UTSW 13 43,574,733 (GRCm39) missense possibly damaging 0.81
R4996:Ranbp9 UTSW 13 43,578,570 (GRCm39) nonsense probably null
R5024:Ranbp9 UTSW 13 43,588,331 (GRCm39) missense probably damaging 0.99
R5422:Ranbp9 UTSW 13 43,573,102 (GRCm39) missense probably benign 0.01
R7069:Ranbp9 UTSW 13 43,573,098 (GRCm39) missense probably benign 0.24
R7115:Ranbp9 UTSW 13 43,560,147 (GRCm39) missense probably benign 0.04
R7298:Ranbp9 UTSW 13 43,633,936 (GRCm39) missense probably benign 0.10
R7382:Ranbp9 UTSW 13 43,578,590 (GRCm39) missense probably damaging 0.99
R7826:Ranbp9 UTSW 13 43,573,097 (GRCm39) missense possibly damaging 0.46
R8856:Ranbp9 UTSW 13 43,567,506 (GRCm39) missense probably damaging 1.00
R8914:Ranbp9 UTSW 13 43,578,560 (GRCm39) missense probably benign 0.33
R9433:Ranbp9 UTSW 13 43,576,041 (GRCm39) missense probably damaging 1.00
R9657:Ranbp9 UTSW 13 43,557,155 (GRCm39) missense unknown
R9664:Ranbp9 UTSW 13 43,578,519 (GRCm39) missense probably benign 0.00
X0024:Ranbp9 UTSW 13 43,578,561 (GRCm39) missense possibly damaging 0.64
Predicted Primers PCR Primer
(F):5'- AATGTTCTGGCCATCCCTAGG -3'
(R):5'- CCGGGAATTCAACTCAGAGG -3'

Sequencing Primer
(F):5'- TCCCTAGGGATACAGAAATTAGGG -3'
(R):5'- CAACCTAATCAAATTGCTGT -3'
Posted On 2014-06-30